DTC testing

Libby Copeland is a prize-winning science journalist who has written for the Washington Post, New York Magazine, the NY Times Magazine and, the Atlantic, among others. Her new book, The Lost Family, looks at how the development of DNA databases for genealogy and ancestry testing have affected the lives of millions of Americans, creating and reorganizing and sometimes destroying families, while raising profound questions about the meaning of all manner of kinship networks: family, blood, tribe.

Libby spends a little Corona-free time with Laura to discuss what she learned from the people whose stories fill this book, and what new rules and norms are called for in an age of DNA transparency.

Ellen Matloff has one of the most unique stories in genetic counseling today. She worked at Yale to found the cancer counseling program in the early days of that discipline and was an early and highly visible voice in the battle against gene patenting. Eventually, her experience with the expanding presence of cancer susceptibility testing led her to found a business that attempts to provide a low-cost, scalable option to fill in the informational gaps for individuals who’ve had genetic testing.

If you survey genetic counselors about direct-to-consumer genetic testing (and we did!) you will find that most of them think that DTC customers should receive genetic counseling. At the same time, most of them say that they wouldn’t feel comfortable doing the counseling… In 2016, Brianne Kirkpatrick Williams set up Watershed DNA for just this purpose. In this interview, Brianne discusses the challenges and satisfactions of entrepreneurship and being a pioneer in the DTC genetic testing era.

In December 2017, Matt Fender ran his 23andMe raw data through Promethease, a third party DNA search engine that provides an inexpensive personalized list of annotated SNP’s. At the top of Matt’s report was a box banded in red that said “pathogenic” and “PSEN1” and “early onset Alzheimer’s disease.” At 32, Matt believed that dementia was only a few years off – on bad days, he thought perhaps it has already begun. He agonized over how to tell his family. And he discovered that when it came to DTC genetic testing, the instructions “consult your doctor” might be easier said than done.

And then he found out it was all a mistake.

On September 15th, 2018, Matt’s story was featured in the NY Times. On this episode of The Beagle Has Landed, Matt explains why he remains an ardent believer in the power of genetic testing to take charge of your own health, and what he thinks we should learn from his false alarm.