Genetic Counselor Donna Bernstein and Dr. Nadia Sethi discuss genetics and genetic counseling and their impact on drug development and access to research.
Their discussion highlights:
Explores genetics as one of the fastest-evolving areas in ALS, spanning testing, family risk, precision therapies, and large-scale research, and what first drew Donna to genetic counseling.
Shares how her mother's pancreatic cancer diagnosis brought her to the other side of the conversation, teaching her about uncertainty and family decision-making.
Explains how a clinical diagnosis differs from a genetic one, and why many families receive an ALS diagnosis well before they ever have genetic testing.
Examines the heterogeneity that exists even between variants within the same gene, and how to help families navigate that uncertainty.
Traces the rapid evolution of testing from gene panels to whole exome, whole genome, and long-read sequencing, and what registries and large datasets could unlock.
Considers how the genetic counselor's role is evolving alongside precision medicine, and some misunderstands about genetic testing that exist today.
Podden och tillhörande omslagsbild på den här sidan tillhör
North Star ALS. Innehållet i podden är skapat av North Star ALS och inte av,
eller tillsammans med, Poddtoppen.
