Genetic Genealogist Dr. Blaine Bettinger on DNA and Genealogy

by Dr. Hsien-Hsien Lei
Posted July 2, 2007 in DNA and Genealogy, Personalities with DNA

How much do you know about your family tree? If you believe all the hype, genealogy is either THE most popular hobby in the US or the second most popular. Before I got to know Dr. Blaine Bettinger of The Genetic Genealogist, I wasn’t all that curious about my heritage but his enthusiasm is so infectious, I’m now considering my options! If you’re thinking of plunging in and taking a genealogy DNA test, you won’t want to miss this interview with Blaine.

Hsien Lei: You have a PhD in biochemistry. Do you think it takes a PhD to understand genetic genealogy? Because I gotta tell you, a lot of the information out there on the genealogy DNA tests is complicated and confusing.

Blaine Bettinger: It really is confusing. My first genetic genealogy test was an mtDNA test, and when I got back the results, I went online to figure out what they meant. All I found was other people who belonged to the same haplogroup, and references to research published in the scientific literature.

So I set out to gather the current knowledge of the haplogroup from all of those papers. Since I was a graduate student at the time, I had free, easy access to these papers as well as the genetics training to figure out (most) of the results. I wrote a quick summary and set up www.HaplogroupA.com to share the information I found.

If I wasnâ€™t a graduate student with a focus on genetics, it would have taken me weeks just to gather the papers, much less read and understand the work. As it was, my graduate work pretty much went on hold for a week while I did my research.

The work in this field is ongoing and constantly evolving. Who knows what will happen to genetic genealogy when cheap and efficient whole-genome sequencing hits the scene. I would love to be able to do a summary of the literature for each haplogroup, and to monitor new research, but it would be a full-time job. I think the companies offering genetic genealogy testing have a strong interest in distilling the scientific information to share with their customers. You wouldnâ€™t believe how many people have emailed me in the last few months stating that they were interested in genetic genealogy but were hesitant to take the leap because they didnâ€™t quite understand what the results would mean.

HL: What test do you usually recommend to people who are new to genetic genealogy? Should they have tried traditional genealogy using private and public records first?

BB: I donâ€™t think people need to have been genealogists for 10 or 20 years before they experiment with genetic genealogy. Some tests, especially mtDNA, reveal information that changes very slowly over time. For instance, I know my great-great-great-great-grandmotherâ€™s mtDNA haplogroup and sequence, but it is extremely unlikely that information will help me identify her unknown mother without a great deal of traditional genealogy and further testing. Instead, I gained insight into the last 20,000 years of my maternal lineage. For hardcore genealogists, such as myself, genetic genealogy can be a fun and informative addition to their traditional genealogy.

If I were going to recommend a genetic genealogy test for a beginner, I think I would suggest the mtDNA test. Both males and females have mtDNA, and thus anyone can take this test. Additionally, the results are usually conclusive (that is, a person is almost always placed into a certain haplogroup). And finally, because of a long history of male-dominated society and records, very little is usually known about a personâ€™s direct maternal line. An mtDNA test can give one some insight into that hidden lineage.

And to avoid a mistake I made, if youâ€™re really interested in genetic genealogy and you have big plans for your results (such as starting or joining a surname DNA project), order a Y-DNA test with as many markers as you can afford â€“ itâ€™s probably cheaper than upgrading to more markers later on!

HL: I think it was Megan Smolenyak who said on her Science Friday interview that people should start with Y-DNA tests first because it’s possible to pair that info with surnames. What do you think of that recommendation?

BB: I think it’s a great point. The Y-DNA test is definitely more useful for people hoping to combine genetic genealogy with traditional genealogy because it can be relevant on a smaller timescale (i.e. since genealogical records began to be recorded), whereas the mtDNA information is a much longer timescale (thousands of years). The only problem is that for females, a Y-DNA test requires that they ask a father, brother, uncle, or a cousin to submit DNA.

I guess this would be my recommendation – if you are interested in combining genetic genealogy with traditional genealogy, a Y-DNA test might give you more information. If you haven’t done much genealogy and are just interested in your heritage, a mtDNA test is a great place to start. Truthfully, I would recommend getting both!

