The Genetics Podcast EP 123: The ethics of newborn genome screening: Actionable insights and beyond with Holly Peay, Senior Research Scientist at the Research Triangle Institute
Feb 22, 2024
Join Holly Peay, a Senior Research Scientist at RTI and leader of the Early Check Study, as she breaks down the complexities of newborn genome screening. She discusses ethical challenges, the balance of choice in genetic decision-making, and the significance of using polygenic risk scores. Holly shares insights on the Early Check program's impact, including enrollment statistics and the rationale behind including type 1 diabetes risk scores. Tune in for a fascinating dive into how cutting-edge genetics can reshape early healthcare.
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Counseling Builds On Family Mental Models
- People form mental models to understand complex familial risks, and genetic counseling adds nuance without replacing those models.
- Counseling helps translate etiology into concrete decisions by clarifying concerns and generating actionable plans.
Polygenic Scores Need Context
- Polygenic risk scores are improving but remain imperfect and need environmental and family history inputs.
- Decision aids and best-practice models are increasingly important to help families act on complex genomic information.
Early Check's Evolution To Statewide Sequencing
- Early Check began in 2018 and initially screened ~27,000 babies using targeted tests like Fragile X and SMA, leading to clinical follow-up.
- The program shifted in 2023 to statewide sequencing using the existing newborn dried blood spot for broader genomic screening.