Which DNA Test is Best?

If you’re reading this article, congratulations. You’re a savvy shopper and you’re doing some research before purchasing a DNA test. You’ve come to the right place.

The most common question I receive is asking which test is best to purchase. There is no one single best answer for everyone – it depends on your testing goals and your pocketbook.

Testing Goals

People who want to have their DNA tested have a goal in mind and seek results to utilize for their particular purpose. Today, in the Direct to Consumer (DTC) DNA market space, people have varied interests that fall into the general categories of genealogy and medical/health.

I’ve approached the question of “which test is best” by providing information grouped into testing goal categories.  I’ve compared the different vendors and tests from the perspective of someone who is looking to test for those purposes – and I’ve created separate sections of this article for each interest..

We will be discussing testing for:

  • Ethnicity – Who Am I? – Breakdown by Various World Regions
  • Adoption – Finding Missing Parents or Close Family
  • Genealogy – Cousin Matching and Ancestor Search/Verification
  • Medical/Health

We will be reviewing the following test types:

  • Autosomal
  • Y DNA (males only)
  • Mitochondrial DNA

I have included summary charts for each section, plus an additional chart for:

  • Additional Vendor Considerations

If you are looking to select one test, or have limited funds, or are looking to prioritize certain types of tests, you’ll want to read about each vendor, each type of test, and each testing goal category.

Each category reports information about the vendors and their products from a different perspective – and only you can decide which of these perspectives and features are most important to you.

You might want to read this short article for a quick overview of the 4 kinds of DNA used for genetic genealogy and DTC testing and how they differ.

The Big 3

Today, there are three major players in the DNA testing market, not in any particular order:

Each of these companies offers autosomal tests, but each vendor offers features that are unique. Family Tree DNA and 23andMe offer additional tests as well.

In addition to the Big 3, there are a couple of new kids on the block that I will mention where appropriate. There are also niche players for the more advanced genetic genealogist or serious researcher, and this article does not address advanced research.

In a nutshell, if you are serious genealogist, you will want to take all of the following tests to maximize your tools for solving genealogical puzzles. There is no one single test that does everything.

  • Full mitochondrial sequence that informs you about your matrilineal line (only) at Family Tree DNA.
  • Y DNA test (for males only) that informs you about your direct paternal (surname) line (only) at Family Tree DNA.
  • Family Finder, an autosomal test that provides ethnicity estimates and cousin matching at Family Tree DNA.
  • AncestryDNA, an autosomal test at Ancestry.com that provides ethnicity estimates and cousin matching. (Do not confuse this test with Ancestry by DNA, which is not the same test and does not provide the same features.)
  • 23andMe Ancestry Service test, an autosomal test that provides ethnicity estimates and cousin matching.

A Word About Third Party Tools

A number of third party tools exist, such as GedMatch and DNAGedcom.com, and while these tools are quite useful after testing, these vendors don’t provide tests. In order to use these sites, you must first take an autosomal DNA test from a testing vendor. This article focuses on selecting your DNA testing vendor based on your testing goals.

Let’s get started!

Ethnicity

Many people are drawn to DNA testing through commercials that promise to ‘tell you who you are.” While the allure is exciting, the reality is somewhat different.

Each of the major three vendors provide an ethnicity estimate based on your autosomal DNA test, and each of the three vendors will provide you with a different result.

Yep, same person, different ethnicity breakdowns.

Hopefully, the outcomes will be very similar, but that’s certainly not always the case. However, many people take one test and believe those results wholeheartedly. Please don’t. You may want to read Concepts – Calculating Ethnicity Percentages to see how varied my own ethnicity reports are at various vendors as compared to my known genealogy.

The technology for understanding “ethnicity” from a genetic perspective is still very new. Your ethnicity estimate is based on reference populations from around the world – today. People and populations move, and have moved, for hundreds, thousands and tens of thousands of years. Written history only reaches back a fraction of that time, so the estimates provided to people today are not exact.

That isn’t to criticize any individual vendor. View each vendor’s results not as gospel, but as their opinion based on their reference populations and their internal proprietary algorithm of utilizing those reference populations to produce your ethnicity results.

To read more about how ethnicity testing works, and why your results may vary between vendors or not be what you expected, click here.

I don’t want to discourage anyone from testing, only to be sure consumers understand the context of what they will be receiving. Generally speaking, these results are accurate at the continental level, and less accurate within continents, such as European regional breakdowns.

All three testing companies provide additional features or tools, in addition to your ethnicity estimates, that are relevant to ethnicity or population groups.

Let’s look at each company separately.

Ethnicity – Family Tree DNA

Family Tree DNA’s ethnicity tool is called myOrigins and provides three features or tools in addition to the actual ethnicity estimate and associated ethnicity map.

Please note that throughout this article you can click on any image to enlarge.

On the myOrigins ethnicity map page, above, your ethnicity percentages and map are shown, along with two additional features.

The Shared Origins box to the left shows the matching ethnic components of people on your DNA match list. This is particularly useful if you are trying to discover, for example, where a particular minority admixture comes from in your lineage. You can select different match types, for example, immediate relatives or X chromosome matches, which have special inheritance qualities.

Clicking on the apricot (mitochondrial DNA) and green (Y DNA) pins in the lower right corner drops the pins in the locations on your map of the most distant ancestral Y and mitochondrial DNA locations of the individuals in the group you have selected in the Shared Origins match box. You may or may not match these individuals on the Y or mtDNA lines, but families tend to migrate in groups, so match hints of any kind are important.

A third unique feature provided by Family Tree DNA is Ancient Origins, a tool released with little fanfare in November 2016.

Ancient Origins shows the ancient source of your European DNA, based on genome sequencing of ancient DNA from the locations shown on the map.

Additionally, Family Tree DNA hosts an Ancient DNA project where they have facilitated the upload of the ancient genomes so that customers today can determine if they match these ancient individuals.

Kits included in the Ancient DNA project are shown in the chart below, along with their age and burial location. Some have matches today, and some of these samples are included on the Ancient Origins map.

Individual Approx. Age Burial Location Matches Ancient Origins Map
Clovis Anzick 12,500 Montana (US) Yes No
Linearbandkeramik 7,500 Stuttgart, Germany Yes Yes
Loschbour 8,000 Luxembourg Yes Yes
Palaeo-Eskimo 4,000 Greenland No No
Altai Neanderthal 50,000 Altai No No
Denisova 30,000 Siberia No No
Hinxton-4 2,000 Cambridgeshire, UK No No
BR2 3,200 Hungary Yes Yes
Ust’-Ishim 45,000 Siberia Yes No
NE1 7,500 Hungary Yes Yes

Ethnicity – Ancestry

In addition to your ethnicity estimate, Ancestry also provides a feature called Genetic Communities.

Your ethnicity estimate provides percentages of DNA found in regions shown on the map by fully colored shapes – green in Europe in the example above. Genetic Communities show how your DNA clusters with other people in specific regions of the world – shown with dotted clusters in the US in this example.

In my case, my ethnicity at Ancestry shows my European roots, illustrated by the green highlighted areas, and my two Genetic Communities are shown by yellow and red dotted regions in the United States.

My assigned Genetic Communities indicate that my DNA clusters with other people whose ancestors lived in two regions; The Lower Midwest and Virginia as well as the Alleghenies and Northeast Indiana.

Testers can then view their DNA matches within that community, as well as a group of surnames common within that community.

The Genetic Communities provided for me are accurate, but don’t expect all of your genealogical regions to be represented in Genetic Communities. For example, my DNA is 25% German, and I don’t have any German communities today, although ancestry will be adding new Genetic Communities as new clusters are formed.

You can read more about Genetic Communities here and here.

Ethnicity – 23andMe

In addition to ethnicity percentage estimates, called Ancestry Composition, 23andMe offers the ability to compare your Ancestry Composition against that of your parent to see which portions of your ethnicity you inherited from each parent, although there are problems with this tool incorrectly assigning parental segments.

Additionally, 23andMe paints your chromosome segments with your ethnic heritage, as shown below.

You can see that my yellow Native American segments appear on chromosomes 1 and 2.

In January 2017, 23andMe introduced their Ancestry Timeline, which I find to be extremely misleading and inaccurate. On my timeline, shown below, they estimate that my most recent British and Irish ancestor was found in my tree between 1900 and 1930 while in reality my most recent British/Irish individual found in my tree was born in England in 1759.

I do not view 23andMe’s Ancestry Timeline as a benefit to the genealogist, having found that it causes people to draw very misleading conclusions, even to the point of questioning their parentage based on the results. I wrote about their Ancestry Timeline here.

Ethnicity Summary

All three vendors provide both ethnicity percentage estimates and maps. All three vendors provide additional tools and features relevant to ethnicity. Vendors also provide matching to other people which may or may not be of interest to people who test only for ethnicity. “Who you are” only begins with ethnicity estimates.

DNA test costs are similar, although the Family Tree DNA test is less at $79. All three vendors have sales from time to time.

Ethnicity Vendor Summary Chart

Ethnicity testing is an autosomal DNA test and is available for both males and females.

Family Tree DNA Ancestry 23andMe
Ethnicity Test Included with $79 Family Finder test Included with $99 Ancestry DNA test Included with $99 Ancestry Service
Percentages and Maps Yes Yes Yes
Shared Ethnicity with Matches Yes No Yes
Additional Feature Y and mtDNA mapping of ethnicity matches Genetic Communities Ethnicity phasing against parent (has issues)
Additional Feature Ancient Origins Ethnicity mapping by chromosome
Additional Feature Ancient DNA Project Ancestry Timeline

 

Adoption and Parental Identity

DNA testing is extremely popular among adoptees and others in search of missing parents and grandparents.

The techniques used for adoption and parental search are somewhat different than those used for more traditional genealogy, although non-adoptees may wish to continue to read this section because many of the features that are important to adoptees are important to other testers as well.

Adoptees often utilize autosomal DNA somewhat differently than traditional genealogists by using a technique called mirror trees. In essence, the adoptee utilizes the trees posted online of their closest DNA matches to search for common family lines within those trees. The common family lines will eventually lead to the individuals within those common trees that are candidates to be the parents of the searcher.

Here’s a simplified hypothetical example of my tree and a first cousin adoptee match.

The adoptee matches me at a first cousin level, meaning that we share at least one common grandparent – but which one? Looking at other people the adoptee matches, or the adoptee and I both match, we find Edith Lore (or her ancestors) in the tree of multiple matches. Since Edith Lore is my grandmother, the adoptee is predicted to be my first cousin, and Edith Lore’s ancestors appear in the trees of our common matches – that tells us that Edith Lore is also the (probable) grandmother of the adoptee.

Looking at the possibilities for how Edith Lore can fit into the tree of me and the adoptee, as first cousins, we fine the following scenario.

Testing the known child of daughter Ferverda will then provide confirmation of this relationship if the known child proves to be a half sibling to the adoptee.

Therefore, close matches, the ability to contact matches and trees are very important to adoptees. I recommend that adoptees make contact with www.dnaadoption.com. The volunteers there specialize in adoptions and adoptees, provide search angels to help people and classes to teach adoptees how to utilize the techniques unique to adoption search such as building mirror trees.

For adoptees, the first rule is to test with all 3 major vendors plus MyHeritage. Family Tree DNA allows you to test with both 23andMe and Ancestry and subsequently transfer your results to Family Tree DNA, but I would strongly suggest adoptees test on the Family Tree DNA platform instead. Your match results from transferring to Family Tree DNA from other companies, except for MyHeritage, will be fewer and less reliable because both 23andMe and Ancestry utilize different chip technology.

For most genealogists, MyHeritage is not a player, as they have only recently entered the testing arena, have a very small data base, no tools and are having matching issues. I recently wrote about MyHeritage here. However, adoptees may want to test with MyHeritage, or upload your results to MyHeritage if you tested with Family Tree DNA, because your important puzzle-solving match just might have tested there and no place else. You can read about transfer kit compatibility and who accepts which vendors’ tests here.

Adoptees can benefit from ethnicity estimates at the continental level, meaning that regional (within continent) or minority ethnicity should be taken with a very large grain of salt. However, knowing that you have 25% Jewish heritage, for example, can be a very big clue to an adoptee’s search.

Another aspect of the adoptees search that can be relevant is the number of foreign testers. For many years, neither 23andMe, nor Ancestry tested substantially (or at all) outside the US. Family Tree DNA has always tested internationally and has a very strong Jewish data base component.

Not all vendors report X chromosome matches. The X chromosome is important to genetic genealogy, because it has a unique inheritance path. Men don’t inherit an X chromosome from their fathers. Therefore, if you match someone on the X chromosome, you know the relationship, for a male, must be from their mother’s side. For a female, the relationship must be from the mother or the father’s mother’s side. You can read more about X chromosome matching here.

Neither Ancestry nor MyHeritage have chromosome browsers which allow you to view the segments of DNA on which you match other individuals, which includes the X chromosome.

Adoptee Y and Mitochondrial Testing

In addition to autosomal DNA testing, adoptees will want to test their Y DNA (males only) and mitochondrial DNA.

These tests are different from autosomal DNA which tests the DNA you receive from all of your ancestors. Y and mitochondrial DNA focus on only one specific line, respectively. Y DNA is inherited by men from their fathers and the Y chromosome is passed from father to son from time immemorial. Therefore, testing the Y chromosome provides us with the ability to match to current people as well as to use the Y chromosome as a tool to look far back in time. Adoptees tend to be most interested in matching current people, at least initially.

Working with male adoptees, I have a found that about 30% of the time a male will match strongly to a particular surname, especially at higher marker levels. That isn’t always true, but adoptees will never know if they don’t test. An adoptee’s match list is shown at 111 markers, below.

Furthermore, utilizing the Y and mitochondrial DNA test in conjunction with autosomal DNA matching at Family Tree DNA helps narrows possible relatives. The Advanced Matching feature allows you to see who you match on both the Y (or mitochondrial) DNA lines AND the autosomal test, in combination.

Mitochondrial DNA tests the matrilineal line only, as women pass their mitochondrial DNA to all of their children, but only females pass it on. Family Tree DNA provides matching and advanced combination matching/searching for mitochondrial DNA as well as Y DNA. Both genders of children carry their mother’s mitochondrial DNA. Unfortunately, mitochondrial DNA is more difficult to work with because of the surname changes in each generation, but you cannot be descended from a woman, or her direct matrilineal ancestors if you don’t substantially match her mitochondrial DNA.

Some vendors state that you receive mitochondrial DNA with your autosomal results, which is only partly accurate. At 23andMe, you receive a haplogroup but no detailed results and no matching. 23andMe does not test the entire mitochondria and therefore cannot provide either advanced haplogroup placement nor Y or mitochondrial DNA matching between testers.

For additional details on the Y and Mitochondrial DNA tests themselves and what you receive, please see the Genealogy – Y and Mitochondrial DNA section.

Adoption Summary

Adoptees should test with all 4 vendors plus Y and mitochondrial DNA testing.

  • Ancestry – due to their extensive data base size and trees
  • Family Tree DNA – due to their advanced tools, chromosome browser, Y and mitochondrial DNA tests (Ancestry and 23andMe participants can transfer autosomal raw data files and see matches for free, but advanced tools require either an unlock fee or a test on the Family Tree DNA platform)
  • 23andMe – no trees and many people don’t participate in sharing genetic information
  • MyHeritage – new kid on the block, working through what is hoped are startup issues
  • All adoptees should take the full mitochondrial sequence test.
  • Male adoptees should take the 111 marker Y DNA test, although you can start with 37 or 67 markers and upgrade later.
  • Y and mitochondrial tests are only available at Family Tree DNA.

