Phylogenetic Tree of Novel Coronavirus (hCoV-19) Covid-19

Covid Pedigree.png

I found this information about the phylogenetic tree of Covid-19 very interesting, in part, due to how rapidly this virus mutates.

Note that this tree was constructed with shared contributed information from just 333 samples, and that as of today, we know of 126,000+ confirmed cases, meaning that there are assuredly many more and this tree is a bare bones structure.

This tree and additional information can be viewed in various ways on this site.

Covid branching.png

Imagine how vast this tree would look if we could see the entire branching tree structure. This also explains the phenomenon of rapid viral mutation to either more or less virulent strains, and why “next year’s” vaccine will only be partially effective against a strain that was prevalent a few months earlier.

Let’s talk about mutations for a minute. We look at trees like this for the history of mankind or womankind over tens of thousands of years, not a 9 or 10 week timeline in the evolution of a virus.

If you look at that orange branch at about 5 o’clock, you can easily imagine that branch mutating to be nearly harmless, and the red branch at about 2 o’clock mutating to be even more deadly. It would be some time until we discovered that the different tree branches were behaving in different ways, and then even longer to determine how to harvest that information and distill it to be useful for prevention or cure.

I also found it very interesting to view the source of the various viral strains in the Americas on a GIS map.

Covid infection map.png

The strain in western Canada originated in Iran, as did the strain in New Zealand and one in Australia. Of course, the Iranian line originally came from China. Some infections in Australia came directly from China, as did most of the European pockets. South America and Mexico both arrived from Italy, as did many of the UK infections, although some appear to have passed through the Netherlands and Belgium first.

If you ever had any doubt in your mind about world being high interconnected, this should remove any question.

Take a few minutes and look at all of the informational options on this website. It’s wonderfully cool and is not limited to this outbreak.

I’ve updated my original article with additional resources as they’ve become available – in particular this “active case” map.

Keep yourself safe. Wash, limit social contact and hey, do some genealogy!

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Disclosure

I receive a small contribution when you click on some of the links to vendors in my articles. This does NOT increase the price you pay but helps me to keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Products and Services

Genealogy Research

Fun DNA Stuff

  • Celebrate DNA – customized DNA themed t-shirts, bags and other items

Parallels & Help: COVID-19 Coronavirus and Spanish Flu Pandemics

Pandemics, described as epidemics that spread to very large areas or the entire world, aren’t new.

It was exactly 100 years ago, this day, that my father, serving in the military where he had been suffering from the Spanish Flu in the Army barracks at Camp Custer, Michigan awaited word about his grandparents.

Joseph, known as Dode, Bolton had died on February 24rd. The flu was rampant in the Claiborne County, TN community of Hoop Creek where he and his wife, Margaret Claxton lived.

On Dode’s death certificate, his cause of death was described as “Pneumonia in both lungs following the flu.” The doctor has been caring for him for 6 days, although there wasn’t much the doctor could do.

flu Dode.png

The death certificate says Dode was buried the next day, but that’s not what the family recalled.

Dode’s body was put out in the barn where it was cold, awaiting burial. Everyone was sick, too sick to build a casket and dig a grave. Besides, the family was waiting on something else.

Margaret was sick too. She wasn’t expected to live either – and she didn’t. She lingered another 14 days beyond Dode when she too died of flu complications on March 10.

Flu Margaret.png

According to her death certificate, she had been under the doctor’s care since the same day as Dode. Her cause of death was “Bronco Pnumonia following flu.”

The family stated that they were buried together in the spring, when the ground thawed and people got well enough to dig the graves and bury the couple.

Browsing the Claiborne County death records, there were many spring deaths that year.

100 Years Apart

Dode and Margaret died before the invention of antibiotics and anti-viral drugs. Before the days of oxygen “tents,” hospitals and life-saving treatments. And certainly, before the days of vaccinations.

One would think that in today’s modern world, we would be beyond rapidly spreading pandemics – yet – here we are.

Exactly 100 years later we are facing another uncontrolled pandemic – the COVID-19 Coronavirus.

But there is one big difference. Our world has gotten smaller in the sense that people travel more often, more rapidly and more widely. Everyone depends on automobiles and rapid transit systems. Air travel is an everyday occurrence – meaning that a contagious disease can be very quickly spread worldwide. That’s exactly what’s happening. People travel, become infected and spread the disease back home before they know they are ill, like ant poison carried into the heart of the entire ant colony – Typhoid Mary on steroids.

What is the COVID-19 Coronavirus?

The Covid-19 Coronavirus is related to other viruses, which make humans and animals sick.

Over time, viruses mutate, become slightly different and more deadly as we have no immunity to fight the new viral strain.

That’s why there’s a new flu shot developed every year, and why the effectiveness may vary. Sometimes different people become sick from the same virus in different ways, meaning some people who are infected with the COVID-19 may have either no or light symptoms. Some become very sick but recover. And of course, as we’ve all heard, some die.

The worse part though, is that it appears that people can actually infect others during the 2- 14 days before they develop symptoms and up to 14 days after the symptoms are gone.

Symptoms can appear 2-14 days after exposure. Some people are contagious but have no symptoms as all. Not a lot is known about this virus at this time, so an abundance of caution is in order.

What are the Symptoms?

Flu Covid symptoms

By Mikael Häggström, M.D.- Author info- Reusing images – Own work, CC0, https://commons.wikimedia.org/w/index.php?curid=87644670

The Center for Disease Control (CDC) reports symptoms here, which include:

  • Cough
  • Fever
  • Shortness of breath

Generally NOT a runny nose, vomiting or intestinal discomfort. This virus attacks through the lungs – although everyone can manifest this disease somewhat differently.

Older people, over 60, and increasing with age, or people with compromised immune systems such as HIV or transplant patients, people undergoing chemo or people with underlying organic systemic health issues such as lung, liver, kidney or heart disease are particularly vulnerable.

There is currently no vaccine nor treatment except for treating the symptoms individually as they appear. Therefore, prevention is key.

Diagnostic Swab Test

There is a swab test, but they are in very short supply inthe US and most people with symptoms are currently not being tested here.

Currently, the virus has been confirmed in about half the US states, but with no or inadequate testing, it’s certainly possible that it’s far more widespread than we know at this point.

My family member who teaches at a medical school hospital says they’ve adopted the “washing and introvert” protocol. That’s good advice for all of us.

What Can You Do?

This is NOT a time to panic, but it absolutely IS time to educate yourself and take preventative measures, including:

  • Wash your hands with soap and warm water for a full minute, often.
  • Use hand sanitizer or alcohol wipes liberally. Can’t find hand sanitizer? You can use anything with more than 60% alcohol. Here’s a list of disinfecting products provided by the EPA. Here’s a sanitizer recipe, and another one here from the World Health Organization (WHO).
  • Follow CDC recommendations here.
  • If you get sick with COVID-19 symptoms, the initial recommendation was to go to the hospital to be tested. However, now the recommendation is to call your health-care provider so as not to potentially infect others.
  • Don’t touch things like gas pump handles and doorknobs, especially in public places. I always wash my hands after touching things like menus in restaurants.
  • Stay home. Given that people don’t know if they are infected and can be infecting others for a full 2 weeks before they realize they are ill, your best bet to stay well is to stay at home.
  • If you feel ill or “off,” don’t go to work or anyplace. Many employers are arranging for people to work from home if possible.
  • If your child is ill, keep them at home too. School and confined spaces are literally petri dishes.
  • Don’t touch your face, meaning mouth, nose or eyes. People think they don’t, but they do without realizing it. This also extends to finger foods.

Face masks may or may not be effective. The virus is typically spread by actual contact, but if you are sneezed on directly and breath in the drops, you can contract the disease that way. However, the most common infection route is through touching something an infected person touched or otherwise contaminated and then touching your face. Face masks may help prevent you from touching your own face, even if they don’t directly prevent the virus in other ways. Please see the letter from Dr. Robb, below.

Where to Obtain Reliable News

This virus is a health issue, not a political football (please, no political comments, regardless of how you feel.) I would strongly, strongly recommend obtaining your information from health professionals and those who have no other agenda.

Here are some resources for you, including maps.

Letter from Dr. James Robb, MD FCAP

This letter, written to his family and friends by James Robb, MD FCAP, a renowned pathologist, confirmed by SNOPES, provides the following common-sense insight:

Dear Family and Friends, as some of you may recall, when I was a professor of pathology at the University of California San Diego, I was one of the first molecular virologists in the world to work on coronaviruses (the 1970s). I was the first to demonstrate the number of genes the virus contained. Since then, I have kept up with the coronavirus field and its multiple clinical transfers into the human population (e.g., SARS, MERS), from different animal sources.

The current projections for its expansion in the US are only probable, due to continued insufficient worldwide data, but it is most likely to be widespread by mid to late March and April.

Here is what I have done and the precautions that I take and will take. These are the same precautions I currently use during our influenza seasons, except for the mask and gloves.:

1) NO HANDSHAKING! Use a fist bump, slight bow, elbow bump, etc.

2) Use ONLY your knuckle to touch light switches. elevator buttons, etc.. Lift the gasoline dispenser with a paper towel or use a disposable glove.

3) Open doors with your closed fist or hip – do not grasp the handle with your hand, unless there is no other way to open the door. Especially important on bathroom and post office/commercial doors.

4) Use disinfectant wipes at the stores when they are available, including wiping the handle and child seat in grocery carts.

5) Wash your hands with soap for 10-20 seconds and/or use a greater than 60% alcohol-based hand sanitizer whenever you return home from ANY activity that involves locations where other people have been.

6) Keep a bottle of sanitizer available at each of your home’s entrances. AND in your car for use after getting gas or touching other contaminated objects when you can’t immediately wash your hands.

7) If possible, cough or sneeze into a disposable tissue and discard. Use your elbow only if you have to. The clothing on your elbow will contain infectious virus that can be passed on for up to a week or more!

What I have stocked in preparation for the pandemic spread to the US:

1) Latex or nitrile latex disposable gloves for use when going shopping, using the gasoline pump, and all other outside activity when you come in contact with contaminated areas.

Note: This virus is spread in large droplets by coughing and sneezing. This means that the air will not infect you! BUT all the surfaces where these droplets land are infectious for about a week on average – everything that is associated with infected people will be contaminated and potentially infectious. The virus is on surfaces and you will not be infected unless your unprotected face is directly coughed or sneezed upon. This virus only has cell receptors for lung cells (it only infects your lungs). The only way for the virus to infect you is through your nose or mouth via your hands or an infected cough or sneeze onto or into your nose or mouth.

2) Stock up now with disposable surgical masks and use them to prevent you from touching your nose and/or mouth (We touch our nose/mouth 90X/day without knowing it!). This is the only way this virus can infect you – it is lung-specific. The mask will not prevent the virus in a direct sneeze from getting into your nose or mouth – it is only to keep you from touching your nose or mouth.

