Charles “Chuck” Thornton is a surname and Y-DNA haplogroup researcher. His interests include the Thornton Surname project, the I1d1 (I-P109) yDNA Haplogroup Project, and the P109+_DYS-455=9 Geographic Project.
Question: What do you do for a living?
Answer: I have a Ph.D. in Molecular Biology & Biochemistry and an MBA in Finance & Investments. My career has been focused on the molecular diagnostics of infectious diseases, and my primary interest is in the technologies employed in diagnostic testing. I currently work for a small biotech company in suburban Maryland in Quality & Regulatory Affairs trying to bring regulated, in vitro diagnostic tests (IVDs) to market (i.e., via FDA review).
Question: What are your other hobbies and interests apart from genealogy?
Answer: Mmmmm… between work, walking the dog with my wife, and house projects I’m happy to be able to have time for genealogy!
Question: What brought you to genealogy? What is your favorite part?
Answer: It was the 12-marker STR test at Family Tree DNA (FTDNA) that brought me to genealogy. I then started chasing my ancestors until I hit brick walls; my favorite part is smashing through a wall with the results of a genetic test from a distant cousin!
Question: How did you become involved in genetic genealogy?
Answer: That was the easy part; it was a natural for me… and once I stumbled on the THORNTON Surname DNA Project at FTDNA, the rest was history!
Question: The need for consumer genetic testing standards has been a topic for years now. To what extent do you think government regulation is needed?
Answer: There are three fundamental questions in there (I know what you’re looking for here, but there are actually three parts… seriously, because of the way you’ve asked me this question!):
Consumer protection/truth in advertising: This component focuses on whether testing companies are providing the services they advertise. There is a place for regulatory authorities to ensure that consumers are protected from unscrupulous business practices… this includes genetic genealogy testing companies.
Genetic testing/medical information: The issue here is the applicability of the information being generated and the claims that a testing company makes in regard to the value of the results for something other than genealogy. The law is reasonably clear in regard to medically relevant information and the government’s role in ensuring the utility of the test and the veracity of the results if they are to be used to treat/diagnose/mitigate a medical condition/disorder/illness (tests used for medical applications are regulated by FDA as “medical devices” … not dissimilar to band-aids, power wheelchairs, or pacemakers). Genetic genealogy companies ought not to be making claims that their results provide any information that can be used, interpreted, construed, or inferred to provide any information of medical significance … and if they are foolhardy enough to make such claims, then they may find themselves running afoul of the regulatory authorities if they don’t have the empirical evidence to support such claims.
Technological standards for reporting results: Finally, we arrive at what you meant: the standardization of the technologies employed to generate the data used to report results and compare people for the purposes genealogy! I saved this for last so that you would understand my answer below in light of my second point above. Since there is no medically relevant information here, the government has no place in the “oversight” of standards development; however, they have a legitimate interest in supporting the research to understand the issues involved in developing standards for such technologies … but supporting such research (e.g., consider the work of John Butler at NIST for standardizing STR calls), is very different from regulating medical devices that diagnose diseases. Whether the claimed use is as a medical device, or for genetic genealogy, the technologies used and the application of standards are identical; however, it is the stated intention of the test’s results as advertised by the company that distinguishes the regulatory paradigm that may/may not apply.
So, should the government be involved in developing standards? Unequivocally yes; it is the commercialization of these technologies as medical devices that drives scientific development, and the Federal Government necessarily needs to be involved with and understand legitimate medical applications of emerging breakthroughs. In addition, the funding that the government provides for these efforts is essential to addressing the most esoteric of questions that might not otherwise be answered, and these inquiries commonly lead to important discoveries. Should the government regulate standards and technologies in molecular biology? Yes, to the extent that these methods are commercialized as medical devices; no, to the extent that these technologies are applied to the hobbyist. However, I doubt that the Federal Government is interested in regulating the latter, but State Attorneys General would be interested in ensuring that deceitful business practices are regulated, and the application of standards has a role therein when applied to testing companies that might use such technologies to defraud consumers.
Question: Do you feel that the responsibility for consumer education lies with the testing companies, the citizen science community, or the consumer?
