The Beagle Has Landed Podcast

  Beverly Gage, Yale professor of American History and author, is more likely to be found on podcasts discussing her new (and wildly acclaimed) biography, “G-Man: J. Edgar Hoover and the Making of the American Century". But in 2019 her life took an unexpected turn, as a chance encounter with a plant kickstarted what turned out to be a rare disease that had – inexplicably – lain dormant for 40 years.   She's not just a zebra, as Beverly explains in her recent New Yorker article, she's a zebra with polka dots.

Deven McGraw, lead for Data Stewardship and Data Sharing at Invitae, joins Laura to discuss how government and industry can best secure your right to access your own health data while keeping it secure from unwanted exposures. Deven's broad range of experience makes her the person to answer those burning questions about how to keep our data safe - and accessible.

Today's podcast features Adam Rutherford, a geneticist trained at University College London who has spent much of his career as a science communicator: as an editor at Nature, as a radio and television commentator for the BBC, and as the author of such books with delightful titles, including "Creation: the Origin of Life/The Future of Life and A Brief History of Everyone Who Ever Lived" and "How to Argue With a Racist".

In a field full of amazing people, no one --- no one -- is more remarkable than Sharon Terry. And this is despite (or perhaps because of) the fact that she is not, technically, in the field at all: Sharon Terry is, as her bio describes her, “just a mom with a master's degree in theology.” Sharon's personal story of a journey from the worst form of heartbreak and disempowerment – the discovery that both of her young children had a rare genetic disease with a bad prognosis – to become a role model for parent activists everywhere.

Noura Abul-Husn got her MD and PhD from Mt Sinai in NYC, where she later served as the first clinical director of the Institute for Genomic Health and Chief of Genomic Medicine. Today, she is Vice President for Genomic Health at 23andMe. She joins us here on the Beagle today to discuss the state of translational efforts in genomic medicine and look at some of the barriers to the integration of genetics into routine clinical care.

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.

The dismantling of the right to abortion established under Roe v Wade has left many clinicians angry, uncertain, and in dire need of legal advice. If that describes you – speak to a lawyer! Don't get your legal advice from a podcast, you silly goose. But first: you might want to listen to this conversation with Stanford's Michelle Mello, a law and health policy professor.

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.

Allison Kurian is Director of the Stanford Women's Clinical Cancer Genetics Program, with a practice that centers on women at high risk of breast and gynecologic cancers. Trained in internal medicine, oncology, and epidemiology, Allison has embraced genetics (a fourth specialty!) as a tool for early detection and risk stratification. Ten years after ACLU v Myriad changed the landscape of genetic testing overnight, how far have we come, and where are we headed next?

What if, someday, your doctor could order a single test able to screen for over 50 types of cancer? What if, someday, you had an effective screening option to offer patients identified with cancer susceptibility syndromes? What if, someday, we had a way to catch killers like lung, pancreatic and ovarian cancer early, when treatment was still an option? What if that day were today?

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.

Today on The Beagle, one of the rock stars of the genetic counseling field, Jehannine Austin, Professor of Medical Genetics at the University of British Columbia. Jehannine has pioneered the field of psychiatric genetic counseling and, more broadly, they have worked energetically for decades to make psychiatric genetic counseling – and all genetic counseling -- an evidence-based discipline.

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.

22Q11 Deletion Syndrome – the most common version of a rare thing, affecting close to 1 in 1000 births – is no picnic for genetic counselors. Presentation is complex and unpredictable and can include structural, developmental, and behavioral manifestations.

Hannah Llorin is a reproductive genetic counselor at Brigham and Women's Hospital in Boston, and Kim Zayhowski is a cancer genetic counselor at Boston Medical Center and a faculty member at the Boston University Genetic Counseling Program.

Today the Beagle welcomes Amy McGuire, Professor of Biomedical Ethics and Director of the Center for Medical Ethics and Health Policy at Baylor College of Medicine. Amy, a nationally-recognized expert in the legal and ethical issues associated with genomic medicine, joins Laura to discuss BabySeq and the high-risk, high-reward prospect of making genome sequencing of newborns routine.

Kathryn Paige Harden is a professor of psychology at the University of Texas, where she leads the Developmental Behavior Lab and co-directs the Texas twin project.

Colleen Caleshu, Senior Director of Research at GeneMatters, received the Jane Engleberg Memorial Foundation Fellowship in 2019 for a randomized controlled trial of meditation to improve genetic counselor professional well-being. She received the best abstract award at the 2021 NSGC Annual Conference for part of this work. Colleen is a Ph.D. candidate at Leiden University and a genetic counselor who specializes in cardio genetics and kindness.

Today, Laura speaks with Barbara Harrison, Assistant Professor at Howard University (and 2020 NSGC Natalie Weissberger Paul National Achievement Award winner) and Katie Stoll, executive director of Genetic Support Foundation, about the new guidelines from ACMG on expanded carrier screening: how these changes move the field forward, and how they fall short.

A cardiologist and Professor of Medicine at the University of Pennsylvania Perelman School of Medicine, Kiran Musunuru is a clinician and a researcher whose important work has moved the ball forward on gene therapy. As co-founder and scientific advisor to Verve Therapeutics, Kiran has a special perspective – an insider's view of the business, from someone who is both an academic (MD, PhD, MPH) and a humanist at heart.

The legal landscape for abortion is changing rapidly, and in ways that will inevitably affect genetic counseling practice in many states. Joining Laura to discuss the new laws and the role that NSGC can play – if the organization decides that protecting reproductive rights is a priority for its membership-- is Jordan Brown, assistant Director at the genetic counseling program at the Ohio State University, vice chair of the NSGC Public Policy Committee, and a member of the newly formed NSGC Task Force looking at the challenges to reproductive rights.