Adoptee Vendor Feature Summary Chart

Family Tree DNA Ancestry 23andMe MyHeritage
Autosomal DNA – Males and Females
Matching Yes Yes Yes Yes – problems
Relationship Estimates* Yes – May be too close Yes – May be too distant Yes – Matches may not be sharing Yes –  problematic
International Reach Very strong Not strong but growing Not strong Small but subscriber base is European focused
Trees Yes Yes No Yes
Tree Quantity 54% have trees, 46% no tree (of my first 100 matches) 56% have trees, 44% no tree or private (of my first 100 matches) No trees ~50% don’t have trees or are private (cannot discern private tree without clicking on every tree)
Data Base Size Large Largest Large – but not all opt in to matching Very small
My # of Matches on 4-23-2017 2,421 23,750 1,809 but only 1,114 are sharing 75
Subscription Required No No for partial, Yes for full functionality including access to matches’ trees, minimal subscription for $59 by calling Ancestry No No for partial, Yes for full functionality
Other Relevant Tools New Ancestor Discoveries
Autosomal DNA Issues Many testers don’t have trees Many testers don’t have trees Matching opt-in is problematic, no trees at all Matching issues, small data base size is problematic, many testers don’t have trees
Contact Methodology E-mail address provided to matches Internal message system – known delivery issues Internal message system Internal message system
X Chromosome Matching Yes No Yes No
Y-DNA – Males Only
Y DNA STR Test Yes- 37, 67, and 111 markers No No No
Y Haplogroup Yes as part of STR test plus additional testing available No Yes, basic level but no additional testing available, outdated haplogroups No
Y Matching Yes No No No
Advanced Matching Between Y and Autosomal Yes No No No
Mitochondrial DNA- Males and Females
Test Yes, partial and full sequence No No No
Mitochondrial DNA Haplogroup Yes, included in test No Yes, basic but full haplogroup not available, haplogroup several versions behind No
Advanced Matching Between Mitochondrial and Autosomal Yes No No No

Genealogy – Cousin Matching and Ancestor Search/Verification

People who want to take a DNA test to find cousins, to learn more about their genealogy, to verify their genealogy research or to search for unknown ancestors and break down brick walls will be interested in various types of testing

Test Type Who Can Test
Y DNA – direct paternal line Males only
Mitochondrial DNA – direct matrilineal line Males and Females
Autosomal – all lines Males and Females

Let’s begin with autosomal DNA testing for genealogy which tests your DNA inherited from all ancestral lines.

Aside from ethnicity, autosomal DNA testing provides matches to other people who have tested. A combination of trees, meaning their genealogy, and their chromosome segments are used to identify (through trees) and verify (through DNA segments) common ancestor(s) and then to assign a particular DNA segment(s) to that ancestor or ancestral couple. This process, called triangulation, then allows you to assign specific segments to particular ancestors, through segment matching among multiple people. You then know that when another individual matches you and those other people on the same segment, that the DNA comes from that same lineage. Triangulation is the only autosomal methodology to confirm ancestors who are not close relatives, beyond the past 2-3 generations or so.

All three vendors provide matching, but the tools they include and their user interfaces are quite different. 

Genealogy – Autosomal –  Family Tree DNA

Family Tree DNA entered DNA testing years before any of the others, initially with Y and mitochondrial DNA testing.

Because of the diversity of their products, their website is somewhat busier, but they do a good job of providing areas on the tester’s personal landing page for each of the products and within each product, a link for each feature or function.

For example, the Family Finder test is Family Tree DNA’s autosomal test. Within that product, tools provided are:

  • Matching
  • Chromosome Browser
  • Linked Relationships
  • myOrigins
  • Ancient Origins
  • Matrix
  • Advanced Matching

Unique autosomal tools provided by Family Tree DNA are:

  • Linked Relationships that allows you to connect individuals that you match to their location in your tree, indicating the proper relationship. Phased Family Matching uses these relationships within your tree to indicate which side of your tree other matches originate from.
  • Phased Family Matching shows which side of your tree, maternal, paternal or both, someone descends from, based on phased DNA matching between you and linked relationship matches as distant as third cousins. This allows Family Tree DNA to tell you whether matches are paternal (blue icon), maternal (red icon) or both (purple icon) without a parent’s DNA. This is one of the best autosomal tools at Family Tree DNA, shown below.

  • In Common With and Not In Common With features allow you to sort your matches in common with another individual a number of ways, or matches not in common with that individual.
  • Filtered downloads provide the downloading of chromosome data for your filtered match list.
  • Stackable filters and searches – for example, you can select paternal matches and then search for a particular surname or ancestral surname within the paternal matches.
  • Common ethnicity matching through myOrigins allows you to see selected groups of individuals who match you and share common ethnicities.
  • Y and mtDNA locations of autosomal matches are provided on your ethnicity map through myOrigins.
  • Advanced matching tool includes Y, mtDNA and autosomal in various combinations. Also includes matches within projects where the tester is a member as well as by partial surname.
  • The matrix tool allows the tester to enter multiple people that they match in order to see if those individuals also match each other. The matrix tool is, in combination with the in-common-with tool and the chromosome browser is a form of pseudo triangulation, but does not indicate that the individuals match on the same segment.

  • Chromosome browser with the ability to select different segment match thresholds to display when comparing 5 or fewer individuals to your results.
  • Projects to join which provide group interaction and allow individuals to match only within the project, if desired.

To read more about how to utilize the various autosomal tools at Family Tree DNA, with examples, click here.

Genealogy – Autosomal – Ancestry

Ancestry only offers autosomal DNA testing to their customers, so their page is simple and straightforward.

Ancestry is the only testing vendor (other than MyHeritage who is not included in this section) to require a subscription for full functionality, although if you call the Ancestry support line, a minimal subscription is available for $59. You can see your matches without a subscription, but you cannot see your matches trees or utilize other functions, so you will not be able to tell how you connect to your matches. Many genealogists have Ancestry subscriptions, so this is minimally problematic for most people.

However, if you don’t realize you need a subscription initially, the required annual subscription raises the effective cost of the test quite substantially. If you let your subscription lapse, you no longer have access to all DNA features. The cost of testing with Ancestry is the cost of the test plus the cost of a subscription if you aren’t already a subscriber.

This chart, from the Ancestry support center, provides details on which features are included for free and which are only available with a subscription.

Unique tools provided by Ancestry include:

  • Shared Ancestor Hints (green leaves) which indicate a match with whom you share a common ancestor in your tree connected to your DNA, allowing you to display the path of you and your match to the common ancestor. In order to take advantage of this feature, testers must link their tree to their DNA test. Otherwise, Ancestry can’t do tree matching.  As far as I’m concerned, this is the single most useful DNA tool at Ancestry. Subscription required.

  • DNA Circles, example below, are created when several people whose DNA matches also share a common ancestor. Subscription required.

  • New Ancestor Discoveries (NADs), which are similar to Circles, but are formed when you match people descended from a common ancestor, but don’t have that ancestor in your tree. The majority of the time, these NADs are incorrect and are, when dissected and the source can be determined, found to be something like the spouse of a sibling of your ancestor. I do not view NADs as a benefit, more like a wild goose chase, but for some people these could be useful so long as the individual understands that these are NOT definitely ancestors and only hints for research. Subscription required.
  • Ancestry uses a proprietary algorithm called Timber to strip DNA from you and your matches that they consider to be “too matchy,” with the idea that those segments are identical by population, meaning likely to be found in large numbers within a population group – making them meaningless for genealogy. The problem is that Timber results in the removal of valid segments, especially in endogamous groups like Acadian families. This function is unique to Ancestry, but many genealogists (me included) don’t consider Timber a benefit.
  • Genetic Communities shows you groups of individuals with whom your DNA clusters. The trees of cluster members are then examined by Ancestry to determine connections from which Genetic Communities are formed. You can filter your DNA match results by Genetic Community.

Genealogy – Autosomal – 23and Me

Unfortunately, the 23andMe website is not straightforward or intuitive. They have spent the majority of the past two years transitioning to a “New Experience” which has resulted in additional confusion and complications when matching between people on multiple different platforms. You can take a spin through the New Experience by clicking here.

23andMe requires people to opt-in to sharing, even after they have selected to participate in Ancestry Services (genealogy) testing, have opted-in previously and chosen to view their DNA Relatives. Users on the “New Experience” can then either share chromosome data and results with each other individually, meaning on a one by one basis, or globally by a one-time opt-in to “open sharing” with matches. If a user does not opt-in to both DNA Relatives and open sharing, sharing requests must be made individually to each match, and they must opt-in to share with each individual user. This complexity and confusion results in an approximate sharing rate of between 50 and 60%. One individual who religiously works their matches by requesting sharing now has a share rate of about 80% of their matches in the data base who HAVE initially selected to participate in DNA Relatives. You can read more about the 23andMe experience at this link.

Various genetic genealogy reports and tools are scattered between the Reports and Tools tabs, and within those, buried in non-intuitive locations. If you are going to utilize 23andMe for matching and genealogy, in addition to the above link, I recommend Kitty Cooper’s blogs about the new DNA Relatives here and on triangulation here. Print the articles, and use them as a guide while navigating the 23andMe site.

Note that some screens (the Tools, DNA Relatives, then DNA tab) on the site do not display/work correctly utilizing Internet Explorer, but do with Edge or other browsers.

The one genealogy feature unique to 23andMe is:

  • Triangulation at 23andMe allows you to select a specific match to compare your DNA against. Several pieces of information will be displayed, the last of which, scrolling to the bottom, is a list of your common relatives with the person you selected.

In the example below, I’ve selected to see the matches I match in common with known family member, Stacy Den (surnames have been obscured for privacy reasons.)  Please note that the Roberta V4 Estes kit is a second test that I took for comparison purposes when the new V4 version of 23andMe was released.  Just ignore that match, because, of course I match myself as a twin.

If an individual does not match both you and your selected match, they will not appear on this list.

In the “relatives in common” section, each person is listed with a “shared DNA” column. For a person to be shown on this “in common” list, you obviously do share DNA with these individuals and they also share with your match, but the “shared DNA” column goes one step further. This column indicates whether or not you and your match both share a common DNA segment with the “in common” person.

I know this is confusing, so I’ve created this chart to illustrate what will appear in the “Shared DNA” column of the individuals showing on the list of matches, above, shared between me and Stacy Den.

Clicking on “Share to see” sends Sarah a sharing request for her to allow you to see her segment matches.

Let’s look at an example with “yes” in the Shared DNA column.

Clicking on the “Yes” in the Shared DNA column of Debbie takes us to the chromosome browser which shows both your selected match, Stacy in my case, and Debbie, the person whose “yes” you clicked.

All three people, meaning me, Stacy and Debbie share a common DNA segment, shown below on chromosome 17.

What 23andMe does NOT say is that these people. Stacy and Debbie, also match each other, in addition to matching me, which means all three of us triangulate.

Because I manage Stacy’s kit at 23andMe, I can check to see if Debbie is on Stacy’s match list, and indeed, Debbie is on Stacy’s match list and Stacy does match both Debbie and me on chromosome 17 in exactly the same location shown above, proving unquestionably that the three of us all match each other and therefore triangulate on this segment. In our case, it’s easy to identify our common relative whose DNA all 3 of us share.

Genealogy – Autosomal Summary

While all 3 vendors offer matching, their interfaces and tools vary widely.

I would suggest that Ancestry is the least sophisticated and has worked hard to make their tools easy for the novice working with genetic genealogy. Their green leaf DNA+Tree Matching is their best feature, easy to use and important for the novice and experienced genealogist alike.  Now, if they just had that chromosome browser so we could see how we match those people.

Ancestry’s Circles, while a nice feature, encourage testers to believe that their DNA or relationship is confirmed by finding themselves in a Circle, which is not the case.

Circles can be formed as the result of misinformation in numerous trees. For example, if I were to inaccurately list Smith as the surname for one of my ancestor’s wives, I would find myself in a Circle for Barbara Smith, when in fact, there is absolutely no evidence whatsoever that her surname is Smith. Yet, people think that Barbara Smith is confirmed due to a Circle having been formed and finding themselves in Barbara Smith’s Circle. Copying incorrect trees equals the formation of incorrect Circles.

It’s also possible that I’m matching people on multiple lines and my DNA match to the people in any given Circle is through another common ancestor entirely.

A serious genealogist will test minimally at Ancestry and at Family Tree DNA, who provides a chromosome browser and other tools necessary to confirm relationships and shared DNA segments.

Family Tree DNA is more sophisticated, so consequently more complex to use.  They provide matching plus numerous other tools. The website and matching is certainly friendly for the novice, but to benefit fully, some experience or additional education is beneficial, not unlike traditional genealogy research itself. This is true not just for Family Tree DNA, but GedMatch and 23andMe who all three utilize chromosome browsers.

The user will want to understand what a chromosome browser is indicating about matching DNA segments, so some level of education makes life a lot easier. Fortunately, understanding chromosome browser matching is not complex. You can read an article about Match Groups and Triangulation here. I also have an entire series of Concepts articles, Family Tree DNA offers a webinar library, their Learning Center and other educational resources are available as well.

Family Tree DNA is the only vendor to provide Phased Family Matches, meaning that by connecting known relatives who have DNA tested to your tree, Family Tree DNA can then identify additional matches as maternal, paternal or both. This, in combination with pseudo-phasing are very powerful matching tools.

23andMe is the least friendly of the three companies, with several genetic genealogy unfriendly restrictions relative to matching, opt-ins, match limits and such. They have experienced problem after problem for years relative to genetic genealogy, which has always been a second-class citizen compared to their medical research, and not a priority.

23andMe has chosen to implement a business model where their customers must opt-in to share segment information with other individuals, either one by one or by opting into open sharing. Based on my match list, roughly 60% of my actual DNA matches have opted in to sharing.

Their customer base includes fewer serious genealogists and their customers often are not interested in genealogy at all.

Having said that, 23andMe is the only one of the three that provides actual triangulated matches for users on the New Experience and who have opted into sharing.

If I were entering the genetic genealogy testing space today, I would test my autosomal DNA at Ancestry and at Family Tree DNA, but I would probably not test at 23andMe. I would test both my Y DNA (if a male) and mitochondrial at Family Tree DNA.

Thank you to Kitty Cooper for assistance with parent/child matching and triangulation at 23andMe.

