Whole Genome Sequencing – Is It Ready for Prime Time?

Dante Labs is offering a whole genomes test for $199 this week as an early Black Friday special.

Please note that just as I was getting ready to push the publish button on this article, Veritas Genetics also jumped on the whole sequencing bandwagon for $199 for the first 1000 testers Nov. 19 and 20th. In this article, I discuss the Dante Labs test. I have NOT reviewed Veritas, their test nor terms, so the same cautions discussed below apply to them and any other company offering whole genome sequencing. The Veritas link is here.

Update – Veritas provides the VCF file for an additional $99, but does not provide FASTQ or BAM files, per their Tweet to me.

I have no affiliation with either company.

$199 (US) is actually a great price for a whole genome test, but before you click and purchase, there are some things you need to know about whole genome sequencing (WGS) and what it can and can’t do for you. Or maybe better stated, what you’ll have to do with your own results before you can utilize the information for genealogical purposes.

The four questions you need to ask yourself are:

  • Why do you want to consider whole genome testing?
  • What question(s) are you trying to answer?
  • What information do you seek?
  • What is your testing goal?

I’m going to say this once now, and I’ll say it again at the end of the article.

Whole genome sequencing tests are NOT A REPLACEMENT FOR GENEALOGICAL DNA TESTS for mitochondrial, Y or autosomal testing. Whole genome sequencing is not a genealogy magic bullet.

There are both pros and cons of this type of purchase, as with most everything. Whole genome tests are for the most experienced and technically savvy genetic genealogists who understand both working with genetics and this field well, who have already taken the vendors’ genealogy tests and are already in the Y, mitochondrial and autosomal comparison data bases.

If that’s you or you’re interested in medical information, you might want to consider a whole genome test.

Let’s start with some basics.

What Is Whole Genome Sequencing?

Whole Genome Sequencing will sequence most of your genome. Keep in mind that humans are more than 99% identical, so the only portions that you’ll care about either medically or genealogically are the portions that differ or tend to mutate. Comparing regions where you match everyone else tells you exactly nothing at all.

Exome Sequencing – A Subset of Whole Genome

Exome sequencing, a subset of whole genome sequencing is utilized for medical testing. The Exome is the region identified as the portions most likely to mutate and that hold medically relevant information. You can read about the benefits and challenges of exome testing here.

I have had my Exome sequenced twice, once at Helix and once at Genos, now owned by NantOmics. Currently, NantOmics does not have a customer sign-in and has acquired my DNA sequence as part of the absorption of Genos. I’ll be writing about that separately. There is always some level of consumer risk in dealing with a startup.

I wrote about Helix here. Helix sequences your Exome (plus) so that you can order a variety of DNA based or personally themed products from their marketplace, although I’m not convinced about the utility of even the legitimacy of some of the available tests, such as the “Wine Explorer.”

On the other hand, the world-class The National Geographic Society’s Genographic Project now utilizes Helix for their testing, as does Spencer Well’s company, Insitome.

You can also pay to download your Exome sequence data separately for $499.

Autosomal Testing for Genealogy

Both whole genome and Exome testing are autosomal testing, meaning that they test chromosomes 1-22 (as opposed to Y and mitochondrial DNA) but the number of autosomal locations varies vastly between the various types of tests.

The locations selected by the genealogy testing companies are a subset of both the whole genome and the Exome. The different vendors that compare your DNA for genealogy generally utilize between 600,000 and 900,000 chip-specific locations that they have selected as being inclined to mutate – meaning that we can obtain genealogically relevant information from those mutations.

Some vendors (for example, 23andMe and Ancestry) also include some medical SNPs (single nucleotide polymorphisms) on their chips, as both have formed medical research alliances with various companies.

Whole genome and Exome sequencing includes these same locations, BUT, the whole genome providers don’t compare the files to other testers nor reduce the files to the locations useful for genealogical comparisons. In other words, they don’t create upload files for you.

The following chart is not to scale, but is meant to convey the concept that the Exome is a subset of the whole genome, and the autosomal vendors’ selected SNPs, although not the same between the companies, are all subsets of the Exome and full genome.

I have not had my whole genome sequenced because I have seen no purpose for doing so, outside of curiosity.

This is NOT to imply that you shouldn’t. However, here are some things to think about.

Whole Genome Sequencing Questions

Coverage – Medical grade coverage is considered to be 30X, meaning an average of 30 scans of every targeted location in your genome. Some will have more and some will have less. This means that your DNA is scanned thirty different times to minimize errors. If a read error happens once or twice, it’s unlikely that the same error will happen several more times. You can read about coverage here and here.

Genomics Education Programme [CC BY 2.0 (https://creativecommons.org/licenses/by/2.

Here’s an example where the read length of Read 1 is 18, and the depth of the location shown in light blue is 4, meaning 4 actual reads were obtained. If the goal was 30X, then this result would be very poor. If the goal was 4X then this location is a high quality result for a 4X read.

In the above example, if the reference value, meaning the value at the light blue location for most people is T, then 4 instances of a T means you don’t have a mutation. On the other hand, if T is not the reference value, then 4 instances of T means that a mutation has occurred in that location.

Dante Labs coverage information is provided from their webpage as follows:

Other vendors coverage values will differ, but you should always know what you are purchasing.

Ownership – Who owns your data? What happens to your DNA itself (the sample) and results (the files) under normal circumstances and if the company is sold. Typically, the assets of the company, meaning your information, are included during any acquisition.

Does the company “share, lease or sell” your information as an additional revenue stream with other entities? If so, do they ask your permission each and every time? Do they perform internal medical research and then sell the results? What, if anything, is your DNA going to be used for other than the purpose for which you purchased the test? What control do you exercise over that usage?

Read the terms and conditions carefully for every vendor before purchasing.

File Delivery – Three types of files are generated during a whole genome test.

The VCF (Variant Call Format) which details your locations that are different from the reference file. A reference file is the “normal” value for humans.

A FASTQ file which includes the nucleotide sequence along with a corresponding quality score. Mutations in a messy area or that are not consistent may not be “real” and are considered false positives.

The BAM (Binary Alignment Map) file is used for Y DNA SNP alignment. The output from a BAM file is displayed in Family Tree DNA’s Big Y browser for their customers. Are these files delivered to you? If so, how? Family Tree DNA delivers their Big Y DNA BAM files as free downloads.

Typically whole genome data is too large for a download, so it is sent on a disc drive to you. Dante provides this disc for BAM and FASTQ files for 59 Euro ($69 US) plus shipping. VCF files are available free, but if you’re going to order this product, it would be a shame not to receive everything available.

Version – Discoveries are still being made to the human genome. If you thought we’re all done with that, we’re not. As new regions are mapped successfully, the addresses for the rest change, and a new genomic map is created. Think of this as street addresses and a new cluster of houses is now inserted between existing houses. All of the houses are periodically renumbered.

Today, typically results are delivered in either of two versions: hg19(GRVH37) or hg38(GRCH38). What happens when the next hg (human genome) version is released?

When you test with a vendor who uses your data for comparison as a part of a product they offer, they must realign your data so that the comparison will work for all of their customers (think Family Tree DNA and GedMatch, for example), but a vendor who only offers the testing service has no motivation to realign your output file for you. You only pay for sequencing, not for any after-the-fact services.

