Rare diseases are a leading cause of infant mortality and lifelong disability. To improve
outcomes, timely diagnosis and effective treatments are needed. Genomic sequencing has …

This contemporary, international, evidence-informed guidance aims to achieve the greatest
good for the greatest number of people with familial hypercholesterolaemia (FH) across …

Despite considerable research efforts, pancreatic cancer is associated with a dire prognosis
and a 5-year survival rate of only 10%. Early symptoms of the disease are mostly …

Importance Germline genetic testing is recommended by practice guidelines for patients
diagnosed with cancer to enable genetically targeted treatment and identify relatives who …

Asian populations are under-represented in human genomics research. Here, we
characterize clinically significant genetic variation in 9051 genomes representing East …

Background: The cost-effectiveness of screening the US population for Centers for Disease
Control and Prevention (CDC) Tier 1 genomic conditions is unknown. Objective: To estimate …

OBJECTIVE: To examine user uptake and experience with a clinical chatbot that automates
hereditary cancer risk triage by collecting personal and family cancer history in routine …

Over 100 million research participants around the world have had research array-based
genotyping (GT) or genome sequencing (GS), but only a small fraction of these have been …

Importance Personalized surveillance, prophylaxis, and cancer treatment options for
individuals with hereditary cancer predisposition are informed by results of germline genetic …

Background Population-based genomic screening has the predicted ability to reduce
morbidity and mortality associated with medically actionable conditions. However, much …