GenePod is the podcast from the journal Genetics in Medicine. Join us as host Cynthia Graber delves into the latest research in medical genetics and genomics, featuring content from this leading journal.
Over the past decade, there’s been a running debate about whether to return secondary findings identified during genomic testing of children. The ACMG published a statement in 2013, and again in 2021, recommending disclosing secondary findings to all individuals, including the families of pediatric patients, as the body of evidence in support of such disclosure has accumulated. In a recent study in Genetics in Medicine, “Genomic tools for health: Secondary findings as findings to be shared,” researchers evaluated parents’ potential responses to receiving secondary findings about their child. Skye Miner, PhD, assistant professor of bioethics and medical humanities at University of Arkansas for Medical Sciences, joined GenePod to discuss the results of the survey and their implications for disclosing secondary findings identified in children.
Telemedicine use increased during the COVID pandemic, as did access to telegenetics, but many of the policies that expanded the use of such services during the pandemic are set to expire. To address this urgent problem, the Advocacy and Government Affairs Committee of the American College of Medical Genetics and Genomics recently released a Points to Consider statement, “Considerations for Policymakers to Improve Healthcare through Telegenetics.” Heather Williams, PhD, director of clinical science oncology at Tempus Labs, and David Flannery, MD, director of telegenetics and digital genetics at Cleveland Clinic, joined GenePod to explore what changes can be made to ensure access to telegenetics in the future.
Cystic fibrosis (CF) is thought to be far more common in individuals who self-identify as White than in other groups, and in part that’s because 90 percent of CF registry participants in the US, Canada, and the UK self-identify as White. But a team of researchers took a closer look at Asian CF patients in UK and Canadian registries, plus the registry at Stanford University. They disaggregated the data on South Asian from all other Asian populations, and they were able to both estimate population prevalence, as well as identify pathogenic variants linked to CF in Asian populations. On this month’s GenePod, two of the study’s authors, Zachary M. Sellers, MD, PhD, assistant professor of pediatrics in the division of pediatric gastroenterology, hepatology, and nutrition at Stanford University, and Sriram Vaidyanathan, PhD, assistant professor and principal investigator at Ohio State University and Nationwide Children's Hospital, discuss the results of their research.
The UK Biobank is a rich source of genetic information and in a previous study, Anna Murray, PhD professor of human genetics at the University of Exeter, mined the biobank to discover new phenotypes for the chromosomal disorder Turner Syndrome in women. In this new study, she and colleagues, including Ken Ong, MD, PhD, professor of pediatric epidemiology and a pediatric endocrinologist at the University of Cambridge, turned their attention to men. On this month’s GenePod, they discuss what they found about the male sex abnormalities Klinefelter Syndrome and XYY, including new data about the risks of adverse health outcomes.
Diagnostic yield, optimal timing, and methodology of next generation sequencing data reanalysis.
Next generation sequencing has becoming increasingly powerful in diagnosing Mendelian disorders, yet typically more than 50 percent of cases remain unsolved after an initial clinical exome or clinical genome sequencing.
As more and more genes are implicated in disease, one of the challenges in implementing genomics in medical practice has been the lack of a single, standardized, and shared genomics database, for both labs and clinicians to access.