genetic counseling

Color Genomics burst on the scene in 2015, offering breast cancer susceptibility testing at a fraction of the price of other laboratories.

From the beginning, it was clear that their goal was to scale the availability of genetic testing – including genetic counseling. This approach has drawn some skepticism and it has also drawn some competitors. Their experience with scaling the return of results, says VP of Research and Scientific Affairs Alicia Zhou, seemed like a natural fit with the aims of All of Us, the population screening program funded by the US government. The NIH apparently agreed, giving Color the contract to build out an infrastructure for genetic counseling as All of Us begins its 10-year process of giving back results to participants.

Alicia joins us on the Beagle to discuss Color’s core business ($50 cascade screening? Is that… sustainable?) and some of the new challenges and whether or not they’re hiring…

Rayna Rapp is Professor of anthropology and an affiliate at the center for disability studies at NYU.

Laura welcomes Rayna Rapp, feminist, medical anthropologist and all-around sage, who has worked for decades in the study of the social impact of prenatal genetic testing. Her 1999 book, "Testing Women; Testing the Fetus; the Social Impact of Amniocentesis in America," is a classic that has influenced generations of genetic counselors.

Families and individuals dealing with mental illness have lots of questions about genetic testing. Does it work? Can it help doctors choose the right course of treatment? Can it predict who is likely to get sick? Are the tests they are selling on line today the real deal?

Families have questions – do we have answers? Jordan Smoller, professor of psychiatry at Harvard Medical School and director of the Psychiatric and Neurodevelopmental Genetics Unit in Mass General's Center for Genomic Medicine, joins us to discuss the genetic testing options available right now and what might be coming down the road with implications for prediction, diagnosis, or treatment.

Elissa Levin was one of the first genetic counselors to work in the direct-to-consumer sector, starting at DNA Direct (remember that?); she’s been at Illumina-spinoff Helix for about 3 years. Helix runs a DTC marketplace, offering an the all-purpose DNA test (exome plus microarray) that can be queried by any of their testing partners. Now Helix has partnered with PerkinElmer to produce a new entry for its own marketplace -- the PerkinElmer GenePrism test.

Amy Sturm is the head of cardiovascular genomic counseling at the Genomic Medicine Institute at Geisinger, that surprisingly cutting edge in the middle of nowhere (I’ve been there; trust me). Amy, a cardiogen pioneer for almost 20 year (cue Amy, gasping) is also the current President of the National Society of Genetic Counselors.

Wendy Chung (MD, PhD) is the Kennedy Family Professor of Pediatrics in Medicine at Columbia University… and the Director of the Pediatric Neuromuscular Network Molecular Core, the New York Obesity Center Molecular Genetics Core, Columbia’s Clinical Cancer Program and DISCOVER program and…really it never ends. The busiest woman in genetics takes a few minutes out to talk to us about her early dreams (agricultural science; I kid you not) and the focus of some of her earliest human work: the all-too-human subject of genetics and obesity.

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.

Everyone says we need more genetic counselors, but few people have put as much time and effort into creating them as MaryAnn Campion, current co-director of the Master’s Program in Human Genetics and Genetic Counseling at Stanford University. MaryAnn has a doctorate of Educational Leadership and Policy from Boston University, where she was also the founding director of the BU genetic counseling program.

So it comes as a bit of a surprise that MaryAnn does not think we need to be so aggressive about growing the field.

She is thinking about what it will mean to lead the NSGC in the politically tumultuous climate of 2020. Will NSGC get involved in political battles if the outcome will affect access to care? MaryAnn claims that they have been and will be “strategic.”

Rachel Adam’s life took an unexpected turn 11 years ago, when her son was diagnosed with Down syndrome shortly after birth. Her memoir, Raising Henry, is a deeply thoughtful and eloquent look at her own experience as a mother and her introduction into the Down syndrome community. She shares some of that eloquence with us, and talks about the challenge of being both a staunch believer in the right to choose, and an advocate for not only her son, but the whole concept of Down syndrome as an example of “healthy disability.”

Here is the link for Lettercase, the site that Rachel mentions that offers the excellent resource Understanding a Down Syndrome Diagnosis in several languages.

Here’s Henry at Halloween, dressed (obviously!) as Gaston from Beauty and the Beast. Henry, we have on good authority, knows every word of Beauty and the Beast. Also, his mother informs us, he tends to like the villains…

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.