Population Based Genome Screening: Recent Results and the Road Ahead | CDC

Population Based Genome Screening: Recent Results and the Road Ahead | CDC

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

September 17, 2020, 11:00 am -12:00 pm EDT

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View the Webinar via Zoomexternal icon

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, 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. Our speakers will present recent findings and existing evidence for the suitability of DNA -based screening in population and health care-based settings. Our discussant will put the recent findings in context of evidence-based implementation of DNA-based population screening.

Speaker

Adam H Buchanan, MS, MPH, CGC,
Director of Geisinger Genomic Medicine Institute,
Geisinger Health System
Danville, Pennsylvania 

Speaker

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

Discussant

Michael A. Murray MD, FACP,
Director of Clinical Operations,
Center for Genomic Health,
Yale University School of Medicine,
New Haven, Connecticut

References

1. Clinical outcomes of a genomic screening program for actionable genetic conditionsexternal iconAH Buchanan et al, Genetics in Medicine, June 30, 2020
2. Population genetic screening efficiently identifies carriers of autosomal dominant diseasesexternal iconJJ Grzymski et al, Nature Medicine, July 27, 2020
3. DNA-Based Population Screening: Potential Suitability and Important Knowledge Gapsexternal iconMurray MF et al, JAMA, December 6, 2019.

Hosted by

• Office of Genomics and Precision Public Health, Office of Science