Genomics Law Report Discusses Designing Children

Posted on November 13, 2013 by Roberta Estes

I’m sure most of my readers are familiar with the upheaval caused by 23andMe’s patent dubbed “Designer Babies” earlier this fall. Opinions on this were highly divergent with some folks feeling like it couldn’t really be done, so nothing to reasonably worry about, some who couldn’t wait and others who were appalled for various reasons. Today, Genomics Law Report (GLR) published what I feel is a very balanced article about the patent, the technology, the fallout and the future in an article titled “Designing Children.”

“With this post the GLR introduces a new Contributing Writer, Jonathan Webber. Jonathan is a web editor at Robinson, Bradshaw & Hinson, the law firm that sponsors the GLR. His duties include copy-editing the GLR. That exposure, together with his background in anthropology—he came to RBH with a degree in anthropology and experience as both a field archaeologist and cultural educator for a state park system—has sparked his interest in some of the cultural and ethical issues that genomics raises. In this first post he brings his perspective to bear on the implications of 23andMe’s “designer babies” patent, and we look forward to more of his insight in the future.”

The aspect in this article that surprised me the most was the “ethical parenting” commentary about New York City. I truthfully, had no idea that parents were “training” their children for pre-school entrance exams and more, nor that they were medicating them for the purpose.

As a parent myself, I know that any parent would avail themselves of any technology that would prevent or avert genetic diseases in their children. But what about selecting for high intelligence? That’s understandable too, whether one agrees with it or not, and 13% of parents in a survey said they would select for that, if they could. But what about athletic prowess? Ten percent of the parents said they would select for athletic prowess. Is this now into the frivolous? Or what about a selecting for a blonde haired, blue eyed, slim daughter that the parents are hoping will be a beauty queen or a cheerleader? And of course, we haven’t even touched on the dark side of this in terms of parental motivation. All parents are not good parents nor do they all have their children’s best interests at heart.

Lots of questions and few answers about ethics, social responsibility and what the future holds. I hope you enjoy the article.

______________________________________________________________

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 Services

Genealogy Research

Legacy Tree Genealogists for genealogy research

2013 Family Tree DNA Conference Day 1

Posted on November 11, 2013 by Roberta Estes

This article is probably less polished than my normal articles. I’d like to get this information out and to you sooner rather than later, and I’m still on the road the rest of this week with little time to write. So you’re getting a spruced up version of my notes. There are some articles here I’d like to write about more indepth later, after I’m back at home and have recovered a bit.

Max Blankfield and Bennett Greenspan, founders, opened the conference on the first day as they always do. Max began with a bit of a story.

13 years ago Bennett started on a quest….

Indeed he did, and later, Bennett will be relating his own story of that journey.

Someone mentioned to Max that this must be a tough time in this industry. Max thought about this and said, really, not. Competition validates what you are doing.

For competition it’s just a business opportunity – it was not and is not approached with the passion and commitment that Family Tree DNA has and has always had.

He said this has been their best year ever and great things in the pipeline.

One of the big moves is that Arpeggi merged into Family Tree DNA.

10^th Anniversary Pioneer Awards

Quite unexpectedly, Max noted and thanked the early adopters and pioneers, some of which who are gone now but remain with us in spirit.

Max and Bennett recognized the administrators who have been with Family Tree DNA for more than 10 years. The list included about 20 or so early adopters. They provided plaques for us and many of us took a photo with Max as the plaques were handed out.

I am always impressed by the personal humility and gratitude of Max and Bennett, both, to their administrators. A good part of their success is attributed, I’m sure, to their personal commitment not only to this industry, but to the individual people involved. When Max noted the admins who were leaders and are no longer with us, he could barely speak. There were a lot of teary eyes in the room, because they were friends to all of us and we all have good memories.

Thank you, Max and Bennett.

The second day, we took a group photo of all of the recipients along with Max and Bennett.

With that, it was Bennett’s turn for a few remarks.

Bennett says that having their own lab provides a wonderful environment and allows them to benchmark and respond to an ever changing business environment.

Today, they are a College of American Pathologists certified lab and tomorrow, we will find out more about what is coming. Tomorrow, David Mittleman will speak about next generation sequencing.

The handout booklet includes the information that Family Tree DNA now includes over 656,898 records in more than 8,700 group projects. These projects are all managed by volunteer administrators, which in and of itself, is a rather daunting number and amount of volunteer crowd-sourcing.

Session 1 – Amy McGuire, PhD, JD – Am I My Brother’s Keeper?

Dr. McGuire went to college for a very long time. Her list of degrees would take a page or so. She is the Director of the Center for Medical Ethics and Health Policy at Baylor College of Medicine.

Thirteen years ago, Amy’s husband was sitting next to Bennett’s wife on an airplane and she gave him a business card. Then two months ago, Amy wound up sitting next to Max on another airplane. It’s a very small world.

I will tell you that Amy said that her job is asking the difficult questions, not providing the answers. You’ll see from what follows that she is quite good at that.

How is genetic genealogy different from clinical genetics in terms of ethics and privacy? How responsible are we to other family members who share our DNA?

What obligations do we have to relatives in all areas of genetics – both clinical, direct to consumer that related to medical information and then for genetic genealogy.

She referenced the article below, which I blogged about here. There was unfortunately, a lot of fallout in the media.

Identifying Personal Genomes by Surname Inference – Science magazine in January 2013. I blogged about this at the time.

She spoke a bit about the history of this issue.

In 2004, a paper was published that stated that it took only 30 to 80 specifically selected SNPS to identify a person.

2008 – Can you identify an individual from pooled or aggregated or DNA? This is relevant to situations like 911 where the DNA of multiple individuals has been mixed together. Can you identify individuals from that brew?

2005 – 15 year old boy identifies his biological father who was a sperm donor. Is this a good thing or a bad thing? Some feel that it’s unethical and an invasion of the privacy of the father. But others feel that if the donor is concerned about that, they shouldn’t be selling their sperm.

Today, for children conceived from sperm donors, there are now websites available to identify half-siblings.

The movement today is towards making sure that people are informed that their anonymity may not be able to be preserved. DNA is the ultimate identifier.

Genetic Privacy – individual perspectives vary widely. Some individuals are quite concerned and some are not the least bit concerned.

Some of the concern is based in the eugenics movement stemming from the forced sterilization (against their will) of more than 60,000 Americans beginning in 1907. These people were considered to be of no value or injurious to the general population – meaning those institutionalized for mental illness or in prison.

1927 – Buck vs Bell – The Supreme court upheld forced sterilization of a woman who was the third generation institutionalized female for retardation. “Three generations of imbeciles is enough.” I must say, the question this leaves me with is how institutionalized retarded women got pregnant in what was supposed to be a “protected” environment.

Hitler, of course, followed and we all know about the Holocaust.

I will also note here that in my experience, concern is not rooted in Eugenics, but she deals more with medical testing and I deal with genetic genealogy.

The issues of privacy and informed consent have become more important because the technology has improved dramatically and the prices have fallen exponentially.

In 2012, the Nonopore OSB Sequencer was introduced that can sequence an entire genome for about $1000.

Originally, DNA data was provided in open access data bases and was anonymized by removing names. The data base from which the 2013 individuals were identified removed names, but included other identifying information including ages and where the individuals lived. Therefore, using Y-STRs, you could identify these families just like an adoptee utilizes data bases like Y-Search to find their biological father.

Today, research data bases have moved to controlled access, meaning other researchers must apply to have access so that their motivations and purposes can be evaluated.

In a recent medical study, a group of people in a research study were informed and educated about the utility of public data bases and why they are needed versus the tradeoffs, and then they were given a release form providing various options. 53% wanted their info in public domain, 33 in restricted access data bases and 13% wanted no data release. She notes that these were highly motivated people enrolled in a clinical study. Other groups such as Native Americans are much more skeptical.

People who did not release their data were concerned with uncertainly of what might occur in the future.

People want to be respected as a research participant. Most people said they would participate if they were simply asked. So often it’s less about the data and more about how they are treated.

I would concur with Dr. McGuire on this. I know several people who refused to participate in a research study because their results would not be returned to them personally. All they wanted was information and to be treated respectfully.

What the new genetic privacy issues are really all about is whether or not you are releasing data not just about yourself, but about your family as well. What rights or issues do the other family members have relative to your DNA?

Jim Watson, one of the discoverers of DNA, wanted to release his data publicly…except for his inherited Alzheimer’s status. It was redacted, but, you can infer the “answer” from surrounding (flanking regions) DNA. He has two children. How does this affect his children? Should his children sign a consent and release before their father’s genome is published, since part of it is their sequence as well? The academic community was concerned and did not publish this information. Jim Watson published his own.

There is no concrete policy about this within the academic community.

Dr McGuire then referenced the book, “The Immortal Life of Henrietta Lacks”. Henrietta Lacks was a poor African-American woman with ovarian cancer. At that time, in the 1950s, her cancer was considered “waste” and no release was needed as waste could be utilized for research. She was never informed or released anything, but then they were following the protocols of the time. From her cell line, the HeLa cell line, the first immortal cell line was created which ultimately generated a great deal of revenue for research institutes. The family however, remained impoverished. The genome was eventually fully sequenced and published. Henrietta Lacks granddaughter said that this was private family information and should never have been published without permission, even though all of the institutions followed all of the protocols in place.

So, aside from the original ethics issues stemming from the 1950s – who is relevant family? And how does or should this affect policy?

How does this affect genetic genealogy? Should the rules be different for genetic genealogy, assuming there are (will be) standard policies in place for medical genetics? Should you have to talk to family members before anyone DNA tests? Is genetic information different than other types of information?

Should biological relatives be consulted before someone participates in a medical research study as opposed to genetic genealogy? How about when the original tester dies? Who has what rights and interests? What about the unborn? What about when people need DNA sequencing due to cancer or another immediate and severe health condition which have hereditary components. Whose rights trump whose?

Today, the data protections are primarily via data base access restrictions.

Dr. Mcguire feels the way to protect people is through laws like GINA (Genomic Information Nondiscrimination Act) which protects people from discrimination, but does not reach to all industries like life insurance.

Is this different than people posting photos of family members or other private information without permission on public sites?

While much of Dr. McGuire’s focus in on medical testing and ethics, the topic surely is applicable to genetic genealogy as well and will eventually spill over. However, I shudder to think that someone would have to get permission from their relatives before they can have a Y-line DNA test. Yes, there is information that becomes available from these tests, including haplogroup information which has the potential to make people uncomfortable if they expected a different ethnicity than what they receive or an undocumented adoption is involved. However, doesn’t the DNA carrier have the right to know, and does their right to know what is in their body override the concerns about relatives who should (but might not) share the same haplogroup and paternal line information?

And as one person submitted as a question at the end of the session, isn’t that cat already out of the bag?

Session 2 – Dr. Miguel Vilar – Geno 2.0 Update and 2014 Tree

Dr. Vilar is the Science manager for the National Geographic’s Genographic Project.

“The greatest book written is inside of us.”

Miguel is a molecular anthropologist and science writer at the University of Pennsylvania. He has a special interest in Puerto Rico which has 60% Native mitochondrial DNA – the highest percentage of Native American DNA of any Caribbean Island.

The Genographic project has 3 parts, the indigenous population testing, the Legacy project which provides grants back to the indigenous community and the public participation portion which is the part where we purchase kits and test.

Below, Dr. Vilars discussed the Legacy portion of the project.