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 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!

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?

Walter Isaacson, who has written biographies that explore the birth of the atomic age (Einstein) and the digital age (Jobs), now turns his attention to the biotech revolution, as embodied by CRISPR pioneer Jennifer Doudna with his new book,

I can hardly believe I’ve been doing this podcast for more than 2 years and never had Hank Greely on before. Hank Greely is the Deane F. and Kate Edelman Johnson Professor of Law at Stanford University, and Director of the Center for Law and the Biosciences. When you want an opinion on anything at the intersection of law, policy, and bioethics, Hank is where you go. And I want an opinion on everything at the intersection of law, policy, and bioethics. Luckily, Hank’s new book, CRISPR People, brings him on the podcast today.

There’s no overstating how far we have come since 2000 in the fledgling science of genomics, but at times it has seemed that our ability to amass information has far outstripped our ability to make that information matter by improving healthcare. As extraordinary as the technology is, it cannot get it out of the computer and into clinical practice. Enter Eimear Kenny and Noura Abul-Husn, respectively Founding Director and Clinical Director of the Institute for Genomic Health at the Icahn School of Medicine at Mount Sinai in New York.

Diana Bianchi began her career in genetics so long ago that she needed to make one thing clear: “I’m not that old. I just started young.” And it’s true! Diana fell in love with the study of chromosomes back in high school and returned to it as a pediatrician and a specialist in neonatal medicine. From the start of her career, she has been absorbed in the question of how to pull information on the fetus from the maternal bloodstream.

Rosemarie Garland Thompson is a professor of English and Bioethics at Emory University. She has been called a “thought leader” in disability studies. She is co-editor of About Us: Essays from the New York Times about Disability by People with Disabilities. She is here today to discuss disability rights in the light of prenatal genetic testing.

Heather Hampel, one of the pioneer genetic counselors in the realm of cancer counseling, has been leading the charge on Lynch syndrome screening for over 20 years. Whatever your leadership metrics, Heather ticks them: multiple publications, past president of ABGC, PI of the Ohio Colorectal Cancer Prevention, Professor in the Department of Internal Medicine and Associate Director of the Division of Human Genetics at the Ohio State University.

Today’s podcast features Adam Rutherford, a geneticist trained at University College London who has spent much of his career as a science communicator: as an editor at Nature, as a radio and television commentator for the BBC, and as the author such books with delightful titles, including "Creation: the Origin of Life/The Future of Life" and "A Brief History of Everyone Who Ever Lived." Adam joins us to discuss his timely and excellent new book, "How to Argue With a Racist."

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.

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.

David Goldstein is a self-described “geneticist for hire.” It’s been five years since he arrived in New York as the inaugural director of the Institute for Genomic Medicine at Columbia University Medical Center, and despite his California roots, the city has adopted David as a native son (no, seriously, he is often mistaken for a native New Yorker. Why? I have theories…).

Libby Copeland is a prize-winning science journalist who has written for the Washington Post, New York Magazine, the NY Times Magazine and, the Atlantic, among others.

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.

Prenatal testing was a normal part of life for UCSF cardiologist Ethan Weiss and his wife when they were expecting their second child, something you did without a second thought. But thirteen years after the birth of Ruthie Weiss, Ethan has plenty of second thoughts about assumptions people make – assumptions he would have made – about the relative burdens and benefits of a life with a different set of challenges. Would Ruthie’s life be better with her albinism? Would their life as a family be better? Would society be better off without Ruthies? Definitely not, says Ruthie’s dad.

“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?

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?

Color Genomics burst on the scene in 2015, offering breast cancer susceptibility testing at a fraction of the price of other laboratories.

As we get underway with All of Us, the huge tax-payer funded project to assemble a database or genomic and medical information on 1 million Americans, there are people working hard to make sure it fulfills two founding principles. First, to treat participants like partners (and this means giving them access to the results). And second, to make sure this effort leaves no one out.

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?

Kif Augustine-Adams is the Ivan Meitus Chair and a professor the Brigham Young University J. Reuben Clark School of Law whose work has focused on protecting immigrant women and children. A feminist and advocate with an interest in history, Kif was well aware of the threats that women face in the world, but she had no notion of the story of sexual violence and abuse that was hidden in her own DNA. Our 21st Century DNA databases did not create the harm, but merely revealed it and, Kif argues, that’s not necessarily a bad thing.

Kevin Mitchell (AKA “Wiring the Brain”) joins us on The Beagle to discuss the use of so-called polygenic risk scores to select for “the smartest embryos,” as a recent Guardian article put it. Can we, and should we, do any such thing? Kevin Mitchell is Associate Professor in the Smurfit Institute of Genetics in Trinity College Dublin and a member of the Trinity College Institute of Neuroscience, and a philosopher-scientist who writes frequently on the mechanisms and deeper meaning of brain science.

Kiran Musunuru, Associate Professor at the University of Pennsylvania Perelman School of Medicine, is back on The Beagle to talk about Verve Therapeutics, a company that announced its arrival earlier this month, with the modest goal of protecting the world from heart disease (honestly, “protect the world form heart disease" IS the Verve tagline).

As the Gary and Mary West Professor of Innovative Medicine and Founder/Director of the Scripps Translational Institute, Eric Topol is in the visionary business, trying to imagine what medicine will look like in the future. His current book, Deep Medicine, explores how artificial intelligence will affect all aspects of healthcare – from the obvious stuff (reading x-rays) to the not-so-obvious (creating digital twins for research studies).

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 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 (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 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.