by Beth Balkite
Beth Balkite is a graduate of Sarah Lawrence College program in Human Genetics and has been a certified genetic counselor for over 30 years. Her career has been one of firsts: the first genetic counselor to work in a community hospital, one of the first to work in industry, the first executive director of American Board of Genetic Counseling, and the first Interim Director of a genetic counseling program. She is currently an emeritus member of the National Society of Genetic Counselors, and a part-time educator in genetics and genetic genealogy.
Two years ago I became one of 4 million people who have sent a saliva sample to a direct to consumer (DTC) genetic ancestry testing company. In fact, I tested at three: Ancestry, 23andMe, and Family Tree. My ethnicity results were similar from all three, but because the companies each use a unique Ilumina chip, the percentages of each ethnic group were slightly different. 23andMe was the most informative. I delved into genetic genealogy testing to help me learn more about my family after I drew my own three-generation pedigree one day and soon realized I could not get very far. My mother has some dementia and my father and his one sibling died years ago so I had no one to interview. I could draw some of the circles and squares for the maternal side of my family, but my father’s side was nearly blank. He was a very reserved person and only spoke sadly about his mother dying when he was young. I had always been told his ancestors were German and that my mother’s were Irish.
Imagine my surprise when my results indicated I was 47% British! Not only that, I also had many DNA “matches,” first through fourth cousins I never knew about. Over time I contacted some of them, and a first cousin once removed had information about my paternal grandmother Margaret. With her name, I eventually obtained her death certificate and learned she died of an infection in 1921, when my father was only 4 years old (I had been told she died in the flu epidemic of 1918). She was English/Scottish and came from a very large family. I have learned of enough relatives to enable me to draw a four-generation pedigree on both sides of the family.
I have since had my mother’s and my brother’s DNA tested—with their consent, of course. Using third-party tools, such as GEDMatch and various chromosome browsers, I have found segments we share with each other as well as with some newly discovered relatives, giving me more information about my ethnicity and who my ancestors were. I can now trace some traits through the family. I have taken a course in Advanced Genetic Genealogy and learned how to use PowerPoint for phasing DNA segments (“Phasing” may be new to many genetic counselors but we veterans relied on it heavily in the good old days before the widespread availability of DNA tests).
The process has had a profound effect on me. We moved around a lot while I was growing up so we did not have large family dinners or family reunions. I actually felt a bit lost being in a new school every two years and not knowing more than my immediate family. Now I feel as though I have found my roots; my real roots, not information passed on that was inaccurate (Maybe Henry Louis Gates will call me for his PBS show, Finding Your Roots?). I never knew much about my ancestors and now I am planning a trip to Europe to visit the places I know they emigrated from. Also, as a result of my DNA testing I have located first cousins I lost track of as well as new cousins I never knew I had—Margaret had a lot of siblings. We are all sharing memories and enjoying connecting with one another. I have learned why my grandfather changed his surname from Wolf to Bowers, that I have a 5 times great grandfather who fought in the Revolutionary War, and another who fought in the Civil War before returning to his job as a silver engraver for Tiffany and Co. I knew none of this two years ago.
I am just one member of a very large segment of the public who is very interested in understanding their DNA and what it can tell them (as a small measure of the popularity of genealogy I am told that And Bob’s Your Uncle, Bob Resta’s post about pedigree nomenclature, has had more views than the next 10 most popular DNA Exchange postings combined!). Some are afraid of the government or insurance companies getting hold of their genetic information, but most are very curious as to what they can learn about themselves and their relatives. They are very good “Citizen Scientists” according to Blaine Bettinger, a well known genetic genealogist.
Many testers choose to upload their DNA results to Promethease, an internet health information site. Promethease uses SNPedia to predict risk and, in some cases, carrier status for genetic disorders. For example, I learned I am an alpha-1 antitrypsin mutation carrier and am at increased risk for macular degeneration, which my mother has—all for $5. Some of the Citizen Scientists have difficulty interpreting their results from the DTC companies or Promethease and turn to genetic counselors for help.
The popularity of genetic genealogy is a phenomenon genetic counselors can view as a threat or an opportunity. Personally, I believe it is an opportunity to work with a very large segment of the population in a very positive way. When Maureen Smith and I wrote the chapter on “Evolving Roles, Expanding Opportunities” for the textbook A Guide to Genetic Counseling, we did not include Genetic Genealogist as a potential role. But with the recent explosion of widely available ancestry testing and interpretive tools, genetic genealogy is another area where genetic counselors can apply their skills. I continue to learn more about genealogy and genetic health testing. Some days I use my genetics knowledge to provide simplified genomic counseling such as answering questions for people about their ancestry and/or health reports. I also use virtual tools such as GoToMeeting and social media to educate people. Although it does not typically have the profound medical implications of clinical genetic testing, genetic ancestry testing can have significant emotional and psychological impact on users and their families. For example, I may use my counseling skills to help a client share unanticipated information such as mis-assigned paternity, the shattering of family myths, or surprising ethnic affiliations.
This winter a genealogist and I are co-teaching a course at Duke University Continuing Studies entitled “Applying DNA to Your Family Tree.” I am looking forward to working as an educator and teaching this aspect of genetics to those, like me, who are interested in learning more about themselves and their family. Hopefully it will help them and their family members better understand the relationship between genetics and health.
And to think that this all started because I wanted to learn about my grandmother Margaret.
Some links of interest:
2016 Best Genealogy Software Reviews: http://www.toptenreviews.com/software/home/best-genealogy-software/
PC Magaine – Best Genealogy Software and Services for 2016: http://www.pcmag.com/article2/0,2817,2403077,00.asp
Reunion software for MAC http://www.toptenreviews.com/software/home/best-mac-genealogy-software/reunion-review/
DNA, Ancestry Testing and You by Brianne E. Kirkpatrick: http://nsgc.org/p/bl/et/blogaid=405
Post to DNA Exchange by B.E.K.: https://thednaexchange.com/tag/genetic-genealogy/
WatershedDNA website: http://www.watersheddna.com/
The International Society of Genetic Genealogy website: http://www.isogg.org
The Legal Genealogist blog: legalgenealogist.com
DNA Xplained blog: http://dna-explained.com