3) Stock up now with hand sanitizers and latex/nitrile gloves (get the appropriate sizes for your family). The hand sanitizers must be alcohol-based and greater than 60% alcohol to be effective.

4) Stock up now with zinc lozenges. These lozenges have been proven to be effective in blocking coronavirus (and most other viruses) from multiplying in your throat and nasopharynx. Use as directed several times each day when you begin to feel ANY “cold-like” symptoms beginning. It is best to lie down and let the lozenge dissolve in the back of your throat and nasopharynx. Cold-Eeze lozenges is one brand available, but there are other brands available.

I, as many others do, hope that this pandemic will be reasonably contained, BUT I personally do not think it will be. Humans have never seen this snake-associated virus before and have no internal defense against it. Tremendous worldwide efforts are being made to understand the molecular and clinical virology of this virus. Unbelievable molecular knowledge about the genomics, structure, and virulence of this virus has already been achieved. BUT, there will be NO drugs or vaccines available this year to protect us or limit the infection within us. Only symptomatic support is available.

I hope these personal thoughts will be helpful during this potentially catastrophic pandemic. Good luck to all of us,

James Robb, MD FCAP

There is NO Rewind

Once it’s too late, you can’t go back for a do-over, so please don’t think this advice is for “everyone else.” It’s for everyone, including you and me. Yes, I know it’s inconvenient, but it’s also critically important.

Major conferences are cancelling as are events that bring people into close contact. These cancellations have huge economic impacts on the sponsors and attendees, meaning this is not a decision the organizers take lightly. If they are willing to forgo this opportunity and suffer the economic consequences in order to keep attendees safe, even if the virus isn’t known to be found in that location – yet – please heed that example and do the same, even if something you had planned to do hasn’t yet cancelled. All I can say is that I’m glad RootsTech was last week instead of next week – because I wouldn’t be there.

If you minimize your own chances of exposure, you also minimize infecting others before you know you’ve been exposed. Remember, people are contagious as much as 2 weeks both before and after they are actually ill, if they manifest symptoms at all.

Once the damage is done, there no going back and “I’m sorry” matters not to dead people or their grieving families. Back in 1920, Dode and Margaret were sharing a gourd dipper for drinking well water and attending church with their neighbors who were doing the same. They didn’t understand about germs and contagion. We do and we have the opportunity, and responsibility, to prevent that same outcome.

Take a look around you – those people you love are the people you are saving by NOT taking a chance of getting infected yourself.

Introvert, stay home, wash your hands and do some genealogy.

As Dr. Robb said, “good luck to all of us.”

Please feel free to share this article widely.

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Disclosure

I receive a small contribution when you click on some of the links to vendors in my articles. This does NOT increase the price you pay but helps me to keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Products and Services

Genealogy Research

Fun DNA Stuff

  • Celebrate DNA – customized DNA themed t-shirts, bags and other items

DNA Testing Sales Decline: Reason and Reasons

If you’re involved in genetic genealogy, you’ve probably noticed the recent announcements by both 23andMe and Ancestry relative to workforce layoffs as a result of declining sales.

Layoffs

In January, 23andMe announced that it was laying off 100 people which equated to 14% of its staff.

Following suit, Ancestry this week announced that they are laying off 100 people, 6% of their work force. They discuss their way forward, here.

One shift of this type can be a blip, but two tends to attract attention because it *could* indicate a trend. Accordingly, several articles have been written about possible reasons why this might be occurring. You can read what TechCrunch says here, Business Insider here, and The Verge, here.

Depending on who you talk to and that person’s perspective, the downturn is being attributed to:

  • Market Saturation
  • No Repeat Sales
  • Privacy Concerns
  • FAD Over

Ok, So What’s Happening?

Between Ancestry and 23andMe alone, more than 26 million DNA tests have been sold, without counting the original DNA testing company, FamilyTreeDNA along with MyHeritage who probably have another 4 or 5 million between them.

Let’s say that’s a total of 30 million people in DNA databases that offer matching. The total population of the US is estimated to be about 329 million, including children, which means that one person in 10 or 11 people in the US has now tested. Of course, DNA testing reaches worldwide, but it’s an interesting comparison indicating how widespread DNA testing has become overall.

This slowing of new sales shouldn’t really surprise anyone. In July 2019, Illumina, the chip maker who supplies equipment and supplies to the majority of the consumer DNA testing industry said that the market was softening after a drop in their 2019 second quarter revenue.

Also last year, Ancestry and MyHeritage both announced health products, a move which would potentially generate a repeat sale from someone who has already tested their DNA for genealogy purposes. I suspected at the time this might be either a pre-emptive strike, or in response to slowed sales.

In November 2019, Family Tree DNA announced an extensive high-end health test through Tovana which tests the entire Exome, the portion of our DNA useful for medical and health analysis.

In a sense, this health focus too is trendy, but moves away from genealogy into an untapped area.

23andMe who, according to their website, has obtained $791 million in venture capital or equity funding has always been focused on medical research. In July of 2018 GlaxoSmithKline infused $300 million into 23andMe in exchange for access to DNA results of their 5 million customers who have opted-in to medical research, according to Genengnews. If you divide the 300 million investment by 5 million opted-in customers, 23andMe received $60 per DNA kit.

That 5 million number is low though, based on other statements by 23andMe which suggests they have 10 million total customers, 80% of which opt-in for medical research. That would be a total of 8 million DNA results available to investors.

Divide $791 million by 8 million kits and 23andMe, over the years, has received roughly $99 for each customer who has opted in to research.

We know who Ancestry has partnered with for research, but not how much Ancestry has received.

There’s very big money, huge money, in collaborating with Big Pharma and others. Given the revenue potential, it’s amazing that the other two vendors, Family Tree DNA and MyHeritage, haven’t followed suit, but they haven’t.

Additionally, in January, 23andMe sold the rights to a new drug it developed in-house as a potential treatment for inflammatory diseases for a reported (but unconfirmed by 23andMe) $5 million.

It’s ironic that two companies who just announced layoffs are the two who have partnered to sell access to their opted-in customers’ DNA results.

My Thoughts

I’ve been asked several times about my thoughts on this shift within the industry. I have refrained from saying much, because I think there has been way too much “hair on fire” clickbait reporting that is fanning the flames of fear, not only in the customer base, but in general.

I am sharing my thoughts, and while they are not entirely positive, in that there is clearly room for improvement, I want to emphasize that I am very upbeat about this industry as a whole, and this article ends very positively with suggestions for exactly that – so please read through.

Regardless of why, fewer new people are testing which of course results in fewer sales, and fewer new matches for us.

My suspicion is that each of the 4 reasons given above is accurate to some extent, and the cumulative effect plus a couple of other factors is the reason we’re seeing the downturn.

Let’s take a look at each one.

Market Saturation

Indeed, we’ve come a very long way from the time when DNA was a verboten topic on the old RootsWeb mailing lists and boards.

Early DNA adopters back then were accused of “cheating,” and worse. Our posts were deleted immediately. How times have changed!

As the technology matured, 23andMe began offering autosomal testing accompanied by cousin matching.

Ancestry initially stepped into the market with Y and mitochondrial DNA testing, but ultimately destroyed that database which included Y and mitochondrial DNA results from Relative Genetics, a company they had previously acquired. People in those databases, as well as who had irreplaceable samples in Sorenson, which Ancestry also purchased and subsequently took offline permanently have never forgotten.

Those genealogists have probably since tested at Ancestry, but they may be more inclined to test the rest of their family at places like Family Tree DNA and MyHeritage who have chromosome browsers and tools that support more serious researchers.

I think a contributing factor is that fewer “serious genealogists” are coming up in the ranks. The perception that all you need to do is enter a couple of generations and click on a few leaves, and you’re “done” misleads people as to the complexity and work involved in genealogical research. Not to mention how many of those hints are inaccurate and require analysis.

Having said that, I view each one of these people who are encouraged for the first time by an ad, even if it is misleading in its simplicity, as a potential candidate. We were all baby genealogists once, and some of us stayed for reasons known only to us. Maybe we have the genealogy gene😊

But yes, I would agree that the majority, by far, of serious genealogists have already tested someplace. What they have not done universally is transferred from 23andMe and Ancestry to the other companies that can help them, such as MyHeritage, FamilyTreeDNA and GEDmatch. If they had, the customer numbers at those companies would be higher. We all need to fish in every pond.

Advertising and Ethnicity

The DNA ads over the last few years have focused almost exclusively on ethnicity – the least reliable aspect of genetic genealogy – but also the “easiest” to understand if a customer takes their ethnicity percentages at face value. And of course, every consumer that purchases a test as a result of one of these ads does exactly that – spits or swabs, mails and opens their results to see what they “are” – full of excited anticipation.

Many people have absolutely no idea there’s more, like cousin matching – and many probably wouldn’t care.

The buying public who purchases due to these ads are clearly not early adopters, and most likely are not genealogists. One can hope that at least a few of them get hooked as a result, or at least enter a minimal tree.

Unfortunately, of the two companies experiencing layoffs, only Ancestry supports trees. Genealogy revolves around trees, pure and simple.

23andMe has literally had years to do so and has refused to natively support trees. Their FamilySearch link is not the same as supporting trees and tree matching. Their attempt at creating a genetic tree is laudable and has potential, but it’s not something that can be translated into a genealogical benefit for most people. I’m guessing that there aren’t any genealogists working for 23andMe, or they aren’t “heard” amid the vervre surrounding medical research.

All told, I’m not surprised that the two companies who are experiencing the layoffs are the two companies whose ads we saw most often focused on ethnicity, especially Ancestry. Who can forget the infamous kilt/leiderhosen ad that Ancestry ran? I still cringe.

Many people who test for ethnicity never sign on again – especially if they are unhappy with the results.

Ancestry and 23andMe spent a lot on ad campaigns, ramped up for the resulting sales, but now the ads are less effective, so not being run as much or at all. Sales are down. Who’s to say which came first, the chicken (fewer ads) or the egg (lower sales.)

This leads us to the next topic, add on sales.

No Repeat Sales

DNA testing, unless you have something else to offer customers is being positioned as a “one and done” sale, meaning that it’s a single purchase with no potential for additional revenue. While that’s offered as a reason for the downturn, it’s not exactly true for DNA test sales.

Ancestry clearly encourages customers to subscribe to their records database by withholding access to some DNA features without a subscription. For Ancestry, DNA is the bait for a yearly repeat sale of a subscription. Genealogists subscribe, of course, but people who aren’t genealogists don’t see the benefit.

Ancestry does not allow transfers into their database, which would provide for additional revenue opportunity. I suspect the reason is twofold. First, they want the direct testing revenue, but perhaps more importantly, in order to sell their customer’s DNA who have agreed to participate in research, or partner with research firms, those customers need to have tested on Ancestry’s custom chip. This holds true for 23andMe as well.