The indigenous population aspect focuses both on modern indigenous and ancient DNA as well. This information, cumulatively, is used to reconstruct human population migratory routes.

These include 72,000 samples collected 2005-2012 in 12 research centers on 6 continents. Many of these are working with indigenous samples, including Africa and Australia.

42 academic manuscripts and >80 conference presentations have come forth from the project. More are in the pipeline.

Most recently, a Science paper was published about the spread of mtDNA throughout Europe across the past 5000 years. More than 360 ancient samples were collected across several different time periods. There seems to be a divide in the record about 7000 years ago when several disappear and some of the more well known haplogroups today appear on the scene.

Nat Geo has funded 7 new scientific grants since the Geno 2.0 portion began for autosomal including locations in Australia, Puerto Rico and others.

Public participants – Geno 1.0 went over 500,000 participants, Geno 2.0 has over 80,000 participants to date.

Dr. Vilar mentioned that between 2008 and today, the Y tree has grown exponentially. That’s for sure. “We are reshaping the tree in an enormous way.” What was once believed to very homogenous, but in reality, as it drills down to the tips, it’s very heterogenous – a great deal of diversity.

As anyone who works with this information on a daily basis knows, that is probably the understatement of the year. The Geno 2.0 project, the Walk the Y along with various other private labs are discovering new SNPs more rapidly than they can be placed on the Y tree. Unfortunately, this has led to multiple trees, none of which are either “official” or “up to date.” This isn’t meant as a criticism, but more a testimony of just how fast this part of the field is emerging. I’m hopeful that we will see a tree in 2014, even if it is an interim tree. In fact, Dr. Vilars referred to the 2014 tree.

Next week, the Nat Geo team goes to Ireland and will be looking for the first migrants and settlers in Ireland – both for Y DNA and mitochondrial DNA. Dr. Vilars says “something happened” about 4000 years ago that changed the frequency of the various haplogroups found in the population. This “something” is not well understood today but he feels it may be a cultural movement of some sort and is still being studied.

Nat Geo is also focused on haplogroup Q in regions from the Arctic to South America. Q-M3 has also been found in the Caribbean for the first time, marking a migration up the chain of islands from Mexico and South America within the past 5,000 years. Papers are coming within the next year about this.

They anticipate that interest will double within the next year. They expect that based on recent discoveries, the 2015 Y tree will be much larger yet. Dr. Michael Hammer will speak tomorrow on the Y tree.

Nat Geo will introduce a “new chip by next year.” The new Ireland data should be available on the National Geographic website within a couple of weeks.

They are also in the process up updating the website with new heat maps and stories.

Session 3 – Matt Dexter – Autosomal Analyses

Matt is a surname administrator, an adoptee and has a BS in Computer Science. Matt is a relatively new admin, as these things go, beginning his adoptive search in 2008.

Matt found out as a child that he was adopted through a family arrangement. He contacted his birth mother as an adult. She told him who his father was who subsequently took a paternity test which disclosed that the man believed to be his biological father, was not. Unfortunately, his ‘father’ had been very excited to be contacted by Matt, and then, of course, was very disappointed to discover that Matt was not his biological child.

Matt asked his mother about this, and she indicated that yes, “there was another guy, but I told him that the other guy was your father.’ With that, Matt began the search for his biological father.

In order to narrow the candidates, his mother agreed to test, so by process of elimination, Matt now knows which side of his family his autosomal results are from.

Matt covers how autosomal DNA works.

This search has led Matt to an interest in how DNA is passed in general, and specifically from grandparents to grandchildren.

One advantage he has is that he has five children whose DNA he can then compare to his wife and three of their grandparents, inferring of course, the 4^th grandparent by process of elimination. While his children’s DNA doesn’t help him identify his father, it did give him a lot of data to work with to learn about how to use and interpret autosomal DNA. Here, Matt is discussing his children’s inheritance.

Session 4 – Jeffrey Mark Paul – Differences in Autosomal DNA Characteristics between Jewish and Non-Jewish Populations and Implications for the Family Finder Test

Dr.Jeffrey Paul, who has a doctorate in Public Health from John Hopkins, noticed that his and his wife’s Family Finder results were quite different, and he wanted to know why. Why did he, Jewish, have so many more?

There are 84 participants in the Jewish project that he used for the autosomal comparison.

What factors make Ashkenazi Jews endogamous. The Ashkenazi represent 80%of world’sJewish population.

Arranged marriages based on family backgrounds. Rabbinical lineages are highly esteemed and they became very inbred with cousins marrying cousins for generations.

Cultural and legal restrictions restrict Jewish movements and who they could marry.

Overprediction, meaning people being listed as being cousins more closely than they are, is one of the problems resulting from the endogamous population issue. Some labs “correct” for this issue, but the actual accuracy of the correction is unknown.

Jeffrey compared his FTDNA Family Finder test with the expected results for known relatives and he finds the results linear – meaning that the results line up with the expected match percentages for unrelated relatives. This means that FTDNA’s Jewish “correction” seems to be working quite well. Of course, they do have a great family group with which to calibrate their product. Bennett’s family is Jewish.

Jeffrey has downloaded the results of group participants into MSAccess and generates queries to test the hypothesis that Jewish participants have more matches than a non-Jewish control group.

The Jewish group had approximately a total of 7% total non-Ashkenazi Jewish in their Population Finder results, meaning European and Middle Eastern Jewish. The non-Jewish group had almost exactly the opposite results.

Jewish people have from 1500-2100 matches.
Interfaith 700-1100 (Jewish and non)
NonJewish 60-616

Jewish people match almost 33% of the other Jewish people in the project. Jewish people match both Jewish and Interfaith families. NonJewish families match NonJewish and interfaith matches.

Jeffrey mentioned that many people have Jewish ancestry that they are unaware of.

This session was quite interesting. This study while conducted on the Jewish population, still applies to other endogamous populations that are heavily intermarried. One of the differences between Jewish populations and other groups, such as Amish, Brethren, Mennonite and Native American groups is that there are many Jewish populations that are still unmixed, where most of these other groups are currently intermixed, although of course there are some exceptions. Furthermore, the Jewish community has been endogamous longer than some of the other groups. Between both of those factors, length of endogamy and current mixture level, the Jewish population is probably much more highly admixed than any other group that could be readily studied.

Due to this constant redistribution of Jewish DNA within the same population, many Jewish people have a very high percentage of distant cousin relationships.

For non-Jewish people, if you are finding match number is the endogamous range, and a very high number of distant cousins, proportionally, you might want to consider the possibility that some of your ancestors descend from an endogamous population.

Unfortunately, the photo of Dr. Paul was unuseable. I knew I should have taken my “real camera.”

Session 5 – Finding Your Indian Prince(ss) Without Having to Kiss Too Many Frogs

This was my session, and I’ll write about it later.

Someone did get a photo, which I’ve lifted from Jennifer Zinck’s great blog (thank you Jennifer), Ancestor Central. In fact, you can see her writeup for Day 1 here and she is probably writing Day 2’s article as I type this, so watch for it too.

Session 6 – Roundtable – Y-SNPs, hosted by Roberta Estes, Rebekah Canada and Marie Rundquist

At the end of the day, after the breakout sessions, roundtable discussions were held. There were several topics. Rebekah Canada, Marie Rundquist and I together “hostessed” the Y DNA and SNP discussion group, which was quite well attended. We had a wide range of expertise in the group and answered many questions. One really good aspect of these types of arrangements is that they are really set up for the participants to interact as well. In our group, for example, we got the question about what is a public versus a private SNP, and Terry Barton who was attending the session answered the question by telling about his “private” Barton SNPs which are no longer considered private because they have now been found in three other surname individuals/groups. This means they are listed on the “tree.” So sometimes public and private can simply be a matter of timing and discovery.

Here’s Bennett leading another roundtable discussion.

Session 7 – Dr. David Mittleman

Dr. Mittleman has a PhD in genetics, is a professor as well as an entrepreneur. He was one of the partners in Arpeggi and came along to Gene by Gene with the acquisition. He seems to be the perfect mixture of techie geek, scientist and businessman.

He began his session by talking a bit about the history of DNA sequencing, next generation sequencing and a discussion about the expectation of privacy and how that has changed in the past few years with Google which was launched in 2006 and Facebook in 2010.

David also discussed how the prices have dropped exponentially in the past few years based on the increase in the sophistication of technology. Today, Y SNPs individually cost $39 to test, but for $199 at Nat Geo you can test 12,000 Y SNPs.

The WTY test, now discontinued tsted about 300,000 SNPs on the Y. It cost between $950 (if you were willing to make your results public) and $1500 (if the results were private,)

Today, the Y chromosome can be sequenced on the Illumina chip which is the same chip that Nat Geo used and that the autosomal testing uses as well. Family Tree DNA announced their new Big Y product that will sequence 10 million positions and 25,000 known SNPs for an introductory sale price of $495 for existing customers. This is not a test that a new customer would ever order. The test will normally cost $695.

Candid Shots

Tech row in the back of the room – Elliott Greenspan at left seated at the table.

ISOGG Reception

The ISOGG reception is one of my favorite parts of the conference because everyone comes together, can sit in groups and chat, and the “arrival” adrenaline has worn off a bit. We tend to strategize, share success stories, help each other with sticky problems and otherwise have a great time. We all bring food or drink and sometimes pitch in to rent the room. We also spill out into the hallways where our impromptu “meetings” generally happen. And we do terribly, terribly geeky things like passing our iPhones around with our chromosome painting for everyone to see. Do we know how to party or what???

Here’s Linda Magellan working hard during the reception. I think she’s ordering the Big Y actually. We had several orders placed by admins during the conference.

We stayed up way too late visiting and the ISOGG meeting starts at 8 AM tomorrow!

______________________________________________________________

Disclosure

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

Legacy Tree Genealogists for genealogy research

23andMe Patents Technology for Designer Babies

Posted on October 5, 2013 by Roberta Estes

I try very hard to stay away from politics, religion and ethical discussions. My Hoosier farmer Dad used to say opinions about those topics are like a certain body part, everyone has one and they all stink.

Today, however, I’m going to violate my own rule because willingly or not, by own DNA has been drug into this arena – without my direct knowledge – and so has yours if you have tested with 23andMe.

23andMe has patented the technology for making designer babies, but has stated that they don’t intend to use it. If you’re scratching your head about now, so was I.

This Fox News article explains about 23andMe’s patent application and recent approval.

They also report that 23andMe claims they have no plan to implement this system, confirmed by a quote from 23andMe. If you’re thinking that makes no sense at all, you’re not alone. Kind of reminds me of an alcoholic purchasing alcohol but claiming they have no intention of drinking it, a pedophile purchasing kiddie porn and claiming they have no intention of viewing it, a burglar caught with burglary tools and claiming they aren’t going to use them or maybe in a less sinister vein, a cat chasing a mouse and claiming they have no intention of catching it. Yeah, right.

An article in Genetics in Medicine elaborates further. This article explains how the designer baby process takes place.

“Taken out of “patentese,” what 23andMe is claiming is a method by which prospective donors of ova and/or sperm may be selected so as to increase the likelihood of producing a human baby with characteristics desired by the prospective parents, the selection being based on a computerized comparison of the genotypic data of the egg provider with that of the sperm provider.”