Genealogy Autosomal Vendor Feature Summary Chart

Family Tree DNA Ancestry 23andMe
Matching Yes Yes Yes – each person has to opt in for open sharing or authorize sharing individually, many don’t
Estimated Relationships Yes Yes Yes
Chromosome Browser Yes No – Large Issue Yes
Chromosome Browser Threshold Adjustment Yes No Chromosome Browser No
X Chromosome Matching Yes No Yes
Trees Yes Yes – subscription required so see matches’ trees No
Ability to upload Gedcom file Yes Yes No
Ability to search trees Yes Yes No
Subscription in addition to DNA test price No No for partial, Yes for full functionality, minimal subscription for $59 by calling Ancestry No
DNA + Ancestor in Tree Matches No Yes – Leaf Hints – subscription required – Best Feature No
Phased Parental Side Matching Yes – Best Feature No No
Parent Match Indicator Yes No Yes
Sort or Group by Parent Match Yes Yes Yes
In Common With Tool Yes Yes Yes
Not In Common With Tool Yes No No
Triangulated Matches No – pseudo with ICW, browser and matrix No Yes – Best Feature
Common Surnames Yes Yes – subscription required No
Ability to Link DNA Matches on Tree Yes No No
Matrix to show match grid between multiple matches Yes No No
Match Filter Tools Yes Minimal Some
Advanced Matching Tool Yes No No
Multiple Test Matching Tool Yes No multiple tests No multiple tests
Ethnicity Matching Yes No Yes
Projects Yes No No
Maximum # of Matches Restricted No No Yes – 2000 unless you are communicating with the individuals, then they are not removed from your match list
All Customers Participate Yes Yes, unless they don’t have a subscription No – between 50-60% opt-in
Accepts Transfers from Other Testing Companies Yes No No
Free Features with Transfer Matching, ICW, Matrix, Advanced Matching No transfers No transfers
Transfer Features Requiring Unlock $ Chromosome Browser, Ethnicity, Ancient Origins, Linked Relationships, Parentally Phased Matches No Transfers No transfers
Archives DNA for Later Testing Yes, 25 years No, no additional tests available No, no additional tests available
Additional Tool DNA Circles – subscription required
Additional Tool New Ancestor Discoveries – subscription required
Y DNA Not included in autosomal test but is additional test, detailed results including matching No Haplogroup only
Mitochondrial DNA Not included in autosomal test but is additional test, detailed results including matching No Haplogroup only
Advanced Testing Available Yes No No
Website Intuitive Yes, given their many tools Yes, very simple No
Data Base Size Large Largest Large but many do not test for genealogy, only test for health
Strengths Many tools, multiple types of tests, phased matching without parent DNA + Tree matching, size of data base Triangulation
Challenges Website episodically times out No chromosome browser or advanced tools Sharing is difficult to understand and many don’t, website is far from intuitive

 

Genealogy – Y and Mitochondrial DNA

Two indispensable tools for genetic genealogy that are often overlooked are Y and mitochondrial DNA.

The inheritance path for Y DNA is shown by the blue squares and the inheritance path for mitochondrial DNA is shown by the red circles for the male and female siblings shown at the bottom of the chart.

Y-DNA Testing for Males

Y DNA is inherited by males only, from their father. The Y chromosome makes males male. Women instead inherit an X chromosome from their father, which makes them female. Because the Y chromosome is not admixed with the DNA of the mother, the same Y chromosome has been passed down through time immemorial.

Given that the Y chromosome follows the typical surname path, Y DNA testing is very useful for confirming surname lineage to an expected direct paternal ancestor. In other words, an Estes male today should match, with perhaps a few mutations, to other descendants of Abraham Estes who was born in 1647 in Kent, England and immigrated to the colony of Virginia.

Furthermore, that same Y chromosome can look far back in time, thousands of years, to tell us where that English group of Estes men originated, before the advent of surnames and before the migration to England from continental Europe. I wrote about the Estes Y DNA here, so you can see an example of how Y DNA testing can be used.

Y DNA testing for matching and haplogroup identification, which indicates where in the world your ancestors were living within the past few hundred to few thousand years, is only available from Family Tree DNA. Testing can be purchased for either 37, 67 or 111 markers, with the higher marker numbers providing more granularity and specificity in matching.

Family Tree DNA provides three types of Y DNA tests.

  • STR (short tandem repeat) testing is the traditional Y DNA testing for males to match to each other in a genealogically relevant timeframe. These tests can be ordered in panels of 37, 67 or 111 markers and lower levels can be upgraded to higher levels at a later date. An accurate base haplogroup prediction is made from STR markers.
  • SNP (single nucleotide polymorphism) testing is a different type of testing that tests single locations for mutations in order to confirm and further refine haplogroups. Think of a haplogroup as a type of genetic clan, meaning that haplogroups are used to track migration of humans through time and geography, and are what is utilized to determine African, European, Asian or Native heritage in the direct paternal line. SNP tests are optional and can be ordered one at a time, in groups called panels for a particular haplogroup or a comprehensive research level Y DNA test called the Big Y can be ordered after STR testing.
  • The Big Y test is a research level test that scans the entire Y chromosome to determine the most refined haplogroup possible and to report any previously unknown mutations (SNPs) that may define further branches of the Y DNA tree. This is the technique used to expand the Y haplotree.

You can read more about haplogroups here and about the difference between STR markers and SNPs here, here and here.

Customers receive the following features and tools when they purchase a Y DNA test at Family Tree DNA or the Ancestry Services test at 23andMe. The 23andMe Y DNA information is included in their Ancestry Services test. The Family Tree DNA Y DNA information requires specific tests and is not included in the Family Finder test. You can click here to read about the difference in the technology between Y DNA testing at Family Tree DNA and at 23andMe. Ancestry is not included in this comparison because they provide no Y DNA related information.

Y DNA Vendor Feature Summary Chart

Family Tree DNA 23andMe
Varying levels of STR panel marker testing Yes, in panels of 37, 67 and 111 markers No
Test panel (STR) marker results Yes Not tested
Haplogroup assignment Yes – accurate estimate with STR panels, deeper testing available Yes –base haplogroup by scan – haplogroup designations are significantly out of date, no further testing available
SNP testing to further define haplogroup Yes – can purchase individual SNPs, by SNP panels or Big Y test No
Matching to other participants Yes No
Trees available for your matches Yes No
E-mail of matches provided Yes No
Calculator tool to estimate probability of generational distance between you and a match Yes No
Earliest known ancestor information Yes No
Projects Surname, haplogroup and geographic projects No
Ability to search Y matches Yes No Y matching
Ability to search matches within projects Yes No projects
Ability to search matches by partial surname Yes No
Haplotree and customer result location on tree Yes, detailed with every branch Yes, less detailed, subset
Terminal SNP used to determine haplogroup Yes Yes, small subset available
Haplogroup Map Migration map Heat map
Ancestral Origins – summary by ancestral location of others you match, by test level Yes No
Haplogroup Origins – match ancestral location summary by haplogroup, by test level Yes No
SNP map showing worldwide locations of any selected SNP Yes No
Matches map showing mapped locations of your matches most distant ancestor in the paternal line, by test panel Yes No
Big Y – full scan of Y chromosome for known and previously unknown mutations (SNPs) Yes No
Big Y matching Yes No
Big Y matching known SNPs Yes No
Big Y matching novel variants (unknown or yet unnamed SNPs) Yes No
Filter Big Y matches Yes No
Big Y results Yes No
Advanced matching for multiple test types Yes No
DNA is archived so additional tests or upgrades can be ordered at a later date Yes, 25 years No

Mitochondrial DNA Testing for Everyone

Mitochondrial DNA is contributed to both genders of children by mothers, but only the females pass it on. Like the Y chromosome, mitochondrial DNA is not admixed with the DNA of the other parent. Therefore, anyone can test for the mitochondrial DNA of their matrilineal line, meaning their mother’s mother’s mother’s lineage.

Matching can identify family lines as well as ancient lineage.

You receive the following features and tools when you purchase a mitochondrial DNA test from Family Tree DNA or the Ancestry Services test from 23andMe. The Family Tree DNA mitochondrial DNA information requires specific tests and is not included in the Family Finder test. The 23andMe mitochondrial information is provided with the Ancestry Services test. Ancestry is omitted from this comparison because they do not provide any mitochondrial information.

Mitochondrial DNA Vendor Feature Summary Chart

Family Tree DNA 23andMe
Varying levels of testing Yes, mtPlus and Full Sequence No
Test panel marker results Yes, in two formats, CRS and RSRS No
Rare mutations, missing and extra mutations, insertions and deletions reported Yes No
Haplogroup assignment Yes, most current version, Build 17 Yes, partial and out of date version
Matching to other participants Yes No
Trees of matches available to view Yes No
E-mail address provided to matches Yes No
Earliest known ancestor information Yes No
Projects Surname, haplogroup and geographic available No
Ability to search matches Yes No
Ability to search matches within project Yes No projects
Ability to search match by partial surname Yes No
Haplotree and customer location on tree No Yes
Mutations used to determine haplogroup provided Yes No
Haplogroup Map Migration map Heat map
Ancestral Origins – summary by ancestral location of others you match, by test level Yes No
Haplogroup Origins –match ancestral location summary by haplogroup Yes No
Matches map showing mapped locations of your matches most distant ancestor in the maternal line, by test level Yes No
Advanced matching for multiple test types Yes No
DNA is archived so additional tests or upgrades can be ordered at a later date Yes, 25 years No

 

Overall Genealogy Summary

Serious genealogists should test with at least two of the three major vendors, being Family Tree DNA and Ancestry, with 23andMe coming in as a distant third.

No genetic genealogy testing regimen is complete without Y and mitochondrial DNA for as many ancestral lines as you can find to test. You don’t know what you don’t know, and you’ll never know if you don’t test.

Unfortunately, many people, especially new testers, don’t know Y and mitochondrial DNA testing for genetic genealogy exists, or how it can help their genealogy research, which is extremely ironic since these were the first tests available, back in 2000.

You can read about finding Y and mitochondrial information for various family lines and ancestors and how to assemble a DNA Pedigree Chart here.

You can also take a look at my 52 Ancestors series, where I write about an ancestor every week. Each article includes some aspect of DNA testing and knowledge gained by a test or tests, DNA tool, or comparison. The DNA aspect of these articles focuses on how to use DNA as a tool to discover more about your ancestors.

 

Testing for Medical/Health or Traits

The DTC market also includes health and medical testing, although it’s not nearly as popular as genetic genealogy.

Health/medical testing is offered by 23andMe, who also offers autosomal DNA testing for genealogy.

Some people do want to know if they have genetic predispositions to medical conditions, and some do not. Some want to know if they have certain traits that aren’t genealogically relevant, but might be interesting – such as whether they carry the Warrior gene or if they have an alcohol flush reaction.

23andMe was the first company to dip their toes into the water of Direct to Consumer medical information, although they called it “health,” not medicine, at that time. Regardless of the terminology, information regarding Parkinson’s and Alzheimer’s, for example, were provided for customers. 23andMe attempted to take the raw data and provide the consumer with something approaching a middle of the road analysis, because sometimes the actual studies provide conflicting information that might not be readily understood by consumers.

The FDA took issue with 23andMe back in November of 2013 when they ordered 23andMe to discontinue the “health” aspect of their testing after 23andMe ignored several deadlines. In October 2015, 23andMe obtained permission to provide customers with some information, such as carrier status, for 36 genetic disorders.

Since that time, 23andMe has divided their product into two separate tests, with two separate prices. The genealogy only test called Ancestry Service can be purchased separately for $99, or the combined Health + Ancestry Service for $199.

If you are interested in seeing what the Health + Ancestry test provides, you can click here to view additional information.

However, there is a much easier and less expensive solution.

If you have taken the autosomal test from 23andMe, Ancestry or Family Tree DNA, you can download your raw data file from the vendor and upload to Promethease to obtain a much more in-depth report than is provided by 23andMe, and much less expensively – just $5.

I reviewed the Promethease service here. I found the Promethease reports to be very informative and I like the fact that they provide information, both positive and negative for each SNP (DNA location) reported. Promethease avoids FDA problems by not providing any interpretation or analysis, simply the data and references extracted from SNPedia for you to review.

I would be remiss if I didn’t mention that you should be sure you really want to know before you delve into medical testing. Some mutations are simply indications that you could develop a condition that you will never develop or that is not serious. Other mutations are not so benign. Promethease provides this candid page before you upload your data.

Different files from different vendors provide different results at Promethease, because those vendors test different SNP locations in your DNA. At the Promethease webpage, you can view examples.

Traits

Traits fall someplace between genealogy and health. When you take the Health + Ancestry test at 23andMe, you do receive information about various traits, as follows:

Of course, you’ll probably already know if you have several of these traits by just taking a look in the mirror, or in the case of male back hair, by asking your wife.

At Family Tree DNA, existing customers can order tests for Factoids (by clicking on the upgrade button), noted as curiosity tests for gene variants.

Family Tree DNA provides what I feel is a great summary and explanation of what the Factoids are testing on their order page:

“Factoids” are based on studies – some of which may be controversial – and results are not intended to diagnose disease or medical conditions, and do not serve the purpose of medical advice. They are offered exclusively for curiosity purposes, i.e. to see how your result compared with what the scientific papers say. Other genetic and environmental variables may also impact these same physiological characteristics. They are merely a conversational piece, or a “cocktail party” test, as we like to call it.”

Test Price Description
Alcohol Flush Reaction $19 A condition in which the body cannot break down ingested alcohol completely. Flushing, after consuming one or two alcoholic beverages, includes a range of symptoms: nausea, headaches, light-headedness, an increased pulse, occasional extreme drowsiness, and occasional skin swelling and itchiness. These unpleasant side effects often prevent further drinking that may lead to further inebriation, but the symptoms can lead to mistaken assumption that the people affected are more easily inebriated than others.
Avoidance of Errors $29 We are often angry at ourselves because we are unable to learn from certain experiences. Numerous times we have made the wrong decision and its consequences were unfavorable. But the cause does not lie only in our thinking. A mutation in a specific gene can also be responsible, because it can cause a smaller number of dopamine receptors. They are responsible for remembering our wrong choices, which in turn enables us to make better decisions when we encounter a similar situation.
Back Pain $39 Lumbar disc disease is the drying out of the spongy interior matrix of an intervertebral disc in the spine. Many physicians and patients use the term lumbar disc disease to encompass several different causes of back pain or sciatica. A study of Asian patients with lumbar disc disease showed that a mutation in the CILP gene increases the risk of back pain.
Bitter Taste Perception $29 There are several genes that are responsible for bitter taste perception – we test 3 of them. Different variations of this gene affect ability to detect bitter compounds. About 25% of people lack ability to detect these compounds due to gene mutations. Are you like them? Maybe you don’t like broccoli, because it tastes too bitter?
Caffeine Metabolism $19 According to the results of a case-control study reported in the March 8, 2006 issue of JAMA, coffee is the most widely consumed stimulant in the world, and caffeine consumption has been associated with increased risk for non-fatal myocardial infarction. Caffeine is primarily metabolized by the cytochrome P450 1A2 in the liver, accounting for 95% of metabolism. Carriers of the gene variant *1F allele are slow caffeine metabolizers, whereas individuals homozygous for the *1A/*1A genotype are rapid caffeine metabolizers.
Earwax Type $19 Whether your earwax is wet or dry is determined by a mutation in a single gene, which scientists have discovered. Wet earwax is believed to have uses in insect trapping, self-cleaning and prevention of dryness in the external auditory canal of the ear. It also produces an odor and causes sweating, which may play a role as a pheromone.
Freckling $19 Freckles can be found on anyone no matter what the background. However, having freckles is genetic and is related to the presence of the dominant melanocortin-1 receptor MC1R gene variant.
Longevity $49 Researchers at Harvard Medical School and UC Davis have discovered a few genes that extend lifespan, suggesting that the whole family of SIR2 genes is involved in controlling lifespan. The findings were reported July 28, 2005 in the advance online edition of Science.
Male Pattern Baldness $19 Researchers at McGill University, King’s College London and GlaxoSmithKline Inc. have identified two genetic variants in Caucasians that together produce an astounding sevenfold increase of the risk of male pattern baldness. Their results were published in the October 12, 2008 issue of the Journal of Nature Genetics.
Monoamine Oxidase A (Warrior Gene) $49.50 The Warrior Gene is a variant of the gene MAO-A on the X chromosome. Recent studies have linked the Warrior Gene to increased risk-taking and aggressive behavior. Whether in sports, business, or other activities, scientists found that individuals with the Warrior Gene variant were more likely to be combative than those with the normal MAO-A gene. However, human behavior is complex and influenced by many factors, including genetics and our environment. Individuals with the Warrior Gene are not necessarily more aggressive, but according to scientific studies, are more likely to be aggressive than those without the Warrior Gene variant. This test is available for both men and women, however, there is limited research about the Warrior Gene variant amongst females. Additional details about the Warrior Gene genetic variant of MAO-A can be found in Sabol et al, 1998.
Muscle Performance $29 A team of researchers, led by scientists at Dartmouth Medical School and Dartmouth College, have identified and tested a gene that dramatically alters both muscle metabolism and performance. The researchers say that this finding could someday lead to treatment of muscle diseases, including helping the elderly who suffer from muscle deterioration and improving muscle performance in endurance athletes.
Nicotine Dependence $19 In 2008, University of Virginia Health System researchers have identified a gene associated with nicotine dependence in both Europeans and African Americans.