Through the 23andMe financial information in the earlier section, it’s clear that while the consumer only pays a one time fee to test, multiple research companies will pay over and over for access to that compiled consumer information.

Ancestry and 23andMe have the product, your opted-in DNA test that you paid for, and they can sell it over and over again. Hopefully, this revenue stream helps to fund development of genetic genealogical tools.

MyHeritage also provides access to advanced DNA tools by selling a subscription to their records database after a free trial. MyHeritage has integrated their DNA testing with genealogical records to provide their advanced Theories of Family Relativity tool, a huge boon to genealogists.

While Family Tree DNA doesn’t have a genealogical records database like Ancestry and MyHeritage, they provide Y DNA and mitochondrial DNA testing, in addition to the autosomal Family Finder test. If more people tested Y DNA and mitochondrial DNA, more genealogical walls would fall due to the unique inheritance path and the fact that neither Y nor mitochondrial DNA is admixed with DNA from the other parent.

Generally, only genealogists know about and are going to order Y DNA and mtDNA tests, or sponsor others to take them to learn more about their ancestral lines. These tests don’t provide yearly revenue like an ongoing subscription, but at least the fact that Family Tree DNA offers three different tests does provide the potential for at least some additional sales.

Both MyHeritage and FamilyTreeDNA encourage uploads, and neither sell, lease or share your DNA for medical testing. You can find upload instructions, here.

In summary of this section, all of the DNA testing companies do have some sort of additional (potential) revenue stream from DNA testing, so it’s not exactly “one and done.”

Health Testing Products

As for health testing, 23andMe has always offered some level of health information for their customers. Health and research has always been their primary focus. Health and genealogy was originally bundled into one test. Today, DNA ancestry tests with the health option at 23andMe cost more than a genealogy-only test and are two separate products.

MyHeritage also offers a genealogy only DNA test and a genealogy plus health DNA test.

In 2019, both Ancestry and MyHeritage added health testing to their menu as upgrades for existing customers.

In November 2019, FamilyTreeDNA announced an alliance with Tovana for their customers to order a full exome grade medical test and accompanying report. I recently received mine and am still reviewing the results – they are extensive.

It’s clear that all four companies see at least some level of consumer interest in health and traits as a lucrative next step.

Medical Research and DNA Sales

Both Ancestry and 23andMe are pursuing and have invested in relationships with research institutions or Big Pharma. I have concerns with how this is handled. You may not.

I’m supportive of medical research, but I’m concerned that most people have no idea of the magnitude and scope of the contracts between Ancestry and 23andMe with Big Pharma and others, in part, because the details are not public. Customers may also not be aware of exactly what they are opting in to, what it means or where their DNA/DNA results are going.

As a consumer, I want to know where my DNA is, who is using it, and for what purpose. I don’t want my DNA to wind up being used for a nefarious purpose or something I don’t approve of. Think Uighurs in China by way of example. BGI Genetics, headquartered in China but with an Americas division and facilities in Silicon Valley has been a major research institute for years. I want to know what my DNA is being used for, and by whom. The fact that the companies won’t provide their customers with that information makes me makes me immediately wonder why not.

I would like to be able to opt-in for specific studies, not blindly for every use that is profitable to the company involved, all without my knowledge. No blank checks. For example, I opted out of 23andMe research when they patented the technology for designer babies.

Furthermore, I feel that if someone is going to profit from my DNA, it should be me since I paid for the sequencing. At minimum, a person whose DNA is used in these studies should receive some guarantee that they will be provided with any drug in which their DNA is used for development, in particular if their insurance doesn’t pay and they cannot afford the drug.

Drug prices have risen exponentially in the US recently, with many people no longer able to afford their medications. For example, the price of insulin has tripled over the last decade, causing people to ration or cut back on their insulin, if not go without altogether. It would be the greatest of ironies if the very people whose DNA was sold and used to create a drug had no access to it.

Of course, Ancestry and 23andMe are not required to inform consumers of which studies their DNA or DNA results are used for, so we don’t know. Always read all of the terms and conditions, and all links when authorizing anything.

Both companies indicate that your DNA results are anonymized before being shared, but we now know that’s not really possible anymore, because it’s relatively easy to re-identify someone. This is exactly how adoptees identify their biological parents through genetic matches. Dr. Yaniv Erlich reported in the journal Science November 2018 that more than 60% of Europeans could be reidentified through a genealogy database of only 1.28 million individuals.

I think greater transparency and a change in policy favoring the consumer would go a long way to instilling more confidence in the outside research relationships that both Ancestry and 23andMe pursue and maintain. It would probably increase their participation level as well if people could select the research initiatives to which they want to contribute their DNA.

Privacy Concerns

The news has been full of articles about genetic privacy, especially in the months since the Golden State Killer case was solved. That was only April 2018, but it seems like eons ago.

Unfortunately, much of what has been widely reported is inaccurate. For example, no company has ever thrown the data base open for the FBI or anyone to rummage through like a closet full of clothes. However, headlines and commentary like that attract outrage and hundreds of thousands of clicks. In the news and media industry, “it’s all about eyeballs.”

In one case, an article I interviewed for extensively in an educational capacity was written accurately, but the headline was awful. The journalist in question replied that the editors write the headlines, not the reporters.

One instance of this type of issue would be pretty insignificant, but the news in this vein hasn’t abated, always simmering just below the surface waiting for something to fan the flames. Outrage sells.

For the most part, those within the genealogy community at least attempt to sort out what is accurate reporting and what is not, but those people are the ones who have already tested.

People outside the genealogy community just know that they’ve now seen repeated headlines reporting that their genetic privacy either has been, could be or might be breached, and they are suspicious and leery. I would be too. They have no idea what that actually means, what is actually occurring, where, or that they are probably far more at risk on social media sites.

These people are not genealogists, and now they look at ads and think to themselves, “yes, I’d like to do that, but…”

And they never go any further.

People are frightened and simply disconnect from the topic – without testing.

If, as a consumer, you see several articles or posts saying that <fill in car model> is really bad, when you consider a purchase, even if you initially like that model, you’ll remember all of those negative messages. You may never realize that the source was the competition which would cause you to interpret those negative comments in a completely different light.

I think that some of the well-intentioned statements made by companies to reassure their existing and potential customers have actually done more harm than good by reinforcing that there’s a widespread issue. “You’re safe with us” can easily be interpreted as, “there’s something to be afraid of.”

Added to that is the sensitive topic of adoptee and unknown parent searches.

Reunion stories are wonderfully touching, and we all love them, but you seldom see the other side of the coin. Not every story has a happy ending, and many don’t. Not every parent wants to be found for a variety of reasons. If you’re the child and don’t want to find your parents, don’t test, but it doesn’t work the other way around. A parent can often be identified by their relatives’ DNA matches to their child.

While most news coverage reflects positive adoptee reunion outcomes, that’s not universal, and almost every family has a few lurking skeletons. People know that. Some people are fearful of what they might discover about themselves or family members and are correspondingly resistant to DNA testing. Realizing you might discover that your father isn’t your biological father if you DNA test gives people pause. It’s a devastating discovery and some folks decide they’d rather not take that chance, even though they believe it’s not possible.

The genealogical search techniques for identifying unknown parents or close relatives and the technique used by law enforcement to identify unknown people, either bodies or perpetrators is exactly the same. If you are in one of the databases, who you match can provide a very big hint to someone hunting for the identify of an unknown person.

People who are not genealogists, adoptees or parents seeking to find children placed for adoption may be becoming less comfortable with this idea in general.

Of course, the ability for law enforcement to upload kits to GedMatch/Verogen and Family Tree DNA, under specific controlled conditions, has itself been an explosive and divisive topic within and outside of the genealogy community since April 2018.

These law enforcement kits are either cold case remains of victims, known as “Does,” or body fluids from the scenes of violent crimes, such as rape, murder and potentially child abduction and aggravated assault. To date, since the Golden State Killer identification, numerous cases have produced a “solve.” ISOGG, a volunteer organization, maintains a page of known cases solved, here.

GEDmatch encourages people to opt-in for law-enforcement matching, meaning that their kit can be seen as a match to kits uploaded by law enforcement agencies or companies working on behalf of law enforcement agencies. If a customer doesn’t opt-in, their kit can’t be seen as a match to a law enforcement kit.

Family Tree DNA initially opted-out all EU kits from law enforcement matching, due to GDPR, and provides the option for their customers to opt-out of law-enforcement matching.

Neither MyHeritage, Ancestry nor 23andMe cooperate with law enforcment under any circumstances and have stated that they will actively resist all subpoenaes in court.

ISOGG provides a FAQ on Investigative Genetic Genealogy, here.

The two sides of the argument have rather publicly waged war on each other in an ongoing battle to convince people of the merits of their side of the equation, including working with news organizations.

Unfortunately, this topic is akin to arguing over politics. No one changes their mind, and everyone winds up mad.

Notice I’m not linking any articles here, not even my own. I do not want to fan these flames, but I would be remiss if I didn’t mention that the topic of law enforcement usage itself, the on-going public genetic genealogy community war and resulting media coverage together have very probably contributed to the lagging sales. I’d also be remiss if I didn’t mention that while a great division of opinion exists, and many people are opposed, there are also many people who are extremely supportive.

All of this, combined, intentionally or not, has introduced FUD, fear, uncertainty and doubt – a very old disinformation “sales technique.”

In a sense, for consumers, this has been like watching pigs mud-wrestle.

As my dad used to say, “Never mud-wrestle with a pig. The pig enjoys it, you get muddy and the spectators can’t tell the difference.” The spectators in this case vote with their lack of spending and no one is a winner.

DNA Testing Was A FAD

Another theory is that genealogy DNA testing was just a FAD whose time has come and gone. I think the FAD was ethnicity testing, and that chicken has come home to roost.

Both 23andMe and Ancestry clearly geared up for testers attracted by their very successful ads. I was just recently on a cruise, and multiple times I heard people at another table discussing their ethnicity results from some unnamed company. They introduced the topic by saying, “I did my DNA.”

The discussion was almost always the same. Someone said that they thought their ethnicity was pretty accurate, someone else said theirs was awful, and the discussion went from there. Not one time did anyone ever mention a company name, DNA matching or any other functionality. I’m not even sure they understood there are different DNA testing companies.

If I was a novice listening-in, based on that discussion, I would have learned to doubt the accuracy of “doing my DNA.”

If most of the people who purchased ethnicity tests understood in advance that ethnicity testing truly is “just an estimate,” they probably wouldn’t have purchased in the first place. If they understood the limitations and had properly set expectations, perhaps they would not have been as unhappy and disenchanted with their results. I realize that’s not very good marketing, but I think that chicken coming home to roost is a very big part of what we’re seeing now.

The media has played this up too, with stories about how the ethnicity of identical twins doesn’t match. If people bother to read more than the headline, and IF it’s a reasonably accurate article, they’ll come to understand why and how that might occur. If not, what they’ll take away is that DNA testing is wrong and unreliable. So don’t bother.