Clearly, very few people would have an issue with this technology if it were utilized to only deselect mixtures which would produce children with serious genetic diseases for at-risk couples. However, utilizing this technique to produce designer children based on the whim of their parents could be another matter altogether, and to many people, crosses the murky line of what is and is not appropriate or acceptable, for whatever reason. It’s not my intention here to debate the ethics of this technology or technique. I can’t help but think, however, of the Chinese today who have a “one child policy,” only allowing one child per family which has led to sex selection in an attempt for families to assure that one child is a male. Worse yet, I’m reminded of Hitler’s horrific genocide, the Holocaust, based on, in part, physical traits.

What does 23andMe themselves have to say about this? On their May 28^th 2012 blog, they announced their Parkinson’s patent. In that announcement they stated that they “have a research arm with more than 20 scientists dedicated to making meaningful discoveries that will improve the lives of all of us.”

On October 1, 2013, their blog announced their second patent, the “designer baby” patent and states the following:

“Last week, 23andMe was awarded a patent for which we applied more than five years ago, and which relates to one of the tools we offer individuals as part of their genetic exploration. The tool — Family Traits Inheritance Calculator — offers an engaging way for you and your partner to see what kind of traits your child might inherit from you. The Family Trait Inheritance Calculator has also been part of our service since 2009 and is used by our customers as a fun way to look at such things as what eye color their child might have or if their child will be able to perceive bitter taste or be lactose intolerant. The tool offers people an enjoyable way to dip their toes into genetics.”

Here’s a look at 23andMe’s Family Inheritance Calculator. The categories reported are bitter taste perception, lactose intolerance, earwax, eye color, muscle performance and alcohol flush reaction. Certainly, this looks innocuous enough.

Utilizing a screen shot from two family members, the first column displays the child’s genes, the second, one parent’s, and the final column predicts the resulting outcome of that trait in the child. In this case, the child has brown eyes, wet earwax, doesn’t run and has no alcohol flush reaction.

So if you’ve been dangling your toes in the water and thought you were just having fun, well, there might be something much more sinister under the water, depending on your perspective and your toes, well, they might just be bait.

The final paragraph in the Genetics in Medicine article sums this situation up quite well.

“What makes this case even more surprising is the fact that 23andMe is no stranger to controversy regarding its patenting activities. In the days following its May 2012 announcement on the company blog that it was to be granted a US patent for a test for propensity to develop Parkinson disease, the blog was filled with reactions of upset customers, the providers of the genetic and phenotypic data which constitutes 23andMe’s biobank. Since 23andMe is a commercial entity, clearly intended to bring profit to its investors at some stage at least, its attempts to seek patents are not surprising. Moreover, such attempts are not inherently problematic. However, for a company that invites audience participation, and so needs customers and their goodwill to maintain and expand its most valuable asset, i.e., its biobank, it is surprising that, following the uproar that greeted the announcement of its Parkinson disease patent, 23andMe has pursued this patent with no apparent public discussion. For instance, do the consumers who have also allowed 23andMe to use their genotypic data for the research conducted by the company agree with the use of their information for the purpose of developing a method for gamete donor selection? Public trust is central to the continuing success of human genetics research in general and biobank-based research in particular. We urge maximal transparency by all engaged in human genetics research.”

Customers are the Biobank

Herein lies the problem. I’m one of those consumers and I had no idea whatsoever that this research was underway. That makes it clandestine at worst and certainly not transparent at best. My DNA, along with all of their other clients who constitute their “biobank” was used for this research which has now been patented in the form of “designer baby” technology. I’m not going to say publicly whether I’m in favor of or opposed to designer babies, per se, but I’m going to say that I’m extremely uncomfortable discovering that this is what was being done with my DNA. I’m not happy – really not happy.

When I purchased my DNA test at 23andMe, it was for genealogy, although I have clearly benefitted from the health traits aspects too. I have been a willing participant in several surveys, including the ones about Parkinsons. My mother had Parkinsons, at least we think she did, as Parkinsons is a diagnosis by excluding other possible diseases. In other words, there is no test for Parkinson’s disease itself. My thoughts of course when I’ve taken these surveys about diseases, traits and such is that the research would be utilized in identifying genetic sources and then perhaps treatments or drugs to cure those diseases. I fully expected the treatments to be patented, but I did not expect the genetic aspects, or the genes themselves, to be patented.

In all fairness, I did give consent and I knew that their primary focus is and was medical research. However, I didn’t expect they would utilize my DNA for this. I trusted and had confidence in them. Now I don’t.

Consenting for What?

Here’s a link to their consent form. The first paragraph says “23andMe aims to make and support scientific discoveries and publish those discoveries in scientific journals.” Hey, I’m good with that. In fact, I applaud it. A patent is not a scientific journal article.

Looking further, under item 5, under Benefits, it says, “23andMe may develop intellectual property, including but not limited to patents, copyrights and trademarks, and/or commercialize products or services, directly or indirectly, based on the results of this study, and in such cases you will not receive any compensation.” I don’t quite understand how that is a benefit to me, at least not directly. But it does say the word, patent. It’s just that, well, I expected the patents to be related to disease cures, like cancer and Parkinsons and things like that, not designer babies. Designer babies clearly have been a priority for them, and they have been working very quietly, too quietly, on this for a long time. The patent was applied for in 2008. Discussion about their Parkinsons research is all over their website, but not a peep about their designer baby research. Why is that?

Recently, the Supreme Court struck down a similar patent on the Breast Cancer Genes. This patent is different in that it doesn’t directly patent the genes themselves, but the gamete selection technique, as best I can tell.

Customer Options

What can I, as a consumer, do? I’m very uncomfortable now with 23andMe and their priorities. I feel that we as consumers, their customers, have been betrayed. I feel that they have compromised their own integrity by focusing on designer babies for the wealthy who want to select eye color instead of on disease cures for the masses, which is what I expected would be done with my DNA. I’m wondering what other things they are working on that I will find equally as objectionable.

This isn’t a debate about the ethics of designer babies, but a discussion about how my, and your, DNA is being utilized.

What can I do? I still want the genealogy matching services, but I no longer want to participate in their medical research. According to the consent form, customers do have an option to withdraw. Here is what that says:

“Your alternative is not to participate in the 23andWe research study…If you choose not to give consent for 23andWe research, your Genetic & Self-Reported Information may still be used for other purposes, as described in our Privacy Statement.

At any time, you may choose to withdraw all or some of your Genetic & Self-Reported Information from 23andWe research by changing your consent status within the 23andMe “Settings” page or by sending a request to the Human Protections Administrator at hpa@23andme.com. You will still be allowed full access to the Personal Genome Service®, but 23andMe will prevent the requested information from being used in new 23andWe research occurring after 30 days from receipt of your request. Any research on your data that has been performed or published prior to this date will not be reversed, undone, or withdrawn. Your Genetic & Self-Reported Information may still be used for other purposes as described in the 23andMe Privacy Statement.

Choosing not to give consent or withdrawing from 23andWe will not affect your access to your Genetic Information or to the Personal Genome Service®.

You may also discontinue participation by closing your Personal Genome Service® account, as described in the Terms of Service. Requests for account closure must be made in writing to 23andMe’s business address or via Customer Care.”

Hmm, it says that even if I withdraw, they can still use some information. I did as they suggested, and consulted the Privacy Statement. I’m not a lawyer, but this paragraph seems to suggest that regardless, they can use at least some of my information anyway.

They state: “If you do not give your consent to participate in 23andWe Research, 23andMe may still use your Genetic and Self-Reported Information for purposes such as quality control or other R&D activities. Genetic and Self-Reported Information used for such purposes may be included in Aggregated Genetic and Self-Reported Information disclosed to third-party research partners who will not publish the information in a peer-reviewed scientific journal. Research partners may include commercial or non-profit organizations that conduct or support scientific/medical research or conduct or support the development of drugs or devices to diagnose, predict, or treat health conditions.”

So, the net-net of this seems to be that my only recourse if I really don’t want my DNA utilized is to close my account entirely – and even then, I’m not at all sure that they don’t retain my information and utilize it. Maybe Judy Russell or Blaine Bettinger could provide a better legal review.

What I’m Doing

Let me tell you what I am going to do.

1. I’m going to change my settings to prevent my DNA from being utilized in further research, and I’m not going to answer any more surveys until I feel much better about what 23andMe is doing, if ever. In fact, I was going to show you how to do this too, if you’re interested. However, after logging into 23andMe, the “settings” page is not in evidence since their last page reorganization, nor can it be found by searching, and neither is the “gear” that used to be the gateway to settings, so I will be e-mailing their Human Projects Administrator at hpa@23andMe.com. This settings page required to withdraw should be obvious.

Edit – Update – The Settings Option is a dropdown from your name after you sign into 23andMe. Then click on Privacy/Consent.

2. Furthermore, I will no longer be recommending that people test at 23andMe without a very strong caveat and a link to this posting.

3. I’ve removed their link from my blog sidebar. Poof – gone.

What Do You Think?

I invite your input? What do you think? How do you feel? What are you going to do?

______________________________________________________________

Disclosure

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

Legacy Tree Genealogists for genealogy research

No (DNA) Bullying

Posted on May 15, 2013 by Roberta Estes

There are hardly any hobbies that hold more passion than genealogy. Once hooked by the bug, most people never retire and one of the things they worry about passing down to their family are their genealogy records – even if the family of today isn’t terribly interested.

So it’s easy to understand the degree of passion and enthusiasm, but sometimes this passion can kind of go astray and it crosses the line from something positive to something not nearly so nice.

Genetic genealogy is the latest tool in the genealogists’ arsenal, but it introduces some new challenges and unfortunately, with the increased number of people testing, we’re seeing some examples of what I consider bullying – for DNA, for identification and for information.

Bullying is unwelcome aggressive behavior that involves repeated threats, physical or electronic contact or a real or perceived imbalance of power. Generally, the victim feels they can’t make it stop. This has become especially prevalent in the cyber age. And bullying is not just about kids.

I’m going to look at 3 types of situations. It’s easy to see both perspectives, but bullying by any other name is still bullying, even though the bully probably doesn’t see it that way. Guaranteed, the recipient does.

You’ve Got the DNA I Need

Let’s say that Aunt Gladys is the last person alive in a particular line who can provide DNA to represent that line. But Aunt Gladys, for whatever reason, doesn’t want to test. It’s fine to discuss this, to talk about her concerns, and perhaps you can find a solution to address them, like testing anonymously.

But let’s say that Aunt Gladys simply says “no,” end of story. What then?

Yes, Aunt Gladys carries the information that you need, but it’s HER DNA that needs to be tested, and if she says no, then her decision should be respected, as difficult as it may be and as unreasonable as it may seem. Maybe Aunt Gladys knows something you don’t – like she is adopted or some other secret that she does not wish to reveal. Badgering Aunt Gladys from this point forward is going to do nothing other than cause hard feelings and make Aunt Gladys want to avoid you.

You may think you’re “just discussing” but from her perspective, you may be bullying. Now, it’s OK to beg and cry once, but if you’re slipped into the realm of “if you don’t test, I’ll tell Uncle Harvey that you scratched his car back in 1953,” you’ve stepped over that line.

Won’t Answer E-Mails

I can’t tell you how often I hear this story. “I match with person XYZ and they won’t share their information.” Most of the time, they won’t answer e-mails. And the question follows, of course, as to why they tested in the first place.

These tests have been around for a number of years now. Many people have died or moved or the purpose of the test was fulfilled and they aren’t interested beyond that. Think of your Aunt Gladys. If you did convince her to test, it wouldn’t be for her, but for you and she certainly would not be interested in answering random e-mails.

