Precision medicine is making an impact on patients, health care delivery systems, and
research participants in ways that were only imagined fifteen years ago when the human …

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 …

Summary The Global Alliance for Genomics and Health (GA4GH) aims to accelerate
biomedical advances by enabling the responsible sharing of clinical and genomic data …

The development of high-throughput, data-intensive biomedical research assays and
technologies has created a need for researchers to develop strategies for analyzing …

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

Purpose Three genetic conditions—hereditary breast and ovarian cancer syndrome, Lynch
syndrome, and familial hypercholesterolemia—have tier 1 evidence for interventions that …

There is growing interest in communicating clinically relevant DNA sequence findings to
research participants who join projects with a primary research goal other than the clinical …

Rare genetic disorders (RGDs) often exhibit significant clinical variability among affected
individuals, a disease characteristic termed variable expressivity. Recently, the aggregate …

Advances in technologies for assessing genomic variation and an increasing understanding
of the effects of genomic variants on health and disease are driving the transition of …

Importance HFEgene–associated hereditary hemochromatosis type 1 (HH1) is
underdiagnosed, resulting in missed opportunities for preventing morbidity and mortality …