Platform – Multiple sequencing platforms are available, and not all platforms are entirely compatible with other competing platforms. For example, the Illumina platform and chips may or may not be compatible with the Affymetrix platform (now Thermo Fisher) and chips. Ask about chip compatibility if you have a specific usage in mind before you purchase.

Location – Where is your DNA actually being sequenced? Are you comfortable having your DNA sent to that geographic location for processing? I’m personally fine with anyplace in either the US, Canada or most of Europe, but other locations maybe not so much. I’d have to evaluate the privacy policies, applicable laws, non-citizen recourse and track record of those countries.

Last but perhaps most important, what do you want to DO with this file/information?

Utilization

What you receive from whole genome sequencing is files. What are you going to do with those files? How can you use them? What is your purpose or goal? How technically skilled are you, and how well do you understand what needs to be done to utilize those files?

A Specific Medical Question

If you have a particular question about a specific medical location, Dante allows you to ask the question as soon as you purchase, but you must know what question to ask as they note below.

You can click on their link to view their report on genetic diseases, but keep in mind, this is the disease you specifically ask about. You will very likely NOT be able to interpret this report without a genetic counselor or physician specializing in this field.

Take a look at both sample reports, here.

Health and Wellness in General

The Dante Labs Health and Wellness Report appears to be a collaborative effort with Sequencing.com and also appears to be included in the purchase price.

I uploaded both my Exome and my autosomal DNA results from the various testing companies (23andMe V3 and V4, Ancestry V1 and V2, Family Tree DNA, LivingDNA, DNA.Land) to Promethease for evaluation and there was very little difference between the health-related information returned based on my Exome data and the autosomal testing vendors. The difference is, of course, that the Exome coverage is much deeper (and therefore more reliable) because that test is a medical test, not a consumer genealogy test and more locations are covered. Whole genome testing would be more complete.

I wrote about Promethease here and here. Promethease does accept VCF files from various vendors who provide whole genome testing.

None of these tests are designed or meant for medical interpretation by non-professionals.

Medical Testing

If you plan to test with the idea that should your physician need a genetics test, you’re already ahead of the curve, don’t be so sure. It’s likely that your physician will want a genetics test using the latest technology, from their own lab, where they understand the quality measures in place as well as how the data is presented to them. They are unlikely to accept a test from any other source. I know, because I’ve already had this experience.

Genealogical Comparisons

The power of DNA testing for genealogy is comparing your data to others. Testing in isolation is not useful.

Mitochondrial DNA – I can’t tell for sure based on the sample reports, but it appears that you receive your full sequence haplogroup and probably your mutations as well from Dante. They don’t say which version of mitochondrial DNA they utilize.

However, without the ability to compare to other testers in a database, what genealogical benefit can you derive from this information?

Furthermore, mitochondrial DNA also has “versions,” and converting from an older to a newer version is anything but trivial. Haplogroups are renamed and branches sawed from one part of the mitochondrial haplotree and grafted onto another. A testing (only) vendor that does not provide comparisons has absolutely no reason to update your results and can’t be expected to do so. V17 is the current build, released in February 2016, with the earlier version history here.

Family Tree DNA is the only vendor who tests your full sequence mitochondrial DNA, compares it to other testers and updates your results when a new version is released. You can read more about this process, here and how to work with mtDNA results here.

Y DNA – Dante Labs provides BAM files, but other whole genome sequencers may not. Check before you purchase if you are interested in Y DNA. Again, you’ll need to be able to analyze the results and submit them for comparison. If you are not capable of doing that, you’ll need to pay a third party like either YFull or FGS (Full Genome Sequencing) or take the Big Y test at Family Tree DNA who has the largest Y Database worldwide and compares results.

Typically whole genome testers are looking for Y DNA SNPs, not STR values in BAM files. STR (short tandem repeat) values are the results that you receive when you purchase the 37, 67 or 111 tests at Family Tree DNA, as compared to the Big Y test which provides you with SNPs in order to resolve your haplogroup at the most granular level possible. You can read about the difference between SNPs and STRs here.

As with SNP data, you’ll need outside assistance to extract your STR information from the whole genome sequence information, none of which will be able to be compared with the testers in the Family Tree DNA data base. There is also an issue of copy-count standardization between vendors.

You can read about how to work with STR results and matches here and Big Y results here.

Autosomal DNA – None of the major providers that accept transfers (MyHeritage, Family Tree DNA, GedMatch) accept whole genome files. You would need to find a methodology of reducing the files from the whole genome to the autosomal SNPs accepted by the various vendors. If the vendors adopt the digital signature technology recently proposed in this paper by Yaniv Erlich et al to prevent “spoofed files,” modified files won’t be accepted by vendors.

Summary

Whole genome testing, in general, will and won’t provide you with the following:

Desired Feature Whole Genome Testing
Mitochondrial DNA Presumed full haplogroup and mutations provided, but no ability for comparison to other testers. Upload to Family Tree DNA, the only vendor doing comparisons not available.
Y DNA Presume Y chromosome mostly covered, but limited ability for comparison to other testers for either SNPs or STRs. Must utilize either YFull or FGS for SNP/STR analysis. Upload to Family Tree DNA, the vendor with the largest data base not available when testing elsewhere.
Autosomal DNA for genealogy Presume all SNPs covered, but file output needs to be reduced to SNPs offered/processed by vendors accepting transfers (Family Tree DNA, MyHeritage, GedMatch) and converted to their file formats. Modified files may not be accepted in the future.
Medical (consumer interest) Accuracy is a factor of targeted coverage rate and depth of actual reads. Whole genome vendors may or may not provide any analysis or reports. Dante does but for limited number of conditions. Promethease accepts VCF files from vendors and provides more.
Medical (physician accepted) Physician is likely to order a medical genetics test through their own institution. Physicians may not be willing to risk a misdiagnosis due to a factor outside of their control such as an incompatible human genome version.
Files VCF, FASTQ and BAM may or may not be included with results, and may or may not be free.
Coverage Coverage and depth may or may not be adequate. Multiple extractions (from multiple samples) may or may not be included with the initial purchase (if needed) or may be limited. Ask.
Updates Vendors who offer sequencing as a part of a products that include comparison to other testers will update your results version to the current reference version, such as hg38 and mitochondrial V17. Others do not, nor can they be expected to provide that service.
Version Inquire as to the human genome (hg) version or versions available to you, and which version(s) are acceptable to the third party vendors you wish to utilize. When the next version of the human genome is released, your file will no longer be compatible because WGS vendors are offering sequencing only, not results comparisons to databases for genealogy.
Ownership/Usage Who owns your sample? What will it be utilized for, other than the service you ordered, by whom and for what purposes? Will you we able to authorize or decline each usage?
Location Where geographically is your DNA actually being sequenced and stored? What happens to your actual DNA sample itself and the resulting files? This may not be the location where you return your swab kit.

The Question – Will I Order?

The bottom line is that if you are a genealogist, seeking genetic information for genealogical purposes, you’re much better off to test with the standard and well know genealogy vendors who offer compatibility and comparisons to other testers.

If you are a pioneer in this field, have the technical ability required to make use of a whole genome test and are willing to push the envelope, then perhaps whole genome sequencing is for you.

