The Genetic Genealogist

Adding DNA to the Genealogist's Toolbox

Archive for June, 2008


The Genetic Mess in California – A Round-Up, and My Thoughts

On June 9, 2008, the California Department of Public Health sent cease and desist letters to 13 companies that offer genetic testing. According to the letters, the companies are in violation of certain sections of the Business and Professions Code of California, including offering “a clinical laboratory test directly to the consumer without a physician order” since such tests “must be ordered by a physician or surgeon” (according to these officials). Copies of the letters are available here. The companies receiving letters are:

  • 23andMe
  • CGC Genetics
  • deCODEme Genetics
  • DNA Traits
  • Gene Essence
  • HairDX LLC
  • Knome
  • Navigenics
  • New Hope Medical
  • Salugen
  • Sciona Inc
  • Smart Genetics
  • Suracell Inc

I’m entering this discussion late, although I’ve been watching with great interest. What I’ve noticed is that much of the discussion, both in the blogosphere and the media, is confusing or ignoring the fact that there are actually two questions involved here.

Question One:

The first question is solely a legal one: are these companies actually in violation of the California statutes? Ultimately, this question won’t be decided by the California DOH or the genetic companies; it will be up to the courts to decide (if it gets that far). It is important to note that just because officials at the California Dept of Health have interpreted these statutes this way doesn’t mean (1) that their interpretation is correct, or (2) that this type of testing is what the statute was meant to protect or defend against. Craig Manson at GeneaBlogie raises the same point:

The other point is that there is not necessarily a violation of state law simply because a mid-level bureaucrat says there is. There are questions about how the statute was intended to be interpreted and even some constitutional questions here.

Since at least a few of these companies have decided to ignore the cease and desist letters, they must believe that their testing is outside the prohibitions of the statutes, or that the statutes are unconstitutional (e.g. they impinge on an individual’s constitutional rights).

Question Two:

The second question is a matter of opinion: SHOULD genetic testing by these companies without a physician be illegal? This is a question that involves personal philosophy, ethics, and beliefs, and we should each answer this question for ourselves. I know what I believe, and I know what many of my fellow bloggers believe. But I hesitate to force my answer on anyone else. I would rather see a system where people can answer this question for themselves and then order from the appropriate company (i.e. a company with a physician, or a company without a physician).

What About the Uninsured?

And finally, there is one other point that I haven’t seen discussed anywhere else. Although genetic testing is expensive right now, it won’t be for much longer. In the next 5-10 years I’ll be able to send off my DNA and receive my entire sequence for much less than $1000. However, if a company is forced to employ geneticists and physicians to order tests and then interpret them for the customer, the price of testing will remain higher than it otherwise could be. Alternatively, an individual might be forced to visit a doctor who will then order the test for them, and then they’ll have to visit again when the results are returned. In either scenario, the expense of sequencing might be beyond the reach of most low- to middle-class Americans (as it is now). To compound this problem, many of these people do not have health insurance.

I agree completely that people who are uninsured should spend money on proper doctor’s visits rather than genetic testing, but in a few years – as we learn more – that will change. In the future genetic sequencing could have a huge impact on a person’s health and medical care. What happens if the uninsured can’t afford genetic testing because of these potentially expensive regulations? It might be a little far-fetched, and I don’t have an answer, but I thought I’d at least raise the concern.

The Round-Up

Here are some blogosphere reactions:

Here are some articles about the dilemma in California and New York:

Sequencing the Cacao Tree Genome

Although it’s not really genetic genealogy, this story was too interesting to pass up.

Mars food company announced on Friday that it is partnering with IBM and the Department of Agriculture to sequence and analyze the entire cocoa genome. Mars will provide more than $10 million and will make the sequencing and analysis results freely accessible through the Public Intellectual Property Resource for Agriculture.

