Keynote Presentation: History and Future of Tier 1 Genomic Population Screening with Live Q&A

The Genomes2People Research Program (G2P), led by Robert Green at Brigham and Women’s Hospital, the Broad Institute, Ariadne Labs, and Harvard Medical School, conducts research to accelerate the implementation of genomic medicine and the promise of precision health. In his talk, "History and Future of Tier 1 Genomic Population Screening," Dr. Green discusses the latest advancements in genomics research and the promise it holds for personalized and preventive medicine on a population level, drawing on his work leading the MedSeq Project, BabySeq Project, and Precision Population Health Initiative.

Throughout his talk, Dr. Green highlights the progress made by the MedSeq and BabySeq projects in advancing our understanding of genomics and its application to clinical care. MedSeq explored the use of whole genome sequencing in primary health care and cardiology specialty care, while BabySeq focuses on the use of genomic sequencing as screening in newborns. Dr. Green also co-leads the Precision Population Health (PPH) Initiative which collaborates with health systems to bring the promise of genetic medicine into primary care settings. Most recently, PPH has been piloting screening for the CDC Tier 1 genes for Hereditary Breast/Ovarian Cancer Syndrome, Lynch Syndrome and Familial Hypercholesterolemia in a primary care clinic at the Southcentral Foundation in Alaska.

Dr. Green discusses how the insights gained through these projects are paving the way for implementing a more personalized and preventive approach in medicine. He emphasizes the importance of integrating genomic data into clinical care and the need for policies and guidelines to ensure that this is done in an ethical, responsible and cost effective manner.

Through rigorous scientific research, G2P is establishing a foundation of evidence for genomic medicine that will accelerate the adoption of novel genomics-based technologies and hasten the day when illness is not just treated, but prevented.

Learning Objectives: 

1. Discuss the current state of genomics research and its potential to improve human health through personalized and preventive medicine.

2. Discuss the arguments for and against population based genetic screening.

3. Identify the percentages of healthy adults and infants who carry unanticipated monogenic disease risks or atypical pharmacogenomic variants as observed in the MedSeq and BabySeq projects.