I am considering ordering the Dante Labs whole genome test out of simple curiosity and to upload to Promethease to determine if the whole genome test provides me with something potentially medically relevant (positive or negative) that autosomal and Exome testing did not.

I’m truly undecided. Somehow, I’m having trouble parting with the $199 plus $69 (hard drive delivery by request when ordering) plus shipping for this limited functionality. If I was a novice genetic genealogist or was not a technology expert, I would definitely NOT order this test for the reasons mentioned above.

A whole genome test is not in any way a genealogical replacement for a full sequence mitochondrial test, a Y STR test, a Y SNP test or an autosomal test along with respective comparison(s) in the data bases of vendors who don’t allow uploads for these various functions.

The simple fact that 30X whole genome testing is available for $199 plus $69 plus shipping is amazing, given that 15 years ago that same test cost 2.7 billion dollars. However, it’s still not the magic bullet for genealogy – at least, not yet.

Today, the necessary integration simply doesn’t exist. You pay the genealogy vendors not just for the basic sequencing, but for the additional matching and maintenance of their data bases, not to mention the upgrading of your sequence as needed over time.

If I had to choose between spending the money for the WGS test or taking the genealogy tests, hands down, I’d take the genealogy tests because of the comparisons available. Comparison and collaboration is absolutely crucial for genealogy. A raw data file buys me nothing genealogically.

If I had not previously taken an Exome test, I would order this test in order to obtain the free Dante Health and Wellness Report which provides limited reporting and to upload my raw data file to Promethease. The price is certainly right.

However, keep in mind that once you view health information, you cannot un-see it, so be sure you do really want to know.

What do you plan to do? Are you going to order a whole genome test?

_____________________________________________________________________

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2017 – The Year of DNA

Every year for the past 17 years has been the year of DNA for me, but for many millions, 2017 has been the year of DNA. DNA testing has become a phenomenon in its own right.

It was in 2013 that Spencer Wells predicted that 2014 would be the “year of infection.” Spencer was right and in 2014 DNA joined the ranks of household words. I saw DNA in ads that year, for the first time, not related to DNA testing or health as in, “It’s in our DNA.”

In 2014, it seemed like most people had heard of DNA, even if they weren’t all testing yet. John Q. Public was becoming comfortable with DNA.

In 2017 – DNA Is Mainstream  

If you’re a genealogist, you certainly know about DNA testing, and you’re behind the times if you haven’t tested.  DNA testing is now an expected tool for genealogists, and part of a comprehensive proof statement that meets the genealogical proof standard which includes “a reasonably exhaustive search.”  If you haven’t applied DNA, you haven’t done a reasonably exhaustive search.

A paper trail is no longer sufficient alone.

When I used to speak to genealogy groups about DNA testing, back in the dark ages, in the early 2000s, and I asked how many had tested, a few would raise their hands – on a good day.

In October, when I asked that same question in Ireland, more than half the room raised their hand – and I hope the other half went right out and purchased DNA test kits!

Consequently, because the rabid genealogical market is now pretty much saturated, the DNA testing companies needed to find a way to attract new customers, and they have.

2017 – The Year of Ethnicity

I’m not positive that the methodology some of the major companies utilized to attract new consumers is ideal, but nonetheless, advertising has attracted many new people to genetic genealogy through ethnicity testing.

If you’re a seasoned genetic genealogist, I know for sure that you’re groaning now, because the questions that are asked by disappointed testers AFTER the results come back and aren’t what people expected find their way to the forums that genetic genealogists peruse daily.

I wish those testers would have searched out those forums, or read my comparative article about ethnicity tests and which one is “best” before they tested.

More ethnicity results are available from vendors and third parties alike – just about every place you look it seems.  It appears that lots of folks think ethnicity testing is a shortcut to instant genealogy. Spit, mail, wait and voila – but there is no shortcut.  Since most people don’t realize that until after they test, ethnicity testing is becoming ever more popular with more vendors emerging.

In the spring, LivingDNA began delivering ethnicity results and a few months later, MyHeritage as well.  Ethnicity is hot and companies are seizing a revenue opportunity.

Now, the good news is that perhaps some of these new ethnicity testers can be converted into genealogists.  We just have to view ethnicity testing as tempting bait, or hopefully, a gateway drug…

2017 – The Year of Explosive Growth

DNA testing has become that snowball rolling downhill that morphed into an avalanche.  More people are seeing commercials, more people are testing, and people are talking to friends and co-workers at the water cooler who decide to test. I passed a table of diners in Germany in July to overhear, in English, discussion about ethnicity-focused DNA testing.

If you haven’t heard of DTC, direct to consumer, DNA testing, you’re living under a rock or maybe in a third world country without either internet or TV.

Most of the genetic genealogy companies are fairly closed-lipped about their data base size of DNA testers, but Ancestry isn’t.  They have gone from about 2 million near the end of 2016 to 5 million in August 2017 to at least 7 million now.  They haven’t said for sure, but extrapolating from what they have said, I feel safe with 7 million as a LOW estimate and possibly as many as 10 million following the holiday sales.

Advertising obviously pays off.

MyHeritage recently announced that their data base has reached 1 million, with only about 20% of those being transfers.

Based on the industry rumble, I suspect that the other DNA testing companies have had banner years as well.

The good news is that all of these new testers means that anyone who has tested at any of the major vendors is going to get lots of matches soon. Santa, it seems, has heard about DNA testing too and test kits fit into stockings!

That’s even better news for all of us who are in multiple data bases – and even more reason to test at all of the 4 major companies who provide DNA matching for their customers: Family Tree DNA, Ancestry, MyHeritage and 23andMe.

2017 – The Year of Vendor and Industry Churn

So much happened in 2017, it’s difficult to keep up.

  • MyHeritage entered the DNA testing arena and began matching in September of 2016. Frankly, they had a mess, but they have been working in 2017 to improve the situation.  Let’s just say they still have some work to do, but at least they acknowledge that and are making progress.
  • MyHeritage has a rather extensive user base in Europe. Because of their European draw, their records collections and the ability to transfer results into their data base, they have become the 4th vendor in a field that used to be 3.
  • In March 2017, Family Tree DNA announced that they were accepting transfers of both the Ancestry V2 test, in place since May of 2016, along with the 23andMe V4 test, available since November 2013, for free. MyHeritage has since been added to that list. The Family Tree DNA announcement provided testers with another avenue for matching and advanced tools.
  • Illumina obsoleted their OmniExpress chip, forcing vendors to Illumina’s new GSA chip which also forces vendors to use imputation. I swear, imputation is a swear word. Illumina gets the lump of coal award for 2017.
  • I wrote about imputation here, but in a nutshell, the vendors are now being forced to test only about 20% of the DNA locations available on the previous Illumina chip, and impute or infer using statistics the values in the rest of the DNA locations that they previously could test.
  • Early imputation implementers include LivingDNA (ethnicity only), MyHeritage (to equalize the locations of various vendor’s different chips), DNA.Land (whose matching is far from ideal) and 23andMe, who seems, for the most part, to have done a reasonable job. Of course, the only way to tell for sure at 23andMe is to test again on the V5 chip and compare to V3 and V4 chip matches. Given that I’ve already paid 3 times to test myself at 23andMe (V2, 3 and 4), I’m not keen on paying a 4th time for the V5 version.
  • 23andMe moved to the V5 Illumina GSA chip in August which is not compatible with any earlier chip versions.
  • Needless to say, the Illumina chip change has forced vendors away from focusing on new products in order to develop imputation code in order to remain backwards compatible with their own products from an earlier chip set.
  • GedMatch introduced their sandbox area, Genesis, where people can upload files that are not compatible with the traditional vendor files.  This includes the GSA chip results (23andMe V5,) exome tests and others.  The purpose of the sandbox is so that GedMatch can figure out how to work with these files that aren’t compatible with the typical autosomal test files.  The process has been interesting and enlightening, but people either don’t understand or forget that it’s a sandbox, an experiment, for all involved – including GedMatch.  Welcome to living on the genetic frontier!