There could be a number of reasons, depending on the testing company used, that someone might not answer. In particular, many people test at 23andMe for health reasons. It doesn’t matter to them if you’re a first cousin or any other relation, they simply aren’t interested or don’t have the answers for you.

It’s alright to send 2 or 3 e-mails to someone. E-mails do get lost sometimes. But beyond that, you’ve put yourself into the nuisance category. But you can be even worse than a nuisance.

I know of one case where someone googled the e-mail of their contact, discovered the person was a doctor, and called them at the office. That is over the line into cyber-stalking. If they wanted to answer the e-mail, they would have. If they don’t want to, their decision needs to be respected.

I Know You Know

This situation can get even uglier. I’ve heard of two or three situations recently. One was at Ancestry where someone had a DNA match and their trees matched as well. At first the contact was cordial, but then it deteriorated into one person insisting that the other person had information they weren’t divulging and from there it deteriorated even further.

This is a hobby. It’s supposed to be fun. This is not 7th grade.

Adoptions

However, there are other situations much more volatile and potentially serious. In some cases, often in adoptions, people don’t want contact. Sometimes it’s the parent and sometimes it’s the adoptee. But those aren’t the only people involved. There are sometimes half-siblings that are found or cousins.

For the adoptees and the parents, there are laws in each state that govern the release of their legal paperwork to protect both parties. Either party can opt out at any time.

But for inadvertently discovered family connections, this isn’t true. Think of the person who doesn’t know they are adopted, for example, who discovers a half-sibling and through that half sibling their biological mother. Neither person may welcome or be prepared for this discovery or contact.

Imagine this at the dinner table with the family gathered, “Hey guess what, I got a half-sibling match today on my DNA. I wonder if that’s some kind of mistake. How could that be?”

So if you match someone as a half sibling or a cousin, and they don’t want to continue the conversation, be kind and respectful, and leave the door open to them if they change their mind in the future. Pushing them can only be hurtful and nonproductive.

Dirty Old (and Formerly Young) Men

And then, there’s the case of the family pervert. Every family seems to have one. But it’s not always who you think it is. By the very nature of being a pervert, they hide their actions – and they can be very, very good at it. Practice makes perfect.

Let’s say that Jane likes genealogy, but she was molested as a child by Cousin Fred. Some of the family knows about this, and some don’t believe it. The family was split by this incident, but it was years in the past now. Jane wants nothing to do with Fred’s side of the family.

(By the way, if you think this doesn’t happen, it does. About 20% of woman have been raped, 30% of them by family members (incest), many more molested, and children often by relatives or close family friends. 15% of sexual assault victims are under the age of 12. Many childhood cases are never prosecuted because the children are too young to testify. Perverts and pedophiles don’t wear t-shirts announcing such or have a “P” tattooed on their forehead. Often family members find it hard to believe and don’t, regardless of the evidence, casting the victimized child in the position of being a liar and “troublemaker.” Need convincing? Think of what Ariel Castro’s family said and how well he hid his dark side and the Boston bombers’ family comments about their innocence in the face of overwhelming evidence to the contrary.)

Jane’s an adult now and DNA tests. She has a match and discovers that it’s on Fred’s side of the family. Jane tells the person that she doesn’t want anything to do with that side of the family, has no genealogy information and wants no contact. The match doesn’t believe Jane and then becomes insistent, then demanding, then accusatory, then threatening.

This is clearly over the line. Jane said she didn’t want any continued contact. That should have been the end of the discussion.

But let’s say this one gets worse. Let’s say that because of this, Cousin Fred wakes up and decides that Jane is interesting again and begins to stalk Jane, and her children……

Does this make you shake in your shoes? It should. Criminals not only aren’t always playing with a full deck, but don’t play by any of the same rules as the rest of us. Cousin Fred might just be very grateful for that information about Jane and view it as a wonderful “opportunity,” provided by his “supportive” family member who has now endangered both Jane and her children.

Who’s Yer Daddy?

In another recent situation, John discovered by DNA testing that he is not the biological child of his father. He subsequently discovered that his mother was raped by another male, married to another close family member. When John discovered that information, he promptly lost interest in genealogy altogether.

A year or so later, John matched someone closely who was insistent that he provide them with how he was related to them. John knew, but he did not feel that it was any of their business and he certainly did not want to explain any of the situation to the perpetrator’s family member, who, by the way, had already mentioned what a good person the perpetrator was. However, the person continued to harass and badger John until he changed his e-mail address.

I so wanted to ask these people, “What part of “NO” don’t you understand?”

Mama’s Baby, Daddy’s Maybe

In one final example, adoptees often make contact with their birth mother first, and then, if at all, with their birth father. Sometimes the birth mothers are not cooperative with the (now adult) child about the identity of their father. Often, this is horribly frustrating to the adoptee. In at least one case, I know of a birth mother who would never tell, leaving the child an envelope when she died. The child was just sure the father’s name was in the envelope, but it was not. I can only imagine that level of disappointment.

Why would someone be so reticent to divulge this information? The primary reasons seem to be that either the mother doesn’t know due to a variety of circumstances that can range from intoxication to rape, the woman never told the father that she had a baby and placed the child for adoption, the father was abusive and the mother was/is afraid of him/his family, the father was married, or the father was a relative, which means not only might the father still be alive, the mother may still have a relationship of some type with him. The mother may have lied for years to protect herself, and in doing so, protected the father as well.

Clearly, this situation has a lot of potential to “shift” a lot of lives and not always in positive ways. One woman didn’t want to make contact with her child other than one time because she had never told her husband of 30 years that she had a child before their marriage. One woman made contact, but did not want to divulge that the child’s father was her older brother, still alive. Victims often keep the secrets of their attackers out of misplaced shame and guilt. Think Oprah here. Mother may not be simply being stubborn, but acting like the victim she is and trying to preserve whatever shreds of dignity are left to her. She may also be embarrassed by a lapse in judgment. One adoptee realized when counting forward from her birth date that she was conceived right at New Years and when she realized that, she figured out that her mother, who drank heavily when she was younger, probably did not know who her father was, and didn’t want to admit that.

As frustrating as this is for the adoptee, the birth mother does have the right not to have her life turned upside down. Badgering her will only result in losing the potential for a relationship from the current time forward. Being respectful, understanding and gentle may open the door for future information.

R-E-S-P-E-C-T

I can hear Aretha now.

If you haven’t walked a mile in their moccasins, so to speak, you can’t possibly know the situation of the person on the other end of your request for DNA or information. Don’t make the mistake of stepping over the line from excitement into bully behavior.

Think of the potential situations the person on the other end may be dealing with. Ultimately, if they say no, then no it is and no should be enough without an explanation of why. Generally bullying doesn’t work anyway, because someone who feels like you are threatening them or being too aggressive will clam right up and it will be that proverbial cold day in Hades before they tell you anything. It’s important to keep communications from sounding like you’re demanding or entitled. My mother always said “you’ll catch more flies with honey than with vinegar.” I always found that very irritating, probably because I needed to hear it just then – but regardless – it’s true.

Keep in mind, genetic genealogy is about genealogy. It’s a hobby. It’s fun. If it becomes otherwise and puts people at jeopardy, then we need to take a step back and take a deep breath.

Most people don’t mean to cross the line into bullying. They just get excited and sometimes desperate. Hopefully this discussion will help us all be more aware of where the polite line is in communicating with our family members and matches.

If you are the victim of information bullying, cyber-stalking or someone puts you in an uncomfortable situation, there are steps you can take to remedy the situation. Most bullying sites are directed at adolescents, but the advice still applies.

If you know you don’t want contact initially, then make your accounts anonymous or don’t respond to requests. If you realize that you don’t want contact after the initial contact, for whatever reason, say so. After that, do not engage in communications with someone who is attempting to bully you. If they threaten you or threaten to reveal information or your identity if you don’t give them information or do something, that action falls into the blackmail realm, which a crime. Complying with a threat to protect yourself or your family generally only results in more of the same. You are not dealing with a nice person. At this point, you are way beyond genealogy and your own internal “danger” sign should be flashing bright neon red.

If disengaging does not take care of the problem, save all messages/contacts and contact your attorney who may advise you to contact the police or the FBI if the problem crosses state lines. Depending on what state you/they live in and exactly what they have done, you may have a variety of options if they won’t stop, especially if they do something that does in fact manage to turn your life upside down and/or a crime is involved, like blackmail. Of course, this is akin to closing the barn door after the cow leaves. Hopefully, the person causing the problem is simply an over-zealous genealogist, means you no harm, realizes what they have done or are doing, and will get a grip and compose themselves long before this point.

Bullying of course is not because of DNA or unique to genetic genealogy, but the new products introduce new social situations that we have not previously had tools to discover nor the opportunity to address in quite the same way.

______________________________________________________________

Disclosure

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

Legacy Tree Genealogists for genealogy research

Britains DNA – Caveat Emptor

Posted on December 20, 2012 by Roberta Estes

Recently, a client contacted me who had tested with both companies, Britains DNA and GeneBase, and couldn’t figure out what to make of his results or if the two even connected with each other.

When I saw what he sent me, I immediately understood why, and I felt very badly for him.

I often wonder how people make decisions regarding DNA testing and the companies they choose. In some cases, I know. For example, Ancestry has a lot of subscribers, so subscribers make up the majority of their customers. But that’s not always the case.

I hadn’t actually been able to see results from Britains DNA before, so this was a great opportunity, but I am sorely disappointed.

While I was in this evaluation process, the following article titled “Exaggerations and Errors in the Promotion of Genetic Ancestry Testing” was published which I found extremely concerning.

http://www.genomesunzipped.org/2012/12/exaggerations-and-errors-in-the-promotion-of-genetic-ancestry-testing.php

Let’s take a look at what you actually receive from Britains DNA.

For 170 pounds, which equates to about $266 US, in a 3 page boilerplate report, you learn the identity of 4 of your haplogroup SNPs. They tell you that “Your Fatherline is Berber” and “Your YDNA markers are M35+M81+,” and that’s it for customization, other than your name and one line on page three that says “These are the markers we tested which define your group: M96+ P29+ M35+ and M81+.” The rest of the three pages is entirely a boilerplate story. And what a “story” it is.

The first thing you see is a map, but not until the last paragraph of page 3 does it tell you that the map shows where “your group” is found today, but what is meant by “your group” is unclear. I’m presuming here that the map is either showing M35 or M81. For $266 dollars, the customer should not have to presume.

Part of the ensuing “story” is questionable. For example, describing the after-effects of the eruption of Mount Toba in 70,000 BC, “Only in east-central Africa, in the shelter of the great rift valleys, did tiny remnant bands of people survive where perhaps as few at 5000 outlived the sunless summers.”

What is stated here as fact is assuredly one of the theories, but it’s far from an established scientific fact and is highly controversial. There are no words here like “may have been” or “are believed by some” – just the recantation of a story using the tone one might use to tell a fanciful bedtime story to a believing child. Except these people are adults and paid a lot of money to receive a scientific explanation of their DNA results, not something that reads like a modern day fairy tale.

http://en.wikipedia.org/wiki/Toba_catastrophe_theory

Another example is their introduction of marker M81. “Men with your marker, with M81, made a dramatic entry into recorded history. Led by one of the greatest generals the world has seen, Berber cavalry fought in the Carthaginian army as it struggled with Rome in the 3^rd century BC for control of the Mediterranean.”