Unfortunately for those of us that love chocolate, the cacao tree is under attack. According to an article in the Washington Post, “West Africa, which produces 70% of the world’s cocoa, has been hammered by bad weather in the past few years.” Additionally, the cocoa industry in Brazil has been almost completely destroyed by a fungus known as witches’ broom.

The cocoa genome is roughly 400 to 500 million base pairs, compared to 3 billion in the human genome. As a result, the scientists involved in the project estimate that it will take a year to sequence the cocoa genome.

TGG Interview Series VI – Ann Turner

Ann Turner has been a member of the genetic genealogy community since 2000, and during that time she has made great contributions to field (as will become obvious from her interview). According to her brief biography at the Journal of Genetic Genealogy:

Ann Turner is the founder of the GENEALOGY-DNA mailing list at RootsWeb and the co-author (with Megan Smolenyak) of “Trace Your Roots with DNA: Using Genetic Tests to Explore Your Family Tree.” She received her undergraduate degree in biology in 1964 and her M.D. from Stanford University in 1970. In recent years, she developed software for neuropsychological testing and wrote utility programs for the PAF genealogy program. One of these utilities provided a way to split out all people in a database who were related via their mitochondrial DNA, six years before mtDNA tests were commercially available. The inspiration for this feature came from the (then) forward-looking predictions of Dr. Thomas Roderick, now associate editor of JoGG.

As stated in her bio, Ann is the co-author of “Trace Your Roots With DNA”, the premiere book on genetic genealogy (the other co-author, Megan Smolenyak Smolenyak, was featured earlier in this series). Ann continues to contribute frequently to the GENEALOGY-DNA mailing list at Rootsweb, and has been especially active in genetic genealogical analysis of new SNP testing by companies such as 23andMe and deCODEme. Once again, I highly recommend subscribing to the GENEALOGY-DNA mailing list if you are interested in genetic genealogy testing!

In the following interview, Ann discusses her introduction to genetic genealogy, some of her experiences with testing, and the use of large-scale SNP testing for genealogical purposes.

TGG: How long have you been actively involved in genetic genealogy, and how did you become interested in the field?

Ann Turner: I’ve been actively involved since the year 2000, when DNA testing for the ordinary consumer first came to market. I had been waiting for that moment for a long time, though. I was first inspired by an article in the NEHGS magazine by Thomas Roderick, Mary-Claire King, and Robert Charles Anderson. It was the first to point out the potential of tracing long matrilineal lines with mtDNA. That was written clear back in 1992, so it took a while for my dream to become reality. I wanted to have someone to chat with about this new field, so I founded the GENEALOGY-DNA mailing list. Be careful what you wish for! The list now carries thousands of messages per month. But it was also the means by which I “met” Megan Smolenyak, my co-author for “Trace Your Roots with DNA” and countless other wonderful fellow travelers in this strange new land.

TGG: Have you undergone genetic genealogy testing? Were you surprised with the results? Did the results help you break through any of your brick walls or solve a family mystery?

AT: Yes, I’ve experimented with many different types of tests. One of the most satisfying endeavors was learning the real surnname and origins of a great-grandfather, who was orphaned at a young age. There were family legends that he had a half-brother, who was taken in by another family and never heard from again. Through traditional genealogy research, I tracked down a potential descendant and ordered a Y-DNA test for him and a cousin of mine. The result was a perfect match. The next step was to connect this family to a Lancaster County, Pennsylvania line, which traced its origins and an unusual spelling of the surname back to 1740. I simply put out a call for any male named Shreiner, and the respondent was also a perfect match. Again, this technique was combined with traditional genealogical research, which always goes hand-in-hand with DNA testing, but it was the DNA that enabled me to span centuries: 150 years forward to a descendant of the half-brother, and 150 years back to the origins of the surname in the United States.

TGG: I know that you have been analyzing the results of large-scale genome scanning tests by 23andMe and deCODEme, and I was wondering what your thoughts are regarding the applicability of these results to genetic genealogy. Will these SNP tests shed light on the human Y-DNA or mtDNA trees, or should we just wait a few years for full-genome sequencing?

