BRCA1 and BRCA2 gene pathogenic variants account for most hereditary breast cancer
and are increasingly used to determine eligibility for PARP inhibitor (PARPi) therapy of …

Newborn screening was first introduced at the beginning of the 1960s with the successful
implementation of the first phenylketonuria screening programs. Early expansion of the …

Clinicians are encouraged to document the reasons for the use of a particular procedure or
test, whether or not it is in conformance with this statement. Clinicians also are advised to …

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 …

If genome sequencing is performed in health care, in theory the opportunity arises to take a
further look at the data: opportunistic genomic screening (OGS). The European Society of …

ASCO Guidelines provide recommendations with comprehensive review and analyses of
the relevant literature for each recommendation, following the guideline development …

High-throughput sequencing has greatly contributed to precision medicine. However,
challenges remain in reporting secondary findings (SFs) of germline pathogenic variants …

Background Precision oncology, using comprehensive biomarker testing (cBT) to inform
individual cancer diagnosis, prognosis and treatment, includes increasingly complex …

Hereditary gynecological cancers are caused by several inherited genes. Tumors that arise
in the female reproductive system, such as ovaries and the uterus, overlap with hereditary …

Increasing use of diagnostic genomic sequencing is pushing health services to confront the
issue of opportunistic genomic screening (OGS). To date, OGS has been offered …