Really? That was their introduction?

Arredi et al in 2004 in the paper, “A Predominantly Neolithic Origin for Y-Chromosomal DNA Variation in North Africa” linked M81 with the spread of Neolithic food producing technologies. So if M81 existed in the Neolithic, which began about 10,000 years ago in the Middle East, it clearly wasn’t introduced in the 3^rd century BC with the unnamed Berber general, or the Carthaginians. Maybe the story of the Carthaginians was just a more interesting tale. The problem is that it’s misleading and inaccurate.

Reading this “story” from the perspective of one experienced with genetic genealogy, I feel like this was written for an audience they felt was unable to comprehend the “complicated truth.” Except, the truth isn’t all that complicated. People can understand it just fine, thank you, and I find that approach very insulting.

Near the end of the story, in the “marker” section, they say that “SNP is another word for marker” and that these markers are unique events in human history showing you where your ancestors were in the past and where your “group” is found today. There is no further explanation.

Personally, I found this entire 3 pages arrogantly condescending. Judging from that article, I’m not alone. Moreover, this high priced, low value, fanciful product worries me because I’m concerned that genetic genealogy will all be painted and tarred with the same brush once the consuming public catches on and the word gets out. You know, that bad apple thing. I hope that Britains DNA will either improve their product or exit the marketplace before they damage an already nervous European population relative to DNA testing. And what’s worse, this is Brits preying on other Brits when they will likely attempt to invoke a trust relationship with potential buyers. “Buy from us, we’re Brits and we’re local.” To put this in perspective, the cost of 4 SNP markers at Family Tree DNA, the only company who tests SNP markers boutique style, is $29 each, for a total of $116.

My client, not knowing quite what to make of all this, then tested at Genebase. For another $119, he obtained STR markers for 27 locations. He had no idea how to tie this together with the results from Britain’s DNA, or what to do with these markers. He wanted to know if the two tests supported each other, or if they were different, and what they told him. That’s when he found me.

I did best I could for him with what I had to work with by using Whit Athey’s haplogroup predictor, YSearch and the haplogroup project for E-M35. Thank you, Whit and Family Tree DNA for these tools.

In the end, what I finally told him, among other things, is that he needs to spend another $119 so that he can test at Family Tree DNA. I hated to do this, because with my fee added, this man has now paid over $400 US. Testing at Family Tree DNA would get him 37 markers, a personal page, a haplogroup and provide him the ability to join an Italian project, a surname project and a haplogroup project. He needs to be able to work with haplogroup project administrators to determine if he needs deep clade (or similar) SNP testing. He needs to be able to look at the haplogroup origins page, the ancestral origins page, and the matches map to see where his own people were both further back in time and more recently. He needs matches, and to be able to contact his matches to see if he can make connections and discern trends. He needs a community.

Never, until today, until I saw this man’s piecemeal results, fanciful boilerplate story and his desire to patch it all together, did I fully appreciate all that Family Tree DNA provides, in one place, integrated, through their products and webpages, and charitably, through the foundation they provide for their project administrators, Ysearch, Mitosearch and the support of other clients and volunteers who guide people through the discovery process.

A very, very big thank you to Bennett Greenspan and Max Blankfeld, founders of Family Tree DNA, and to all of those unnamed volunteers and project administrators who work together and separately to make all of this possible.

For my client, though, and others like him, I’m not quite sure what to say or how to prevent this in the future. I guess the words “buyer beware” also have to be applied to purchasing genetic genealogy products. As with any other items where consumers are drawn to purchase something, if there is money and demand, there will be scam artists and less than ethical people looking to take advantage of a naïve consuming public. For me, it’s personally painful when those people fall into the category of “scientists” because like doctors, that professional label alone engenders trust. This product certainly trembles on the line of betrayal of that trust. Some would say it crosses that line. Perhaps it is a fine line. The customer did discover his “fatherline” and receive a story, even if the story was more fluffy than scientific and the price exorbitant for what he received.

Caveat emptor!

______________________________________________________________

Disclosure

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

Legacy Tree Genealogists for genealogy research

Family Tree DNA Conference 2012 – Nits and Grits

Posted on November 13, 2012 by Roberta Estes

First things first! I want to thank Max and Bennett for graciously hosting the 8^th Annual Genetic Genealogy Conference in Houston, Texas! This is actually the 9^th year, but a pesky hurricane interfered one year. Max and Bennett are very generous with their time and resources and heavily subsidize this conference for us. We’re registering in the photo above.

Georgia Kinney Bopp said it best. At some point during this amazing conference, someone tweeted an earlier quote from a conversation between Ann Turner and Georgia:

“it’s hard to realize you’re living history while it happens…”

This was ever so true this weekend. Even my husband (who is not genetic genealogy crazy) realized this. I’m not sure everyone at the conference did, or realized the magnitude of what they were hearing, as we did have a lot of newbies. Newbies are a good thing. It means our obsessive hobby and this industry have staying power and there will be people to pass the torch to someday.

I’ve already covered the Native American focus meeting in an earlier blog.

For those of you who want the nitty gritty play by play as it happened at the conference, go to www.twitter.com and search for hashtag #ftdna2012. If you want some help with Twitter, I blogged about that too. Twitter is far from perfect, but it is near-realtime as things are happening.

As always, Family Tree DNA hosts a reception on Friday evening. This helps break the ice and allows people to put faces with names. So many of us “know” each other by our e-mail name and online presence alone.

We had a special guest this year too, Nina, a little puppy who was rescued by Rebekah Canada just a few days before the conference. Nina behaved amazingly well and many of us enjoyed her company.

Bennett opened the conference this year, and in the Clint Eastwood political tradition, spoke to his companion, the chair named Max. The real Max, it turns out, was losing his voice, but that didn’t prevent him from chatting with us and answering questions from time to time.

While Bennett was very low key with this announcement, it was monumental. He indicated that the parent company of Family Tree DNA has reorganized a bit. It has changed its name to Gene by Gene and now has 4 divisions. You can check this out at www.genebygene.com. This isn’t the monumental part.

The new division, DNADTC’s new products are the amazing parts. Through this new division, they are the first commercial company to offer a full genome sequence test. The price, only $5495. For somewhat less, $695, they are offering the exome, which are your 20,000 genes. Whoever though it would be a genetic genealogy company who would bring this to the public. Keep in mind that the human genome was only fully sequenced in 2003 at a cost of 3 billion dollars.

The amazing part is that a full genome sequence cost about 3 million in 2007 and the price will continue to fall. While consumers will be able to order this, if they want, it comes with no tools, as it is focused at the research community who would be expected to have their own analytical tools. However, genetic genealogists being who and what they are, I don’t expect the research market will outweigh the consumer market for long, especially when the price threshold reaches about $1000.

Bennett also said that he expects that National Geographic will, in 2013 sometime, decide to allow upgrades from Family Tree DNA clients for the Geno 2.0 product. This will allow those people who cannot obtain a new sample to participate as well. However, an unopened vial will be required. No promises as to when, and the decision is not his to make.

The first session was Spencer Wells via Skype from Italy. Spencer has just presented at two conferences within the week, one in San Francisco and one in Florence, Italy. Fortunately, he was able to work us into his schedule and he didn’t even sound tired.

Of course, his topic was the Geno 2.0 test which is, of course, run on the new GenoChip. The first results are in the final stages of testing, so we should see them shortly. Sometime between the 19^th and the end of the month.

This product comes with all new migration maps. He showed one briefly, and I noticed that one of the two Native Y-lines are now showing different routes than before. One across Siberia, which hasn’t changed, and one up the pacific rim. Hmmm, can’t wait for that paper.

The new maps all include heat maps which show frequency by color. The map below is a haplogroup Q heat map, but it is NOT from the Geno project. I’m only using it as an example.

Spencer indicated that the sales of the 2.0 product rival those of the 1.0 product and that they have sold substantially more than 10K and substantially less than 100K kits so far. In total, they have sold more than 470,000 kits in over 130 countries. And that’s just the public participation part, not the indigenous samples. They have collected over 75,000 indigenous samples from more than 100 populations resulting in 36 publications to date with another half dozen submitted but not yet accepted. Academic publication is a very long process.

Nat Geo has given 62 legacy grants to indigenous communities that have participated totaling more than 1.7 million dollars. That money comes in part from the public participation kits, meaning Geno 1.0 and now 2.0.

Geno 2.0 continues to be a partnership between National Geographic and Family Tree DNA. Family Tree DNA is running all of their samples in the expanded Houston lab. Also added to the team is Dr. Eran Elhaik at Johns Hopkins University who has developed a new tool, AIMSFINDER, that locates never before identified Ancestral Informative Markers to identify population specific markers. This is extremely important because it allows us to read our DNA and determine if we carry the markers reflective of any specific population. Well, we don’t do the reading, they do with their sophisticated software. But we are the recipients with the new deep ancestral ethnicity results which are more focused on anthropology than genealogy. Spencer says that if you have 2% or more Native American, they can see it. They have used results from both public and private repositories in developing these tools.

This type of processing power combined with a new protocol that tests all SNPS in a sequence, not just selected ones, promises to expand the tree exponentially and soon. It has already been expanded 7 fold from 863 branches of the Y tree to 6153 and more have already been discovered that are not on the GenoChip, but will be in the next version.

The National Geographic project will also be reaching out to administrators and groups who may have access to populations of interest. For example, an ex-pat group in an American city. Keep this in mind as you think of projects.

Another piece of this pie is a new educational initiative in schools called Threads.

This isn’t all, by any means, on this topic, I really do encourage you to go and use Twitter hashtag #ftdna2012. Several of us were tweeting and the info was coming so fast and furious that no one could possibly get it all.

The future with Nat Geo looks exceedingly bright. We have gone from the Barney Rubble age to the modern era and now there is promise for a rosy and as yet undiscovered future.

Judy Russell was next. I have to tell you, when I saw where they positioned her, I was NOT envious. I mean, who wants to follow Spencer Wells, even if he’s not there in person. Well, if anyone was up to this, it certainly was Judy. For those who don’t know, she blogs as The Legal Genealogist.

Judy is one of us. That means she actually understands our industry, what drives genealogists and why. In addition to being a lawyer, she is a certified genealogist and a genetic genealogy crazy too. Maybe I shouldn’t call a lawyer crazy….well…it was meant as a compliment:)

Judy has the perspective to help us, not just criticize us remotely. She reviewed several areas where we might make mistakes. After all, we’re all volunteers coming from quite varied backgrounds. She suggests that we all put some form of disclosure on our projects explaining what participants can expect in terms of use. She used the Core Melungeon project as a good example, along with the Fox project.

“The goal of this project is to use DNA to better understand the origins of the Melungeon people, and this will be done by comparing the DNA with other project members, those outside of projects, and will incorporate relevant genealogical and historical research. All participants will be included in the ongoing studies and by joining the project, you are giving consent for your information to be anonymously included in ongoing genetic genealogy research. Your personal identity will not be revealed, but your results will be used to better understand the Melungeons as a people and their ancestors.”

From the Fox project:

“The exact function of these STR markers is not yet known and they have no known medical function but recent research shows they have some sort of regulatory function on the genes. While there is no medical information in these numbers, the absence of a certain few markers near a fertility gene could indicate sterility – something that would certainly already be known.

The results do provide a partial means of personal identification and, for this reason, our haplotype tables list only the FTDNA kit number and the most distant known male line ancestor. Within the project, however, the administrators feel free to disclose identities, particularly when a close match occurs.”