Many people are interested in the Warrior Gene, which I wrote about here.

At Promethease, traits are simply included with the rest of the conditions known to be associated with certain SNPs, such as baldness, for example, but I haven’t done a comparison to see which traits are included.

 

Additional Vendor Information to Consider

Before making your final decision about which test or tests to purchase, there are a few additional factors you may want to consider.

As mentioned before, Ancestry requires a subscription in addition tot he cost of the DNA test for the DNA test to be fully functional.

One of the biggest issues, in my opinion, is that both 23andMe and Ancestry sell customer’s anonymized DNA information to unknown others. Every customer authorizes the sale of their information when they purchase or activate a kit – even though very few people actually take the time to read the Terms and Conditions, Privacy statements and Security documents, including any and all links. This means most people don’t realize they are authorizing the sale of their DNA.

At both 23andMe and Ancestry, you can ALSO opt in for additional non-anonymized research or sale of your DNA, which you can later opt out of. However, you cannot opt out of the lower level sale of your anonymized DNA without removing your results from the data base and asking for your sample to be destroyed. They do tell you this, but it’s very buried in the fine print at both companies. You can read more here.

Family Tree DNA does not sell your DNA or information.

All vendors can change their terms and conditions at any time. Consumers should always thoroughly read the terms and conditions including anything having to do with privacy for any product they purchase, but especially as it relates to DNA testing.

Family Tree DNA archives your DNA for later testing, which has proven extremely beneficial when a family member has passed away and a new test is subsequently introduced or the family wants to upgrade a current test.  Had my mother’s DNA not been archived at Family Tree DNA, I would not have Family Finder results for her today – something I thank Mother and Family Tree DNA for every single day.

Family Tree DNA also accepts transfer files from 23andMe, Ancestry and very shortly, MyHeritage – although some versions work better than others. For details on which companies accept which file versions, from which vendors, and why, please read Autosomal DNA Transfers – Which Companies Accept Which Tests?

If you tested on a compatible version of the 23andMe Test (V3 between December 2010 and November 2013) or the Ancestry V1 (before May 2016) you may want to transfer your raw data file to Family Tree DNA for free and pay only $19 for full functionality, as opposed to taking the Family Finder test. Family Tree DNA does accept later versions of files from 23andMe and Ancestry, but you will receive more matches if you test on the same chip platform that Family Tree DNA utilizes instead of doing a transfer.

Additional Vendor Considerations Summary Chart

Family Tree DNA Ancestry 23andMe
Subscription required in addition to cost of DNA test No Yes for full functionality, partial functionality is included without subscription, minimum subscription is $59 by calling Ancestry No
Customer Support Good and available Available, nice but often not knowledgeable about DNA Poor
Sells customer DNA information No Yes Yes
DNA raw data file available to download Yes Yes Yes
DNA matches file available to download including match info and chromosome match locations Yes No Yes
Customers genealogically focused Yes Yes Many No
Accepts DNA raw data transfer files from other companies Yes, most, see article for specifics No No
DNA archived for later testing Yes, 25 years No No
Beneficiary provision available Yes No No

 

Which Test is Best For You?

I hope you now know the answer as to which DNA test is best for you – or maybe it’s multiple tests for you and other family members too!

DNA testing holds so much promise for genealogy. I hesitate to call DNA testing a miracle tool, but it often is when there are no records. DNA testing works best in conjunction with traditional genealogical research.

There are a lot of tests and options.  The more tests you take, the more people you match. Some people test at multiple vendors or upload their DNA to third party sites like GedMatch, but most don’t. In order to make sure you reach those matches, which may be the match you desperately need, you’ll have to test at the vendor where they tested. Otherwise, they are lost to you. That means, of course, that eventually, if you’re a serious genealogist, you’ll be testing at all 3 vendors.  Don’t forget about Y and mitochondrial tests at Family Tree DNA.

Recruit family members to test and reach out to your matches.  The more you share and learn – the more is revealed about your ancestors. You are, after all, the unique individual that resulted from the combination of all of them!

Concepts – Percentage of Ancestors’ DNA

A very common question is, “How much DNA of an ancestor do I carry and how does that affect my ethnicity results?”

This question is particularly relevant for people who are seeking evidence of a particular ethnicity of an ancestor several generations back in time. I see this issue raise its head consistently when people take an ethnicity test and expect that their “full blood” Native American great-great-grandmother will show up in their results.

Let’s take a look at how DNA inheritance works – and why they might – or might not find the Native DNA they seek, assuming that great-great-grandma actually was Native.

Inheritance

Every child inherits exactly 50% of their autosomal DNA from each parent (except for the X chromosome in males.) However, and this is a really important however, the child does NOT inherit exactly half of the DNA of each ancestor who lived before the parents. How can this be, you ask?

Let’s step through this logically.

The number of ancestors you have doubles in each generation, going back in time.

This chart provides a summary of how many ancestors you have in each generation, an approximate year they were born using a 25 year generation and a 30 year generation, respectively, and how much of their DNA, on average, you could expect to carry, today. You’ll notice that by the time you’re in the 7th generation, you can be expected, on average, to carry 0.78% meaning less than 1% of that GGGGG-grandparent’s DNA.

Looking at the chart, you can see that you reach the 1% level at about the 6th generation with an ancestor probably born in the late 1700s or early 1800s.

It’s also worth noting here that generations can be counted differently. In some instances, you are counted as generation one, so your GGGGG-grandparent would be generation 8.

In general, DNA showing ethnicity below about 5% is viewed as somewhat questionable and below 2% is often considered to be “noise.” Clearly, that isn’t always the case, especially if you are dealing with continental level breakdowns, as opposed to within Europe, for example. Intra-continental (regional) ethnicity breakdowns are particularly difficult and unreliable, but continental level differences are easier to discern and are considered to be more reliable, comparatively.

If you want to learn more about how ethnicity calculations are derived and what they mean, please read the article Ethnicity Testing – A Conundrum.

On Average May Not Mean You

On average, each child receives half of the DNA of each ancestor from their parent.

The words “on average” are crucial to this discussion, because the average assumes that in fact each generation between your GGGGG-grandmother and you inherited exactly half of the DNA in each generation from their parent that was contributed by that GGGGG-grandmother.

Unfortunately, while averages are all that we have to work with, that’s not always how ancestral DNA is passed in each generation.

Let’s say that your GGGGG-grandmother was indeed full Native, meaning no admixture at all.

You can click to enlarge images.

Using the chart above, you can see that your GGGGG-grandmother was full native on all 20 “pieces” or segments of DNA used for this illustration. Those segments are colored red. The other 10 segments, with no color, were contributed by the father.

Let’s say she married a person who was not Native, and in every generation since, there were no additional Native ancestors.

Her child, generation 6, inherited exactly 50% of her DNA, shown in red – meaning 10 segments..

Generation 5, her grandchild, inherited exactly half of her DNA that was carried by the parent, shown in red – meaning 5 segments..

However, in the next generation, generation 4, that child inherited more than half of the Native DNA from their parent. They inherited half of their parent’s DNA, but the half that was randomly received included 3 Native segments out of a possible 5 Native segments that the parent carried.

In generation 3, that child inherited 2 of the possible 3 segments that their parent carried.

In generation 2, that person inherited all of the Native DNA that their parent carried.

In generation 1, your parent inherited half of the DNA that their parent carried, meaning one of 2 segments of Native DNA carried by your grandparent.

And you will either receive all of that one segment, part of that one segment, or none of that one segment.

In the case of our example, you did not inherit that segment, which is why you show no Native admixture, even though your GGGGG-grandmother was indeed fully Native..

Of course, even if you had inherited that Native segment, and that segment isn’t something the population reference models recognize as “Native,” you still won’t show as carrying any Native at all. It could also be that if you had inherited the red segment, it would have been too small and been interpreted as noise.

The “Received” column at the right shows how much of the ancestral DNA the current generation received from their parent.

The “% of Original” column shows how the percentage of GGGGG-grandmother’s DNA is reduced in each generation.

The “Expected” column shows how much DNA, “on average” we would expect to see in each generation, as compared to the “% of Original” which is how much they actually carry.

I intentionally made the chart, above, reflect a scenario close to what we could expect, on average. However, it’s certainly within the realm of possibility to see something like the following scenario, as well.

In the second example, above, neither you nor your parent or grandparent inherited any of the Native segments.

It’s also possible to see a third example, below, where 4 generations in a row, including you, inherited the full amount of Native DNA segments carried by the GG-grandparent.

Testing Other Relatives

Every child of every couple inherits different DNA from their parents. The 50% of their parents’ DNA that they inherit is not all the same. The three example charts above could easily represent three children of the GG-Grandparent and their descendants.

The pedigree chart below shows the three different examples, above.  The great-great-grandparent in the 4th generation who inherited 3 Native DNA segments is shown first, then the inheritance of the Native segments through all 3 children to the current generation.

Therefore, you may not have inherited the red segment of GGGGG-grandmother’s Native DNA, but your sibling might, or vice versa. As you can see in the chart above, one of your third cousins received 3 native segments from GGGGG-grandmother. but your other third cousin received none.

You can see why people are always encouraged to test their parents and grandparents as well as siblings. You never know where your ancestor’s DNA will turn up, and each person will carry a different amount, and different segments of DNA from your common ancestors.

In other words, your great-aunt and great-uncle’s DNA is every bit as important to you as your own grandparent’s DNA – so test everyone in older generations while you can, and their children if they are no longer available.

Back to Great-Great-Grandma

Going back to great-great-grandma and her Native heritage. You may not show Native ethnicity when you expected to see Native, but you may have other resources and recourses. Don’t give up!

Reason Resources and Comments
She really wasn’t Native. Genealogical research will help and mitochondrial DNA testing of an appropriate descendant will point the way to her true ethnic heritage, at least on her mother’s side.
She was Native, but the ethnicity test doesn’t show that I am. Test relatives and find someone descended from her through all females to take a mitochondrial test. The mitochondrial test will answer the question for her matrilineal line unquestionably.
She was partly, but not fully Native. This would mean that she had less Native DNA than you thought, which would mean the percentage coming to you is lower on average than anticipated. Mitochondrial DNA testing someone descended from her through all females to the current generation, which can be male, would reveal whether her mother was Native from her mother’s line.
She was Native, but several generations back in time. You or your siblings may show small percentages of Native or other locations considered to be a component of Native admixture in the absence of any other logical explanation for their presence, such as Siberian or Eastern Asian.

Using Y and Mitochondrial DNA Testing to Supplement Ethnicity Testing

When in doubt about ethnicity results, find an appropriately descended person to take a Y DNA test (males only, for direct paternal lineage) or a mitochondrial DNA test, for direct matrilineal results. These tests will yield haplogroup information and haplogroups are associated with specific world regions and ethnicities, providing a more definitive answer regarding the heritage of that specific line.

Y DNA reflects the direct male line, shown in blue above, and mitochondrial DNA reflects the direct matrilineal line, shown in red. Only males carry Y DNA, but both genders carry mitochondrial DNA.

For a short article about the different kinds of DNA and how they can help genealogists, please read 4 Kinds of DNA for Genetic Genealogy.

Ethnicity testing is available from any of the 3 major vendors, meaning Family Tree DNA, Ancestry or 23andMe. Base haplogroups are provided with 23andMe results, but detailed testing for Y and mitochondrial DNA is only available from Family Tree DNA.

To read about the difference between the two types of testing utilized for deriving haplogroups between 23andMe and Family Tree DNA, please read Haplogroup Comparisons between Family Tree DNA and 23andMe.

For more information on haplogroups, please read What is a Haplogroup?

For a discussion about testing family members, please read Concepts – Why DNA Testing the Oldest Family Members is Critically Important.

If you’d like to read a more detailed explanation of how inheritance works, please read Concepts – How Your Autosomal DNA Identifies Your Ancestors.

Concepts – Calculating Ethnicity Percentages

There has been a lot of discussion about ethnicity percentages within the genetic genealogy community recently, probably because of the number of people who have recently purchased DNA tests to discover “who they are.”

Testers want to know specifically if ethnicity percentages are right or wrong, and what those percentages should be. The next question, of course, is which vendor is the most accurate.

Up front, let me say that “your mileage may vary.” The vendor that is the most accurate for my German ancestry may not be the same vendor that is the most accurate for the British Isles or Native American. The vendor that is the most accurate overall for me may not be the most accurate for you. And the vendor that is the most accurate for me today, may no longer be the most accurate when another vendor upgrades their software tomorrow. There is no universal “most accurate.”

But then again, how does one judge “most accurate?” Is it just a feeling, or based on your preconceived idea of your ethnicity? Is it based on the results of one particular ethnicity, or something else?

As a genealogist, you have a very powerful tool to use to figure out the percentages that your ethnicity SHOULD BE. You don’t have to rely totally on any vendor. What is that tool? Your genealogy research!

I’d like to walk you through the process of determining what your own ethnicity percentages should be, or at least should be close to, barring any surprises.

By surprises, in this case, we’re assuming that all 64 of your GGGG-grandparents really ARE your GGGG-grandparents, or at least haven’t been proven otherwise. Even if one or two aren’t, that really only affects your results by 1.56% each. In the greater scheme of things, that’s trivial unless it’s that minority ancestor you’re desperately seeking.

A Little Math

First, let’s do a little very basic math. I promise, just a little. And it really is easy. In fact, I’ll just do it for you!

You have 64 great-great-great-great-grandparents.

Generation # You Have Who Approximate Percentage of Their DNA That You Have Today
1 You 100%
1 2 Parents 50%
2 4 Grandparents 25%
3 8 Great-grandparents 12.5%
4 16 Great-great-grandparents 6.25%
5 32 Great-great-great-grandparents 3.12%
6 64 Great-great-great-great-grandparents 1.56%

Each of those GGGG-grandparents contributed 1.56% of your DNA, roughly.

Why 1.56%?