AT: The mtDNA and Y-SNP tests from the genome scans are no substitute for the mtDNA and Y tests offered through the genealogically oriented companies, which offer much greater resolution. I regard those features as fringe benefits of the scans, which provide access to an unprecedented amount of autosomal data. Someday it may be possible to trace small segments of autosomal DNA (“haplotype blocks”) to a common ancestor. That will require massive databases and massive computational power! Sorenson Molecular Genealogy Foundation is pioneering in this new domain.

TGG: Thank you Ann, for a terrific interview!

TGG Interview Series V – Whit Athey

The name Whit Athey is undoubtedly very familiar to many genetic genealogists. Whit’s Haplogroup Predictor, used to predict an individual’s paternal haplogroup based on DNA test results, is one of the most valuable online (and FREE) tools for genetic genealogists.

Among Whit’s many contributions to the field, he is also the Editor (and frequent contributor) of the Journal of Genetic Genealogy. From his biosketch:

“Whit Athey is a retired physicist whose working career was primarily at the Food and Drug Administration where he was the chief of one of the medical device labs. He received his doctorate in physics and biochemistry at Tufts University, and undergraduate (engineering) and masters (math) degrees at Auburn University. For several years during the 1980s, he also taught one course each semester in the Electrical Engineering Department of the University of Maryland. Besides his interest in genetic genealogy, he is an amateur astronomer and has his own small observatory near his home in Brookeville, MD.”

In the following interview, we talk about Whit’s introduction to genetic genealogy, the creation of the JoGG, and Whit’s thoughts about the future of the field.

TGG: How long have you been actively involved in genetic genealogy, and how did you become interested in the field?

Whit Athey: I have always been interested in molecular biology, and my graduate work, though primarily in physics, was partly in molecular biology. When the article by Cann, Stoneking, and Wilson came out about 20 years ago, I was really struck by the potential for a better understanding of human origins. However, at that time I was heavily involved in other things, so I was just an interested bystander for many years.

I bought Bryan Sykes’s book, The Seven Daughters of Eve, when it was published in 2001, and this rekindled my interest. I almost ordered the mtDNA sequencing that his company was offering, but it was rather pricey in those days, so I again held off getting personally involved. I did develop a course that I called “The Human Family,” and presented it several times in 2001 and 2002 to local groups.

In 2003 I finally took the plunge and ordered both Y-STR tests and mtDNA sequencing for myself, and I started a surname project for my own surname. I started five other projects during 2004 and 2005.

TGG: You are one of the founders of the Journal of Genetic Genealogy. How did this journal come about, and what are the journal’s goals?

WA: JoGG was really the brainchild of Ann Turner and Dennis Garvey. They had really brought a lot of good work to bear on our fledgling field, and the journal was really their idea. Ann and Dennis can better address the question of why they thought that we needed a journal. The idea immediately appealed to me because of the quality of some of the “amateur” genetics studies that I was aware of. I thought that a number of these studies were worthy of publication in some form.

Anyway, Ann and Dennis organized a meeting of several interested people, including myself, just after the first Family Tree DNA (FTDNA) conference in Houston in November 2004, with the purpose of discussing the possibilities of a new journal. I volunteered to help with getting the journal off the ground. Probably because I seemed to have the most time available, I ended up as its editor.

TGG: Have you undergone genetic genealogy testing? Were you surprised with the results? Did the results help you break through any of your brick walls or solve a family mystery?

WA: Yes, I have tested myself on over 115 Y-STR markers and I have had a full mtDNA sequence done. I am a hopeless test junkie.