Furthermore, most people don’t understand that ethnicity testing and cousin matching are two entirely different aspects of a DNA test. The “accuracy” of ethnicity is not related to the accuracy of cousin matching, but once someone questions the credibility of DNA testing – their lack of confidence is universal.

I would agree, the FAD is over – meaning lots of people testing primarily for ethnicity. I think the marketing challenge going forward is to show people that DNA testing can be useful for other things – and to make that easy.

Ethnicity was the low hanging fruit and it’s been picked.

Slowed Growth – Not Dead in the Water

The rate of growth has slowed. This does not by any stretch of the imagination mean that genetic genealogy or DNA testing is dead in the water. DNA fishes for us 365x24x7.

For example, just today, I received a message from 23andMe that 75 new relatives have joined 23andMe. I also received match notifications from Family Tree DNA and MyHeritage.  Hey – calorie-free treats!!!

These new matches are nothing to sneeze at. I remember when I was thrilled over ONE new match.

I have well over 100,000 matches if you combine my matches at the four vendors.

Without advanced tools like triangulation, Phased Family Matching, Theories of Family Relativity, ThruLines, DNAPainter, DNAgedcom and Genetic Affairs, I’d have absolutely no prayer of grouping and processing this number of matches for genealogy.

Even if I received no new matches for the next year, I’d still not be finished analyzing the autosomal matches I already have.

This Too Shall Pass

At least I hope it will.

I think people will still test, but the market has corrected. This level of testing is probably the “new normal.”

Neither Ancestry or 23andMe are spending the big ad dollars – or at least not as big.

In order for DNA testing companies to entice customers into purchasing subscriptions or add-on products, tools need to be developed or enhanced that encourage customers to return to the site over and over. This could come in the form of additional results or functionality calculated on their behalf.

That “on their behalf” point is important. Vendors need to focus on making DNA fun, and productive, not work. New tools, especially in the last year or two, have taken a big step in that direction. Make the customer wonder every day what gift is waiting for him or her that wasn’t there yesterday. Make DNA useful and fun!

I would call this “DNA crack.” 😊

Cooking Up DNA Crack!

In order to assist the vendors, I’ve compiled one general suggestion plus what I would consider to be the “Big 3 Wish List” for each of their DNA products in term of features or improvements that would encourage customers to either use or return to their sites. (You’re welcome.)

I don’t want this to appear negative, so I’ve also included the things I like most about each vendor.

If you have something to add, please feel free to comment in a positive fashion.

Family Tree DNA

I Love: Y and Mitochondrial DNA, Phased Family Matching, and DNA projects

General Suggestion – Fix chronic site loading issues which discourage customers

  • Tree Matching – fix the current issues with trees and implement tree matching for DNA matches
  • Triangulation – including by match group and segment
  • Clustering – some form of genetic networks

MyHeritage

I Love: Theories of Family Relativity, triangulation, wide variety of filters, SmartMatches and Record Matches

General – Clarify confusing subscription options in comparative grid format

  • Triangulation by group and segment
  • View DNA matches by ancestor
  • Improved Ethnicity

Ancestry

I Love: Database size, ThruLines, record and DNA hints (green leaves)

General – Focus on the customers’ needs and repeated requests

  • Accept uploads
  • Chromosome Browser (yes, I know this is a dead horse, but that doesn’t change the need)
  • Triangulation (dead horse’s brother)

23andMe

I Love: Triangulation, Ethnicity quality, ethnicity segments identified, painted and available for download

General – Focus on genealogy tools if you’re going to sell a genealogy test

  • Implement individual customer trees – not Family Search
  • Remove 2000 match limit (which is functionally less after 23andMe hides the people not opted into matching)
  • DNA + Tree Matching

Summary

In summary, we, as consumers need to maintain our composure, assuring others that no one’s hair is on fire and the sky really is not falling. We need to calmly educate as opposed to frighten.

Just the facts.

Other approaches don’t serve us in the end. Frightening people away may “win” the argumentative battle of the day, but we all lose the war if people are no longer willing to test.

This is much like a lifeboat – we all succeed together, or we all lose.

Everybody row!

As genealogists, we need to:

  • Focus on verifying ancestors and solving genealogy challenges
  • Sharing those victories with others, including family members
  • Encourage our relatives to test, and transfer so that their testing investment provides as much benefit as possible
  • Offer to help relatives with the various options on each vendor’s platform
  • Share the joy

People share exciting good news with others, especially on Facebook and social media platforms, and feel personally invested when you share new results with them. Collaboration bonds people.

A positive attitude, balanced perspective and excitement about common ancestors goes a very, very long was in terms of encouraging others.

We have more matches now than ever before, along with more and better tools. Matches are still rolling in, every single day.

New announcements are expected at Rootstech in a couple short weeks.

There’s so much opportunity and work to do.

The sky is not falling. It rained a bit.

The seas may have been stormy, but as a genealogist, the sun is out and a rising tide lifts us all.

Rising tide

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Thank you so much.

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2019: The Year and Decade of Change

2019 ends both a year and a decade. In the genealogy and genetic genealogy world, the overwhelmingly appropriate word to define both is “change.”

Everything has changed.

Millions more records are online now than ever before, both through the Big 3, being FamilySearch, MyHeritage and Ancestry, but also through multitudes of other sites preserving our history. Everyplace from National Archives to individual blogs celebrating history and ancestors.

All you need to do is google to find more than ever before.

I don’t know about you, but I’ve made more progress in the past decade that in all of the previous ones combined.

Just Beginning?

If you’re just beginning with genetic genealogy, welcome! I wrote this article just for you to see what to expect when your DNA results are returned.

If you’ve been working with genetic genealogy results for some time, or would like a great review of the landscape, let’s take this opportunity to take a look at how far we’ve come in the past year and decade.

It’s been quite a ride!

What Has Changed?

EVERYTHING

Literally.

A decade ago, we had Y and mitochondrial DNA, but just the beginning of the autosomal revolution in the genetic genealogy space.

In 2010, Family Tree DNA had been in business for a decade and offered both Y and mitochondrial DNA testing.

Ancestry offered a similar Y and mtDNA product, but not entirely the same markers, nor full sequence mitochondrial. Ancestry subsequently discontinued that testing and destroyed the matching database. Ancestry bought the Sorenson database that included Y, mitochondrial and autosomal, then destroyed that data base too.

23andMe was founded in 2006 and began autosomal testing in 2007 for health and genealogy. Genealogists piled on that bandwagon.

Family Tree DNA added autosomal to their menu in 2010, but Ancestry didn’t offer an autosomal product until 2012 and MyHeritage not until 2016. Both Ancestry and MyHeritage have launched massive marketing and ad campaigns to help people figure out “who they are,” and who their ancestors were too.

Family Tree DNA

2019 FTDNA

Family Tree DNA had a banner year with the Big Y-700 product, adding over 211,000 Y DNA SNPs in 2019 alone to total more than 438,000 by year end, many of which became newly defined haplogroups. You can read more here. Additionally, Family Tree DNA introduced the Block Tree and public Y and public mitochondrial DNA trees.

Anyone who ignores Y DNA testing does so at their own peril. Information produced by Y DNA testing (and for that matter, mitochondrial too) cannot be obtained any other way. I wrote about utilizing mitochondrial DNA here and a series about how to utilize Y DNA begins in a few days.

Family Tree DNA remains the premier commercial testing company to offer high resolution and full sequence testing and matching, which of course is the key to finding genealogy solutions.

In the autosomal space, Family Tree DNA is the only testing company to provide Phased Family Matching which uses your matches on both sides of your tree, assuming you link 3rd cousins or closer, to assign other testers to specific parental sides of your tree.

Family Tree DNA accepts free uploads from other testing companies with the unlock for advanced features only $19. You can read about that here and here.

MyHeritage

MyHeritage, the DNA testing dark horse, has come from behind from their late entry into the field in 2016 with focused Europeans ads and the purchase of Promethease in 2019. Their database stands at 3.7 million, not as many as either Ancestry or 23andMe, but for many people, including me – MyHeritage is much more useful, especially for my European lines. Not only is MyHeritage a genealogy company, piloted by Gilad Japhet, a passionate genealogist, but they have introduced easy-to-use advanced tools for consumers during 2019 to take the functionality lead in autosomal DNA.

2019 MyHeritage.png

You can read more about MyHeritage and their 2019 accomplishments, here.

As far as I’m concerned, the MyHeritage bases-loaded 4-product “Home Run” makes MyHeritage the best solution for genetic genealogy via either testing or transfer:

  • Triangulation – shows testers where 3 or more people match each other. You can read more, here.
  • Tree Matching – SmartMatching for both DNA testers and those who have not DNA tested
  • Theories of Family Relativity – a wonderful new tool introduced in February. You can read more here.
  • AutoClusters – Integrated cluster technology helps you to visualize which groups of people match each other.

One of their best features, Theories of Family Relativity connects the dots between people you DNA match with disparate trees and other documents, such as census. This helps you and others break down long-standing brick walls. You can read more, here.

MyHeritage encourages uploads from other testing companies with basic functions such as matching for free. Advanced features cost either a one-time unlock fee of $29 or are included with a full subscription which you can try for free, here. You can read about what is free and what isn’t, here.

You can develop a testing and upload strategy along with finding instructions for how to upload here and here.

23andMe

Today, 23andMe is best known for health, having recovered after having had their wings clipped a few years back by the FDA. They were the first to offer Health results, leveraging the genealogy marketspace to attract testers, but have recently been eclipsed by both Family Tree DNA with their high end full Exome Tovana test and MyHeritage with their Health upgrade which provides more information than 23andMe along with free genetic counseling if appropriate. Both the Family Tree DNA and MyHeritage tests are medically supervised, so can deliver more results.

23andMe has never fully embraced genetic genealogy by adding the ability to upload and compare trees. In 2019, they introduced a beta function to attempt to create a genetic tree on your behalf based on how your matches match you and each other.

2019 23andMe.png

These trees aren’t accurate today, nor are they deep, but they are a beginning – especially considering that they are not based on existing trees. You can read more here.

The best 23andMe feature for genealogy, as far as I’m concerned, is their ethnicity along with the fact that they actually provide testers with the locations of their ethnicity segments which can help testers immensely, especially with minority ancestry matching. You can read about how to do this for yourself, here.

23andMe generally does not allow uploads, probably because they need people to test on their custom-designed medical chip. Very rarely, once that I know of in 2018, they do allow uploads – but in the past, uploaders do not receive all of the genealogy features and benefits of testing.

You can however, download your DNA file from 23andMe and upload elsewhere, with instructions here.

Ancestry

Ancestry is widely known for their ethnicity ads which are extremely effective in recruiting new testers. That’s the great news. The results are frustrating to seasoned genealogists who get to deal with the fallout of confused people trying to figure out why their results don’t match their expectations and family stories. That’s the not-so-great news.