HL: If budget were no consideration, do you think people should take every test available on the market? Why or why not?

BB: A genetic genealogistâ€™s dream â€“ an unlimited budget! In actuality, I donâ€™t think I would recommend that people go out and buy every genetic genealogy test that exists. Some, such as autosomal tests (which test numerous SNPs to attempt to calculate a personâ€™s heritage), are still evolving and have a ways to go before I would recommend them to those on a budget.

Some companies also offer exclusive Native American testing, or sequence the entire mitochondrial genome. I would only recommend this type of test to people who have a specific reason for ordering them. Even I havenâ€™t had my entire mitochondrial genome sequenced â€“ Iâ€™m not sure Iâ€™ll ever need it, and itâ€™s still a little expensive.

On the other hand, a simple mtDNA test and Y-DNA test can be rather inexpensive but full of fun and interesting information.

HL: Who do you think gains the most from genetic genealogy? Are certain ethnic groups more likely to learn valuable information than others, such as East Asians like me?

BB: All ethnic groups can gain useful information from genetic genealogy, since studies have been done with samples from all around the world. Some of the power of genetic genealogy, however, comes from comparing results. For instance, I canâ€™t wait for the day another person with my surname (which is rare) is tested so that I can compare the results. People with common surnames that are well-represented in the public databases have the best chance of comparison. At this point, that usually means Western/European surnames have the best chance. For people with East Asian ancestry, for example, there might be less opportunity for comparison. But one of the best things about genetic genealogy is that as more people get tested, everyoneâ€™s results become more meaningful.

HL: What genetic genealogy tests have you personally taken? Have the results ever differed from what you expected?

BB: Honestly, ALL the results of my genetic genealogy tests have differed from what I expected! My first test was four years ago â€“ I bought an autosomal test, AncestrybyDNA 2.0, from DNAprint Genomics. As I mentioned above, autosomal testing has its caveats. The test examined just 71 markers (the new version offers 175) and revealed that the markers were 88% Indo-European and 12% Native American/East Asian. I wasnâ€™t expecting any Native American ancestry, so the results were surprising.

My next test was an mtDNA test of HVS-I (hypervariable segment) and HVS-II. Iâ€™ve traced my maternal line back to my great-great-great-grandmother, Sarah L. Bodden, born in 1846 in the Cayman Islands. No one knows anything about Sarahâ€™s parents or her life, and given the difficulty in doing research, it was a perfect opportunity for an mtDNA test. I expected Sarahâ€™s mtDNA to be of European origin, but it turns out that it is haplogroup A, which is Native American. I now suspect that the mtDNA is of Central American origin, but to date I havenâ€™t found a single exact match.

My most recent test was a Y-DNA test. My results suggested that I belonged to haplogroup R1b1c9a, a rather rare haplogroup. My paternal ancestry is firmly rooted in Germany, but at the time of my test no one with R1b1c9a had been found with roots outside of England. So once again, my results were not what I expected. I wondered if perhaps a non-parental event had somehow occurred â€“ it is a bit disconcerting for a genealogist to discover that his/her surname research might not be what they thought it was. As time passed, however, more R1b1c9aâ€™s were discovered, including some from the same region of Germany.

It is impossible to predict what a personâ€™s genetic genealogy testing will reveal. Anyone interested in testing should be aware of the possibilities. Despite the caveats, Iâ€™ve loved my experience with genetic genealogy and I highly recommend it to all of your readers.

Note: Blaine writes more about unexpected results in his post – Genetic Genealogy and Non-Paternal Events.

Thank you, Blaine, for teaching us more about genetic genealogy! It’s a burgeoning field that appeals to both scientists and non-scientists alike. After all this time, I’m starting to feel the itch to try one of these genealogy DNA tests myself. Will keep you all posted when I go through with it.

Have you taken a genealogy DNA test? Tell us about your experience!

Tags: genetics, genes, dna, genetic genealogy, genealogy, blaine bettinger