Resources

These resources are intended for clinicians, interested participants and anyone who wants to learn more about polygenic risk scores.

Web sites

• The eMERGE Network participant site.
• National Human Genome Research Institute: Polygenic risk scores.
• CanRisk breast and ovarian cancer risk calculator.

Publications

The eMERGE Network recommends reading these peer-reviewed articles to better understand the study's research.

• Development and validation of a trans-ancestry polygenic risk score for type 2 diabetes in diverse populations.
• Generalizability of polygenic risk scores for breast cancer among women with European, African, and Latinx ancestry.
• Genome-wide polygenic score to predict chronic kidney disease across ancestries.
• Improved genetic risk scoring algorithm for type 1 diabetes prediction.
• Multiancestral polygenic risk score for pediatric asthma.
• Polygenic scores in biomedical research.
• Predictive utility of polygenic risk scores for coronary heart disease in three major racial and ethnic groups.
• Published PRS from eMERGE.
• Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction.

Guidelines and standards of care

Read recent recommendations from major healthcare organizations.

• 2018 guideline on the management of blood cholesterol in patients with familial hypercholesterolemia from the American College of Cardiology and American Heart Association.
• 2019 guideline on the primary prevention of cardiovascular disease: A report of the American College of Cardiology and American Heart Association task force on clinical practice guidelines.
• 2020 update: KDOQI clinical practice guideline for nutrition in chronic kidney disease.
• 2021 KDIGO clinical practice guideline for the management of blood pressure in chronic kidney disease.
• 2023 standards of care in diabetes, diabetes care.
• National Comprehensive Cancer Network clinical practice guidelines in oncology.

Videos

Learn more about polygenic risk and genetic testing with these YouTube videos.

• What are polygenic risk scores?
• The role of genetic testing in cardiovascular disease.