genomic medicine


Is Luna Genetics a Game Changer? Ron Wapner on Prenatal Genetics

Ten years ago, prenatal testing was revolutionized by the introduction of non-invasive testing, which improved the positive predictive value of testing while reanimating concerns that have dogged reproductive genetics from the get-go: what should we test for and who should decide? Now, start-up Luna Genetics has announced its arrival, bringing to market the first non-invasive test that will look at intact cells from the fetus (well, the fetal placenta). Will Luna upend the prenatal testing market once again? NIPT took a hit with a critical front-page article in the NY Times last week. Does Luna represent another blow?

Joining us to answer these questions (and others) is Dr. Ron Wapner, Director of Maternal-Fetal Medicine at Columbia Presbyterian Hospital in New York. Ron has been a pioneer in reproductive genetics, having witnessed and participated in the evolution of the field, and he is a member of the Luna Genetics Scientific Advisory Board.

Jodie Ingles on Cardio Genetics

Today we reach out across closed borders to Australia for a chat with Jodie Ingles, one of the first people anywhere in the world to focus on cardiogenetic counseling. Jodie talks to us about how the field has changed in the last 17 years, and where we are headed next.

Euan Ashley on The Genome Odyssey

Euan Ashley has had a front row seat at the genomic revolution, and in his new book The Genome Odyssey he invites us to sit alongside him and watch the show. Even if you lived through it, you won’t believe how quickly things have changed!

Ashley invites a reader to rediscover the decade when genomic medicine was born, its triumphs, and its inadequacies. Come for the n-of-one patient stories, stay for the great Scottish accent! A self-described technophile and a pioneer of data-driven medicine, Euan comes across mostly (and ironically, for a cardiologist) as a guy with a big heart.

Kyle Brothers and Mildred Cho: How to Talk about Race in Designing Genetic Research

If you are a clinician, researcher, or editor working in genetics, you are probably aware of the toxic history of our field with regard to race. And (JAMA editors aside, apparently) you are probably aware that this is not just a historical problem, but something affecting medical practice today. How do we move forward in a fashion that is not racist – or, better yet, anti-racist?

How do we start to dismantle the pervasive legacy of racism? A recent article in GIM by Kyle Brothers, Robin Bennett, and Mildred Cho took on this challenge, laying out an 8-principle guide for how (and how not!) to talk about race in designing and reporting on genetic research. Today on the Beagle, University of Louisville Professor Kyle Brothers and Stanford University Professor Mildred Cho join me to talk about their proposal.

Heidi Rehm

Geneticist Heidi Rehm of Harvard Medical School and the Broad Institute has helped develop many of the tools that are fundamental to our ability to harness genomic variation for medical care: ClinGen, ClinVar, Matchmaker and others. Heidi has been called “a pioneer of open science and data sharing.” Today she joins us on the Beagle (a Corona-free zone) to talk about the remarkable extent, in the midst of an era of competitive and market-driven science, to which the field of genomics has been able to develop not only the tools but also the will to collaborate in the pursuit of better patient outcomes.

Penny Wolfson and Ansel Lurio

Penny Wolfson’s book, Moonrise, grew out of her experiences after the diagnosis of her oldest son Ansel Lurio with Duchenne Muscular Dystrophy.

Today Ansel is 34 and his biography far exceeds the limited expectations of the neurologists who counseled his parents when he was a toddler. Penny credits incremental improvements in care for the successes they’ve had to date.

Her message to clinicians? Never assume you know for sure what the future will bring.

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).



Customize This
mendelspod