Judy’s stressed that we not tell people that there is no medical information revealed. Partially, because we’ve discovered in rare cases that’s not true, and partially because we can’t see into the future.

Judy talked about regulation and that while we fear what it might intentionally or inadvertently do to genetic genealogy, it’s important to have regulations to get rid of the snake oil salesman, and yes, there are a couple in genetic genealogy. They give us all a black eye and a bad name when people discover they’ve been hoodwinked. However, without regulation of some sort, we have no legal tools to deal with them.

Regulation certainly seems to be a double-edged sword.

I hope that Judy writes in her blog about what she covered in her session, because I think her message is important to all administrators and participants alike. And just to be clear, the sky is not falling and Judy is not Chicken Little. In fact, Judy is the most interesting attorney I have ever heard speak, and amazingly reasonable too. She actually makes you WANT to listen, so if you ever get the chance to see one of her webcasts or attend one of her sessions, take the opportunity.

Following the break, breakout sessions began. CeCe Moore ran one about “Family Finder,” Elise Friedman about “Group Administration” and Thomas Krahn provided the “Walk the Y Update.” Bennett called this the propeller head session. Harumph Bennett. Guess you know which one I attended. All sessions were offered a second time on Sunday.

Thomas said that they have once again upgraded their equipment, doubling their capacity again. This gives 4 times the coverage of the original Walk the Y, covering more than 5 million bases. To date, they have run 494 pre-qualified participants and of those, 198 did not find a new SNP.

There are changes coming in how the palindromic region is scored which will change the matches shown. Palindromic mismatches will now be scored as one mutation event, not multiples. Microalleles will able be reported in the next rollout version, expected probably in January. The problem with microalleles is not the display, but the matching routine.

Of importance, there has not been an individual WTY tested from haplogroups B, M, D or S, and we need one. So if you know of anyone, please contact Thomas.

Thomas has put his Powerpoint presentation online at http://www.dna-fingerprint.com/static/FTDNA-Conference-2012-WalkThroughY.pdf

The next session by Dr. Tyrone Bowes was “Pinpointing a Geographical Location Using Reoccurring Surnames Matches.” For those of us without a genetic homeland, this is powerful medicine. Dr. Bowes has done us the huge favor of creating a website to tell us exactly how to do this. http://www.irishorigenes.com/

He uses surnames, clan maps, matches, history and census records to reveal surname clusters. One tidbit he mentioned is that if you don’t know the family ethnicity, look at the 1911 census records and their religion will often tell you. Hmm, never thought of that, especially since our American ancestors left the homeland long ago. But those remaining in the homeland are very unlikely to change, at least not in masse. I’m glad he gave this presentation, or I would never have found his webpage and I can’t wait to apply these tools to some of my sticky-wickets.

This ended Saturday’s sessions, but at the end of every day, written questions are submitted for that day’s presenters or for Family Tree DNA.

Bennett indicated that another 3000 or 4000 SNPs will be added to the Family Finder calculations and a new version based on reference samples from multiple sources will be released in January.

Bennett also said that if and when Ancestry does provide the raw downloadable data to their clients, they will provide a tool to upload so that you can compare 23andMe and Ancestry both with your Family Finder matches.

Saturday evening is the ISOGG reception, also called the ISOGG party. Everyone contributes for the room and food, and a jolly good time is had by all. There is just nothing to compare with face to face communications.

For me, and for a newly found cousin, this was an amazing event. A person named Z. B. Stroud left me a message that she was looking for me. When I found her, along with her friend and cousin Revis, she tells me that she matches me autosomally, at 23andMe, and that she had sent me a sharing request that I had ignored. I am very bad about that, because unless someone says they are related, I presume they aren’t and I don’t like to clutter up my list with non-related people. It makes comparisons difficult. My bad. In fact, I’m going right now to approve that sharing request!!!

I will blog about this in the future, but without spilling too many beans….we had a wonderful impromptu family reunion. We think our common ancestor is from the Halifax and Pittsylvania County region of Virginia, but of course, it will take some work to figure this out.

I’m also cousins with Revis Leonard (second from left). We’ve known that for a long time, but Z.B. whose first name is Brisjon (second from right) is new to genealogy, DNA and cousin matching. I’m on the right above. The Stroud project administrator, Susan Milligan, also related to Brisjon is on the left end. In the center are Brisjon’s two cousins who came to pick her up for dinner and whom she was meeting for the first time.

But that’s not all all, cousin Brisjon also matches Catherine Borges. Let me tell you, I know who got the tall genes in this family, and I’m not normally considered short. Brisjon’s genealogical journey is incredibly amazing and she will be sharing it with us in an upcoming book. Suffice it to say, things are not always what you think they are and Brisjon is living proof. She also met her biological father for the first time this weekend! I’m sure Houston and her 2012 visit where she met so many family members is a watershed event in her lifetime! She is very much a lovely lady and I am so happy to have met her. Cousins Rule!

ISOGG traditionally has its meeting on Sunday morning before the first session. Lots of sleepy people because everyone has so much fun at the ISOGG party and stays up way too late.

Alice Fairhurst, who has done a remarkable job with the ISOGG Y SNP tree (Thank you Alice!) knows an avalanche is about to descend on her with the new Geno 2.0 chip. They are also going to discontinue the haplogroup names, because they pretty much have to, but will maintain an indented tree so you can at least see where you are. The names are becoming obsolete because everytime there is an insertion upstream, everything downstream gets renamed and it makes us crazy. It was bad enough before, but going from 860+ branches to 6150+ in one fell swoop and knowing it’s probably just the beginning confirms the logic in abandoning the names. However, we have to develop or implement some sort of map so you can find your relative location (no pun intended) and understand what it means.

Alice also mentioned that they need people to be responsible for specific haplogroups or subhaplogroups and they have lost people that have not been replaced, so if anyone is willing or knows of anyone….please contact Alice.

Alice also makes wonderful beaded double helix necklaces.

Brian Swann (sorry, no picture) is visiting from England this year and he spoke just a bit about British records. He said it’s imperative to learn how they work and to use some of the British sites where they have been indexed. He also reminded us to check GOONS (Guild of One Name Studies) for our surnames and that can help us localize family groups for recruiting. He said that you may have to do family reconstructions because to get a Brit to test you have to offer them something. That’s not terribly different from over here. He also mentioned that today about half of the British people having children don’t marry, so in the next generation, family reconstruction will be much more difficult. That too isn’t so terribly different than here, although I’m not sure about the percentages. It’s certainly a trend, as are varying surname practices even within marriage.

Dr. Doron Behar began the official Sunday agenda with a presentation about the mtCommunity and a discussion of his recently published paper “A ‘Copernican’ Reassesement of the Human Mitochondrial DNA Tree from its Root.” This paper has absolutely revolutionized the mitochondrial DNA community. I blogged about this when the paper was first released and our home pages were updated. One point he made is that it is important to remember is that your mutations don’t change. The only thing that changes between the CRS (Cambridge Reference Sequence) and the RSRS (Reconstructed Sapiens Reference Sequence) model is what your mutations are being compared to. Instead of being compared to someone from Europe who live in 1981 (the CRS) we are now comparing to the root of the tree, Mitochondrial Eve (RSRS) as best we can reconstruct what her mitochondrial DNA looked like.

He also said that when people join the mtCommunity, their results are not automatically being added to GenBank at NCBI. That is a separate authorization check box.

A survey was distributed to question participants as to whether they want results, when they select the GenBank option, to be submitted with their kit number. Now, they are not, and they are under Bennett’s name, so any researcher with a question asks Bennett who has no “track back” to the person involved. About 6000 of the 16,000 submissions today at GenBank are from Family Tree DNA customers. Dr. Behar said that by this time next year, he would expect it to be over half. Once again, genetic genealogy pioneers are leading the way!

At these conferences, there is always one session that would be considered the keynote. Normally, it’s Spencer Wells when he is on the agenda, and indeed, his session was wonderful. But at the 2012 conference, this next session absolutely stole the show. Less public by far, and much less flashy, but at the core root of all humanity.

You can’t really tell from the title of this session what is coming. Michael Hammer with Thomas Krahn and Bonnie Schrack, one of our own citizen scientists, presented something called “A Highly Divergent Y Chromosome Lineage.” Yawn. But the content was anything but yawn-material. We literally watched scientific discovery unfold in front of our eyes.

Bonnie Schrack is the haplogroup A project administrator. Haplogroup A is African and is at the root of the entire haplotree. One of Bonnie’s participants, an African American man from South Carolina agreed to participate in WTY testing. In a nutshell, when Thomas and Astrid began scoring his results, they continued and continued and continued, and wound up literally taking all night. At dawn’s first light, Thomas told Astrid that he thought they had found an entirely new haplogroup that preceded any known today. But he was too sleep deprived to be sure. Astrid, equally as sleep deprived, replied with “Huh?” in disbelief. It’s certainly not a statement you expect to hear, even once in your lifetime. This is a once in the history of mankind event.

Dr. Michael Hammer confirmed that indeed, they had discovered the new root of the human Y tree. And not by a little either, but by a lot. For those who want to take a look for yourself, Ysearch ID 6M5JA. Hammer’s lab did the age projection on this sample, and it pushed the age of hominid men back by about 100,000 years, from 140,000 years ago to 237,000 years ago. They then reevaluated the aging on all of the tree and have moved the prior date to about 200,000 years ago and the new one to about 338,000 years ago with a 98% confidence level. This is before the oldest fossils that have been found, and also before the earliest mitochondrial DNA estimate, which previously had been twice as old as the Yline ancestor.

The previous root, A1b has been renamed A0 and the new root, just discovered is now A00. Any other new roots discovered will simply get another zero appended.

How is it that we’ve never seen this before? Well, it turns out that this line nearly went extinct. Cruciani published a paper in 2012 that included some STR values that matched this sample, but fortunately, Michael Hammer’s lab held the actual samples. A search of academic data bases reveals only a very few close matches, all in western Cameroon near the Gulf of Guinea. Interestingly, next door, in Nigeria, fossils have been found younger than this with archaic features. This is going to cause us to have to reevaluate the source of this lineage and with it the lineage of all mankind. We must now ask the question about whether perhaps we really have stumbled upon a Neanderthal or other archaic lineage that of course “became” human. Like many scientific discoveries, this answer only begs more questions. My husband says this is like Russian tea dolls where ever smaller ones are nested in larger ones.

This discovery changes the textbooks, upsets the proverbial apple cart in a good way, and will keep scientists’ thinking caps on for years. And to think, this was a result of one of our projects, an astute project administrator (Bonnie) and a single project member. I wonder what the man who tested thinks of all of this. He is making science and all he thought he was doing was testing for genealogy. You just never know where the next scientific breakthrough will come from. Congrats to all involved, Bonnie, Thomas, Michael and to Bennett and Max for having this evolution revolution happen right in their lab!

If I felt sorry for Judy following Spencer, I really felt sorry for the breakout sessions following Thomas, Michael and Bonnie’s session. Thankfully at least we had a break in-between, but most people were wandering around with some degree of stunned disbelief on their faces. We all found it hard to fathom that we had been among the first to know of this momentous breakthrough.

I had a hard time deciding which session to attend, CeCe’s “Family Finder” session or Elise’s. I decided to attend Elise’s “Advanced Admin Techniques” because I work with autosomal DNA with my clients and I tend to keep more current there. Elise’s session was great for newer admins and held tips and hints for us old-timers too. I realized I really need to just sit down and play with all of the options.