However, with more than 15 million testers, many of whom DO have genealogy trees, a serious genealogist can’t *NOT* test at Ancestry. Testers do need to be aware that not all features are available to DNA testers who don’t also subscribe to Ancestry’s genealogy subscriptions. For example, you can’t see your matches’ trees beyond a 5 generation preview without a subscription. You can read more about what you do and don’t receive, here.

Ancestry is the only one of the major companies that doesn’t provide a chromosome browser, despite pleas for years to do so, but they do provide ThruLines that show you other testers who match your DNA and show a common ancestor with you in their trees.

2019 Ancestry.png

ThruLines will also link partial trees – showing you ancestral descendants from the perspective of the ancestor in question, shown above. You can read about ThruLines, here.

Of course, without a chromosome browser, this match is only as good as the associated trees, and there is no way to prove the genealogical connection. It’s possible to all be wrong together, or to be related to some people through a completely different ancestor. Third party tools like Genetic Affairs and cluster technology help resolve these types of issues. You can read more, here.

You can’t upload DNA files from other testing companies to Ancestry, probably due to their custom medical chip. You can download your file from Ancestry and upload to other locations, with instructions here.

Selling Customers’ DNA

Neither Family Tree DNA, MyHeritage nor Gedmatch sell, lease or otherwise share their customers’ DNA, and all three state (minimally) they will not in the future without prior authorization.

All companies utilize their customers’ DNA internally to enhance and improve their products. That’s perfectly normal.

Both Ancestry and 23andMe sell consumers DNA to both known and unknown partners if customers opt-in to additional research. That’s the purpose of all those questions.

If you do agree or opt-in, and for those who tested prior to when the opt-in began, consumers don’t know who their DNA has been sold to, where it is or for what purposes it’s being utilized. Although anonymized (pseudonymized) before sale, autosomal results can easily be identified to the originating tester (if someone were inclined to do so) as demonstrated by adoptees identifying parents and law enforcement identifying both long deceased remains and criminal perpetrators of violent crimes. You can read more about re-identification here, although keep in mind that the re-identification frequency (%) would be much higher now than it was in 2018.

People are widely split on this issue. Whatever you decide, to opt-in or not, just be sure to do your homework first.

Always read the terms and conditions fully and carefully of anything having to do with genetics.

Genealogy

The bottom line to genetic genealogy is the genealogy aspect. Genealogists want to confirm ancestors and discover more about those ancestors. Some information can only be discovered via DNA testing today, distant Native heritage, for example, breaking through brick walls.

This technology, as it has advanced and more people have tested, has been a godsend for genealogists. The same techniques have allowed other people to locate unknown parents, grandparents and close relatives.

Adoptees

Not only are genealogists identifying people long in the past that are their ancestors, but adoptees and those seeking unknown parents are making discoveries much closer to home. MyHeritage has twice provided thousands of free DNA tests via their DNAQuest program to adoptees seeking their biological family with some amazing results.

The difference between genealogy, which looks back in time several generations, and parent or grand-parent searches is that unknown-parent searches use matches to come forward in time to identify parents, not backwards in time to identify distant ancestors in common.

Adoptee matching is about identifying descendants in common. According to Erlich et al in an October 2018 paper, here, about 60% of people with European ancestry could be identified. With the database growth since that time, that percentage has risen, I’m sure.

You can read more about the adoption search technique and how it is used, here.

Adoptee searches have spawned their own subculture of sorts, with researchers and search angels that specialize in making these connections. Do be aware that while many reunions are joyful, not all discoveries are positively received and the revelations can be traumatic for all parties involved.

There’s ying and yang involved, of course, and the exact same techniques used for identifying biological parents are also used to identify cold-case deceased victims of crime as well as violent criminals, meaning rapists and murderers.

Crimes Solved

The use of genetic genealogy and adoptee search techniques for identifying skeletal remains of crime victims, as well as identifying criminals in order that they can be arrested and removed from the population has resulted in a huge chasm and division in the genetic genealogy community.

These same issues have become popular topics in the press, often authored by people who have no experience in this field, don’t understand how these techniques are applied or function and/or are more interested in a sensational story than in the truth. The word click-bait springs to mind although certainly doesn’t apply equally to all.

Some testers are adamantly pro-usage of their DNA in order to identify victims and apprehend violent criminals. Other testers, not so much and some, on the other end of the spectrum are vehemently opposed. This is a highly personal topic with extremely strong emotions on both sides.

The first such case was the Golden State Killer, which has been followed in the past 18 months or so by another 100+ solved cases.

Regardless of whether or not people want their own DNA to be utilized to identify these criminals and victims, providing closure for families, I suspect the one thing we can all agree on is that we are grateful that these violent criminals no longer live among us and are no longer preying on innocent victims.

I wrote about the Golden State Killer, here, as well as other articles here, here, here and here.

In the genealogy community, various vendors have adopted quite different strategies relating to these kinds of searches, as follows:

  • Ancestry, 23andMe and MyHeritage – have committed to fight all access attempts by law enforcement, including court ordered subpoenas.
  • MyHeritage, Family Tree DNA and GedMatch allow uploads, so forensic kits, meaning kits from deceased remains or rape kits could be uploaded to search for matches, the same as any other kit. Law Enforcement uploads violate the MyHeritage terms of service. Both Family Tree DNA and GEDmatch have special law enforcement procedures in place. All three companies have measures in place to attempt to detect unauthorized forensic uploads.
  • Family Tree DNA has provided a specific Law Enforcement protocol and guidelines for forensic uploads, here. All EU customers were opted out earlier in 2019, but all new or existing non-EU customers need to opt out if they do not want their DNA results available for matching to law enforcement kits.
  • GEDmatch was recently sold to Verogen, a DNA forensics company, with information, here. Currently GEDMatch customers are opted-out of matching for law enforcement kits, but can opt-in. Verogen, upon purchase of GEDmatch, required all users to read the terms and conditions and either accept the terms or delete their kits. Users can also delete their kits or turn off/on law enforcement matching at any time.

New Concerns

Concerns in late 2019 have focused on the potential misuse of genetic matching to potentially target subsets of individuals by despotic regimes such as has been done by China to the Uighurs.

You can read about potential risks here, here and here, along with a recent DoD memo here.

Some issues spelled out in the papers can be resolved by vendors agreeing to cryptographically sign their files when customers download. Of course, this would require that everyone, meaning all vendors, play nice in the sandbox. So far, that hasn’t happened although I would expect that the vendors accepting uploads would welcome cryptographic signatures. That pretty much leaves Ancestry and 23andMe. I hope they will step up to the plate for the good of the industry as a whole.

Relative to the concerns voiced in the papers and by the DoD, I do not wish to understate any risks. There ARE certainly risks of family members being identified via DNA testing, which is, after all, the initial purpose even though the current (and future) uses were not foreseen initially.

In most cases, the cow has already left that barn. Even if someone new chooses not to test, the critical threshold is now past to prevent identification of individuals, at least within the US and/or European diaspora communities.

I do have concerns:

  • Websites where the owners are not known in the genealogical community could be collecting uploads for clandestine purposes. “Free” sites are extremely attractive to novices who tend to forget that if you’re not paying for the product, you ARE the product. Please be very cognizant and leery. Actually, just say no unless you’re positive.
  • Fearmongering and click-bait articles in general will prevent and are already causing knee-jerk reactions, causing potential testers to reject DNA testing outright, without doing any research or reading terms and conditions.
  • That Ancestry and 23andMe, the two major vendors who don’t accept uploads will refuse to add crypto-signatures to protect their customers who download files.

Every person needs to carefully make their own decisions about DNA testing and participating in sharing through third party sites.

Health

Not surprisingly, the DNA testing market space has cooled a bit this past year. This slowdown is likely due to a number of factors such as negative press and the fact that perhaps the genealogical market is becoming somewhat saturated. Although, I suspect that when vendors announce major new tools, their DNA kit sales spike accordingly.

Look at it this way, do you know any serious genealogists who haven’t DNA tested? Most are in all of the major databases, meaning Ancestry, 23andMe, FamilyTreeDNA, MyHeritage and GedMatch.

All of the testing companies mentioned above (except GEDmatch who is not a testing company) now have a Health offering, designed to offer existing and new customers additional value for their DNA testing dollar.

23andMe separated their genealogy and health offering years ago. Ancestry and MyHeritage now offer a Health upgrade. For existing customers, FamilyTreeDNA offers the Cadillac of health tests through Tovana.

I would guess it goes without saying here that if you really don’t want to know about potential health issues, don’t purchase these tests. The flip side is, of course, that most of the time, a genetic predisposition is nothing more and not a death sentence.

From my own perspective, I found the health tests to be informative, actionable and in some cases, they have been lifesaving for friends.

Whoever knew genealogy might save your life.

Innovative Third-Party Tools

Tools, and fads, come and go.

In the genetic genealogy space, over the years, tools have burst on the scene to disappear a few months later. However, the last few years have been won by third party tools developed by well-known and respected community members who have created tools to assist other genealogists.

As we close this decade, these are my picks of the tools that I use almost daily, have proven to be the most useful genealogically and that I feel I just “couldn’t live without.”

And yes, before you ask, some of these have a bit of a learning curve, but if you are serious about genealogy, these are all well worthwhile:

  • GedMatch – offers a wife variety of tools including triangulation, half versus fully identical segments and the ability to see who your matches also match. One of the tools I utilize regularly is segment search to see who else matches me on a specific segment, attached to an ancestor I’m researching. GedMatch, started by genealogists, has lasted more than a decade prior to the sale in December 2019.
  • Genetic Affairs – a barn-burning newcomer developed by Evert-Jan Blom in 2018 wins this years’ “Best” award from me, titled appropriately, the “SNiPPY.”.

Genetic Affairs 2019 SNiPPY Award.png

Genetic Affairs offers clustering, tree building between your matches even when YOU don’t have a tree. You can read more here.

2019 genetic affairs.png

Just today, Genetic Affairs released a new cluster interface with DNAPainter, example shown above.

  • DNAPainter – THE chromosome painter created by Jonny Perl just gets better and better, having added pedigree tree construction this year and other abilities. I wrote a composite instructional article, here.
  • DNAGedcom.com and Genetic.Families, affiliated with DNAAdoption.org – Rob Warthen in collaboration with others provides tools like clustering combined with triangulation. My favorite feature is the gathering of all direct ancestors of my matches’ trees at the various vendors where I’ve DNA tested which allows me to search for common surnames and locations, providing invaluable hints not otherwise available.

Promising Newcomer

  • MitoYDNA – a non-profit newcomer by folks affiliated with DNAAdoption and DNAGedcom is designed to replace YSearch and MitoSearch, both felled by the GDPR ax in 2018. This website allows people to upload their Y and mitochondrial DNA results and compare the values to each other, not just for matching, which you can do at Family Tree DNA, but also to see the values that do and don’t match and how they differ. I’ll be taking MitoYDNA for a test drive after the first of the year and will share the results with you.

