genetic counseling

Racism and Genetic Counseling with Aishwarya Arjunan and Carrie Haverty

Aishwarya Arjunan of Myriad’s Women’s Health and Carrie Haverty of the biotech start-up Miroculus join Laura to discuss dialogues that have cropped up recently on Twitter and in other places against the backdrop of a moment of national reckoning on how racism past and present shapes our society.

Our own accounting includes a look at how exclusion and mistrust have made genetic medicine less effective for some populations than others, how practice can mitigate or perpetuate those inequities, and how to make our field more diverse and welcoming for under-represented groups.

Gillian Hooker on HR3235

“It’s been a crazy time,” says Gillian Hooker, of the first 5 weeks of her year as President of the National Society of Genetic Counselors. NSGC is attempting to rally support around HR3235, a long-discussed and long-promised federal bill that would permit CMS to recognize genetic counselors as medical caregivers for the purposes of billing, that FINALLY made it to Congress in 2019. A possible wrench in the gears? ACMG announced last month that it cannot support the bill as written.

Why not? Will it matter?

Gillian comes on The Beagle to answer our burning questions (and to tell us to play nice…).

Alicia Zhou

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

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.

Jordan Smoller

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

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

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

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

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.

MaryAnn Campion

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.”