Using Genetic Risk Scores in the Prevention & Control of Common Diseases

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Opportunities and Challenges

Wednesday May 9, 2018
3:00 – 4:00 pm ET
NCI Shady Grove Campus Room 2W030

Free Online Webinar
Registration is required. Register here.

photo of Sekar Kathiresan

Sekar Kathiresan, M.D.
Associate Professor of Medicine, Director of the Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts

photo of Cecile Janssens

Cecile Janssens, Ph.D.
Professor of Epidemiology, Rollins School of Public Health, Emory University, Atlanta, Georgia

  • Presentations. Each presenter will review current experiences; and evidentiary, economic, data sharing and infrastructure, and outcome data requirements needed to implement and measure success of genome sequencing in improving health. (20 minutes each; 40 minutes total)
  • Discussion and Q&As. Emphasis is on how the presented information should inform an implementation science agenda in genomic medicine. (20 minutes)

Common diseases are caused by a combination of genetic and environmental factors. In addition to finding rare genetic diseases with high individual and family risk, recent advances in genomics have enhanced our understanding of multiple genetic variants for these diseases. The contribution of multiple genes to most common diseases can be captured under the rubric of polygenic inheritance, in which additive effects of numerous genes create a normal distribution of disease risk in the population that can be quantified using additive genetic risk scores. There has been a recent surge in scientific interest and publications in using genetic risk scores to stratify people by level of risk and explore using this information in prediction, screening and control of common diseases. Using cancer and heart disease as potential applications, this webinar will explore recent findings, scientific opportunities and challenges in using genetic risk scores in the prevention and control of common diseases.

Relevant References

  1. Population-Based Precision Cancer Screening: A Symposium on Evidence, Epidemiology, and Next Steps. Cancer Epidemiol Biomarkers Prev. 2016 Nov;25(11):1449-1455.
  2. Genome-wide polygenic score to identify a monogenic risk-equivalent for coronary disease. bioRxiv, 2018.
  3. Polygenic Risk Score Identifies Subgroup With Higher Burden of Atherosclerosis and Greater Relative Benefit From Statin Therapy in the Primary Prevention Setting. Circulation. 2017 May 30;135(22):2091-2101.
  4. Genetic Risk, Adherence to a Healthy Lifestyle, and Coronary Disease. N Engl J Med. 2016 Dec 15;375(24):2349-2358.
  5. How can polygenic inheritance be used in population screening for common diseases? Genet Med. 2013 Jun;15(6):437-43.
  6. The impact of genotype frequencies on the clinical validity of genomic profiling for predicting common chronic diseases. Genet Med. 2007 Aug;9(8):528-35.
  7. A critical appraisal of the scientific basis of commercial genomic profiles used to assess health risks and personalize health interventions. Am J Hum Genet. 2008 Mar;82(3):593-9.

Sponsors by

  • Precision Medicine and Population Health Interest Group, Division of Cancer Control and Population Sciences, National Cancer Institute, National Institutes of Health
  • Center for Translation Research and Implementation Science, National Heart, Lung and Blood Institute, National Institutes of Health
  • Office of Public Health Genomics, Centers for Disease Control and Prevention