The Future

What does the future hold? I almost hesitate to guess.

  • Artificial Intelligence Pedigree Chart – I think that in the not-too-distant future we’ll see the ability to provide testers with a “one and done” pedigree chart. In other words, you will test and receive at least some portion of your genealogy all tidily presented, red ribbon untied and scroll rolled out in front of you like you’re the guest on one of those genealogy TV shows.

Except it’s not a show and is a result of DNA testing, segment triangulation, trees and other tools which narrow your ancestors to only a few select possibilities.

Notice I said, “the ability to.” Just because we have the ability doesn’t mean a vendor will implement this functionality. In fact, just think about the massive businesses built upon the fact that we, as genealogists, have to SEARCH incessantly for these elusive answers. Would it be in the best interest of these companies to just GIVE you those answers when you test?

If not, then these types of answers will rest with third parties. However, there’s a hitch. Vendors generally don’t welcome third parties offering advanced tools and therefore block those tools, even though they are being used BY the customer or with their explicit authorization to massage their own data.

On the other hand, as a genealogist, I would welcome this feature with open arms – because as far as I’m concerned, the identification of that ancestor is just the first step. I get to know them by fleshing out their bones by utilizing those research records.

In fact, I’m willing to pony up to the table and I promise, oh-so-faithfully, to maintain my subscription lifelong if one of those vendors will just test me. Please, please, oh pretty-please put me to the test!

I guess you know what my New Year’s Wish is for this and upcoming years now too😊

What About You?

What do you think the high points of 2019 have been?

How about the decade?

What do you think the future holds?

Do you care to make any predictions?

Are you planning to focus on any particular goal or genealogy problem in 2020?

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Disclosure

I receive a small contribution when you click on some of the links to vendors in my articles. This does NOT increase the price you pay but helps me to keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.

Thank you so much.

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MyHeritage LIVE 2019 Day 2 and Party

Let’s start out with some trivia.

Did you know that the Hilton Amsterdam is the home of this famous photo?

MyHeritage Live Beatles

No, well me either. I’m glad someone told me on Sunday. Kind of explains the Beatles themed party Saturday evening.

MyHeritage Live Beatles suite

As for the Beatlemania party, I’ll save those photos for last😊

Please note that I’m still traveling and these photos are rather rough – so please keep that in mind.

MyHeritage LIVE Day 2

There was lots to see and do on Sunday – a DNA track, a genealogy track and also a hands-on lab series.

MyHeritage Live shoe

I floated between several sessions hoping to improve my search skills in the morning. It was difficult to choose, but fortunately, you don’t have to because they are all going to be available shortly at Legacy Tree Webinars.

MyHeritage Live Alon Carmel

I popped into The WorldWide DNA Web by Alon Carmel to learn a bit more about the upcoming ethnicity release.

I also attended Evaluating Your Smart Matches and Record Matches by James Tanner. My phone decided to misbehave and I don’t have any photos of this session. I had never heard James speak before and I encourage you to watch his session when the webinars become available.

I understand from others that his session in the afternoon, Developing Your Own Research Plan at MyHeritage, was excellent, especially for someone just starting out.

The session I found the most interesting from Day 2 of the #MyHeritageLIVE conference was the one dealing with the MyHeritage health test.

MyHeritage Live Yaniv Erlich

First, I found the scientific aspect fascinating as presented by Dr. Yaniv Erlich (PhD, not MD).

MyHeritage Live Gilad audience

Gilad Japhet, MyHeritage CEO, joined us in the audience.

MyHeritage Live vantage

As you probably know, MyHeritage added the Health test earlier this year. I ordered mine and have been waiting to finish writing the article until after this conference.

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MyHeritage reports on 27 conditions, including 14 diseases and 13 carrier reports.

I feel it’s particularly important that in the US, the test is physician ordered. This means that when you order the test, you answer a few questions that are automatically submitted to PWNHealth where they are reviewed by a physician to determine if a genetic health test is appropriate for you.

The test is then run in a CLIA certified lab – meaning the test is a medical grade test.

Then, the results are reviewed by a physician. If your results are in the high risk range, a second test is performed using a different type of technology to verify the results before they are returned to you – at no charge to you.

If the results are in the high risk range and would be concerning, you are provided with a genetic counseling session – also at no charge.

I feel this is particularly important.

Yaniv provided additional detail which I will include in my upcoming article.

Yaniv said something that I think is particularly relevant – seeing the results in black and white sometimes encourages people to make decisions and act in a different way than simply hearing your physician say to live a healthy lifestyle during your yearly physical.

My Own Experience

I had not told anyone at MyHeritage about my own experience with genetic health testing before the MyHeritage LIVE conference.

The day before the MyHeritage Health Panel discussion, I decided that I was going to tell my own story during the session if the opportunity arose and it was appropriate. I think it’s important, not just to me, but perhaps to you too.

MyHeritage Live health panel

The health panel included Geoff Rasmussen as moderator, at left, Diahan Southard, me and Yaniv Erlich, left to right.

I’m not intimidated by much, but talking about your own health publicly can be daunting. People are very sensitive and often embarrassed by health topics, especially ones like type two diabetes and weight because they are sometimes viewed as character defects, not health issues. In any case, I was a bit nervous.

However, I decided when I launched my blog 7 years ago that I was going to be transparent. I really think stories like mine can help others.

I have two points to make.

  1. Genetics isn’t destiny.

With very few exceptions, genetics isn’t destiny. You may have a genetic predisposition for a disease, but you may also be able to mitigate that disease with lifestyle and environmental changes. You may want to monitor that aspect of your health more closely. You have choices.

Forewarned is forearmed.

  1. Knowledge is power.

My sister had breast cancer and underwent a radical mastectomy in 1988.

Several years ago, I took a medical genetics health test.

We thought my sister was cancer free and had dodged that bullet. She and her husband were traveling when I received a phone call from my brother-in-law that my sister had experienced a heart attack. She died the next day.

Some years ago, I took a direct-to-consumer medical test focused on health results to see if I too carried a predisposition for breast cancer. I was relieved to discover that I do not, BUT – I discovered something I didn’t expect. I carried an elevated risk for heart disease.

Not in the red (danger) range, but knowing that my sister died of a heart attack in addition to this elevated risk was enough to get my attention in a way that nothing else ever had before.

I knew I had to do something.

I was heavy.

So was my sister.

I was not able to lose weight and keep it off.

Neither was my sister.

I knew I had to do something about this, and I decided after much deliberation to have bariatric surgery to facilitate weight loss. If you’re thinking for one minute that I took the “easy way out,” you’re sorely mistaken. Regardless of the methodology, I was and remain successful and that’s all that matters.

Now, a decade later, I not only lost a significant amount of weight, I’ve kept it off. My BMI is normal, I’m not diabetic and I’m healthier and feel better than I did before the surgery.

My quality of life is greatly improved and the chances of me developing obesity-related diseased are greatly reduced – including heart disease and diabetes, although I don’t have an elevated genetic risk for that.

However, obesity itself is a risk factor for diabetes, without genetics. No risk factors also doesn’t mean you won’t get the disease. It only means there’s not a currently known genetic element.

Yaniv showed a chart that indicated that people at high risk of diabetes are more sensitive to high BMI. Furthermore, if you have high risk of either heart disease or diabetes, you need to and can minimize the risk of the other factor.

These predispositions are not a death sentence, BUT DOING NOTHING IS! Sooner than later.

I will be writing an article shorting detailing my results and including several slides from Yaniv’s session. I want to be sure I fully understand them before publication, so I’ll need to follow up with Yaniv before completing that article.

I know I had made the right decision for me, but seeing the actual data confirmed it.

Furthermore, it’s not just about me. I have a husband, two children and grandchildren and I want to spend as much quality time with them as possible in this lifetime.

There are two critical words there.

Quality and time.

I know that not everyone wants to know about their health predispositions. I understand and it’s a personal decision for everyone.

I hope you’ll consider health testing.

There are more perspectives than mine, and more topics were covered during the panel discussion – such as differing opinions as to whether children should be tested. I hope you’ll view the session when they become available through Legacy Tree Webinars. All panelists had important points worth considering and things I hadn’t thought about.

Party

Now for Beatlemania.

I’m actually not a big party person, but MyHeritage provided props for party-goers and everyone had fun. Some folks danced. Some hung out and others sat in the lobby chatting.

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Here are Jonny Perl (DNAPainter) and Evert-Jan Blom (Genetic Affairs) talking.

MyHeritage Live Jonny and EJ

And later at the party in their Beatlemania garb.

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Geoff Rasmussen of Legacy Tree Webinars and Daniel Horowitz of MyHeritage.

MyHeritage Live Marianne Melcherts

Marianne Melcherts of MyHeritage (who you can find in the MyHeritage Facebook Users’ Group) and me. Yes, we’re both Dutch or have Dutch heritage.

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Here – this is better!

MyHeritage Live Ran Snir

Cheese and tulips. Ran Snir of MyHeritage (right) and someone whose name escapes me at the moment. (Sorry.)

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Everyone was having so much fun! These lovely folks came from Texas.

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The folk dancers were amazing. Look at that lace cap.

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Even the dancers had fun.

What’s Next?

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Aaron Godfrey provided the closing session.

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This event was an amazing success. I can’t wait to see how many people tuned in by livestream.

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Aaron had one more story for us.

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A 99 year old lady DNA tested to find her biological father and found a close match. There was a family rumor…

The family wanted to meet her.

MyHeritage Live reunion

On her birthday.

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At a surprise party!

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I swear, MyHeritage needs to start including boxes of tissues in the goody bags! Don’t wait to DNA test. You never know who’s waiting for you!

I hope you’ve enjoyed coming along with me to #MyHeritageLIVE 2019 in Amsterdam.

But wait – there’s one more announcement!

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Yes, there is going to be a MyHeritage LIVE 2020.

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The plan is for Israel, although a date won’t be announced until a venue can be finalized.

Lots of conference attendees were very excited and already making plans to attend.

In closing, I hope you’ll do the following:

Start making at least tentative plans for Israel!

Have fun and enjoy your genealogy. More and more records are becoming available every single day and may hold gems for you.

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Disclosure

I receive a small contribution when you click on some of the links to vendors in my articles. This does NOT increase the price you pay but helps me to keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.

Thank you so much.

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DNA.Land

DNA.Land first launched in October of 2015, a free upload site whose goal is to encourage sharing to enable scientists to make new discoveries including the initiative to understand what is needed for a cure for breast cancer by 2020.

Their purpose, as stated by DNA.Land in their FAQ:

DNA.Land is a place where you can learn more about your genome while enabling scientists to make new genetic discoveries for the benefit of humanity. Our goal is to help members to interpret their data and to enable their contribution to research.