Because 100% of your DNA divided by 64 GGGG-grandparents equals 1.56% of each of those GGGG-grandparents. That means you have roughly 1.56% of each of those GGGG-grandparents running in your veins.

OK, but why “roughly?”

We all know that we inherit 50% of each of our parents’ DNA.

So that means we receive half of the DNA of each ancestor that each parent received, right?

Well, um…no, not exactly.

Ancestral DNA isn’t divided exactly in half, by the “one for you and one for me” methodology. In fact, DNA is inherited in chunks, and often you receive all of a chunk of DNA from that parent, or none of it. Seldom do you receive exactly half of a chunk, or ancestral segment – but half is the AVERAGE.

Because we can’t tell exactly how much of any ancestor’s DNA we actually do receive, we have to use the average number, knowing full well we could have more than our 1.56% allocation of that particular ancestor’s DNA, or none that is discernable at current testing thresholds.

Furthermore, if that 1.56% is our elusive Native ancestor, but current technology can’t identify that ancestor’s DNA as Native, then our Native heritage melds into another category. That ancestor is still there, but we just can’t “see” them today.

So, the best we can do is to use the 1.56% number and know that it’s close. In other words, you’re not going to find that you carry 25% of a particular ancestor’s DNA that you’re supposed to carry 1.56% for. But you might have 3%, half of a percent, or none.

Your Pedigree Chart

To calculate your expected ethnicity percentages, you’ll want to work with a pedigree chart showing your 64 GGGG-grandparents. If you haven’t identified all 64 of your GGGG-grandparents – that’s alright – we can accommodate that. Work with what you do have – but accuracy about the ancestors you have identified is important.

I use RootsMagic, and in the RootsMagic software, I can display all 64 GGGG-grandparents by selecting all 4 of my grandparents one at a time.

In the first screen, below, my paternal grandfather is blue and my 16 GGGG-grandparents that are his ancestors are showing to the far right.  Please note that you can click on any of the images to enlarge.

ethnicity-pedigree

Next, my paternal grandmother

ethnicity-pedigree-1

Next, my maternal grandmother.

ethnicity-pedigree-2

And finally, my maternal grandfather.

ethnicity-pedigre-3

These displays are what you will work from to create your ethnicity table or chart.

Your Ethnicity Table

I simply displayed each of these 16 GGGG-grandparents and completed the following grid. I used a spreadsheet, but you can use a table or simply do this on a tablet of paper. Technology not required.

You’ll want 5 columns, as shown below.

  • Number 1-64, to make sure you don’t omit anyone
  • Name
  • Birth Location
  • 1.56% Source – meaning where in the world did the 1.56% of the DNA you received from them come from? This may not be the same as their birth location. For example an Irish man born in Virginia counts as an Irish man.
  • Ancestry – meaning if you don’t know positively where that ancestor is from, what do you know about them? For example, you might know that their father was German, but uncertain about the mother’s nationality.

My ethnicity table is shown below.

ethnicity-table

In some cases, I had to make decisions.

For example, I know that Daniel Miller’s father was a German immigrant, documented and proven. The family did not speak English. They were Brethren, a German religious sect that intermarried with other Brethren.  Marriage outside the church meant dismissal – so your children would not have been Brethren. Therefore, it would be extremely unlikely, based on both the language barrier and the Brethren religious customs for Daniel’s mother, Magdalena, to be anything other than German – plus, their children were Brethren..

We know that most people married people within their own group – partly because that is who they were exposed to, but also based on cultural norms and pressures. When it comes to immigrants and language, you married someone you could communicate with.

Filling in blanks another way, a local German man was likely the father of Eva Barbara Haering’s illegitmate child, born to Eva Barbara in her home village in Germany.

Obviously, there were exceptions, but they were just that, the exception. You’ll have to evaluate each of your 64 GGGG-grandparents individually.

Calculating Percentages

Next, we’re going to group locations together.

For example, I had a total of one plus that was British Isles. Three and a half, plus, that were Scottish. Nine and a half that were Dutch.

ethnicity-summary

You can’t do anything with the “plus” designation, but you can multiply by everything else.

So, for Scottish, 3 and a half (3.5) times 1.56% equals 5.46% total Scottish DNA. Follow this same procedure for every category you’re showing.

Do the same for “uncertain.”

Incorporating History

In my case, because all of my uncertain lines are on my father’s colonial side, and I do know locations and something about their spouses and/or the population found in the areas where each ancestor is located, I am making an “educated speculation” that these individuals are from the British Isles. These families didn’t speak German, or French, or have French or German, Dutch or Scandinavian surnames. People married others like themselves, in their communities and churches.

I want to be very clear about this. It’s not a SWAG (serious wild-a** guess), it’s educated speculation based on the history I do know.

I would suggest that there is a difference between “uncertain” and “unknown origin.” Unknown origin connotates that there is some evidence that the individual is NOT from the same background as their spouse, or they are from a highly mixed region, but we don’t know.

In my case, this leaves a total of 2 and a half that are of unknown origin, based on the other “half” that isn’t known of some lineages. For example, I know there are other Native lines and at least one African line, but I don’t know what percentage of which ancestor how far back. I can’t pinpoint the exact generation in which that lineage was “full” and not admixed.

I have multiple Native lines in my mother’s side in the Acadian population, but they are further back than 6 generations and the population is endogamous – so those ancestors sometimes appear more than once and in multiple Acadian lines – meaning I probably carry more of their DNA than I otherwise would. These situations are difficult to calculate mathematically, so just keep them in mind.

Given the circumstances based on what I do know, the 3.9% unknown origin is probably about right, and in this case, the unknown origin is likely at least part Native and/or African and probably some of each.

ethnicity-summary-2

The Testing Companies

It’s very difficult to compare apples to apples between testing companies, because they display and calculate ethnicity categories differently.

For example, Family Tree DNA’s regions are fairly succinct, with some overlap between regions, shown below.

ethnicity-ftdna-map

Some of Ancestry’s regions overlap by almost 100%, meaning that any area in a region could actually be a part of another region.

ethnicity-ancestry-map-2

For example look at the United Kingdom and Ireland. The United Kingdom region overlaps significantly into Europe.

ethnicity-ancestry-map

Here’s the Great Britain region close up, below, which is shown differently from the map above. The Great Britain region actually overlaps almost the entire western half of Europe.

ethnicity-ancestry-great-britain

That’s called hedging your bets, or maybe it’s simply the nature of ethnicity. Granted, the overlaps are a methodology for the vendor not to be “wrong,” but people and populations did and do migrate, and the British Isles was somewhat of a destination location.

This Germanic Tribes map, also from Ancestry’s Great Britain section, illustrates why ethnicity calculations are so difficult, especially in Europe and the British Isles.

ethnicity-invaders

Invaders and migrating groups brought their DNA.  Even if the invaders eventually left, their DNA often became resident in the host population.

The 23andMe map, below, is less detailed in terms of viewing how regions overlap.

ethnicity-23andme-map

The Genographic project breaks ethnicity down into 9 world regions which they indicate reflect both recent influences and ancient genetics dating from 500 to 10,000 years ago. I fall into 3 regions, shown by the shadowy Circles on the map, below.

ethnicity-geno-map-2

The following explanation is provided by the Genographic Project for how they calculate and explain the various regions, based on early European history.

ethnicity-geno-regions

Let’s look at how the vendors divide ethnicity and see what kind of comparisons we can make utilizing the ethnicity table we created that represents our known genealogy.

Family Tree DNA

MyOrigins results at Family Tree DNA show my ethnicity as:

ethnicity-ftdna-percents

I’ve reworked my ethnicity totals format to accommodate the vendor regions, creating the Ethnicity Totals Table, below. The “Genealogy %” column is the expected percentage based on my genealogy calculations. I have kept the “British Isles Inferred” percentage separate since it is the most speculative.

ethnicity-ftdna-table

I grouped the regions so that we can obtain a somewhat apples-to-apples comparison between vendor results, although that is clearly challenging based on the different vendor interpretations of the various regions.

Note the Scandinavian, which could potentially be a Viking remnant, but there would have had to be a whole boatload of Vikings, pardon the pun, or Viking is deeply inbedded in several population groups.

Ancestry

Ancestry reports my ethnicity as:

ethnicity-ancestry-amounts

Ancestry introduces Italy and Greece, which is news to me. However, if you remember, Ancestry’s Great Britain ethnicity circle reaches all the way down to include the top of Italy.

ethnicity-ancestry-table

Of all my expected genealogy regions, the most definitive are my Dutch, French and German. Many are recent immigrants from my mother’s side, removing any ambiguity about where they came from. There is very little speculation in this group, with the exception of one illegitimate German birth and two inferred German mothers.

23andMe

23andMe allows customers to change their ethnicity view along a range from speculative to conservative.

ethnicity-23andme-levels

Generally, genealogists utilize the speculative view, which provides the greatest regional variety and breakdown. The conservative view, in general, simply rolls the detail into larger regions and assigns a higher percentage to unknown.

I am showing the speculative view, below.

ethnicity-23andme-amounts

Adding the 23andMe column to my Ethnicity Totals Table, we show the following.

ethnicity-23andme-table-2

Genographic Project 2.0

I also tested through the Genographic project. Their results are much more general in nature.

ethnicity-geno-amounts

The Genographic Project results do not fit well with the others in terms of categorization. In order to include the Genographic ethnicity numbers, I’ve had to add the totals for several of the other groups together, in the gray bands below.

ethnicity-geno-table-2

Genographic Project results are the least like the others, and the most difficult to quantify relative to expected amounts of genealogy. Genealogically, they are certainly the least useful, although genealogy is not and never has been the Genographic focus.

I initially omitted this test from this article, but decided to include it for general interest. These four tests clearly illustrate the wide spectrum of results that a consumer can expect to receive relative to ethnicity.

What’s the Point?

Are you looking at the range of my expected ethnicity versus my ethnicity estimates from the these four entities and asking yourself, “what’s the point?”

That IS the point. These are all proprietary estimates for the same person – and look at the differences – especially compared to what we do know about my genealogy.

This exercise demonstrates how widely estimates can vary when compared against a relatively solid genealogy, especially on my mother’s side – and against other vendors. Not everyone has the benefit of having worked on their genealogy as long as I have. And no, in case you’re wondering, the genealogy is not wrong. Where there is doubt, I have reflected that in my expected ethnicity.

Here are the points I’d like to make about ethnicity estimates.

  • Ethnicity estimates are interesting and alluring.
  • Ethnicity estimates are highly entertaining.
  • Don’t marry them. They’re not dependable.
  • Create and utilize your ethnicity chart based on your known, proven genealogy which will provide a compass for unknown genealogy. For example, my German and Dutch lines are proven unquestionably, which means those percentages are firm and should match up relatively well to vendor ethnicity estimates for those regions.
  • Take all ethnicity estimates with a grain of salt.
  • Sometimes the shaker of salt.
  • Sometimes the entire lick of salt.
  • Ethnicity estimates make great cocktail party conversation.
  • If the results don’t make sense based on your known genealogical percentages, especially if your genealogy is well-researched and documented, understand the possibilities of why and when a healthy dose of skepticism is prudent. For example, if your DNA from a particular region exceeds the total of both of your parents for that region, something is amiss someplace – which is NOT to suggest that you are not your parents’ child.  If you’re not the child of one or both parents, assuming they have DNA tested, you won’t need ethnicity results to prove or even suggest that.
  • Ethnicity estimates are not facts beyond very high percentages, 25% and above. At that level, the ethnicity does exist, but the percentage may be in error.
  • Ethnicity estimates are generally accurate to the continent level, although not always at low levels. Note weasel word, “generally.”
  • We should all enjoy the results and utilize these estimates for their hints and clues.  For example, if you are an adoptee and you are 25% African, it’s likely that one of your grandparents was Africa, or two of your grandparents were roughly half African, or all four of your grandparents were one-fourth African.  Hints and clues, not gospel and not cast in concrete. Maybe cast in warm Jello.
  • Ethnicity estimates showing larger percentages probably hold a pearl of truth, but how big the pearl and the quality of the pearl is open for debate. The size and value of the pearl is directly related to the size of the percentage and the reference populations.
  • Unexpected results are perplexing. In the case of my unknown 8% to 12% Scandinavian – the Vikings may be to blame, or the reference populations, which are current populations, not historical populations – or some of each. My Scandinavian amounts translate into between 5 and 8 of my GGGG-grandparents being fully Scandinavian – and that’s extremely unlikely in the middle of Virginia in the 1700s.
  • There can be fairly large slices of completely unexplained ethnicity. For example, Scandinavia at 8-12% and even more perplexing, Italy and Greece. All I can say is that there must have been an awful lot of Vikings buried in the DNA of those other populations. But enough to aggregate, cumulatively, to between a great-grandparent at 12.5% and a great-great-grandparent at 6.25%? I’m not convinced. However, all three vendors found some Scandinavian – so something is afoot. Did they all use the same reference population data for Scandinavian? For the time being, the Scandinavian results remain a mystery.
  • There is no way to tell what is real and what is not. Meaning, do I really have some ancient Italian/Greek and more recent Scandinavian, or is this deep ancestry or a reference population issue? And can the lack of my proven Native and African ancestry be attributed to the same?
  • Proven ancestors beyond 6 generations, meaning Native lineages, disappear while undocumentable and tenuous ancestors beyond 6 generations appear – apparently, en masse. In my case, kind of like a naughty Scandinavian ancestral flash mob, taunting and tormenting me. Who are those people??? Are they real?
  • If the known/proven ethnicity percentages from Germany, Netherlands and France can be highly erroneous, what does that imply about the rest of the results? Especially within Europe? The accuracy issue is especially pronounced looking at the wide ranges of British Isles between vendors, versus my expected percentage, which is even higher, although the inferred British Isles could be partly erroneous – but not on this magnitude. Apparently part of by British Isles ancestry is being categorized as either or both Scandinavian or European.
  • Conversely, these estimates can and do miss positively genealogically proven minority ethnicity. By minority, I mean minority to the tester. In my case, African and Native that is proven in multiple lines – and not just by paper genealogy, but by Y and mtDNA haplogroups as well.
  • Vendors’ products and their estimates will change with time as this field matures and reference populations improve.
  • Some results may reflect the ancient history of the entire population, as indicated by the Genographic Project. In other words, if the entire German population is 30% Mediterranean, then your ancestors who descend from that population can be expected to be 30% Mediterranean too. Except I don’t show enough Mediterranean ancestry to be 30% of my German DNA, which would be about 8% – at least not as reported by any vendor other than the Genographic Project.
  • Not all vendors display below 1% where traces of minority admixture are sometimes found. If it’s hard to tell if 8-12% Scandinavian is real, it’s almost impossible to tell whether less than 1% of anything is real.  Having said that, I’d still like to see my trace amounts, especially at a continental level which tends to be more reliable, given that is where both my Native and African are found.
  • If the reason my Native and African ancestors aren’t showing is because their DNA was not passed on in subsequent generations, causing their DNA to effectively “wash out,” why didn’t that happen to Scandinavian?
  • Ethnicity estimates can never disprove that an ancestor a few generations back was or was not any particular ethnicity. (However, Y and mitochondrial DNA testing can.)
  • Absence of evidence is not evidence of absence, except in very recent generations – like 2 (grandparents at 25%), maybe 3 generations (great-grandparents at 12.5%).
  • Continental level estimates above 10-12 percent can probably be relied upon to suggest that the particular continental level ethnicity is present, but the percentage may not be accurate. Note the weasel wording here – “probably” – it’s here on purpose. Refer to Scandinavia, above – although that’s regional, not continental, but it’s a great example. My proven Native/African is nearly elusive and my mystery Scandinavian/Greek/Italian is present in far greater percentages than it should be, based upon proven genealogy.
  • Vendors, all vendors, struggle to separate ethnicity regions within continents, in particular, within Europe.
  • Don’t take your ethnicity results too seriously and don’t be trading in your lederhosen for kilts, or vice versa – especially not based on intra-continental results.
  • Don’t change your perception of who you are based on current ethnicity tests. Otherwise you’re going to feel like a chameleon if you test at multiple vendors.
  • Ethnicity estimates are not a short cut to or a replacement for discovering who you are based on sound genealogical research.
  • No vendor, NOT ANY VENDOR, can identify your Native American tribe. If they say or imply they can, RUN, with your money. Native DNA is more alike than different. Just because a vendor compares you to an individual from a particular tribe, and part of your DNA matches, does NOT mean your ancestors were members of or affiliated with that tribe. These three major vendors plus the Genographic Project don’t try to pull any of those shenanigans, but others do.
  • Genetic genealogy and specifically, ethnicity, is still a new field, a frontier.
  • Ethnicity estimates are not yet a mature technology as is aptly illustrated by the differences between vendors.
  • Ethnicity estimates are that. ESTIMATES.

