Population-Based Genome Screening: Recent Results and the Road Ahead

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.