genetic counseling

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.”

Rachel Adams

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…


Brianne Kirkpatrick

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 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.

Erica Ramos

Ever since she was a small child, Erica Ramos dreamed of being president of NSGC …

Okay no. Erica talks about her path to the presidency, her least favorite thing about the job, and why she has trouble staying on message (ps she seems pretty on message to me). Plus, breaking news on the Beagle! Erica describes NSGC’s new diversity initiative, and what diversity means in the context of an organization of genetic professionals… spoiler alert: it’s about being inclusive of thought, experience and culture, and NOT about your genes. But is it about Y chromosomes?

I ask Erica about her recent move from Illumina to Geisinger Health Systems in Danville PA and guess what? It turns out that she has moved in spirit but remains in San Diego for now… Meanwhile, Geisinger’s CEO has declared that “some day is today” and launched their free clinical exome program. What does that look like IRL? Erica fills us in.

Finally, Erica promises us the biggest annual conference ever this year in Atlanta (not that she’s competitive or anything).

Carl Zimmer

Carl Zimmer is a master at describing the sort of shiny objects that obsess the sci-curious: children that leave neurons behind in their mother’s brain, mice that pass memories down in their sperm, his own Neanderthal DNA. But the heft and depth of his new book, She Has Her Mother’s Laugh (and it is a hefty tome!) is that the shiny objects are merely the way in to big, complicated stories told in straightforward, engaging prose. So the tale about the giant’s bones turns into a discussion of the thorny topic of calculating heritability. And that crazy mouse experiment? Carl bravely tackles the contentious debate between epigenetic researchers and their naysayers.

Bob Resta

Welcome to Episode #1.

Bob Resta turns an anthropologist’s eye on genetic counseling, from the arrival of amniocentesis to current issues stemming from routinized testing and conflict of interest. He’s not the Founder of Genetic Counseling, but he may be the field’s foremost Grumpy Uncle.

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