DNA.Land has invested a lot of effort into providing tools for genetic genealogists in order to encourage them to upload their autosomal DNA testing results to DNA.Land and participate in research in exchange for having access to their tools.

Let’s step through the process and take a look at their offerings.

If you’re interested in participating, the first thing to do is to register and the next step is the consent process.

Consent

If you are considering participation, or uploading your DNA to utilize their ethnicity or matching services, you must sign their consent form. Needless to say, you need to fully read the consent form before clicking to authorize, at DNA.Land and anyplace else.

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

Upload Your File

After you click to approve and continue, you’ll be asked to select a file to upload. I chose Family Tree DNA Build 37.

Research Questions

Given that the focus of DNA.Land is medical research, you’ll be asked questions about yourself and your ancestry, such as your birthdate, as well as that of your parents.

I joined the Breast Cancer research and authorized researchers to contact me.

You are then asked, “Is this file your file?” DNA.Land wants to be absolutely sure you are providing information for your own file, and not someone else’s.

DNA.Land then asks questions related to your family and breast cancer. I answered the questions, agreed to be contacted if there are questions and joined the study.

You’ll answer questions about whether your parent, full siblings or children have been diagnosed with breast cancer, as well as questions about yourself.

I was excited to see that I was the 7,456th person to join the breast cancer initiative, but then I realized that their goal is 25,000 by the end of 2017. They have a LONG way to go. Please consider joining.

Your Personal Page

Your personal page includes your file status, the research projects in which you are participating as well as reports available.

Your file status is shown at the bottom of the page, including links to learn more.

About Imputation

DNA.Land was the first vendor to attempt imputation. I wrote about imputation in the article, Concepts – Imputation. I also wrote about matching with a vendor who utilizes imputation in the article Imputation Matching Comparison.

Imputation affects your matches, segment sizes and the quality of those matches. If you’re not familiar with imputation, I would strongly suggest reading these articles now.

While I’m incredibly supportive of the breast cancer and research initiatives, I’m less excited about the accuracy of imputation relative to genetic genealogy. Let’s take a look.

My Reports

Now that I’m done with setup and questions, I’m ready to view information about my own DNA results according to DNA.Land. Remember that these results include imputed information, meaning data that was imputed to be mine in regions not tested based on my DNA in regions that have been tested. My Family Tree DNA file that I uploaded held over 700,000 tested locations, and DNA.Land imputes another 38 million locations based on the 700,000 that were actually tested.

You can select from various My Reports options:

  • Find Relatives
  • Find Relatives of Relatives
  • Ancestry Report
  • Trait Prediction Report

Let’s look at each one.

Find Relatives

As of today, just over 70,000 individuals have uploaded, an increase of 10,000 in just under two months, so the site is rapidly growing.

The first page is DNA Relationship Matches. The match below is my closest match to cousin, Karen. I wrote about dissecting this match in the article Imputation Matching Comparison.

You can show or hide the chromosome table at far right. Segments are divided into recent and ancient based on the segment size. I’m not sure I would have used the term “ancient,” but what DNA.Land is trying to convey is that more often, smaller segments are older than larger segments.

I have 11 High Certainty matches and 1 speculative.

The information page explains more. Click on the “Learn more about the report” link in the upper left hand corner, which displays the following example information.

All reported segments are 3.00 cM or larger.

Very beneficially, my closest match, Karen, showed her GedMatch kit number as her middle name. I utilized her file at GedMatch and her results at DNA.Land to compare raw data file matching and imputed file matching. You can read about the findings in the article, Imputation Matching Comparison.

Based on imputed matching, I’m not sure that today I would have much confidence in matches to the relatives of relatives, but let’s take a look anyway.

Find Relatives of Relatives

Relative of relatives is a big confusing.  Think if it as an alternate to a chromosome browser.  Here’s what their information page says about this feature.

This is a bit confusing. The “via” relative is the person on your match report.

The first person listed, or the “endpoint” relative is the person related to them.

The intersection is the set of intersecting matching segments between you, your match and their match that (apparently) also matches you, or they would not be on this report.

Here’s a Relatives of Relatives match with my strongest match, Karen.

The problem is that the person shown as Karen’s match, Shelley, is not shown as my match.  The common matching segments between the three of us, shown above and below, are very small.  Even though Shelley is a match to Karen, Shelley apparently only matches me on smaller segments, not large enough to pass the DNA.Land threshold for a match.

The problem is that all of the above matching and triangulating segments above are imputed segments and don’t show up as legitimate matches at GedMatch between me and Karen, so they can’t be a valid three way match between me, Karen and Shelley.

In other words, these aren’t valid matches at all, even before the discussion about whether they are identical by descent, chance or population.  Therefore, these have to be matches on imputed regions, not through actual testing.

The certainty field is also confusing.  I initially though that the “high” certainty pertained to the three way match certainty, but it doesn’t.  Certainty means the certainty of the match between your match (the via relative) and the endpoint (their match) and has nothing to do with the certainty of the segments matching the three of you being relevant.

If you’d like to utilize this information, please read the information pages VERY CAREFULLY and be sure you understand what the information, is, and isn’t, telling you.

Ancestry Report (Ethnicity)

The Ancestry report is DNA.Land’s ethnicity report.

Looking at the map, it’s difficult to compare the DNA.Land results to other vendors, because they have Scandinavia divided into half, with the westernmost part of Scandinavia included in their Northwest Europe orange grouping, the light green designated as Finnish with the olive green as North Slavic. Other vendors include Norway and all of Sweden as part of Scandinavia.

One nice thing is that the population reference locations are shown on the map below, even for non-matching reference groups.

In my case, DNA.Land missed my Native American entirely.

The chart below represents my known and proven genealogy as compared to the DNA.land ethnicity results.

You can see how DNA.Land stacks up against the rest of the vendors, below.

Trait Prediction Report

The trait report requires an additional consent form. In essence, DNA.Land wants to make sure you really want to see your traits, that you understand what you are going to see and that you understand how traits are calculated and displayed.

DNA.land offers several traits you can select from.

But there’s a hitch.

Before you can see your traits, you get to answer a survey. In all fairness, DNA.Land’s purpose is medical research, and the reports participants receive are free.

My eye color is accurate, BUT, I also just told them that my eye color is dark brown during the questions. Not terribly confidence inspiring – but my confidence increased  after reviewing all of the information they provided about the science behind my actual trait prediction.

The eye color map, above, is something unique I haven’t seen elsewhere. I find this kind of information quite interesting.

Even though I did provide DNA.Land with the “brown eyes” answer, this chart makes me feel much better, because they shared the science behind my result with me. Therefore, I now feel much better, because, based on the science, it’s apparent that they didn’t just parrot my result back to me.

There is also a “what if my result is wrong” link. After all, science is all about continuing to learn and to think we know everything there is to know about genetics is foolhearty.

Yea, I like this a LOT!

If you’d like to read more about how genetic research takes place, read the interesting article titled Is there a Firefox Gene? Yes, that’s the Firefox browser, and yes, this is a real study. Take a look. It’s really quite interesting and written in plain English.

Summary

DNA.Land has a different purpose than other DNA matching and ethnicity sites. As a nonprofit, DNA.Land offers their matching and ethnicity services as an enticement to genetic genealogists who have paid to test elsewhere to upload their results to DNA.land and in doing so, to participate in medical research.

DNA.Land is absolutely up front about their mission. The features are “complimentary,” so to speak, meant to be enticements to consumers to participate and contribute their DNA results.

Given that, it’s difficult to be terribly upset with DNA.Land’s features and services.

DNA.Land has a nice user interface and some nice display features. Their eye color mapping isn’t found elsewhere, and other similar features would make great teaching tools. Their help pages are informative and educational.

Imputation concerns me. Imputation for medical research doesn’t directly affect me today, although it may someday, given that imputed data is used for research.

Imputed data does affect your results at Promethease if you choose to utilize your imputed results as input for any application that reports your academic and/or medical mutations. You can read about that in the article, Imputation Analysis Using Promethease.

Imputation affects matching for genetic genealogy negatively. While I didn’t discuss matching quality in this article, I did in the article Imputation Matching Comparison, which I would encourage you to read if you are attempting to utilize the DNA.Land matching function seriously for genealogy. I would encourage genetic genealogists to simply match at the vendor where they tested, or at Family Tree DNA which accepts uploads (Ancestry V1, V2 and 23andMe V3, V4) from other vendors, or at GedMatch for serious match analysis.

My suggestion to DNA.Land for matching would be to eliminate the smaller segments entirely, especially if they are a result of imputation and not actual matching DNA segments. In my limited experiment, DNA.Land seemed to do relatively well on matching and utilizing larger segments.

Ethnicity results at DNA.Land, called Ancestry Results, are divided oddly, with Northwestern Europe including all of the British Isles, western Scandinavia along with the northwest quadrant of continental Europe. This division makes it extremely difficult to compare to other vendors’ results.

DNA.Land seems to report an unrealistic amount of Southern European, but again, it’s somewhat difficult to tell where the dividing line occurs. It would be easier if their ethnicity map were overlayed on a current map of Europe showing country boundaries. DNA.Land missed my Native entirely.

It would be interesting to know how much of the ethnicity results are calculated on actual DNA and how much through imputation. Ethnicity results tend to be dicey enough in the industry as a whole without adding the uncertainty of imputation on top. Having said that, given how popular ethnicity testing has become, offering another ethnicity opinion is probably a large draw for attracting people to upload and participate in research at DNA.Land.

Some of the trait information is quite interesting and new traits will probably be equally so, although I wonder how much of that information is imputed as well. In other words, I don’t know if the results are actually “mine” through testing or could be in error. The good news is that DNA.Land provides the genetic locations where the trait analysis is compiled, allowing you to utilize a service like Promethease which provides the ability in some cases to confirm imputed data if you upload your actual tested files from testing vendors.

For all results, I would very much like to see a toggle where you can toggle between actual match results and match results derived from imputation.

I would also like to see some research about the accuracy of imputation as compared to non-imputed results. Clearly this would be available through research efforts like my own at Promethease, exome and full genome sequencing.

In a nutshell, DNA.Land provides an interesting free service so long as you don’t want to take the results terribly seriously for genealogy research. If any of the results are important or you want to depend upon them for accuracy, verify elsewhere with actual tested data.

It’s important to remember at DNA.Land that their real goal isn’t to provide a product or to compete with the testing vendors. Their features are a “thank you” or enticement for consumers to contribute their autosomal data for medical research, some of which may be “for profit.”  Companies aren’t going to participate in research initiatives that don’t hold the potential for profit.

I really didn’t need an enticement, but I’m grateful nonetheless.

Additionally, DNA.Land has provided an important first foray into imputation and allowed us to compare imputed data with tested data. I know that wasn’t their goal, but I’m glad to have the opportunity to learn and work with real life examples. My own. I would encourage you to do the same.