  • I assembled a chart of who loves who – meaning which vendors accept transfers from which other vendors.

  • I suspect but don’t know that Ancestry is doing some form of imputation between their V1 and V2 chips. About a month before their new chip implementation in May of 2016, Ancestry made a change in their matching routine that resulting in a significant shift in people’s matches.

Because of Ancestry’s use of the Timber algorithm to downweight some segments and strip out others altogether, it’s difficult to understand where matching issues may arise.  Furthermore, there is no way to know that there are matching issues unless you and another individual have transferred results to either Family Tree DNA or GedMatch, neither of which remove any matching segments.

  • Other developments of note include the fact that Family Tree DNA moved to mitochondrial DNA build V17 and updated their Y DNA to hg38 of the human reference genome – both huge undertakings requiring the reprocessing of customer data. Think of both of those updates as housekeeping. No one wants to do it, but it’s necessary.
  • 23andMe FINALLY finished transferring their customer base to the “New Experience,” but many of the older features we liked are now gone. However, customers can now opt in to open matching, which is a definite improvement. 23andMe, having been the first company to enter the genetic genealogy autosomal matching marketspace has really become lackluster.  They could have owned this space but chose not to focus on genealogy tools.  In my opinion, they are now relegated to fourth place out of a field of 4.
  • Ancestry has updated their Genetic Communities feature a couple of times this year. Genetic Communities is interesting and more helpful than ethnicity estimates, but neither are nearly as helpful as a chromosome browser would be.

  • I’m sure that the repeated requests, begging and community level tantrum throwing in an attempt to convince Ancestry to produce a chromosome browser is beyond beating a dead horse now. That dead horse is now skeletal, and no sign of a chromosome browser. Sigh:(
  • The good news is that anyone who wants a chromosome browser can transfer their results to Family Tree DNA or GedMatch (both for free) and utilize a chromosome browser and other tools at either or both of those locations. Family Tree DNA charges a one time $19 fee to access their advanced tools and GedMatch offers a monthly $10 subscription. Both are absolutely worth every dime. The bad news is, of course, that you have to convince your match or matches to transfer as well.
  • If you can convince your matches to transfer to (or test at) Family Tree DNA, their tools include phased Family Matching which utilizes a combination of user trees, the DNA of the tester combined with the DNA of family matches to indicate to the user which side, maternal or paternal (or both), a particular match stems from.

  • Sites to keep your eye on include Jonny Perl’s tools which include DNAPainter, as well as Goran Rundfeldt’s DNA Genealogy Experiment.  You may recall that in October Goran brought us the fantastic Triangulator tool to use with Family Tree DNA results.  A few community members expressed concern about triangulation relative to privacy, so the tool has been (I hope only temporarily) disabled as the involved parties work through the details. We need Goran’s triangulation tool! Goran has developed other world class tools as well, as you can see from his website, and I hope we see more of both Goran and Jonny in 2018.
  • In 2017, a number of new “free” sites that encourage you to upload your DNA have sprung up. My advice – remember, there really is no such thing as a free lunch.  Ask yourself why, what’s in it for them.  Review ALL OF THE documents and fine print relative to safety, privacy and what is going to be done with your DNA.  Think about what recourse you might or might not have. Why would you trust them?

My rule of thumb, if the company is outside of the US, I’m immediately slightly hesitant because they don’t fall under US laws. If they are outside of Europe or Canada, I’m even more hesitant.  If the company is associated with a country that is unfriendly to the US, I unequivocally refuse.  For example, riddle me this – what happens if a Chinese (or fill-in-the-blank country) company violates an agreement regarding your DNA and privacy?  What, exactly, are you going to do about it from wherever you live?

2017 – The Year of Marketplace Apps

Third party genetics apps are emerging and are beginning to make an impact.

GedMatch, as always, has continued to quietly add to their offerings for genetic genealogists, as had DNAGedcom.com. While these two aren’t exactly an “app”, per se, they are certainly primary players in the third party space. I use both and will be publishing an article early in 2018 about a very useful tool at DNAGedcom.

Another application that I don’t use due to the complex setup (which I’ve now tried twice and abandoned) is Genome Mate Pro which coordinates your autosomal results from multiple vendors.  Some people love this program.  I’ll try, again, in 2018 and see if I can make it all the way through the setup process.

The real news here are the new marketplace apps based on Exome testing.

Helix and their partners offer a number of apps that may be of interest for consumers.  Helix began offering a “test once, buy often” marketplace model where the consumer pays a nominal price for exome sequencing ($80), significantly under market pricing ($500), but then the consumer purchases DNA apps through the Helix store. The apps access the original DNA test to produce results. The consumer does NOT receive their downloadable raw data, only data through the apps, which is a departure from the expected norm. Then again, the consumer pays a drastically reduced price and downloadable exome results are available elsewhere for full price.

The Helix concept is that lots of apps will be developed, meaning that you, the consumer, will be interested and purchase often – allowing Helix to recoup their sequencing investment over time.

Looking at the Helix apps that are currently available, I’ve purchased all of the Insitome products released to date (Neanderthal, Regional Ancestry and Metabolism), because I have faith in Spencer Wells and truthfully, I was curious and they are reasonably priced.

Aside from the Insitome apps, I think that the personalized clothes are cute, if extremely overpriced. But what the heck, they’re fun and raise awareness of DNA testing – a good thing! After all, who am I to talk, I’ve made DNA quilts and have DNA clothing too.

Having said that, I’m extremely skeptical about some of the other apps, like “Wine Explorer.”  Seriously???

But then again, if you named an app “I Have More Money Than Brains,” it probably wouldn’t sell well.

Other apps, like Ancestry’s WeRelate (available for smartphones) is entertaining, but is also unfortunately EXTREMELY misleading.  WeRelate conflates multiple trees, generally incorrectly, to suggest to you and another person on your Facebook friends list are related, or that you are related to famous people.  Judy Russell reviews that app here in the article, “No, actually, we’re not related.” No.  Just no!

I feel strongly that companies that utilize our genetic data for anything have a moral responsibility for accuracy, and the WeRelate app clearly does NOT make the grade, and Ancestry knows that.  I really don’t believe that entertaining customers with half-truths (or less) is more important than accuracy – but then again, here I go just being an old-fashioned fuddy dud expecting ethics.

And then, there’s the snake oil.  You knew it was going to happen because there is always someone who can be convinced to purchase just about anything. Think midnight infomercials. The problem is that many consumers really don’t know how to tell snake oil from the rest in the emerging DNA field.

