PURPOSE Evidence-based guidelines recommend cascade genetic counseling and testing
for hereditary cancer syndromes, providing relatives the opportunity for early detection and …

Optimal care for familial hypercholesterolaemia (FH) requires patient-centred management,
multidisciplinary teamwork, involvement of primary care practitioners, patient networks …

Importance Hereditary factors play a key role in the risk of developing several cancers.
Identification of a germline predisposition can have important implications for treatment …

Cascade testing is the process of offering genetic counseling and testing to at-risk relatives
of an individual who has been diagnosed with a genetic condition. It is critical for increasing …

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 …

Importance Genomic screening for hereditary breast and ovarian cancer (HBOC) in
unselected women offers an opportunity to prevent cancer morbidity and mortality, but the …

PURPOSE Despite advances in DNA sequencing technology and expanded medical
guidelines, the vast majority of individuals carrying pathogenic variants of common cancer …

Background Pathogenic variants in BRCA1 and BRCA2 (BRCA1/2) lead to increased risk of
breast, ovarian, and other cancers, but most variant-positive individuals in the general …

Successful proband‐mediated family communication and subsequent cascade genetic
testing uptake requires interventions that present information clearly, in sufficient detail, and …

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 …