There are some great new features built in that I’ve never noticed. For example, did you know that you can group people directly from the Y results chart without going to the subgrouping page? It’s much easier too because it’s one step. However, the bad news is that you still can’t invite someone who has already tested to join your project. Hopefully that feature will be added soon.

The next session was “A Tale of Two Families” given by Rory Van Tuyl detailing how he used various techniques to discern whether individuals who did not show up as matches, meaning they were beyond the match threshold, were actually from the same ancient family or not. Rory is a retired engineer and it shows in his attention to detail and affinity for math.

We always tell people that mutations can and do happen at any time, but Rory proved this. He ran a monte-carlo simulation and showed that in one case, it was 50 generations between mutations, but in others, there was one mutation for three generations in a row. Mutations by no means happen at a constant rate. Of course, this means that our TIP calculator which has no choice but to use means and averages is by definition “not calibrated” for any particular family.

He also mentioned that his simulation shows that by about 150 generations, there are a couple of back mutations taking place.

The final session before the ending Q&A was Elliott speaking about IT, which really translates into new features and functions. Let’s face it, today everything involves IT.

Again, I was having trouble typing fast enough, so you might want to check the Twitter feed.

They added the SNP maps (admins, please turn them on) and the interactive tour this year. The tour isn’t used as much as it should be, so everyone, encourage your newbies to do this.

They have also added advanced matching, which I use a lot for clients, but many people didn’t realize it. So maybe a quick tour through the website options might be in order for most of us.

They are handling 50 times more data now that a year ago. Just think what next year will bring. Wow.

They are going to update the landing page again with more color and more visible options for people to do things. I hope they prompt people through things, like oldest ancestor mapping, for example. Otherwise, if it isn’t easy, most don’t.

They are upgrading Population Finder and the Gedcom viewer. They are adding a search feature. Thank you!! Older Gedcome will still be there but not searchable.

But the best news is that they are adding phasing (parent child) and an advanced capability to “reconstruct” an ancestor using more distant relatives, then the ability to search using that ancestral profile against Family Finder. Glory be! We are finally getting there. Maybe my dreaming big wasn’t as far away as I thought.

They will also remove the 5 person autosomal download restriction and the “in common with” requirement to see additional information. All good news. They are also upgrading the Chromosome browser to add more filtering options.

They are also going to offer a developer “sandbox” area for applications.

The final Q&A session began with Bennett saying that their other priorities preclude upgrading Y search to 111 markers.

They are not planning to drop the entry level tests, 12 or 25 markers or the HVR1. If they do, lots of people will never take that plunge. I was very glad to hear this.

And by way of trivia, Family Tree DNA has run more than 5 million individual tests. Wow, not bad for a company that didn’t exist, in an industry that didn’t exist, 12 years ago!

It’s an incredible time to be alive and to be a genetic genealogist! Thank you Family Tree DNA for making all of this possible.

______________________________________________________________

Disclosure

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

Legacy Tree Genealogists for genealogy research

Is History Repeating Itself at Ancestry?

Posted on August 30, 2012 by Roberta Estes

118

Is history repeating itself at Ancestry?

I’ve been thinking about whether or not I should publish this posting. As I write and rewrite it, I still haven’t made up my mind. It’s one of those sticky wickets, as they are called. One of the reasons I hesitate is that I have far more questions than answers.

One of the reasons I feel like I should publish it is because we, as a community, have far more questions than answers. I’m concerned that we’re being exploited, manipulated and deceived. I feel like we’re already on the way down a slippery slope, and I fear a flush is at the bottom. If that is true, we’re entirely powerless if we don’t know about it.

Since you are reading this, I obviously decided to publish it, so I’ll let you decide for yourself.

Over the past few weeks, I’ve been getting this sinking feeling in the pit of my stomach as Ancestry’s most recent DNA testing mess has unfolded like the leaves on the beautifully deceptive skunk plant. Yes, the skunk plant is named that for the reason you think…things just aren’t what they seem at first glance…and they smell….really smell. And by the time you figure out that you’ve made an error in judgment, you’re in the middle of a smelly mess.

This isn’t the first time that Ancestry has had some really significant problems with DNA testing and quality. However, this second time is more complex and includes ethics issues. I’m not sure where the problem lies, and maybe the answer isn’t in just one place, but multiple problems in multiple places.

Those who fail to learn from history are doomed to repeat it. Let’s take a look.

Ancestry and Sorenson

In 2002 Ancestry introduced DNA testing for their customers by partnering with Relative Genetics, an arm of Sorenson, which had just been formed. Of course, this was not autosomal testing, but Yline and mitochondrial DNA. To say this was unsuccessful is an understatement and being kind. Ancestry lost kits, having to eventually give refunds, “predicted” haplogroups dramatically incorrectly (paternal cousins in haplogroups R and G, respectively), and generally made a mess of DNA testing. Thankfully, they didn’t last long and one day – poof….gone. No more Ancestry.com DNA testing. The lab? Sorenson. What or where was the problem or problems? I have no idea. Just like the young girl who went away to live with “Auntie” and had a baby, it was never publicly discussed.

Let’s take a look at Sorenson.

Sorenson and GeneTree

Sorenson, www.smgf.org, was founded as a nonprofit research organization in 1999 by Mormon philanthropist, James Sorenson (deceased in 2008) in order to study the relationship between DNA and genealogy. Unlike other testing companies, initially there was no charge to submit your DNA, but you were required to include a 4 generation pedigree chart. You did not receive personal results. Your results were, in time, added with your pedigree to their data base. Their project to acquire DNA samples and pedigree charts came to an end in June 2009, and free testing was no longer available. They began selling DNA testing services through GeneTree.

In 2007, in a somewhat controversial move, since Sorenson was supposed to be nonprofit and research only, they reconfigured and “launched” GeneTree, a DNA paternity testing company that they had acquired in 2001.

In 2009, they began to offer a resource for people to be able to obtain their Sorenson results and matches for a fee. I was excited about being able to “unlock” my Sorenson matches as they advertised. I ordered this “unlock” for $39 the very first day it was available, and sure enough, I had several matches, BUT, none of them were unlocked, so I couldn’t “see” them. I was encouraged to contact my matches through an internal message system and ask them to also pay the $39 to unlock their results so we could “see each other.” I clearly didn’t understand the nature of ‘unlock”, or really, half-unlocked, when I spent my $39. However, I figured if I just waited, eventually, others would unlock theirs too. After all, it was the first day.

I didn’t have a good feeling about how this unfolded. I felt like they were just using their customers to recruit other customers AFTER they had paid their unlock fee. Kind of a mini dna pyramid scheme.

I checked back periodically, and one day, I could no longer access my results. I contacted GeneTree and was told I had never ordered the “unlock.” I sent them screen shots of my matches, which I had taken on the first day, but to no avail. I could either try to find my original receipt and use that as my next form of argument, or simply give up. I decided that since very few people were unlocking results, and none, of course, were full sequence, it was pretty much futile anyway and I didn’t spend any more time fighting with them. They obviously had no motivation to find my records and make it right. I went from feeling somewhat used by Sorenson/GeneTree to disgusted.

Ancestry’s ComeBack with Relative Genetics

After Ancestry’s first entrance and exit from the genetic genealogy playing field, they linked search-result surnames to Family Tree DNA’s projects. One day in 2006, we noticed the link was gone and suspected that they were preparing to reenter the DNA testing space, and indeed they did in 2007 by purchasing Relative Genetics, their earlier partner.

I never tested at Relative Genetics, but I do understand that their clients were notified and there was an opportunity to opt out of that transfer. Many people felt this should have been handled the other way – that you should have had to “opt-in” instead of opting out.

The Relative Genetics results were transferred into an Ancestry data base. Ancestry simultaneously began their own testing program, and allowed people who tested at other labs to manually enter their data as well. This increased Ancestry’s data base so that people who tested through Ancestry had results to compare to.

Ancestry still has issues with haplogroups because they don’t test SNPS. Until they do, they will never be able to correctly assign haplogroups.

Their mitochondrial DNA matching is chronically wrong. I have no idea how they do that, but anyone could do better with a simple spreadsheet, or even visually looking at the list. Quality controls are apparently absent, in this, the most simple of tasks, and it surely calls into question the level of quality control in place for more complex tasks and matching where we can’t see all of the data. This continual problem engenders no confidence at all, and the worst part is that it has been like this now for years and they have never fixed the issues. Either their quality control is sorely lacking, or they simply don’t care.

As far as I was concerned, I was thoroughly disgusted by this point. It had become apparent that adding people to their data base, in spite of clerically introduced mutations (typos), and generating revenue was a much higher priority than providing correct data on the back end. But then again, Ancestry, in their other businesses, has never been known for accuracy or quality – only for barely-acceptable levels of mediocrity.

Of course, Ancestry has been on a shopping spree – buying up anything that smells like competition.

Ancestry Buys Sorenson and Genetree

In May of 2012, Ancestry purchased GeneTree and the genealogical and anthropological assets of Sorenson, including their DNA data base. Those of us who had contributed our DNA to Sorenson for research purposes felt betrayed and exploited. Never did we imagine, in our wildest dreams, that our DNA would wind up with a commercial entity that would use our data, that was never “released” to us, to profit. Nor were we notified. If you managed to hear about this through the genealogy grapevine, there is apparently an “opt out” option if you contact Ancestry.com. I could not find a link, but calling their support number should do it. It’s unclear whether Ancestry actually bought the Sorenson lab. Sorenson still does Forensic work and the management team at Sorenson Forensics is different than the Ancestry team.

Ancestry and Autosomal DNA Testing

In 2012, concurrent with the Sorenson/GeneTree purchase, Ancestry began to offer autosomal DNA testing, presumably using Sorenson’s lab, although I have been unable to verify that and Ancestry themselves are very tight lipped about the topic. Given the history of quality and confidence issues, many old-timers in this field were skeptical. We had hoped that perhaps Ancestry had spent enough time and investment up front that they would “get it right” this time. CeCe Moore’s first posting was exciting, and we hoped that once again, one of the companies would set a new standard for everyone to leapfrog to. It didn’t take long to discover that wasn’t the case.

If you haven’t already seen the series of blogs about Ancestry’s quality issues with autosomal testing, take a look at CeCe Moore’s blog postings about Scandinavian admixture and more recently, the horribly discouraging adoption sibling match mixup.

To me, the worst part of this mixup issue isn’t that a mistake was made. It has happened before at other labs, but the difference is that in the other case, the company, 23andMe, stepped right up to the plate, took responsibility, and fixed the issue along with the underlying problem. They didn’t try to make it someone else’s issue or pass the buck…and they were truthful.

In this case, when Ancestry was notified by the customer that an issue existed, apparently Ancestry did not take significant notice of the situation. If there is a link or escalation procedure between the support department and the lab, it apparently wasn’t initiated or didn’t work. After the customers persisted, Ancestry said they would send them a new kit, but it would be about 2 months or so before they got results. Clearly, Ancestry wasn’t concerned that they had an issue within their system someplace…or that 2 months would have shrunk into overnighting kits and an immediate lab run.

Because Ancestry does not allow people to access or download their actual raw data, as does Family Tree DNA and 23andMe, the participants were unable to verify or dispute the findings and had to rely solely on Ancestry’s fatally flawed comparison.