You can now purchase DNA testing for almost anything.  Dating, diet, exercise, your taste in wine and of course, vitamins and supplements. If you can think of an opportunity, someone will dream up a test.

How many of these are legitimate or valid?  Your guess is as good as mine, but I’m exceedingly suspicious of a great many, especially those where I can find no legitimate scientific studies to back what appear to be rather outrageous claims.

My main concern is that the entire DTC testing industry will be tarred by the brush of a few unethical opportunists.

2017 – The Year of Focus on Privacy and Security

With increased consumer exposure comes increased notoriety. People are taking notice of DNA testing and it seems that everyone has an opinion, informed or not.  There’s an old saying in marketing; “Talk about me good, talk about me bad, just talk about me.”

With all of the ads have come a commensurate amount of teeth gnashing and “the-sky-is-falling” type reporting.  Unfortunately, many politicians don’t understand this industry and open mouth only to insert foot – except that most people don’t realize what they’ve done.  I doubt that the politicians even understand that they are tasting toe-jam, because they haven’t taken the time to research and understand the industry. Sound bites and science don’t mix well.

The bad news is that next, the click-bait-focused press picks up on the stories and the next time you see anyone at lunch, they’re asking you if what they heard is true.  Or, let’s hope that they ask you instead of just accepting what they heard as gospel. Hopefully if we’ve learned anything in this past year, it’s to verify, verify, verify.

I’ve been an advocate for a very long time of increased transparency from the testing companies as to what is actually done with our DNA, and under what circumstances.  In other words, I want to know where my DNA is and what it’s being used for.  Period.

Family Tree DNA answered that question succinctly and unquestionably in December.

Bennett Greenspan: “We could probably make a lot of money by selling the DNA data that we’ve been collecting over the years, but we feel that the only person that should have your DNA information is you.  We don’t believe that it should be sold, traded or bartered.”

You can’t get more definitive than that.

DTC testing for genetic genealogy must be a self-regulating field, because the last thing we need is for the government to get involved, attempting to regulate something they don’t understand.  I truly believe government interference by the name of regulation would spell the end of genetic genealogy as we know it today.  DNA testing for genetic genealogy without sharing results is entirely pointless.

I’ve written about this topic in the past, but an update is warranted and I’ll be doing that sometime after the first of the year.  Mostly, I just need to be able to stay awake while slogging through the required reading (at some vendor sites) of page after page AFTER PAGE of legalese😊

Consumers really shouldn’t have to do that, and if they do, a short, concise summary should be presented to them BEFORE they purchase so that they can make a truly informed decision.

Stay tuned on this one.

2017 – The Year of Education

The fantastic news is that with all of the new people testing, a huge, HUGE need for education exists.  Even if 75% of the people who test don’t do anything with their results after that first peek, that still leaves a few million who are new to this field, want to engage and need some level of education.

In that vein, seminars are available through several groups and institutes, in person and online.  Almost all of the leadership in this industry is involved in some educational capacity.

In addition to agendas focused on genetic genealogy and utilizing DNA personally, almost every genealogy conference now includes a significant number of sessions on DNA methods and tools. I remember the days when we were lucky to be allowed one session on the agenda, and then generally not without begging!

When considering both DNA testing and education, one needs to think about the goal.  All customer goals are not the same, and neither are the approaches necessary to answer their questions in a relevant way.

New testers to the field fall into three primary groups today, and their educational needs are really quite different, because their goals, tools and approaches needed to reach those goals are different too.

Adoptees and genealogists employ two vastly different approaches utilizing a common tool, DNA, but for almost opposite purposes.  Adoptees wish to utilize tests and trees to come forward in time to identify either currently living or recently living people while genealogists are interested in reaching backward in time to confirm or identify long dead ancestors. Those are really very different goals.

I’ve illustrated this in the graphic above.  The tester in question uses their blue first cousin match to identify their unknown parent through the blue match’s known lineage, moving forward in time to identify the tester’s parent.  In this case, the grandparent is known to the blue match, but not to the yellow tester. Identifying the grandparent through the blue match is the needed lynchpin clue to identify the unknown parent.

The yellow tester who already knows their maternal parent utilizes their peach second cousin match to verify or maybe identify their maternal great-grandmother who is already known to the peach match, moving backwards in time. Two different goals, same DNA test.

The three types of testers are:

  • Curious ethnicity testers who may not even realize that at least some of the vendors offer matching and other tools and services.
  • Genealogists who use close relatives to prove which sides of trees matches come from, and to triangulate matching segments to specific ancestors. In other words, working from the present back in time. The peach match and line above.
  • Adoptees and parent searches where testers hope to find a parent or siblings, but failing that, close relatives whose trees overlap with each other – pointing to a descendant as a candidate for a parent. These people work forward in time and aren’t interested in triangulation or proving ancestors and really don’t care about any of those types of tools, at least not until they identify their parent.  This is the blue match above.

What these various groups of testers want and need, and therefore their priorities are different in terms of their recommendations and comments in online forums and their input to vendors. Therefore, you find Facebook groups dedicated to Adoptees, for example, but you also find adoptees in more general genetic genealogy groups where genealogists are sometimes surprised when people focused on parent searches downplay or dismiss tools such as Y DNA, mitochondrial DNA and chromosome browsers that form the bedrock foundation of what genealogists need and require.

Fortunately, there’s room for everyone in this emerging field.

The great news is that educational opportunities are abundant now. I’m listing a few of the educational opportunities for all three groups of testers, in addition to my blog of course.😊

Remember that this blog is fully searchable by keyword or phrase in the little search box in the upper right hand corner.  I see so many questions online that I’ve already answered!

Please feel free to share links of my blog postings with anyone who might benefit!

Note that these recommendations below overlap and people may well be interested in opportunities from each group – or all!!

Ethnicity

Adoptees or Parent Search

Genetic Genealogists

2018 – What’s Ahead? 

About midyear 2018, this blog will reach 1000 published articles. This is article number 939.  That’s amazing even to me!  When I created this blog in July of 2012, I wasn’t sure I’d have enough to write about.  That certainly has changed.

Beginning shortly, the tsunami of kits that were purchased during the holidays will begin producing matches, be it through DNA upgrades at Family Tree DNA, Big Y tests which were hot at year end, or new purchases through any of the vendors.  I can hardly wait, and I have my list of brick walls that need to fall.

Family Tree DNA will be providing additional STR markers extracted from the Big Y test. These won’t replace any of the 111 markers offered separately today, because the extraction through NGS testing is not as reliable as direct STR testing for those markers, but the Big Y will offer genealogists a few hundred more STRs to utilize. Yes, I said a few hundred. The exact number has not yet been finalized.

Family Tree DNA says they will also be introducing new “qualify of life improvements” along with new privacy and consent settings.  Let’s hope this means new features and tools will be released too.

MyHeritage says that they are introducing new “Discoveries” pages and a chromosome browser in January.  They have also indicated that they are working on their matching issues.  The chromosome browser is particularly good news, but matching must work accurately or the chromosome browser will show erroneous information.  Let’s hope January brings all three features.

LivingDNA indicates that they will be introducing matching in 2018.

2018 – What Can You Do?