Answer: Caveat emptor! I’m a big fan of personal responsibility. That being said, I understand (and deal with on a very frequent basis) the lack of understanding that the lay person has regarding molecular biology and genetic genealogy. It is understandable, and I am sympathetic to the classical genealogist that wants to take advantage of genetic genealogy but has neither the interest nor inclination to understand it. I think the testing companies, the genetic genealogy community, and project Administrators all have some skin in the game to try to make it as easy to understand as possible for the Average Joe. Most of the stuff I try to distribute to my group includes some type of generic explanation so the significance of the findings can be absorbed.
Question: What DNA tests have you taken?
Answer: All of them!
Question: Have you tested your family?
Answer: My dad was a HUGE supporter of my interests in genetic genealogy; my mom, not so much. My dad took all the tests before he passed away (mtDNA, Walk-the-Y, Family Finder, 111-STRs). In addition, I have an extended family that is very active in classic genealogy; a large number of them have taken multiple DNA tests (primarily Family Finder).
Question: Have your or your family’s test results ever been a surprise?
Answer: My dad has the mtDNA sequence of Elizabeth Tilley (who came on the Mayflower); we can trace his lineage back to her with documents as well. I’m still working on the origin of his Y-chromosome. I believe that someday the genetic intersection of his mtDNA and Y-chromosome will make a very interesting story.
Question: Has genetic genealogy helped you break through any of your brick walls or solve a family mystery?
Answer: I make it a habit to try to actively identify distant cousins that I can test to prove a paper trail hypothesis or bang on a brick wall. I have many stories using my Y-chromosome and/or the Family Finder test to prove a connection or confirm a distant cousin. I connected with a direct-line male descendant of my 3X-great-grandfather’s brother (he lives in England), tested him using my favorite 12-marker STR test at FTDNA, and confirmed the connection. Similarly, I identified several cousins originating from a THORNTON group in central England and had them tested. We still don’t know our connection, but we certainly share a common ancestor sometime after surnames were adopted (presumably somewhere in Northamptonshire!) My favorite story is an illegitimate great-grandmother and the Family Finder test. We had all kinds of evidence that she was the daughter of a well know boat Captain, but no documents. Enter the Family Finder test and a descendant of the sister of said philanderer … BOOM, genetics don’t lie!
Question: Do you have advice for someone starting out in genealogy or genetic genealogy DNA?
Answer: If you don’t have a good Administrator, learn as much as you can to try to become a good Administrator… then start to enlist as many people as possible so you can get a quorum to start to really be able to apply the power of the technology. My second piece of advice is get as many cheek swabs as you can from your ancestors now… they won’t be around forever, but their DNA will if you can get a cheek swab on it!
Question: What do you think the future holds for genetic genealogy?
Answer: I’m excited to see the collision of the population genetic studies taking place in academia today with the results of the genetic testing companies that enlist the hobbyist – that intersection should begin to allow a phenomenal understanding of human migration patterns. I would love to be able to understand how my I1-P109 ancestor came to be in England, and how my 5X-great-grandfather came to be in Northamptonshire (right next to the Danelaw!) I may never know, but at least I’ll know what I’m looking for if they show up – and then we can trace that genetic signature across the continents and/or oceans, whatever the case may be! Finally, I will be excited to see the databases expand as genetic genealogy becomes more main stream. One’s ability to take advantage of genetic genealogy is only as good as the database of the people that have tested and deposited their results. Hopefully, that will increase dramatically in the future.
Could you please explain all of those charts? 🙂
The “I1-Y3549 SNP Panel” test at FTDNA contains roughly 161 SNPs that will allow someone in the I1-P109 group to place themselves within a P109 subgroup with suburb accuracy. Then using this test the I1-P109 THORNTON group would simply be placed within the FGC14500+ subgroup … and all that’s going to do is tell you that you are a I1-P109 THORNTON … which we could have determined with your surname and the 12-marker STR test! We currently have approximately 60+ people in the THORNTON Surname DNA project at FTDNA. They are very active in genealogy and super supportive of my efforts to understand the genetic structure and history of our THORNTON group (we have some famous colonialists in our ancestry). I have been able to test 15 people with the BigY test to identify critical SNPs. We currently have a SNP panel at Yseq containing 17 SNPs that can be used to test a new participant and identify his ancestor in genealogical time (sort of the Y3549 test, but applied directly to our THORNTON group). We have been able to prove key relationships, and disprove others; we have identified new subgroups, and placed some people in their expected group, but exclude others from claimed ancestry. It’s been an amazing effort, with phenomenal results, and without the support of a wonderful group of THORNTONs, it wouldn’t have been possible.