If you like to learn more about ethnicity estimates and how they are calculated, you might want to read this article, Ethnicity Testing, A Conundrum.

Summary

This information is NOT a criticism of the vendors. Instead, this is a cautionary tale about correctly setting expectations for consumers who want to understand and interpret their results – and about how to use your own genealogy research to do so.

Not a day passes that I don’t receive very specific questions about the interpretation of ethnicity estimates. People want to know why their results are not what they expected, or why they have more of a particular geographic region listed than their two parents combined. Great questions!

This phenomenon is only going to increase with the popularity of DNA testing and the number of people who test to discover their identity as a result of highly visible ad campaigns.

So let me be very clear. No one can provide a specific interpretation. All we can do is explain how ethnicity estimates work – and that these results are estimates created utilizing different reference populations and proprietary software by each vendor.

Whether the results match each other or customer expectations, or not, these vendors are legitimate, as are the GedMatch ethnicity tools. Other vendors may be less so, and some are outright unethical, looking to exploit the unwary consumer, especially those looking for Native American heritage. If you’re interested in how to tell the difference between legitimate genetic information and a company utilizing pseudo-genetics to part you from your money, click here for a lecture by Dr. Jennifer Raff, especially about minutes 48-50.

Buyer beware, both in terms of purchasing DNA testing for ethnicity purposes to discover “who you are” and when internalizing and interpreting results.

The science just isn’t there yet for answers at the level most people seek.

My advice, in a nutshell: Stay with legitimate vendors. Enjoy your ethnicity results, but don’t take them too seriously without corroborating traditional genealogical evidence!

Ethnicity Testing and Results

I have written repeatedly about ethnicity results as part of the autosomal test offerings of the major DNA testing companies, but I still receive lots of questions about which ethnicity test is best, which is the most accurate, etc.  Take a look at “Ethnicity Percentages – Second Generation Report Card” for a detailed analysis and comparison.

First, let’s clarify which testing companies we are talking about.  They are:

Let’s make this answer unmistakable.

  1. Some of the companies are somewhat better than others relative to ethnicity – but not a lot.
  2. These tests are reasonably reliable when it comes to a continent level test – meaning African, European, Asian and sometimes, Native American.
  3. These tests are great at detecting ancestry over 25% – but if you know who your grandparents are – you already have that information.
  4. The usefulness of these tests for accurately providing ethnicity information diminishes as the percentage of that minority admixture declines.  Said another way – as your percentage of a particular ethnicity decreases, so does the testing companies’ ability to find it.
  5. Intra-continental results, meaning within Europe, for example, are speculative, at best.  Do not expect them to align with your known genealogy.  They likely won’t – and if they do at one vendor – they won’t at others.  Which one is “right”?  Who knows – maybe all of them when you consider population movement, migration and assimilation.
  6. As the vendors add to and improve their data bases, reference populations and analysis tools, your results change. I discussed how vendors determine your ethnicity percentages in the article, “Determining Ethnicity Percentages.”
  7. Sometimes unexpected results, especially continent level results, are a factor of ancient population mixing and migrations, not recent admixture – and it’s impossible to tell the difference. For example, the Celts, from the Germanic area of Europe also settled in the British Isles. Attila the Hun and his army, from Asia, invaded and settled in what is today, Germany, as well as other parts of Eastern Europe.
  8. Ethnicity tests are unreliable in consistently detecting minority admixture. Minority in this context means a small amount, generally less than 5%.  It does not refer to any specific ethnicity. Having said that, there are very few reference data base entries for Native American populations.  Most are from from Canada and South America.

In the context of ethnicity, what does unreliable mean?

Unreliable means that the results are not consistent and often not reproducible across platforms, especially in terms of minority admixture.  For example, a German/Hungarian family member shows Native American admixture at low percentages, around 3%, at some, but not all, vendors.  His European family history does not reflect Native heritage and in fact, precludes it.  However, his results likely reflect Native American from a common underlying ancestral population, the Yamnaya, between the Asian people who settled Hungary and parts of Germany and also contributed to the Native American population.

Unreliable can also mean that different vendors, measuring different parts of your DNA, can assign results to different regions.  For example, if you carry Celtic ancestry, would you be surprised to see Germanic results and think they are “wrong?”  Speaking of Celts, they didn’t just stay put in one region within Europe either.  And who were the Celts and where did they ‘come from’ before they were Celts.  All of this current and ancient admixture is carried in your DNA.  Teasing it out and the meaning it carries is the challenge.

Unreliable may also mean that the tests often do not reflect what is “known” in terms of family history.  I put the word “known” in quotes here, because oral history does not constitute “known” and it’s certainly not proof.  For the most part, documented genealogy does constitute “known” but you can never “know” about an undocumented adoption, also referred to as a “nonparental event” or NPE.  Yes, that’s when one or both parents are not who you think they are based on traditional information.  With the advent of DNA testing, NPEs can, in some instances, be discovered.

So, the end result is that you receive very interesting information about your genetic history that often does not correlate with what you expected – and you are left scratching your head.

However, in some cases, if you’re looking for something specific – like a small amount of Native American or African ancestry, you, indeed, can confirm it through your DNA – and can confirm your family history.  One thing is for sure, if you don’t test, you will never know.

Minority Admixture

Let’s take a look at how ethnicity estimates work relative to minority admixture.

In terms of minority admixture, I’m referring to admixture that is several generations back in your tree.  It’s often revealed in oral history, but unproven, and people turn to genetic genealogy to prove those stories.

In my case, I have several documented Native American lines and a few that are not documented.  All of these results are too far back in time, the 1600s and 1700s, to realistically be “found” in autosomal admixture tests consistently.  I also have a small amount of African admixture.  I know which line this comes from, but I don’t know which ancestor, exactly.  I have worked through these small percentages systematically and documented the process in the series titled, “The Autosomal Me.”  This is not an easy or quick process – and if quick and easy is the type of answer you’re seeking – then working further, beyond what the testing companies give you, with small amounts of admixture, is probably not for you.

Let’s look at what you can expect in terms of inheritance admixture.  You receive 50% of your DNA from each parent, and so forth, until eventually you receive very little DNA (or none) from your ancestors from many generations back in your tree.

Ethnicity DNA table

Let’s put this in perspective.  The first US census was taken in 1790, so your ancestors born in 1770 should be included in the 1790 census, probably as a child, and in following censuses as an adult.  You carry less than 1% of this ancestor’s DNA.

The first detailed census listing all family members was taken in 1850, so most of your ancestors that contributed more than 1% of your DNA would be found on that or subsequent detailed census forms.

These are often not the “mysterious” ancestors that we seek.  These ancestors, whose DNA we receive in amounts over 1%, are the ones we can more easily track through traditional means.

The reason the column of DNA percentages is labeled “approximate” is because, other than your parents, you don’t receive exactly half of your ancestor’s DNA.  DNA is not divided exactly in half and passed on to subsequence generations, except for what you receive from your parents.  Therefore, you can have more or less of any one ancestor’s individual DNA that would be predicted by the chart, above.  Eventually, as you continue to move further out in your tree, you may carry none of a specific ancestor’s DNA or it is in such small pieces that it is not detected by autosomal DNA testing.

The Vendors

At least two of the three major vendors have made changes of some sort this year in their calculations or underlying data bases.  Generally, they don’t tell us, and we discover the change by noticing a difference when we look at our results.

Historically, Ancestry has been the worst, with widely diverging estimates, especially within continents.  However, their current version is picking up both my Native and African.  However, with their history of inconsistency and wildly inaccurate results, it’s hard to have much confidence, even when the current results seem more reasonable and in line with other vendors.  I’ve adopted a reserved “wait and see” position with Ancestry relative to ethnicity.

Family Tree DNA’s Family Finder product is in the middle with consistent results, but they don’t report less than 1% admixture which is often where those distant ancestors’ minority ethnicity would be found, if at all.  However, Family Tree DNA does provide Y and mitochondrial mapping comparisons, and ethnicity comparisons to your matches that are not provided by other vendors.

Ethnicity DNA matches

In this view, you can see the matching ethnicity percentages for those whom you match autosomally.

23andMe is currently best in terms of minority ethnicity detection, in part, because they report amounts less than 1%, have a speculative view, which is preferred by most genetic genealogists and because they paint your ethnicity on your chromosomes, shown below.  You can see that both chromosome 1 and 2 show Native segments.

Ethnicity 23andMe chromosome

So, looking at minority admixture only – let’s take a look at today’s vendor results as compared to the same vendors in May 2014.

Ethnicity 2014-2015 compare

The Rest of the Story

Keep in mind, we’re only discussing ethnicity here – and there is a lot more to autosomal DNA testing than ethnicity – for example – matching to cousins, tools, such as a chromosome browser (or lack thereof), trees, ease of use and ability to contact your matches.  Please see “Autosomal DNA 2015 – Which Test is the Best?”  Unless ethnicity is absolutely the ONLY reason you are DNA testing, then you need to consider the rest of the story.

And speaking of the rest of the story, National Geographic has been pretty much omitted from this discussion because they have just announced a new upgrade, “Geno 2.0: Next Generation,” to their offering, which promises to be a better biogeographical tool.  I hope so – as National Geographic is in a unique position to evaluate populations with their focus on sample collection from what is left of unique and sometimes isolated populations.  We don’t have much information on the new product yet, and of course, no results because the new test won’t be released until in September, 2015.  So the jury is out on this one.  Stay tuned.

GedMatch – Not A Vendor, But a Great Toolbox

Finally, most people who are interested in ethnicity test at one (or all) of the companies, utilize the rest of the tools offered by that company, then download their results to www.gedmatch.com, a donation based site, and make use of the numerous contributed admixture tools there.

Ethnicity GedMatch

GedMatch offers lots of options and several tools that provide a wide range of focus.  For example, some tools are specifically written for European, African, Asian or even comparison against ancient DNA results.

Ethnicity ancient admixture

Conclusion

So what is the net-net of this discussion?

  1. There is a lot more to autosomal DNA testing than just ethnicity – so take everything into consideration.
  2. Ethnicity determination is still an infant and emerging field – with all vendors making relatively regular updates and changes. You cannot take minority results to the bank without additional and confirming research, often outside of genetic genealogy. However, mitochondrial or Y DNA testing, available only through Family Tree DNA, can positively confirm Native or minority ancestry in the lines available for testing. You can create a DNA Pedigree Chart to help identify or eliminate Native lines.
  3. If the ancestors you seek are more than a few generations removed, you may not carry enough of their ethnic DNA to be identified.
  4. Your “100% Cherokee” ancestor was likely already admixed – and so their descendants may carry even less Native DNA than anticipated.
  5. You cannot prove a negative using autosomal DNA (but you can with both Y and mitochondrial DNA). In other words, a negative autosomal ethnicity result alone, meaning no Native heritage, does NOT mean your ancestors were not Native. It MIGHT mean they weren’t Native. It also might mean that they were either very admixed or the Native ancestry is too far back in your tree to be found with today’s technology. Again, mitochondrial and Y DNA testing provide confirmed ancestry identification for the lines they represent. Y is the male paternal (surname) line and mitochondrial is the matrilineal line of both males and females – the mother’s, mother’s, mother’s line, on up the tree until you run out of mothers.
  6. It is very unlikely that you will be able to find your tribe, although it is occasionally possible. If a company says they can do this, take that claim with a very big grain of salt. Your internal neon warning sign should be flashing about now.
  7. If you’re considering purchasing an ethnicity test from a company other than the four I mentioned – well, just don’t.  Many use very obsolete technology and oversell what they can reliably provide.  They don’t have any better reference populations available to them than the major companies and Nat Geo, and let’s just say there are ways to “suggest” people are Native when they aren’t. Here are two examples of accidental ways people think they are Native or related – so just imagine what kind of damage could be done by a company that was intentionally providing “marginal” or misleading information to people who don’t have the experience to know that because they “match” someone who has a Native ancestor doesn’t mean they share that same Native ancestor – or any connection to that tribe. So, stay with the known companies if you’re going to engage in ethnicity testing. We may not like everything about the products offered by these companies, but we know and understand them.

My Recommendation

By all means, test.

Test with all three companies, 23andMe, Family Tree DNA and Ancestry – then download your results from either Family Tree DNA or Ancestry (who test more markers than 23andMe) to GedMatch and utilize their ethnicity tools.  When I’m looking for minority admixture, I tend to look for consistent trends – not just at results from any one vendor or source.

If you have already tested at Ancestry, or you tested at 23andMe on the V3 chip, prior to December 2013, you can download your raw data file to Family Tree DNA and pay just $39.  Family Tree DNA will process your raw data within a couple days and you will then see your myOrigins ethnicity results as interpreted by their software.  Of course, that’s in addition to having access to Family Tree DNA’s other autosomal features, functions and tools.  The transfer price of $39 is significantly less expensive than retesting.

Just understand that what you receive from these companies in terms of ethnicity is reflective of both contemporary and ancient admixture – from all of your ancestral lines.  This field is in its infancy – your results will change from time to time as we learn – and the only part of ethnicity that is cast in concrete is probably your majority ancestry which you can likely discern by looking in the mirror.  The rest – well – it’s a mystery and an adventure.  Welcome aboard to the miraculous mysterious journey of you, as viewed through the DNA of your ancestors!

African DNA in the British Isles

While the Slave Owner registers from 1834 in England and the recent project to index and study their contents has raised consciousness about slavery and how intertwined slavery was through Caribbean sugar production to all of the British Isles – DNA is telling a story too.  While the slave owner registers speak to the ownership of slaves in the Caribbean by Britains, those weren’t the only slaves.

I have done several DNA Reports in past decade for people who received unexpected results.  By unexpected results, I’m referring to clearly African haplogroups in Europe, primarily the British Isles, found in people who are just as clearly “white” today – and whose ancestors have been considered as such for generations.  Furthermore,  their autosomal DNA generally shows no trace or occasionally shows minute amounts of their African heritage, yet it is clearly there as proven by Y and mitochondrial DNA.