What can you do in 2018 to improve your odds of solving genealogy questions?

  • Test relatives
  • Transfer your results to as many data bases as possible (among the ones discussed above, after reading the terms and conditions, of course)
  • If you have transferred a version of your DNA that does not produce full results, such as the Ancestry V2 or 23andMe V4 test to Family Tree DNA, consider testing on the vendor’s own chip in order to obtain all matches, not just the closest matches available from an incompatible test transfer.
  • Test Y and mitochondrial DNA at Family Tree DNA.
  • Find ways to share the stories of your ancestors.  Stories are cousin bait.  My 52 Ancestors series is living proof.  People find the stories and often have additional facts, information or even photos. Some contacts qualify for DNA testing for Y or mtDNA lines. The GREAT NEWS is that Amy Johnson Crow is resuming the #52Ancestors project for 2018, providing hints and tips each week! Who knows what you might discover by sharing?! Here’s how to start a blog if you need some assistance.  It’s easy – really!
  • Focus on the brick walls that you want to crumble and then put together both a test and analysis plan. That plan could include such things as:

o   Find out if a male representing a Y line in your tree has tested, and if not, search through autosomal results to see if a male from that paternal surname line has tested and would be amenable to an upgrade.

o   Mitochondrial DNA test people who descend through all females from various female ancestors in order to determine their origins. Y and mtDNA tests are an important part of a complete genealogy story – meaning the reasonably exhaustive search!

o   Autosomal DNA test family members from various lines with the hope that matches will match you and them both.

o   Test family members in order to confirm a particular ancestor – preferably people who descend from another child of that ancestor.

o   Making sure your own DNA is in all 4 of the major vendors’ data bases, plus GedMatch. Look at it this way, everyone who is at GedMatch or at a third party (non-testing) site had to have tested at one of the major 4 vendors – so if you are in all of the vendor’s data bases, plus GedMatch, you’re covered.

Have a wonderful New Year and let’s make 2018 the year of newly discovered ancestors and solved mysteries!

_____________________________________________________________________

Standard Disclosure

This standard disclosure appears at the bottom of every article in compliance with the FTC Guidelines.

Hot links are provided to Family Tree DNA, where appropriate.  If you wish to purchase one of their products, and you click through one of the links in an article to Family Tree DNA, or on the sidebar of this blog, I receive a small contribution if you make a purchase.  Clicking through the link does not affect the price you pay.  This affiliate relationship helps to keep this publication, with more than 900 articles about all aspects of genetic genealogy, free for everyone.

I do not accept sponsorship for this blog, nor do I write paid articles, nor do I accept contributions of any type from any vendor in order to review any product, etc.  In fact, I pay a premium price to prevent ads from appearing on this blog.

When reviewing products, in most cases, I pay the same price and order in the same way as any other consumer. If not, I state very clearly in the article any special consideration received.  In other words, you are reading my opinions as a long-time consumer and consultant in the genetic genealogy field.

I will never link to a product about which I have reservations or qualms, either about the product or about the company offering the product.  I only recommend products that I use myself and bring value to the genetic genealogy community.  If you wonder why there aren’t more links, that’s why and that’s my commitment to you.

Thank you for your readership, your ongoing support and for purchasing through the affiliate link if you are interested in making a purchase at Family Tree DNA, or one of the affiliate links below:

Affiliate links are limited to:

Black Friday, Holiday and DNA Sales by Any Other Names

Now that DNA testing has gone mainstream, with more and more people interested and testing – it’s the perfect time to purchase kits for yourself and family.

Remember, genetic genealogy is a team sport and the more people who test, the more successful everyone will be!

This is the first year that there have been numerous companies having pre-holiday sales, Black Friday sales, Cyber Sales and any other kind of sale they can have to attract attention.  A rose by any other name is still a sale😊

My first suggestion is to stay mainstream.  Because of the popularity of DNA testing, many new companies are jumping on the bandwagon with somewhat questionable products.  Don’t get caught up purchasing something you really didn’t mean to purchase and whose results are sketchy, at best.

Therefore, I’m listing the companies I consider to be mainstream below, whether or not I’m 100% comfortable with their products or terms and conditions.  As always, the companies I link to, I do recommend and feel that their products bring the best value to consumers transparently and without other agendas.  You can read more about the individual companies and their products as I’ve discussed their products and services over time by utilizing the little search icon at the right hand side of the blog page.

Who To Test With?

My recommendation is to unquestionably take the following genealogy tests, minimally:

  • Autosomal DNA (Family Finder test) at Family Tree DNA includes ethnicity, matching and advanced tools
  • Y DNA Test (males only) at Family Tree DNA for patrilineal line, includes haplogroup estimate and matching
  • Mitochondrial DNA Test at Family Tree DNA for matrilineal line includes matching and haplogroup
  • AncestryDNA autosomal test includes ethnicity and matching

There is an entire range of secondary testing companies that I would add after that, with the autosomal matching tests the highest priority:

  • MyHeritage autosomal test includes matching and ethnicity
  • 23andMe autosomal test includes matching, ethnicity and haplogroups

Other tests don’t provide matching, but do provide interesting features:

Not a testing company, but genealogy research provided by:

Last, a new startup company with cool DNA gear:

If you want to research the pros, cons and details of the tests and what each company offers, please read these two articles:

If you’re an adoptee or looking for an unidentified parent or grandparent, you’ll want to test at all 4 companies that provide matching to other testers:

Ready, set, go….sales!

The Sales

Let’s look at the sales being offered at each company.

Family Tree DNA

Family Tree DNA has announced a Black Friday sale on their Family Finder autosomal test priced at $49 which you can order here.

However, many other tests are on sale as well and will continue to be on sale throughout the holiday season.

Family Tree DNA’s holiday sale began on November 12th and will continue through the end of the year.  Sale items include Y and mitochondrial DNA, their autosomal Family Finder test, and some upgrades – most notably – the Big Y which includes a free upgrade to a 111 STR test.

Their autosomal Family Finder test includes ethnicity, matching to relatives as well as a dozen or so tools to help you with your genealogy.

Family Tree DNA is definitely the most sophisticated testing company, providing the most tools without the need for an added subscription.

In addition to their Holiday Sale, they post a Holiday Rewards coupon to the personal page of everyone who have already tested.  I provide mine from the multiple accounts I manage weekly for people to share.

Recent articles about the Big Y testing and sales include:

If you’ve every considered Y DNA testing (for males) or you have already tested and would like to purchase the Big Y, now is definitely the time.

Ancestry

Ancestry.com autosomal DNA kits are on sale for $79 in the US.

Ancestry’s Black Friday/Cyber Monday sale provides the same kit for £49 in the UK.

These kits include both ethnicity and matching, but please be aware that only about half of the features are available without at least a minimal subscription.

Be sure to review the terms and conditions carefully before purchase to assure that you are comfortable with the ways in which your DNA may be shared with other entities.

MyHeritage

The MyHeritage autosomal test is on sale for $49 but the sale only runs through November 27th. They are also offering free shipping on 3 kits or more.

You can order here.

23andMe

23andMe is offering their autosomal test which includes ethnicity and matching at the price of 2 for $49 each for their Ancestry Service kit which is genealogy only, without the health traits.  Their Health plus Ancestry remains at its normal price.

