genetic testing


John Greally on Epigenomics

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.

Ambry Genetics on New RNA Testing

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

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.

Matt Fender

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.