Population-Based Genome Screening: Recent Results and the Road Ahead
September 17, 2020, 11:00 am -12:00 pm EDT
Join us for a free webinar
There is now evidence that approaches using medical history–based screening alone fail to identify most individuals with genetic diseases associated with preventable deaths from cancer and heart disease, most notably, hereditary breast and ovarian cancer, Lynch syndrome and familial hypercholesterolemia (CDC Tier 1 genomic applications). Several population-based biobanks and health systems are using a genome-first approach to use results of genetic testing for pathogenic and likely pathogenic variants associated with these conditions in clinical practice.
In this webinar, participants will learn about new evidence that using medical history-based screening alone fails to identify most individuals with genetic diseases associated with preventable deaths from cancer and heart disease. Most notably, this webinar focuses on evidence on how to prevent deaths caused by hereditary breast and ovarian cancer, Lynch syndrome and familial hypercholesterolemia. Also, the webinar will provide updates on how biobanks and health systems use genome-first approaches to genetic testing for clinical practice. We will be reviewing recent experience and publications on population-based screening for selected adult genetic diseases from two groups, the Geisinger Health System and the Nevada Genome Project.
Adam H Buchanan, MS, MPH, CGC,
Director of Geisinger Genomic Medicine Institute,
Geisinger Health System
Joseph J Grzymski, PhD,
Chief Scientific Officer, Renown Health,
Director, Renown Institute for Health Innovation,
Research Professor, Computational Biology and Genomic Medicine,
Desert Research Institute, Reno, NV
Michael A. Murray MD, FACP,
Director of Clinical Operations,
Center for Genomic Health,
Yale University School of Medicine,
New Haven, Connecticut
- Clinical outcomes of a genomic screening program for actionable genetic conditionsexternal iconAH Buchanan et al, Genetics in Medicine, June 30, 2020
- Population genetic screening efficiently identifies carriers of autosomal dominant diseasesexternal iconJJ Grzymski et al, Nature Medicine, July 27, 2020
- DNA-Based Population Screening: Potential Suitability and Important Knowledge Gapsexternal iconMurray MF et al, JAMA, December 6, 2019.
- Office of Genomics and Precision Public Health, Office of Science