When these people are found in the US and their ancestors have been here for generations, especially in a slave-owning area, my first thought is always that perhaps the genealogy is in error – or that there was an undocumented adoption that would never show in genealogical records.  But when the people are not in the US and their ancestors have never lived outside of Europe and are well-documented, the results are impossible to explain away or rationalize in that fashion.

blacks in london

I’m also not referring to haplogroup E-M215, old E1b1b or E-M35, old E1b1b1, which is known to be North African, or Berber, found in the Mediterranean basin.  This haplogroup is found sparsely in England, likely due to the Roman legions who arrived and stayed or at least left some of their Y DNA behind.  Steven Bird wrote the paper about this titled “Haplogroup E3b1a2 as a Possible Indicator of Settlement of Roman Britain by Soldiers of Balkan Origin.”

I’m talking about haplogroups that are unquestionably sub-Saharan African in origin, such as Y DNA E-M2, old E1b1a now E-V38, and often, mitochondrial haplogroups such as L1, L2 and L3  – meaning that they originated with women, not men.

This begs the question of how those haplogroups came to be embedded in the British population long enough ago that there is no record that the people who carried them were not white.  In other words, the person who brought that haplogroup to the British Isles arrived long ago, many generations.

I have always found this a bit confounding, because while England was indeed heavily intertwined in the slave trade, England never had the space or need to employ slaves in the way that they were engaged on large plantations in the Caribbean or in the Southern US.  Furthermore, England had its own surplus of people they were trying to send elsewhere, which was one of the benefits of colonization.  You could send your undesirables to populate your colonies.  For example, those pesky recusant Catholics who refused to convert settled in Maryland.  Many people convicted of small crimes, such as my Joseph Rash for stealing 2 bags of malt, were transported to the colonies, in his case, Virginia.

We know that there were some Africans in Elizabethan England, although those records are almost incidental, few and far between.  Africans have been in England since the 12th century, but it wasn’t until slaving began in earnest that their numbers increased.  At this point, blacks in England were mostly novelties and were often owned by captains of slave ships and occasionally sold on the quay of coastal cities like Bristol.

Although not widespread, slavery was practiced in England until 1772, when the Somerset case effectively determined that chattel slavery was not supported by English law.  This legally freed all slaves in England, if not in actual practice.  Slaves in England at that time were mostly domestic servants and flocked to be baptized in the hope it would ensure their freedom.  The good news is that those baptisms created records.

Buried in the details of the Somerset case and arguments are an important tidbits.

James Somerset, a slave, was purchased in Massachusetts and brought to England by his master, Charles Stewart.  James escaped, was captured and was going to be shipped to the Caribbean by Stewart and sold as a plantation slave.  However, while in England, James had been converted to Christianity and his three god-parents upon his baptism filed suit claiming that while he may have been a slave when brought to England, that English law did not support slavery and he was therefore not a slave in England and could not be shipped against his will to the Caribbean to be sold.  This was not a humanitarian case, per se, but a case about law and legal details.

Somerset’s advocates argued that while colonial laws might permit slavery, neither the common law of England nor any law made by Parliament recognized the existence of slavery and slavery was therefore unlawful. The advocates also argued that English contract law did not allow for any person to enslave himself, nor could any contract be binding without the person’s consent. When the two lawyers for Charles Stewart, the owner, put forth their case, they argued that property was paramount and that it would be dangerous to free all the black people in England, who numbered at the time approximately 15,000.

That’s the information I was looking for.  There were 15,000 African or African descended slaves in England in 1772.  Given that most were domestic servants, the females would have been subject to whatever their owner wanted to impose upon them, including sexual advances.  Let’s face it, there were a lot more English men available in England than African men, so it’s very likely that the children of enslaved women would have been fathered by white men whether by consensual or nonconsensual means.

Their half white children would also have been enslaved, at least until 1772, and if they also bore children from an English male, their offspring would have been 25% African and 75% English.  Within another generation, they would have looked “white” and their African heritage would have been forgotten – at least until their descendants eight or ten generations later took a mitochondrial or Y DNA test and turned up with confusing African results.

Some Native Americans Had Oceanic Ancestors

This week has seen a flurry of new scientific and news articles.  What has been causing such a stir?  It appears that Australian or more accurately, Australo-Melanese DNA has been found in South America’s Native American population. In addition, it has also been found in Aleutian Islanders off the coast of Alaska.  In case you aren’t aware, that’s about 8,500 miles as the crow flies.  That’s one tired crow.  As the person paddles or walks along the shoreline, it’s even further, probably about 12,000 miles.

Aleutians to Brazil

Whatever the story, it was quite a journey and it certainly wasn’t all over flat land.

This isn’t the first inkling we’ve had.  Just a couple weeks ago, it was revealed that the Botocudo remains from Brazil were Polynesian and not admixed with either Native, European or African.  This admixture was first discovered via mitochondrial DNA, but full genome sequencing confirmed their ancestry and added the twist that they were not admixed – an extremely unexpected finding.  This is admittedly a bit confusing, because it implies that there were new Polynesian arrivals in the 1600s or 1700s.

Unlikely as it seems, it obviously happened, so we set that aside as relatively contemporary.

The findings in the papers just released are anything but contemporary.

The First Article

The first article in Science, “Genomic evidence for the Pleistocene and recent population history of Native Americans” by Raghaven et al published this week provides the following summary (bolding is mine):

How and when the Americas were populated remains contentious. Using ancient and modern genome-wide data, we find that the ancestors of all present-day Native Americans, including Athabascans and Amerindians, entered the Americas as a single migration wave from Siberia no earlier than 23 thousand years ago (KYA), and after no more than 8,000-year isolation period in Beringia. Following their arrival to the Americas, ancestral Native Americans diversified into two basal genetic branches around 13 KYA, one that is now dispersed across North and South America and the other is restricted to North America. Subsequent gene flow resulted in some Native Americans sharing ancestry with present-day East Asians (including Siberians) and, more distantly, Australo-Melanesians. Putative ‘Paleoamerican’ relict populations, including the historical Mexican Pericúes and South American Fuego-Patagonians, are not directly related to modern Australo-Melanesians as suggested by the Paleoamerican Model.

This article in EurekAlert and a second one here discuss the Science paper.

Raghaven 2015

Migration map from the Raghaven paper.

The paper included the gene flow and population migration map, above, along with dates.

The scientists sequenced the DNA of 31 living individuals from the Americas, Siberia and Oceana as follows:

Siberian:

  • Altai – 2
  • Buryat – 2
  • Ket – 2
  • Kiryak – 2
  • Sakha – 2
  • Siberian Yupik – 2

North American Native:

  • Tsimshian (number not stated, but by subtraction, it’s 1)

Southern North American, Central and South American Native:

  • Pima – 1
  • Huichol -1
  • Aymara – 1
  • Yakpa – 1

Oceana:

  • Papuan – 14

The researchers also state that they utilized 17 specimens from relict groups such as the Pericues from Mexico and Fuego-Patagonians from the southernmost tip of South America.  They also sequenced two pre-Columbian mummies from the Sierra Tarahumara in northern Mexico.  In total, 23 ancient samples from the Americas were utilized.

They then compared these results with a reference panel of 3053 individuals from 169 populations which included the ancient Saqqaq Greenland individual at 400 years of age as well as the Anzick child from Montana from about 12,500 years ago and the Mal’ta child from Siberia at 24,000 years of age.

Not surprisingly, all of the contemporary samples with the exception of the Tsimshian genome showed recent western Eurasian admixture.

As expected, the results confirm that the Yupik and Koryak are the closest Eurasian population to the Americas.  They indicate that there is a “clean split” between the Native American population and the Koryak about 20,000 years ago.

They found that “Athabascans and Anzick-1, but not the Greenlandis Inuit and Saqqaq belong to the same initial migration wave that gave rise to present-day Amerindians from southern North America and Central and South America, and that this migration likely followed a coastal route, given our current understanding of the glacial geological and paleoenvironmental parameters of the Late Pleistocene.”

Evidence of gene flow between the two groups was also found, meaning between the Athabascans and the Inuit.  Additionally, they found evidence of post-split gene flow between Siberians and Native Americans which seems to have stopped about 12,000 years ago, which meshes with the time that the Beringia land bridge was flooded by rising seas, cutting off land access between the two land masses.

They state that the results support all Native migration from Siberia, contradicting claims of an early migration from Europe.

The researchers then studied the Karitiana people of South America and determined that the two groups, Athabascans and Karitiana diverged about 13,000 years ago, probably not in current day Alaska, but in lower North America.  This makes sense, because the Clovis Anzick child, found in Montana, most closely matches people in South America.

By the Clovis period of about 12,500 years ago, the Native American population had already split into two branches, the northern and southern, with the northern including Athabascan and other groups such as the Chippewa, Cree and Ojibwa.  The Southern group included people from southern North America and Central and South America.

Interestingly, while admixture with the Inuit was found with the Athabascan, Inuit admixture was not found among the Cree, Ojibwa and Chippewa.  The researchers suggest that this may be why the southern branch, such as the Karitiana are genetically closer to the northern Amerindians located further east than to northwest coast Amerindians and Athabascans.

Finally, we get to the Australian part.  The researchers when trying to sort through the “who is closer to whom” puzzle found unexpected results.  They found that some Native American populations including Aleutian Islanders, Surui (Brazil) and Athabascans are closer to Australo-Melanesians compared to other Native Americans, such as Ojibwa, Cree and Algonquian and South American Purepecha (Mexico), Arhuaco (Colombia) and Wayuu (Colombia, Venezuela).  In fact, the Surui are one of the closest populations to East Asians and Australo-Melanese, the latter including Papuans, non-Papuan Melanesians, Solomon Islanders and hunter-gatherers such as Aeta. The researchers acknowledge these are weak trends, but they are nonetheless consistently present.

Dr. David Reich, from Harvard, a co-author of another paper, also published this past week, says that 2% of the DNA of Amazonians is from Oceana.  If that is consistent, it speaks to a founder population in isolation, such that the 2% just keeps getting passed around in the isolated population, never being diluted by outside DNA.  I would suggest that is not a weak signal.

The researchers suggest that the variance in the strength of this Oceanic signal suggests that the introduction of the Australo-Melanese occurred after the initial peopling of the Americas.  The ancient samples cluster with the Native American groups and do not show the Oceanic markers and show no evidence of gene flow from Oceana.

The researchers also included cranial morphology analysis, which I am omitting since cranial morphology seems to have led researchers astray in the past, specifically in the case of Kennewick man.

One of the reasons cranial morphology is such a hotly debated topic is because of the very high degree of cranial variance found in early skeletal remains.  One of the theories evolving from the cranial differences involving the populating of the Americans has been that the Australo-Melanese were part of a separate and earlier migration that gave rise to the earliest Americans who were then later replaced by the Asian ancestors of current day Native Americans.  If this were the case, then the now-extinct Fuego-Patagonains samples from the location furthest south on the South American land mass should have included DNA from Oceana, but it didn’t.

The Second Article

A second article published this week, titled “’Ghost population’ hints at long lost migration to the Americas” by Ellen Callaway discusses similar findings, presented in a draft letter to Nature titled “Genetic evidence for two founding populations of the Americas” by Skoglund et al.  This second group discovers the same artifact Australo-Melanesian DNA in Native American populations but suggests that it may be from the original migration and settlement event or that there may have been two distinct founding populations that settled at the same time or that there were two founding events.

EurekAlert discusses the article as well.

It’s good to have confirmation and agreement between the two labs who happened across these results independently that the Australo-Melanesian DNA is present in some Native populations today.

Their interpretations and theories about how this Oceanic DNA arrived in some of the Native populations vary a bit, but if you read the details, it’s really not quite as different as it first appears from the headlines.  Neither group claims to know for sure, and both discuss possibilities.

Questions remain.  For example, if the founding group was small, why, then, don’t all of the Native people and populations have at least some Oceanic markers?  The Anzick Child from 12,500 years ago does not.  He is most closely related to the tribes in South America, where the Oceanic markers appear with the highest frequencies.

In the Harvard study, the scientists fully genome sequenced 63 individuals without discernable evidence of European or African ancestors in 21 Native American populations, restricting their study to individuals from Central and South America that have the strongest evidence of being entirely derived from a homogenous First American ancestral population.

Their results show that the two Amazonian groups, Surui and Karitians are closest to the “Australasian populations, the Onge from the Andaman Island in the Bay of Bengal (a so-called ‘Negrito’ group), New Guineans, Papuans and indigenous Australians.”  Within those groups, the Australasian populations are the only outliers – meaning no Africans, Europeans or East Asian DNA found in the Native American people.

When repeating these tests, utilizing blood instead of saliva, a third group was shown to also carry these Oceanic markers – the Xavante, a population from the Brazilian plateau that speaks a language of the Ge group that is different from the Tupi language group spoke by the Karitians and Surui.

Skoglund 2015-2

The closest populations that these Native people matched in Oceana, shown above on the map from the draft Skoglund letter, were, in order, New Guineans, Papuans and Andamanese.  The researchers further state that populations from west of the Andes or north of the Panama isthmus show no significant evidence of an affinity to the Onge from the Andaman Islands with the exception of the Cabecar (Costa Rica).

That’s a very surprising finding, given that one would expect more admixture on the west, which is the side of the continent where the migration occurred.

The researchers then compared the results with other individuals, such as Mal’ta child who is known to have contributed DNA to the Native people today, and found no correlation with Oceanic DNA.  Therefore, they surmised that the Oceanic admixture cannot be explained by a previously known admixture event.

They propose that a mystery population they have labeled as “Population Y” (after Ypykuera which means ancestor in the Tupi language family) contributed the Australasian lineage to the First Americans and that is was already mixed into the lineage by the time it arrived in Brazil.

According to their work, Population Y may itself have been admixed, and the 2% of Oceanic DNA found in the Brazilian Natives may be an artifact of between 2 and 85% of the DNA of the Surui, Karitiana and Xavante that may have come from Population Y.  They mention that this result is striking in that the majority of the craniums that are more Oceanic in Nature than Asiatic, as would be expected from people who migrated from Siberia, are found in Brazil.

They conclude that the variance in the presence or absence of DNA in Native people and remains, and the differing percentages argue for more than one migration event and that “the genetic ancestry of Native Americans from Central and South America cannot be due to a single pulse of migration south of the Late Pleistocene ice sheets from a homogenous source population, and instead must reflect at least two streams of migration or alternatively a long drawn out period of gene flow from a structured Beringian or Northeast Asian source.”

Perhaps even more interesting is the following statement:

“The arrival of population Y ancestry in the Americas must in any scenario have been ancient: while Population Y shows a distant genetic affinity to Andamanese, Australian and New Guinean populations, it is not particularly closely related to any of them, suggesting that the source of population Y in Eurasia no longer exists.”

They further state they find no admixture indication that would suggest that Population Y arrived in the last few thousand years.

So, it appears that perhaps the Neanderthals and Denisovans were not the only people who were our ancestors, but no longer exist as a separate people, only as an admixed part of us today.  We are their legacy.

