Implementation of polygenic risk scores (PRS) may improve disease prevention and
management but poses several challenges: the construction of clinically valid assays …

Background Polygenic scores—which quantify inherited risk by integrating information from
many common sites of DNA variation—may enable a tailored approach to clinical medicine …

Background Monogenic diabetes presents opportunities for precision medicine but is
underdiagnosed. This review systematically assessed the evidence for (1) clinical criteria …

Epilepsy genetics is a rapidly developing field, in which novel disease‐associated genes,
novel mechanisms associated with epilepsy, and precision medicine approaches are …

Background: It is important to identify patients with monogenic IBD as management may
differ from classical IBD. In this position statement we formulate recommendations for the …

The use of genomics in medicine is expanding rapidly, but information systems are lagging
in their ability to support genomic workflows both from the laboratory and patient-facing …

Background Family health history (FHx) is an important predictor of a person's genetic risk
but is not collected by many adults in the United States. Objective This study aims to test and …

Objectives To develop a new interface for the widely used prognostic breast cancer tool:
Predict: Breast Cancer. To facilitate decision‐making around post‐surgery breast cancer …

Elective genetic testing (EGT) programs that provide pharmacogenomic information to guide
medication management and screen for medically actionable disease predispositions are …

Background Retinitis pigmentosa (RP) is a genetically heterogeneous retinal dystrophy
which results in progressive vision loss. There is scant literature on the experiences of …