Be sure to review the terms and conditions carefully before purchase to assure that you are comfortable with the ways in which your DNA may be shared with other entities.

Genographic Project

The Genographic Project kit which provides ethnicity plus Y (males only) and mitochondrial DNA haplogroups (males and females) regularly for $99.95, but reduced to $69 this weekend. The Genographic project does not provide matching but does support open research.

This price reflects that the Helix processing and kit is actually free, and you are only paying for the Genographic app.

LivingDNA

The LivingDNA test which provides ethnicity results focused on the British Isles plus Y (males only) and mitochondrial DNA haplogroups (males and females) is regularly offered for $159, but is $89 for Black Friday.

Insitome

First purchase only, $80 off plus free shipping.  What this really means is that you are receiving the Helix text kit for free and are only paying for the Insitome app, which is ALSO on sale.

I recently reviewed the Neanderthal and Metabolism apps here.

Insitome is announcing today that they are adding a third product focusing on Regional Ancestry.

Want a sneak peek? Here you go, compliments of Insitome!

In addition to the map above, testers will be receiving a migration map as well

I don’t have my own results yet to share with you, but as soon as I do, guaranteed, I’ll be writing an article.

You can order the Regional Ancestry product now for $19.99, but results won’t be available for delivery until around January 8th. The best deal is this weekend, but after Cyber Monday, the Ancestry Regional app is still on sale, as follows

  • From Black Friday – Cyber Monday
    • You get a free Helix DNA kit + shipping
    • First time purchasers get it for $19.99
    • 2nd time purchasers get it for $19.99
  • From Tuesday, November 28th – December 12th
    • You get free shipping from Helix
    • First time purchasers get it for $59.99
    • 2nd time purchasers get it for $19.99

I don’t think the $19 price is supposed to be available until Black Friday, but I notice it’s available now if you click on the “Order for myself” button through this link.  The price is adjusted in the shopping car. Click here to order.

Legacy Tree Genealogists

Legacy Tree Genealogists doesn’t do DNA testing, but they do a great job of genealogy research, especially if you have a brick wall.  In my case, this occurs with overseas research where I don’t know the language, the customs or even where records are kept.

Legacy Tree’s DNA related specialty is with adoptee and missing parent searches.  Their staff does include an awesome specialist in this type of research, Paul Woodbury.

To purchase genealogy research, or to obtain a quote, click here and use the code CYBER100 to obtain $100 off through November 29th. If you miss the Cyber Sale, you can always get $50 off by using this link and telling them Roberta referred you.

DNAGeeks

New to the scene, DNAGEEKS, founded by geneticists David Mittelman and Razib Kahn, doesn’t offer a DNA test, but does offer DNA themed garb, gadgets and coming soon, educational items. As everyone knows, I’m a HUGE fan of education and anything to encourage people to ask questions and become interested in DNA and DNA testing is wonderful

Also, DNAGEEKS gets the 2017 award for the coolest website picture, above!

My personal favorite item is the orange helix t-shirt – and yes, I’m ordering one.  Not even waiting for Santa!

I suggested to David Mittelman, that I would really like a helix cover for my iPhone.  A few hours later, he e-mailed me with this new product. I’m so geeked – pardon the pun. The great news is that you can order one too!

What do you think?  Your phone is the ONE thing everyone sees – so why not make a statement!

To order either the t-shirt or the phone case, click on this link, then Products, then Science Outreach Gear – but wait, there’s a coupon too.

A big thank you to DNAGEEKS for a special coupon only for my blog followers that gets you 15% off of anything Black Friday through Cyber Monday – just enter the following coupon code at checkout:

dnaexplained17

You can click here to view all of DNAGEEKS cool items and don’t forget the code.

_____________________________________________________________________

Standard Disclosure

This standard disclosure appears at the bottom of every article in compliance with the FTC Guidelines.

Hot links are provided to Family Tree DNA, where appropriate.  If you wish to purchase one of their products, and you click through one of the links in an article to Family Tree DNA, or on the sidebar of this blog, I receive a small contribution if you make a purchase.  Clicking through the link does not affect the price you pay.  This affiliate relationship helps to keep this publication, with more than 900 articles about all aspects of genetic genealogy, free for everyone.

I do not accept sponsorship for this blog, nor do I write paid articles, nor do I accept contributions of any type from any vendor in order to review any product, etc.  In fact, I pay a premium price to prevent ads from appearing on this blog.

When reviewing products, in most cases, I pay the same price and order in the same way as any other consumer. If not, I state very clearly in the article any special consideration received.  In other words, you are reading my opinions as a long-time consumer and consultant in the genetic genealogy field.

I will never link to a product about which I have reservations or qualms, either about the product or about the company offering the product.  I only recommend products that I use myself and bring value to the genetic genealogy community.  If you wonder why there aren’t more links, that’s why and that’s my commitment to you.

Thank you for your readership, your ongoing support and for purchasing through the affiliate link if you are interested in making a purchase at Family Tree DNA, or one of the affiliate links below:

Affiliate links are limited to:

Insitome’s Fun Neanderthal and Metabolism Apps

Insitome, pronounced In-sight-ome, as described here, a startup by Spencer Wells, former Director of The Genographic Project, is offering two (and soon more) apps that I found quite interesting.

Insitome partners with Helix, so you’re really working with two different companies, but it’s relatively transparent to the consumer.  Helix sequences your exome for a one time cost that is significantly under market price.

This article explains the relationship between Helix and Insitome.  If you google the title of the article, shown in the link below, you can then see the article behind the paywall for free. Yes, I’m quoted in the article, along with Spencer Wells, of course.

https://www.genomeweb.com/sequencing/insitome-launches-first-app-helix-questions-remain-about-impact-ancestry-test-providers

However, with Helix, you CANNOT obtain your raw Exome data to download and use as you wish.  The reason that Exome sequencing is offered by Helix at an artificially low price ($80 versus about $500) is that Helix provides a new marketplace model where Helix and their various partners are hoping to recoup Helix’s Exome processing investment when you purchase multiple application products from their partners – kind of like the Apple app store.

Hence, the Insitome motto “One and never done.”

This marketplace model means that you sequence your Exome once through Helix, and then purchase applications from partner developers like Insitome who utilize your Exome sequence to provide you with an array of results. You don’t purchase the Exome sequencing separately, it’s generally included with your first app purchase, and then future app purchases are simply add-ons.

By way of example, let’s just say that all apps cost $50. (They actually range widely from lower to higher.)  Your first app would cost $50 plus $80 for the Exome test for a total of $130.  Your second and all future apps would only cost $50.

I do have some thoughts to share on the Helix model, which I will do in a future article, but for now, I just want to share with you my Neanderthal and Metabolism results that I purchased through Insitome.

These were a lot of fun!

Neanderthal

As a history buff, I have always been very interested in Neanderthals – an interest which was multiplied exponentially when it was discovered that Neanderthals didn’t die out, just another dead branch on the human tree. Instead, Neanderthals assimilated into the European and Asian populations, along with their cousins, the Denisovans to become part of who we are today, assuming you have any European or Asian heritage.

I wrote about the Neanderthal discovery and what it means to us in the following articles:

Insitome Insights

Insitome’s platform is called Insights and is focused on providing you, the consumer, with insights into yourself.