My Y haplogroup was quite a surprise to me, considering that my paternal line came to the U.S. from Galway, which is in a part of Ireland that is over 95% R1b. I am in Haplogroup G2-U8, which occurs in northwest Europeans at only about a 1.5% frequency. Furthermore, my cluster of 20 G2 Atheys is a considerable genetic distance from any other G2’s, except for one small family cluster that has the surname, Whitfield. This is quite a coincidence since my given name is Whitfield. So far, we cannot see how it is possible that our two lines are so similar when it appears that the common ancestor must have lived prior to the year 1400.

Most people seem to think that mtDNA has little role to play in genealogy. If you are simply looking for matches in the large databases, then I would agree that most matches that are found are likely to be meaningless for genealogy. However, in the area of hypothesis testing, I think that it can be quite useful. If you are comparing the mtDNA of two people who are suggested (by traditional genealogical methods) to be related along a matrilineal line, then the mtDNA results can either disprove or support your hypothesis.

TGG: What do you think the future holds for genetic genealogy?

WA: I can’t help but believe that we will see a continuing decrease in price and an increase in the number of tests that are available. For the Y-chromosome phylogenetic tree it appears to me that the addition of new SNPs will probably double every 2-3 years. We are also likely to see many new complete mtDNA sequences added to the world’s databases. This increase in resolution for both Y-chromosome and mtDNA trees, together with more people participating in testing, will bring new understanding of human migrations.

I believe that “amateurs” will continue to play a key role in new developments in the future, probably even more than at present. We have the ability to move quickly on a new question and a vast population available of people who have been tested. I think that the time has past when our community just waits on the professional population geneticists to bring new data to us through publications in traditional journals. I think that we will be playing a leading role in the future.

TGG: Thank you, Whit, for a terrific interview!

Other posts in the TGG Interview Series:

TGG Interview Series IV – Alastair Greenshields

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Today’s interview is with Alastair Greenshields, founder of the genetic genealogy testing company DNA Heritage. Alastair is also the founder of Ybase, a Y-DNA database. I recently wrote about a helpful and informative video series by Alastair for DNA newbies (see “New Videos for Genetic Genealogists“).

In today’s interview, I ask Alastair about his introduction to genetic genealogy, some of the ethical issues raised by the recent launches of personal genomics companies, and about the future of genetic genealogy.

TGG: How long have you been involved in genetic genealogy, and how did you become interested in the field? Have you undergone genetic genealogy testing yourself? Were you surprised with the results? Did the results help you break through any of your brick walls or solve a family mystery? You founded DNA Heritage in 2003. What led you to create the company? Can you also tell us a little bit about Ybase?

Alastair Greenshields: I got started in genetic genealogy back in 2002. My mother had been researching the family line for many years and this new DNA thing looked promising in connecting lineages up, untangling them, and proving if the paper trails were correct. After so much invested in paper research it was a sensible idea to check using a different method. A company in the UK was contacted, swabs were sent out and samples sent in. Results came back but it was very hard to work out how people were related. As the scientist in the family I tried my best in interpreting them but came to the conclusion that the 10 markers that we were tested upon weren’t enough for any accurate comparison.

I looked around at the current research at that time and came to the conclusion that the test could be made far more accurate. Working alongside a university research lab, I developed a 21-marker Y-chromosome STR test and brought it to market. While the test was in development, I also created Ybase which helped people compare results more easily (at the time there were only in-house databases). That first year of Ybase allowed me to get fully-acquainted with the many different types of questions genealogists wanted answered and put me in good stead when DNA Heritage was officially launched.

The testing into our own family line is ongoing…

Have I been tested? Many times. My own DNA is often one of the guinea-pig samples for the tests that we do. Surprised by the results? I have an open mind undertaking any test – a better word would be intrigued. It’s a source of satisfaction when customers feel the same way; and if it gets people thinking how we are all connected and part of a bigger picture then I’m happy.

TGG: In light of the recent ethical issues raised by the launch of companies like 23andMe and deCODEme, have you noticed any increase in concern by either European or American customers?

