Polygenic risk scores (PRSs) aggregate the many small effects of alleles across the human
genome to estimate the risk of a disease or disease-related trait for an individual. The …

Whole genome sequencing (WGS) shows promise as a first-tier diagnostic test for patients
with rare genetic disorders. However, standards addressing the definition and deployment …

Disclaimer: This statement is designed primarily as an educational resource for medical
geneticists and other clinicians to help them provide quality medical services. Adherence to …

Abstract Background In 2021, the American College of Medical Genetics and Genomics
(ACMG) recommended reporting actionable genotypes in 73 genes associated with …

Personalized medicine has largely been enabled by the integration of genomic and other
data with electronic health records (EHRs) in the United States and elsewhere. Increased …

Importance Detection of disease-associated variants in theBRCA1andBRCA2 (BRCA1/2)
genes allows for cancer prevention and early diagnosis in high-risk individuals. Objectives …

Traditional classification of genetic diseases as monogenic and polygenic has lagged far
behind scientific progress. In this opinion article, we propose and define a new terminology …

Purpose Discovering an incidental finding (IF) or secondary finding (SF) is a potential result
of genomic testing, but few data exist describing types and frequencies of SFs likely to …

Importance Knowledge about the spectrum of diseases associated with hereditary cancer
syndromes may improve disease diagnosis and management for patients and help to …

Importance Familial hypercholesterolemia variants impair clearance of cholesterol from the
circulation and increase risk of coronary artery disease (CAD). The extent to which …