Allow me to introduce you to Blaine Bettinger. Blaine is a patent attorney who holds a PhD in Biochemistry with a concentration in genetics. He is also a family history enthusiast who writes the Genetic Genealogist blog, where he gives commentary on applications of genomic science for advancing personal and family history research. I first learned about Blaine last May when he announced that he was committing his genomic data to the public domain and challenged any interested parties to analyze it and tell him what they learned. As a scientist, he was aware of the limitations of the technology, but was curious to know if anybody might find something surprising. As an intellectual property lawyer, he expressed interest in the question of whether it was even possible to truly commit one’s genomic data to the public domain. (Anybody who attended ICHG/ASHG in Montreal may have heard some of the debate about whether genomic research data belongs to the researcher, the study subject, the funding agency, or some other entity.) I immediately downloaded the data with grand visions of what I might do with it, but set it aside due to other obligations and forgot about it until rediscovering it just a few weeks ago.
I contacted Blaine to ask him about his experience since posting his data. He replied that he has yet to receive any real response to his challenge–a result which we both found very interesting in itself. Why hasn’t he received a response? Perhaps the reason is that the field of personal genomics is still in embryonic stages, and there just isn’t very much that we can do with SNP genotype data from a single genome. Indeed, Blaine has already published analysis results very similar to everything that I considered doing with his data. He posted information about his autosomal admixture from multiple tests, suggesting that he is between 84% and 98% European depending on the method used. He posted his mitochondrial haplogroup (Native American maternal lineage) and Y haplogroup (continental European paternal lineage). He posted Promethease reports that give insight into his susceptibility to a variety of traits based on published research. For example, he may have reduced risk of rheumatoid arthritis, but increased risk of type-2 diabetes. To me, family history research and determining disease risk seem like the most probable reasons for a person to pursue direct-to-consumer (DTC) genotyping services, and Blaine has covered those topics fairly well. I was fascinated by the information he posted and decided to take a little bit of time to understand his results and see what else could be learned from his genotypes. Continue reading