Today, you can purchase two apps, the Neanderthal and Metabolism apps, and as you can see, there are more apps in the development stages. That’s the blurred out block.  I strained to see, but no luck!

Let’s see what the two apps available today tell me about myself.

I’m always looking for more insight, pardon that pun😊

Neanderthal

I was excited to see what Insitome had to say about my Neanderthal heritage.  Let that sink in for a minute.

Neanderthal HERITAGE.

Yes, in me.  I’ll never know their names, but pieces of those ancestors from tens of thoursands of years ago remain inside of me today – running in my veins! Enough to be recognizable when compared to the genomes recovered from Neanderthal and Denisovan bones.

When I was tested several years ago by the Genographic project, I received an initial Neanderthal percentage breakdown, but now, I’m going to be able to identify which of my traits are thanks to my Neanderthal ancestors.

Drum roll….

So, I carry 1.1% Neanderthal DNA. That’s less than I thought.

It’s absolutely imperative that you click on the “Begin Story” blue link just below your percentages.  In fact, this may just be the very best part of this app.  I would expect no less from Spencer Wells.

Your story is also interactive so in the section where the story discusses the adaptations for hair and skin color (pigmentation), and why they occurred, you can click to see your own result at the proper place.

It’s interesting that my Neanderthal results are smaller with Insitome than they were with the Genographic Project where I’m reported to be .8% Neanderthal and 1.4% Denisovan for a combined total of 2.2%.

Insitome refers to Denisovans as Eastern Neanderthal, so their 1.1% combines the Neanderthal and Denisovan.

What the Genographic Project does not provide is the breakdown of which of my traits are Neanderthal and which are Modern Human.

Insitome does.

And here’s the detail to be discovered by clicking on the trait itself, in this case, “Learning.”

I can then view my full history.

Interesting, there are 14 genes in total that comprise this cluster which I inherited from my Neanderthal forbearers.

Sure enough, further research shows that TANC1 is reported to be the center of visual learning. Isn’t it ironic that the Neanderthals were stereotyped to be lumbering, almost “pre-human,” unintelligent and their language was assumed to be a series of grunts with no perceptible words. We’re now learning more about our ancestors and they don’t seem to be nearly as primitive as first supposed.

Next, let’s look at Pathogen Recognition.

Again, clicking on “Read More” displays the full history which is just fascinating.

It’s interesting to think that my Neanderthal immune receptors for pathogen recognition may be the only reason I’m here today.  It makes me wonder how many times that this Neanderthal remnant saved the day, and no one ever knew, until now!

Metabolism

The second Insitome app that I purchased is Metabolism.

I need to tell you, up front, the same thing I told Spencer Wells. I’m extremely apprehensive about metabolism applications and claims made regarding metabolism and nutrition, especially those made by someone with something to sell you afterwards – like supplements.

Spencer told me that the Insitome app is nothing like that, so I purchased it to see.  He was right – the Insitome app tells me which of 8 metabolism traits I inherited from either the Hunter-Gatherer or the Farmer group of people.

In the history of humans, hunter-gatherers preceded farmers.  Farming began in the Fertile Crescent about 10,000 years ago and then slowly worked its way to Europe. Both of these groups had specific metabolic traits that their descendants carry today.

As with the Neanderthal app, please click on “Begin Story” for the fascinating history behind the information.

Did you know that your brain utilizes roughly 25% of your daily calorie intake?  Neither did I!

And beer, beer is a part of my heritage.

I knew it!

Well, let’s just say that explains a lot.

Look, both Alcohol Flush and Alcohol Tolerance are traits that one inherits from either their Hunter-Gatherer ancestors or their Farmer ancestors.

I carry the Hunter-Gatherer version of both alcohol related traits – meaning the more ancient versions.

This means I get sick more slowly from drinking too much alcohol.

Um, is that a good thing or a bad thing? I’m not sure.

Summary

You can see for yourself which of the following traits are inherited from your Neanderthal ancestors:

  • Pigmentation
  • Sun Damage Repair
  • Torso Shape
  • Learning
  • Fat Storage
  • High Altitude Adaptation
  • Interpreting Immune Signals
  • Pathogen Recognition
  • Viral Immune Response
  • Muscle Growth and Development

Which ones do you think you have that are Neanderthal?

As far as Metabolism is concerned, you will learn which of the following traits are the older Hunter-Gatherer or the younger Farmer.

  • Alcohol Flush
  • Alcohol Tolerance
  • Caffeine Metabolism
  • Calcium Absorption
  • Fat Synthesis
  • Glucose Tolerance
  • Vitamin D Absorption

If you’re going to order these tests, play a little game and write down which traits will be Neanderthal versus Modern Human and Hunter-Gatherer versus Farmer versions.

Then, order your kit or kits below and see if you were right.

  • Insitome’s Metabolism including Helix processing at $119.99 or $39.99 if you’ve already had Helix sequence your DNA.  However, right now, the Cyber Sale is in effect until November 27th and Helix processing is free, meaning the entire price for this app is only $39.99 and shipping is free too.
  • Insitome’s Neanderthal including Helix processing for $199.99 or $29.99 if you’ve already had Helix sequence your DNA.  The Cyber sale means that the total cost for this app is only $29.99 which includes Helix processing and shipping.

To get the Cyber Sale prices for these apps, just click on the blue links above and then on the “Order” button, and your promo code is automatically applied, adjusting the price accordingly.

Hmmm, I’m wondering if my kids and grandkids would like this for Christmas! Education disguised as fun. Maybe the adults could test the alcohol flush reaction as part of our own family scientific study.

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Helix Sale

Helix is a startup company (funded in part by the DNA testing juggernaut, Illumina) that is offering a marketplace approach to DNA testing.

This means you pay for the initial Exome sequencing through Helix, then you pay for apps from companies that develop applications, much like the app stores.

I will be reporting on my Neanderthal and Metabolism results soon, but Helix has launched a 2 day sale (ending November 9th) that is the best Exome pricing I’ve ever seen anyplace – and If you are interested, I don’t want you to miss the opportunity.

However, and this is a big however, you do NOT receive your raw data results, so you can’t download and use those results for genealogy or health outside of applications available for purchase through Helix affiliates.

If you are interested in testing for other types of information offered through Helix affiliate company applications, you may be interested in this sale.

Here’s how the Helix marketplace works:

You purchase an application and bundled into that price is both the Helix exome sequencing and the app itself.

On the Helix site, click on the various icons under the “shop” tab to see the regular and sale pricing.

At this point, the only three tests that I have confidence in are the Neanderthal and Metabolism apps by Insitome (a startup by Spencer Wells, former Director of the Genographic Project and Scientist in Residence), the Genographic Project app, and potentially the Health category apps, although I have not personally evaluated the Health apps.

In other cases, I’m downright skeptical of the value of some of these apps, but I’ll let you be the judge.

App categories, other than the ones I mentioned above, include:

  • Entertainment
  • Family
  • Fitness
  • Nutrition

Here’s are the sale prices for:

Disclosure

While I am a National Geographic Genographic affiliate researcher, there is no financial remuneration involved, nor is this a paid affiliate link.  This means I have no financial interest whatsoever, in any way, in these products and services – nor do I receive any commission if you purchase any of these products.