The Take Away

When I did the Anzick extractions, we had hints that something of this sort might have been occurring.  For example, I found surprising instances of haplogroup M, which is neither European, African nor Native American, so far as we know today.  This may have been a foreshadowing of this Oceanic admixture.  It may also be a mitochondrial artifact.  Time will tell.  Perhaps haplogroup M will turn out to be Native by virtue of being Oceanic and admixed thousands of years ago.  There is still a great deal to learn.  Regardless of how these haplogroups and Oceanic DNA arrived in Brazil in South America and in the Aleutian Islands off of Alaska, one thing is for sure, it did.

We know that the Oceanic DNA found in the Brazilian people studied for these articles is not contemporary and is ancient.  This means that it is not related to the Oceanic DNA found in the Botocudo people, who, by the way, also sport mitochondrial haplogroups that are within the range of Native people, meaning haplogroup B, but have not been found in other Native people.  Specifically, haplogroups B4a1a1 and B4a1a1a.  Additionally, there are other B4a1a, B4a1b and B4a1b1 results found in the Anzick extract which could also be Oceanic.  You can see all of the potential and confirmed Native American mitochondrial DNA results in my article “Native American Mitochondrial Haplogroups” that I update regularly.

We don’t know how or when the Botocudo arrived, but the when has been narrowed to the 1600s or 1700s.  We don’t know how or when the Oceanic DNA in the Brazilian people arrived either, but the when was ancient.  This means that Oceanic DNA has arrived in South America at least twice and is found among the Native peoples both times.

We know that some Native groups have some Oceanic admixture, and others seem to have none, in particular the Northern split group that became the Cree, Ojibwa, Algonquian, and Chippewa.

We know that the Brazilian Native groups are most closely related to Oceanic groups, but that the first paper also found Oceanic admixture in the Aleutian Islands.  The second paper focused on the Central and South American tribes.

We know that the eastern American tribes, specifically the Algonquian tribes are closely related to the South Americans, but they don’t share the Oceanic DNA and neither do the mid-continent tribes like the Cree, Ojibwa and Chippewa.  The only Paleolithic skeleton that has been sequenced, Anzick, from 12,500 years ago in Montana also does not carry the Oceanic signature.

In my opinion, the disparity between who does and does not carry the Oceanic signature suggests that the source of the Oceanic DNA in the Native population could not have been a member of the first party to exit out of Beringia and settle in what is now the Americas.  Given that this had to be a small party, all of the individuals would have been thoroughly admixed with each other’s ancestral DNA within just a couple of generations.  It would have been impossible for one ancestor’s DNA to only be found in some people.  To me, this argues for one of two scenarios.

First, a second immigration wave that joined the first wave but did not admix with some groups that might have already split off from the original group such as the Anzick/Montana group.

Second, multiple Oceanic immigration events.  We still have to consider the possibility that there were multiple events that introduced Oceanic DNA into the Native population.  In other words, perhaps the Aleutian Islands Oceanic DNA is not from the same migration event as the Brazilian DNA which we know is not from the same event as the Botocudo.  I would very much like to see the Oceanic DNA appear in a migration path of people, not just in one place and then the other.  We need to connect the dots.

What this new information does is to rule out the possibility that there truly was only one wave of migration – one group of people who settled the Americas at one time.  More likely, at least until the land bridge submerged, is that there were multiple small groups that exited Beringia over the 8,000 or so years it was inhabitable.  Maybe one of those groups included people from Oceana.  Someplace, sometime, as unlikely as it seems, it happened.

The amazing thing is that it’s more than 10,000 miles from Australia to the Aleutian Islands, directly across the Pacific.  Early adventurers would have likely followed a coastal route to be sustainable, which would have been significantly longer.  The fact that they survived and sent their DNA on a long adventure from Australia to Alaska to South America – and it’s still present today is absolutely amazing.

Australia to Aleutians

We know we still have a lot to learn and this is the tip of a very exciting iceberg.  As more contemporary and ancient Native people have their full genomes sequenced, we’ll learn more answers.  The answer is in the DNA.  We just have to sequence enough of it and learn how to understand the message being delivered.

Botocudo Ancient Remains from Brazil

One thing you can always count on in the infant science of population genetics…  whatever you think you know, for sure, for a fact…well….you don’t.  So don’t say too much, too strongly or you’ll wind up having to decide if you’d like catsup with your crow!  Well, not literally, of course.  It’s an exciting adventure that we’re on together and it just keeps getting better and better.  And the times…they are a changin’.

We have some very interesting news to report.  Fortunately, or unfortunately – the news weaves a new, but extremely interesting, mystery.

Ancient Mitochondrial DNA

Back in 2013, a paper, Identification of Polynesian mtdNA haplogroups in remains of Botocudo Amerindians from Brazil, was published that identified both Native American and Polynesian haplogroups in a group of 14 skeletal remains of Botocudo Indians from Brazil whose remains arrived at a Museum in August of 1890 and who, the scientists felt, died in the second half of the 19th century.

Twelve of their mitochondrial haplogroups were the traditional Native haplogroup of C1.

However, two of the skulls carried Polynesian haplogroups, downstream of haplogroup B, specifically B4a1a1a and B4a1a1, that compare to contemporary individuals from Polynesian, Solomon Island and Fijian populations.  These haplotypes had not been found in Native people or previous remains.

Those haplogroups include what is known as the Polynesian motif and are found in Indonesian populations and also in Madagascar, according to the paper, but the time to the most common recent ancestor for that motif was calculated at 9,300 years plus or minus 2000 years.  This suggests that the motif arose after the Asian people who would become the Native Americans had already entered North and South America through Beringia, assuming there were no later migration waves.

The paper discusses several possible scenarios as to how a Polynesian haplotype found its way to central Brazil among a now extinct Native people. Of course, the two options are either pre-Columbian (pre-1500) contact or post-Columbian contact which would infer from the 1500s to current and suggests that the founders who carried the Polynesian motif were perhaps either slaves or sailors.

In the first half of the 1800s, the Botocudo Indians had been pacified and worked side by side with African slaves on plantations.

Beyond that, without full genome sequencing there was no more that could be determined from the remains at that time.  We know they carried a Polynesian motif, were found among Native American remains and at some point in history, intermingled with the Native people because of where they were found.  Initial contact could have been 9,000 years ago or 200.  There was no way to tell.  They did have some exact HVR1 and HVR2 matches, so they could have been “current,” but I’ve also seen HVR1 and HVR2 matches that reach back to a common ancestor thousands of years ago…so an HVR1/HVR2 match is nothing you can take to the bank, certainly not in this case.

Full Genome Sequencing and Y DNA

This week, one on my subscribers, Kalani, mentioned that Felix Immanuel had uploaded another two kits to GedMatch of ancient remains.  Those two kits are indeed two of the Botocudo remains – the two with the Polynesian mitochondrial motif which have now been fully sequenced.  A corresponding paper has been published as well, “Two ancient genomes reveal Polynesian ancestry among the indigenous Botocudos of Brazil” by Malaspinas et al with supplemental information here.

There are two revelations which are absolutely fascinating in this paper and citizen scientist’s subsequent work.

First, their Y haplogroups are C-P3092 and C-Z31878, both equivalent to C-B477 which identifies former haplogroup C1b2.  The Y haplogroups aren’t identified in the paper, but Felix identified them in the raw data files that are available (for those of you who are gluttons for punishment) at the google drive links in Felix’s article Two Ancient DNA from indigenous Botocudos of Brazil.

I’ve never seen haplogroup C1b2 as Native American, but I wanted to be sure I hadn’t missed a bus, so I contacted Ray Banks who is one of the administrators for the main haplogroup C project at Family Tree DNA and also is the coordinator for the haplogroup C portion of the ISOGG tree.

ISOGG y tree

You can see the position of C1b2, C-B477 in yellow on the ISOGG (2015) tree relative to the position of C-P39 in blue, the Native American SNP shown several branches below, both as branches of haplogroup C.

Ray maintains a much more descriptive tree of haplogroup C1 at this link and of C2 at this link.

Ray Banks C1 tree

The branch above is the Polynesian (B477) branch and below, the Native American (P39) branch of haplogroup C.

Ray Banks C2 treeIn addition to confirming the haplogroup that Felix identified, when Ray downloaded the BAM files and analyzed the contents, he found that both samples were also positive for M38 and M208, which moves them downstream two branches from C1b2 (B477).

Furthermore, one of the samples had a mutation at Z32295 which Ray has included as a new branch of the C tree, shown below.

Ray Banks Z32295

Ray indicated that the second sample had a “no read” at Z32295, so we don’t know if he carried this mutation.  Ray mentions that both men are negative for many of the B459 equivalents, which would move them down one more branch.  He also mentioned that about half of the Y DNA sites are missing, meaning they had no calls in the sequence read.  This is common in ancient DNA results.  It would be very interesting to have a Big Y or equivalent test on contemporary individuals with this haplogroup from the Pacific Island region.

Ray notes that all Pacific Islanders may be downstream of Z33295.

Not Admixed

The second interesting aspect of the genomic sequencing is that the remains did not show any evidence of admixture with European, Native American nor African individuals.  More than 97% of their genome fits exactly with the Polynesian motifs.  In other words, they appear to be first generation Polynesians.  They carry Polynesian mitochondrial, Y and autosomal (nuclear) DNA, exclusively.

Botocudo not admixed

In total, 25 Botocudo remains have been analyzed and of those, two have Polynesian ancestry and those two, BOT15 and BOT17, have exclusively Polynesian ancestry as indicated in the graphic above from the paper.

When did they live?  Accelerator mass spectrometry radiocarbon dating with marine correction gives us dates of 1479-1708 AD and 1730-1804 for specimen BOT15 and 1496-1842 for BOT17.

The paper goes on to discuss four possible scenarios for how this situation occurred and the pros and cons of each.

The Polynesian Peru Slave Trade

This occurred between 1862-1864 and can be ruled out because the dates for the skulls predate this trade period, significantly.

The Madagascar-Brazil Slave Trade

The researchers state that Madagascar is known to have been peopled by Southeast Asians and not by Polynesians.  Another factor excluding this option is that it’s known that the Malagasy ancestors admixed with African populations prior to the slave trade.  No such ancestry was detected in the samples, so these individuals were not brought as a result of the Madagascar-Brazil slave trade – contrary to what has been erroneously inferred and concluded.

Voyaging on European Ships as Crew, Passengers or StowAways

Trade on Euroamerican ships in the Pacific only began after 1760 AD and by 1760, Bot15 and Bot17 were already deceased with a probability of .92 and .81, respectively, making this scenario unlikely, but not entirely impossible.

Polynesian Voyaging

Polynesian ancestors originated from East Asia and migrated eastwards, interacting with New Guineans before colonizing the Pacific.  These people did colonize the Pacific, as unlikely as it seems, traveling thousands of miles, reaching New Zealand, Hawaii and Easter Island between 1200 and 1300 AD.  Clearly they did not reach Brazil in this timeframe, at least not as related to these skeletal remains, but that does not preclude a later voyage.

Of the four options, the first two appear to be firmly eliminated which leaves only the second two options.

One of the puzzling aspects of this analysis it the “pure” Polynesian genome, eliminating admixture which precludes earlier arrival.

The second puzzling aspect is how the individuals, and there were at least two, came to find themselves in Minas Gerais, Brazil, and why we have not found this type of DNA on the more likely western coastal areas of South America.

Minas Gerais Brazil

Regardless of how they arrived, they did, and now we know at least a little more of their story.

GedMatch

At GedMatch, it’s interesting to view the results of the one-to-one matching.

Both kits have several matches.  At 5cM and 500 SNPs, kit F999963 has 86 matches.  Of those, the mitochondrial haplogroup distribution is overwhelmingly haplogroup B, specifically B4a1a1 with a couple of interesting haplogroup Ms.

F999963 mito

Y haplogroups are primarily C2, C3 and O.   C3 and O are found exclusively in Asia – meaning they are not Native.

F999963 Y

Kit F999963 matches a couple of people at over 30cM with a generation match estimate just under 5 generations.  Clearly, this isn’t possible given that this person had died by about 1760, according to the paper, which is 255 years or about 8.5-10 generations ago, but it says something about the staying power of DNA segments and probably about endogamy and a very limited gene pool as well.  All matches over 15cM are shown below.

F999963 largest

Kit F999964 matches 97 people, many who are different people that kit F999963 matched.  So these ancient Polynesian people,  F999963 and F999964 don’t appear to be immediate relatives.

F999964 mito

Again, a lot of haplogroup B mitochondrial DNA, but less haplogroup C Y DNA and no haplogroup O individuals.

F999964 Y

Kit F999964 doesn’t match anyone quite as closely as kit F999963 did in terms of total cM, but the largest segment is 12cM, so the generational estimate is still at 4.6,  All matches over 15cM are shown below.

F999964 largest

Who are these individuals that these ancient kits are matching?  Many of these individuals know each other because they are of Hawaiian or Polynesian heritage and have already been working together.  Several of the Hawaiian folks are upwards of 80%, one at 94% and one believed to be 100% Hawaiian.  Some of these matches are to Maori, a Polynesian people from New Zealand, with one believed to be 100% Maori in addition to several admixed Maori.  So obviously, these ancient remains are matching contemporary people with Polynesian ancestry.

The Unasked Question

Sooner or later, we as a community are going to have to face the question of exactly what is Native or aboriginal.  In this case, because we do have the definitive autosomal full genome testing that eliminates admixture, these two individuals are clearly NOT Native.  Without full genomic testing, we would have never known.

But what if they had arrived 200 years earlier, around 1500 AD, one way or another, possibly on an early European ship, and had intermixed with the Native people for 10 generations?  What if they carried a Polynesian mitochondrial (or Y) DNA motif, but they were nearly entirely Native, or so much Native that the Polynesian could no longer be found autosomally?  Are they Native?  Is their mitochondrial or Y DNA now also considered to be Native?  Or is it still Polynesian?  Is it Polynesian if it’s found in the Cook Islands or on Hawaii and Native if found in South America?  How would we differentiate?

What if they arrived, not in 1500 AD, but about the year 500 AD, or 1000 BCE or 2000 BCE or 3000 BCE – after the Native people from Asia arrived but unquestionably before European contact?  Does that make a difference in how we classify their DNA?

We don’t have to answer this yet today, but something tells me that we will, sooner or later…and we might want to start pondering the question.

Acknowledgements: 

I want to thank all of the people involved whose individual work makes this type of comparative analysis possible.  After all, the power of genetic genealogy, contemporary or ancient, is in collaboration.  Without sharing, we have nothing. We learn nothing.  We make no progress.

In addition to the various scientists and papers already noted, special thanks to Felix Immanual for preparing and uploading the ancient files.  This is no small task and the files often take a month of prep each.  Thanks to Kalani for bringing this to my attention.  Thanks to Ray Banks for his untiring work with haplogroup C and for maintaining his haplogroup webpage with specifics about where the various subgroups are found.  Thanks to ISOGG’s volunteers for the haplotree.  Thanks to GedMatch for providing this wonderful platform and tools.  Thanks to everyone who uploads their DNA, and that of their relatives and works on specific types of projects – like Hawaiian and Maori.  Thanks to my haplogroup C-P39 co-administrators, Dr. David Pike and Marie Rundquist, for their contributions to this discussion and for working together on the Native American Haplogroup C-P39 Project.  It’s important to have other people who are passionate about the same subjects to bounce things off of and to work with.  This is the perfect example of the power of collaboration!