Speaker
Robert C. Green, MD, MPH
Professor of Medicine (Genetics), Harvard Medical School
Director, Genomes2People Research Program and Preventive Genomics Clinic
Mass General Brigham, Ariadne Labs, Broad Institute
Topic
The Path to Preventive Genomics
Keywords
Preventive genomics; Whole genome sequencing; Return of results; Risk stratification; Precision medicine
Key Points
- The goal of the Genomes2People research program is to bring genomics into evidence-based patient care. The program conducts empirical research in translating genomics into health, including the first rigorous trials to provide comprehensive genome sequencing to adults and newborn infants.
- Twenty percent of healthy people are carrying a monogenic disease risk variant. The number of people carrying variants for monogenic diseases depends on how many genes are analyzed.
- Polygenic risk is the chance of developing certain health conditions based on a large number of genetic variants across the genome.
Discussion Themes
People are interested in medical information about themselves. It’s up to the healthcare system and physicians to create nuanced communication about genetic information that helps people understand its role in health.
Is there a diversity of families seeking out genomic screening services?
Should genetic variants of unknown significance (VUS) be reported to the individual?
Read more at Genomes2People and Brigham Preventive Genomics Clinic.
Tags
#pctGR, @Collaboratory1, @genomes2people