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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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