Be Part of the Cure

The last thing I have to say is that I truly hope and pray that the Breast Cancer Deadline shown as 2020 is a real and achievable goal.

I welcome the opportunity for anything I can to do help eliminate that horrific scourge that has affected so many women. Breast cancer has taken the lives of my family members and friends, as I’m sure it has yours, and I would like nothing better than to participate in some small way in wiping it off the face of the earth. DNA.Land is one way you can help, and it costs you absolutely nothing.

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Disclosure

I receive a small contribution when you click on some of the links to vendors in my articles. This does NOT increase the price you pay but helps me to keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.

Thank you so much.

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Genos – A Medically Focused DNA Exome Test

Update: As of July 2019, this test and my results are now at https://genos.co after Genos was sold. Original article follows below.

On June 21, 2016, I placed an order for a DNA test with a new company, Genos at http://www.genosresearch.com. The first week of October I received my results.

Genos is a new type of testing company, focused not on genealogy, but on the human exome and medical conditions. Of course, that doesn’t mean that the genetic genealogy community might not find a way to utilize these tests in the future – but today this test is not useful genealogically.

A typical genetic genealogy autosomal test tests between roughly 500,000 and 900,000 locations to compare to others to determine kinship. These are the most variable locations in our genome, the ones most likely to differ from each other and be genealogically useful.

Exome testing, on the other hand, tests 50 million locations – the ones most often medically relevant and the ones we know the most about. Testing the 99% or so of our genome that is exactly like every other human is pointless, for either genetic genealogy or medicine.

What is an Exome?

What is the exome? Genos explains.

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Let’s step through the ordering process, then look at my results. They are very interesting.

What is Genos?

Before ordering, I did a bit of research on what Genos offers, what makes them different, and what kind of potential they might have to help me understand my own genes and conditions that makes me unique.

Let’s take a look.

Founders

Genos was founded by these two men.

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The next tab is Values, and I’m really impressed, especially with number 4, below.

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And the Genos Vision:

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Let’s move to the Product page.

Product

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Ordering

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Your DNA at Genos is yours, entirely, and you can choose when, where and if you want to participate in studies, unlike Ancestry and 23andMe where the consent you MUST AGREE TO in order to activate your kit includes allowing them to sell and profit from your DNA.

Family Tree DNA does NOT sell your DNA. Family Tree DNA does not want the genetic genealogy community to associate genetic genealogy testing with medical testing, because of concerns that it might discourage some people from testing for genealogy.

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Before ordering, as with any DNA sequencing product or service, please read the Genos Terms of Service here. The Privacy Policy is here and the Terms of Use are here. These are all actually different parts of one larger document titled “Genos Legal Policies.”

As far as I’m concerned, this is the overarching important sentence:

We do not sell, lease, or rent your User Information without your explicit consent.

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Also keep in mind that as with all companies, policies can and do change over time – and it’s the consumer’s responsibility to stay current with the policies of any company you do business with.

A New Business Model

Genos is trying a new business model both in terms of testing the entire exome and in terms of allowing participants to actively participate in selecting research projects, so I decided to be on the frontier of this brave new world. You pay for the sequencing, but the results are yours, forever, whether you participate in medical research projects or not, and Genos doesn’t sell your DNA or otherwise share your DNA results without your permission. You own it and you control it. Period.

I want to contribute to and facilitate research, but I want to select the research projects in which I choose to participate. I don’t feel that it’s ethically or morally right for a company to in essence capture and co-opt my DNA by holding forth the lure of my ancestors as bait. Both Ancestry and 23andMe participate in this unsavory practice. The Genos model very specifically does NOT do that.

Right now, the Genos Exome sequencing product and services are in BETA.

I was the 98th person to order this test, although I’m sure many more have ordered since June.

Let’s take a look at my results.

My Personal Logo

The first thing Genos does is to introduce you to your genome by creating a personal logo for you, if you select that option. I did, of course.

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The circle twirled and locations on my chromosome lit up, like tiny fireflies. I wish I had taken a video.

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Next, my unique logo, derived from my DNA, was displayed beside my name.

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OK, that was fun, but now, let’s look at the data and what, as a consumer, I receive.

The Four Options

Your results are broken down into 4 categories. You can explore your genome, click on Health Identity, view the News or look at the educational Genomics 101 section.

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I first spent a few minutes looking at Genomics 101 which is professional and well written. It includes chapters covering questions like, “What is a gene?”

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The News section includes links to articles you may find of interest. Of course, I was dying to see my results, so I quickly moved on to the “Explore Genome” tab, where I saw the Map Your Genome page. So, let’s map my genome.

Map Your Genome

Genos compares your genome of the standardized Genome Reference Consortium reference model.

On the page, below, Genos shows me the 44,154 locations where I vary from the reference model, of which only 773 of these have known medical affiliations or mentions in medical papers. The key word here, of course, is KNOWN. The rest of the variants could be family differences, recently introduced or perhaps from generations back in time. Those locations may not be medically significant, or they may be, but we just don’t know how yet. Time and research will tell.

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Out of the 50 million loci (locations) sequenced, I have 773 variants which are certainly of interest and may or may not be relevant medically.

I wondered what happens when a new variant is discovered to be medically relevant or found in a new paper. Would my 773 become 774, or is this a static page, really only relevant to today? I wrote and asked Genos, and discovered that their customer support is very prompt, courteous and helpful. Here’s what they had to say.

At no additional cost to you, as the information in ClinVar (the NIH sponsored database) is updated with new assessments and new discoveries, your data will be automatically updated through our digital experience. This ensures that you are always aware of the latest literature available.

This is great news, making this product infinitely useful (medically) into the future.

You can view all of your chromosomes with the chromosome number and the number of identified variants present on each chromosome, below.  Please note that you can click on any image to see a larger version.

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Genos allows you to browse your medically relevant variants and what they may mean. The results are broken down into “Conditions” and “Traits,” as seen at right, above.

The Conditions are health related, but just because you have a mutation that may be associated in literature with a particular condition, that does NOT mean you have or will ever be diagnosed with that condition. In fact, as you can see, the literature itself is often contradictory. We don’t always understand what makes one person get a disease while another person does not.

For this reason, nearly every page that involves conditions also contains a link to genetic counselors along with cautionary messages that succinctly warn people against assuming that variant=disease. It doesn’t.

Individual Chromosomes

You can explore each chromosome individually.

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I clicked on variant 1, on chromosome 1, above.

If I click on the NEXN with the right arrow, I see the display below.

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If I click on the G>A which means the normal G nucleotide at this location has been replaced with an A in my case, I see the following:

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I can then read more about this gene and the mutational variant.

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I must tell you that I feel very empowered by having my own genetic information at my fingertips that was previously entirely unavailable to me, or available only through a medical provider, if at all.

Conditions

Moving now to the Conditions link on the right hand side of the main page, I can see the following conditions, grouped by category.

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You can explore the Conditions link for conditions associated with your variants, the Traits or the Variants themselves.

By clicking on the icons, you can see how many variants you have in each category. The first category is allergies.

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For example, here is one of my Conditions. I’ve chosen to share this one because you can tell by looking at my picture that I am clearly NOT albino.

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Still, I carry at least one mutation associated with this condition.

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Almost every single page carries this warning verbiage, which is proven by my albinism mutation and my somewhat younger photo when my hair was still its original color!

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Variants

Variants are divided into groups.

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Most of my findings are benign. Whew!!!

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This is an example of one of my benign variants.

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You can see that while this mutation is mostly benign, or green, some papers show it to fall into the other risk categories.

Please note the verbiage at the bottom of the screen.

“What is believed to be true today may be disproven tomorrow.” That’s part of why I’m participating in this type of testing.

The screen for each variant goes on to provide the links to the studies themselves, which may or may not agree, so you can read and digest for yourself. Please, unless you’re an MD, do not attempt to be your own doctor!

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Traits

The Traits at Genos are the same traits that are tested and reported by other testing firms as well.

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Like other genetic values, variants and results, these may or may not be accurate. My hair is very thick, as you can see from my photo, I taste bitter very well, unfortunately, and my skin is not light…at least not for someone primarily Caucasian. Some of these traits are clearly subjective. They make for interesting party conversation.

Health Identity

The next section of the website if for Health Identity. This is where you provide information about yourself and your health history. 

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If you’re going to participate in this type of endeavor, it’s important to provide Genos with as much information as possible. That’s one avenue for Genos to know who would might be a good candidate for specific kinds of research.

Research

While there aren’t any research projects yet underway today, there will be in the future.

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And last but not least…

Genetic Counselors

If you discover something you would like to know more about, or that concerns you, you can make contact with a genetic counselor through the Genos site.

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Caveat

I am, personally, very much an advocate of genetic research, when it is preformed ethically, transparently and with full disclosure. As far as I’m concerned, Genos absolutely fits that bill.

However, if someone were prone to anxiety or hypochondria, this type of testing might not be a good fit.

I’m not prone to either, and I have a very high risk tolerance level, but I still am inclined to spend quite a bit of time looking at the variants that aren’t benign. If you are in the “don’t want to know” camp, then don’t test. Bottom line.

Let me say this again.

Don’t test if you really don’t want to know.

You cannot put the genic back into the bottle once it’s out.

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Exome testing is different than genetic genealogy testing and has the potential to reveal information which may be frightening or distressing to some people, which is why I shared my results with you in such detail.

Looking to the Horizon

Having said that, I find exome testing absolutely fascinating. I would like to see if my children have the same variants that I do. Did they inherit those from me or did those variants bite the dust in my generation? Are there variants that I carry one of and my children have two, meaning their father contributed one as well? What does this mean, health-wise, potentially, for my grandchildren?  What did they inherit?

Of course, today, exome comparisons between individuals are not possible at Genos (or elsewhere), but perhaps in the future?

Could this type of testing be a step forward in identifying conditions and diseases not yet “discovered” as we define them today? Some mutations affect particular individual family lines negatively, and sometimes fatally. Can exome testing help these families, if not today, then tomorrow? Exome testing certainly has that and a lot more potential.

I’m excited about being able to select and participate in research studies with the ability for the researchers to contact me to follow up many years into the future, if need be. The new Genos model allows citizens willing to have their exome sequenced the opportunity to help shape the future of medical understanding and potentially, contribute to treatments and cures – in addition to learning a great deal about their own DNA and literally what makes them tick.  Which studies you participate in and what happens to your DNA is entirely within your control.

I hope that a research project (or projects) that I participate in eradicates a disease or diseases so that my descendants will only read about the disease in history books and will hopefully know that their ancestor played a small role in disease extermination.

In the mean time, I’m very actively participating in exome testing to attempt to track and identify a fatal family mutation that has plagued one family for at least 4 generations.  Of course, we don’t yet know how successful we will be.  However, exome testing, especially at this price, holds promise that was never available before. I hope that what today is literally a life and death experiment will one day be a standard testing routine available to any family with this type of issue.  I’ll let you know the outcome in a few months.

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