genetic testing

Pharmacogenetics testing: where are we today? Kristine Ashcraft, CEO, and founder of YouScript, a translational PGX start-up that Invitae recently acquired, joins us on the Beagle to discuss why it has been so hard to get the ball rolling on PGX testing. Kristine, who was called one of the 25 leading voices in precision medicine by BIS Medicine in 2019, lays out a roadmap to the integration of PGX testing into routine clinical care.

A conversation with Dan Navon, associate professor of sociology at the University of California, San Diego, and the author of Mobilizing Mutations: Human Genetics in the Age of Patient Advocacy. Dan’s book encourages us to pay attention to the subtle way in which defining conditions according to their underlying genetics affects the patient experience, from shaping identity to creating a sense of solidarity within disease communities. Plus (spoiler) Dan will explain why he calls genetic counselors the ‘secret heroes’ of his research.

Increasingly, algorithms and computing power are combining to turn us into both the sources and the subjects of big data. Professor Anya Prince from the University of Iowa College of Law, an expert in genetics and the law, joins us to explore the twin threats of genetic discrimination and loss of privacy in an age of SO MUCH genetic data.

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.

Laura talks today with John Greally, a pediatrician and epigenomicist with appointments in Medicine, Pediatrics and Genetics at Einstein Medical Center in the Bronx. John is the founding director of Einstein’s Center for Epigenomics, and an innovator who has looked hard at how to improve the integration of genetic testing into clinical practice.

Note from the Host: I’d like to mention here that this interview was taped at a very particular moment in time, as New York City was struggling to recover from the horror that was April 2020, and just prior to the public execution of George Floyd and ensuing movement for social justice in the U.S. and abroad. I chose not to publish this interview in the weeks immediately following Floyd’s death, given the emotional and political significance of the protests and the importance of the resultant public dialogue. Listening to this interview today, it feels strangely dated for a conversation that took place only weeks ago. What can I say? The world moves fast sometimes.

Laura starts out the decade chatting with genetic counselor Holly LaDuca and Rachid Karam, Director of Ambry Translational Genomics Lab, about Ambry’s paired DNA/RNA cancer susceptibility test, which was introduced in 2019. What can RNA testing do to improve detection and interpretation of variants today? And where will it take us next?

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.

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.