AG: There is of course differentiation between genetic genealogy tests and medically informative tests. Companies providing direct-to-consumer health tests have been around for some time; 23andMe and deCODEme are simply getting a lot of media focus right now. The SNP chips used have been available for a while but when you have a lowering of cost, two competitors fuelling the media interest and combine that with a big marketing push, they are naturally being widely discussed about. I think the valid concern of most ethicists is the volume of potentially medically-informative genetic data provided vs. our current understanding of what it all means along with what impact it has on the individuals concerned. And then add to this the desire of many customers to want to share this data with others.

Prevention is less expensive than treatment. An environment where people are more savvy about their health is obviously desirable. But we are still in our infancy of our understanding. When a journal comes out with ground-breaking research on a link between genetics and physical condition, it is often tempered with conflicting results months later. So there has to be a balance on the interpretation of results and expectation by the customer. Companies understand this but ethicists do an essential job of pointing out the need for this balance.

One harder stance is taken by the State of New York in that a doctor is required as an intermediary for their residents, even for paternity testing. This view isn’t shared by other states and so maybe this is the start of the trend, but more likely that NY will relax their own regulations. Incidentally, because of the nature of our own tests, no intermediary is required.

In all, the genetic cat is out of the bag and people knowing more about their genetic selves will increase dramatically in the years to come. Personalized medicine will make a big impact. It’s the medical unknown of what it all means which raises doubt.

The sharing of this data raises issues also. Do you share just the conclusions that e.g. you may have a pre-disposition to Celiac Disease, or do you share the hard data for which not everything is known? On the whole, the participants are self-selecting, do their homework and are quite aware that the data may reveal other genetic information later on. It’s the sub-section who aren’t fully aware that need protection. And this is the crux.

In genetic genealogy, the picture is much clearer. The results aren’t medically informative*. The results of a Y-chromosome or mtDNA test won’t even identify you as an individual. They are good for known lineages and thus, to make sense of them it works best if results are shared, particularly the Y-chromosome STR test.

*There are two exceptions; very rarely a DYS464 on the Y-chromosome is not present which may indicate infertility (although never encountered by us in several years of testing), and with whole mtDNA sequencing when you venture into genes you reveal medical information. Which is why we don’t perform that full sequencing test.

If there are any differences between American and European customers regarding their genetic data at all it has been on privacy and the perceived threat from insurance companies and employers. In the US, there was always the overhanging question of medical genetic data being used against them. With the (impending) passing of GINA, the basis for this worry will be minimal. And again, because of the tests that we do, any issue has been negligible.

TGG: What do you think the future holds for genetic genealogy?

AG: Always hard but as ever, genetic genealogy will continue to be more mainstream. We’re now seeing many more professional genealogists using it alongside their library research with great results. I’m sure that one day DAR and SAR will begin to accept lineage data as acceptable evidence for inclusion.

TGG: Thank you, Alastair, for a great interview!

Other posts in the TGG Interview Series:

Interview Series III – Terry Barton

imageTerry Barton is co-founder of WorldFamilies.net (along with Richard Barton), a website devoted to helping genealogists host Surname, Geographic, or Haplogroup Projects and learn more about genetic genealogy. When I began the Bettinger Surname DNA Project, Terry helped me through the entire process of setting up the site. From the WorldFamilies website:

“Terry is co-founder of WorldFamilies.net, President of the Barton Historical Society (BHS) and Co-Leader of the 193 member Barton DNA Project. He is the “Line Leader” for the Thomas (1,2,3) Barton family of Stafford Co VA and for the David Barton married Ruth Oldham family. He has made a number of presentations about using DNA in Genealogy, the Barton DNA project and his great-grandparent’s “Barton House” and has written many articles for the BHS Newsletters and website.”

In the following interview, I ask Terry about his introduction to genetic genealogy, the origin of the World Families Network, and his thoughts on the future of genetic genealogy.