Out of sheer frustration, and a sense of ethics since she had initially encouraged autosomal testing through Ancestry, CeCe Moore then reported what happened on her blog. It took Ancestry another 3 full days to “discover” her post, call her and finally offer an explanation that was, in fact, significantly different than that given to the actual client whom CeCe is working with. Had Ancestry paid attention, it would never have gotten to this point. Had they listened to the customer, it would never have gotten to this point. If they allowed people access to their own data, we would have tools to help these people and it would probably never have gotten to this point. Looks like we don’t have to wonder anymore about Ancestry’s quality controls.

However, we’re not done yet. To add insult to injury, Ancestry then claimed that they discovered this error themselves, through their “quality control procedures.” Really? When did CeCe’s blog become part of Ancestry’s quality control procedure?

Here is their reply on CeCe’s blog.

“AncestryDNA, and the laboratories we work with, take the quality and accuracy of our DNA test very seriously. Through our quality control procedures, we recently discovered that a small number of customers had a problem with their DNA results due to a laboratory error. In the rare case where there is an error, we work directly with our members to correct the results, which in some cases requires a new DNA sample. We have contacted all the individuals affected by this error and are in the process of correcting it. We sincerely apologize for any inconvenience and confusion that can be a result of an error and are working hard to make this right for our members in a timely manner. We appreciate everyone’s patience as we continue to fine-tune this exciting new product.”

Compare the above statement about how important quality is to Ancestry to the following section from their mandatory release that everyone has to sign when they activate the AncestryDNA autosomal DNA kit.

“In addition, we do not make any representations as to the accuracy, comprehensiveness, completeness, quality, currency, error-free nature, compatibility, security or fitness for purpose of the AncestryDNA Website, Content or Service.”

Instead of stepping up to the plate, thanking CeCe for discovering THEIR problem, apologizing and accepting responsibility, Ancestry tried to make this uncomfortable situation CeCe’s fault, saying CeCe should have called them personally instead of blogging, and then misrepresented what happened to cover the ugly truth.

CeCe discusses this phone call in a second blog about this topic. Be sure to read the comments. She is obviously not making any friends at Ancestry, but bless her for being our advocate! David staring up into the face of Goliath.

Consent and Release

In the midst of all of this, we also discovered that, according to Ancestry’s release and consent forms for autosomal DNA testing, that they can aggregate and sell our data. So they can sell our data, including our medical data, but they won’t provide the same raw data to us so we can provide at least a minimal check on their “quality control.” All of a sudden, the low price for the kit and their focus on amassing large amounts of data start to make a little more sense. Who are the customers for purchasing our data? What do they want to do with it?

Ancestry obtains consent by what could be construed as a “shady” practice of positioning the research consent and testing release agreements adjacent, not stating that the research consent is optional and inferring by industry standards that one must click to proceed. The release to sell our data is not optional. And none of this consenting happens when ordering, or prior to ordering, the kit. It happens later, after you’ve paid and received your kit, and there is a $25 charge at that point to cancel the order. Ah yes, the slippery slope.

If you’d like to hear what Dr. Ken Chahine has to say, you can see him testify before the Presidents Commission for the Study of BioEthical Issues. A transcript is here. Dr. Chahine is the senior vice president of Ancestry.com and general manager for Ancestry DNA where he leads the development and commercialization of population genetics. He is also professor of law at the University of Utah and has held various positions in the biotechnology industry including president and CEO of Avigen. He holds a PhD in Biochemistry along with a law degree. In this testimony, he says that Ancestry’s customers own their own data, but then he says the following:

“My thing — what’s interesting from a commercial standpoint is we — a lot of customers get data from either us or from other services. And what I see that’s a little disturbing sometimes is that they upload their data to sites that quite frankly I can’t even have — I try to research who these individuals are that are doing additional research on people’s data. And I’m not even sure who they are or how they’re qualified and if the data that they’re getting back are even, you know, valid, right? So the point is that I think that we are moving in a direction where consumers feel comfortable, rightly or through ignorance, uploading their data to other sites. So I do think that restricting sort of the end I think is important just to be able to take care of that issue.”

Ironic, given Ancestry’s current adoption sibling mixup, that Ken is concerned about “the data they’re getting back are even, you know, valid, right” from other resources, when the information from Ancestry itself isn’t. So apparently Ancestry is being the benevolent parent to all of us, restricting us from having access to our own data, that they say we own, while they retain the right to sell it to others. Hmmm….I smell a rat…or maybe it’s that skunk plant. Ancestry is afraid we might do something “bad” with our data, like, for example, catch their errors.

The True Cost Isn’t $99

And there is more too. It also appears that if your Ancestry subscription expires, that you no longer receive matches that you can contact. If in fact this is accurate, and there is really no way for any of us to test this right now, that was never made apparent when purchasing the kit. Apparently, you will receive the match, but you cannot contact your match unless you subscribe minimally to “Ancestry Connections” which allows limited access to family trees, photos and DNA results for $4.95 per month which equates to $59.40 per year.

So the real cost of the AncestryDNA test isn’t $99, but $99 plus either an Ancestry subscription for $155 per year for the US or $299 for the world or alternately, the cost of Ancestry Connections, $59.40 per year. It’s unclear whether or not if you only subscribe to the US Ancestry package if you only get US matches.

In any event, this subscription requirement was not made apparent up front and it dramatically changes the landscape of the cheap $99 test. It adds strings that weren’t evident up front and if you no longer maintain your subscription in some way, you lose the benefit of your DNA test and any other DNA tests you’ve paid for and are associated with your account. Ouch. How many people would have tested if they knew their results would be held hostage for the price of a subscription? And what happens to those results when you can no longer maintain your subscription? Are they just gone to you forever, but still available for Ancestry to sell and for others to see? Can someone else “adopt” them under their subscription so they can still be available for family members?

In my opinion, this is very ugly and the only benefit to anyone is to Ancestry to be able to extort subscriptions from people who want to maintain access to their DNA results, something they didn’t know they had to do when they purchased the autosomal DNA kits initially. After all, that’s not the way the Yline and mitochondrial results worked, and there was no reason to suspect that autosomal testing would work any differently. This amounts to genetic entrapment.

This is a very different model than at Family Tree DNA where results are available forever with no additional cost, and in perpetuity for the family through either private arrangements (account number and password sharing) or the Beneficiary Assignment on your personal page.

As we unearth the truth, morsel my morsel, I’m sure more information will be forthcoming as people discover what does and does not work, and under what circumstances. But isn’t it sad that we have to do this at all. Whatever happened to being forthright and upfront? I think that is called integrity isn’t it??

How Many Strikes Til You’re OUT???

By now, I’ve lost count of how many strikes Ancestry has. Where is the umpire?

Everyone and every company makes mistakes. But the difference is in how (and if) they handle those errors when they do occur.

Given that Sorenson and Ancestry had the original debacle that ended Ancestry’s early DNA testing foray, and they, together, are having another very similar-feeling debacle in 2012, I have to wonder if history is repeating itself. This difference is that this time, Ancestry is now publicly held and has invested so much money, just considering their initial give-away of 10,000 autosomal kits (about $250-300 market price each, a total of 2.5 to 3 million dollars) to build their database, that they are unlikely to exit. The DNA testing marketplace has too much potential and they have a captive audience of about 2 million subscribers. If every subscriber orders just one test of some type for about $100, that equals 200 million dollars. And corporate profit is about expending as little as possible for as much revenue as possible. Better yet, for Ancestry, DNA is a permanent hook to keep people from letting their subscriptions lapse. The percentage of people who abandon their subscriptions has declined in the past year from from 4 to 3.4%. Perhaps that is part of the reason why they are willing to sell their AncestryDNA product for $99, less than their cost of processing this test, that their two competitors sell for $289 (www.familytreedna.com) and $299 (www.23andme.com), respectively. The other reason, of course, could be that they plan to sell aggregated DNA data.

The thing I find interesting is that at least one individual was at Relative Genetics, at Sorenson/Genetree and is also now at Ancestry. Initially I thought this was a good thing, bringing Ancestry some much needed experience. Now, I’m not so sure. Like I said initially, I don’t really know where there problems lie….I just know they exist and have at some level chronically. On top of this, it seems that things are just never exactly what they seem.

The part of this that I find the most distressing is the positioning – Ancestry experienced a lab error which “they discovered and notified the people”. Not true, at least not in the adoptee’s case. Ancestry couldn’t be bothered to pay attention until CeCe blogged and embarrassed them, and then they distorted the facts. And then they had the audacity to be upset with CeCe. What is wrong with this picture?

Ancestry has positioned themselves to absorb as many DNA results as possible by purchasing other companies and nonprofits, and from the general public entering results into their data base, with little focus on accuracy, and a lot of focus on building their data base and selling kits. They are presuming that most of their customers, being DNA novices, won’t know the difference.

Ancestry has also positioned themselves to sell our results, aggregated, including those we contributed to Sorenson, a nonprofit at that time, but will not release those results to us. I’m referring here to both the Sorenson results and autosomal raw data from the AncestryDNA test.

And whatever happened to all those Genetree people who paid the $39 unlock fee? What about the records they paid to unlock and see? Maybe they just lost all the records and it’s no longer a problem.

This behavior has gone from disheartening to discouraging to disgusting to shady to reprehensible. This is the kind of behavior that eventually will cause this industry to be federally regulated, which will literally drive it out of business. Who would visit a physician to obtain a prescription for genetic genealogy testing? In order to avoid this, it’s important to self-regulate ourselves by bringing pressure for unacceptable behavior to stop.

Call to Action

So, what can we do?

Communicate with Ancestry that their behavior regarding these issues is not acceptable. Neither is their paternalistic attitude on one hand while exploiting their customers on the other. It’s one thing, and bad enough, when dealing with submitted genealogy trees and substandard offshore records translations, but DNA testing must be held to the highest of standards. It is the sacred gift of our ancestors, the ultimate truth. As you are probably aware, Ancestry is encouraging everyone to connect their genealogy trees to their DNA results so they can be populated up the trees. It’s only a matter of time, on the present course, until they have a mess that can’t be unraveled.
If you have taken the AncestryDNA autosomal test, request your raw data results from Ancestry. They think CeCe is a lone renegade voice. She is not. We’re a community. Call them at 800-262-3787 (regular support) 800-958-9124 (DNA support) or click on the “Beta Send Feedback” button at the top right of your DNA page. They have stated that feedback through these avenues, especially the Beta Feedback button, is how they are prioritizing their next steps for DNA. This data is yours and you have a right to have it. Furthermore, you can never verify the accuracy of what they report without it.
Vote with your money and buy either at Family Tree DNA or 23andMe. While both have their advantages and disadvantage, neither the ethics or quality of either of those companies is being called into question. Neither requires a subscription. Family Tree DNA never has.
Tell your friends, family and project members to do the same. Those 2 million subscribers that will potentially order DNA tests are all related to someone.

If Ancestry can’t get it right, then they shouldn’t pollute this industry for the rest of us. I hope they get it right and recover their credibility. I hope I’m wrong about the slippery slope and the flush. But I know I’m not wrong about the skunk-plant.

In the mean-time, I leave you with the saying that’s been on the wall for years at Baskin-Robbins:

“There is hardly anything in the world that someone cannot make a little worse and sell a little cheaper, and the people who consider price alone are that person’s lawful prey.”

______________________________________________________________

Disclosure

Thank you so much.

DNA Purchases and Free Transfers