The Genetic Genealogist: How long have you been actively involved in genetic genealogy, and how did you become interested in the field?

Terry Barton: I got involved in genetic genealogy in 2001 as assistant admin for the Barton Surname Project – when it was formed. We worked with BYU’s Center for Molecular Genealogy – which eventually became Relative Genetics. Our first two rounds of testing were in “batches”, with 52 men in the first batch and 42 in the second. I became the lead admin with batch 2 and have led the project since then. I was already actively researching my ancestry by traditional means and was President of the Barton Historical Society, leading that group into becoming the sponsoring organization for the Barton DNA Project.

TGG: Have you undergone genetic genealogy testing? Were you surprised with the results? Did the results help you break through any of your brick walls or solve a family mystery?

TB: I am personally tested on 116 yDNA markers, the available SNPs and the Full mtDNA Genetic Sequence. I have tested my son to the same 116 markers (we match perfectly) However, my Dad and I each started a mutation (his is at DYS388, while mine is at DYS452) So, I am 41/43 when compared to my Uncle. I use this example to explain how you can’t count mutations to determine how closely related you are to someone. I was pleased to identify the probable ancestral home of my Bartons as Lancashire and the probable home of my mother’s Hodges family as Kent. My Bartons appear to be the Celts and my mother’s Hodges to be the Frisians (both conclusions are still tentative) I have also learned that most southern American Bartons are my genetic kin and that a number of the southern American Hodges are my genetic kin. I have dna tests for another half dozen of my ancestral lines and mtDNA FGS tests on my Dad and Wife. There are too many success stories across this range of testing to share here.

TGG: You are one of the co-founders of the World Families Network. How did the site come about, and what are its goals?

TB: My partner, Dr. Richard Barton (also co-admin of the Barton Project) is my genetic kin – we found each other through the project. Our most recent common ancestor was born no later than c1620s – we have no paper trail connection. (Rich is a 43/43 match to my Uncle) We used Rich’s website leadership to help us address our early project weakness of low internet visibility and started thinking in early 2004 about how we could share our learning with other surname projects who needed information and/or website help. Over the course of 2004, we evolved into much of what you see today, providing an array of helpful information and supporting many surname projects in a variety of ways. Our goal is to provide an array of useful services to the Genetic Genealogy community – and to have fun doing it.

TGG: What other genetic genealogy-related projects are you involved with?

TB: I am lead or support admin for over 50 of my ancestral surname dna projects. In many cases, I have evolved to being only the technical advisor or support, while I (or our staff) provide leadership for many more of the projects than I wish (which means I haven’t found the right cousin to get involved). I love the connections I’ve made and am constantly amazed at how many folks will go out of their way to help me – or to share info with me. I also co-lead the Va-1600s geographical projects and the mt-T1 haplogroup project and am one of four admins on the T_FGS research project. I am webmaster and founding board member of the Journal of Genetic Genealogy, serve on the Board of the Cobb County Genealogical Society and a member of ISOGG. I continue as President of the Barton Historical Society and am a founding member of the Hodges-Hodge Society, which came out of the Surname dna project it now sponsors. I speak regularly on genetic genealogy. I probably missed something.

TGG: What do you think the future holds for genetic genealogy?

TB: When I started in 2001, 12 markers was a lot! By the time Barton (finally) got our first batch of results in 2002, we received info on 23 markers – which was incredible. I used to think 100 markers and 100 members would bring all of the answers (neither did). When I look to the future and try to imagine – I really can’t identify specifics – other than to anticipate that we’ll know so much more than now. I realize that we are building the foundation for that future and hope that those who follow appreciate what we have done (as they laugh at the primitive info and understanding that we had “way back in 2008″. )

My personal quest is to develop enough learning through dna to replace the lost paper trails. I don’t know if that will be possible – but I intend to keep trying.

TGG: Thank you, Terry, for this terrific interview!

Other posts in the TGG Interview Series: