Quality and Safety Imperatives in the Identification and Management of Hereditary Cancer Syndromes

We sought to provide an evidence review of the rapidly expanding technologies and sciences that have moved the field of hereditary cancers from niche to mainstream in current cancer care. This shift mandates that all oncology clinicians have foundational knowledge regarding the identification, testing, and management of patients and families at risk for hereditary cancer. Many cancers have established germline biomarker testing recommendations (breast, ovarian, pancreatic, metastatic prostate, colon), and in many of these cancer types, somatic biomarker tests are also considered standard of care. Unfamiliarity with the complexity of care in hereditary cancer leads to missed opportunities for cancer prevention and guideline-concordant genomic-informed care. Indeed, appropriately ordered, interpreted, and applied germline biomarker testing is a critical quality care indicator. Moreover, preventing harm from overlooked or inappropriate germline biomarker testing and incorrect result interpretation leads to optimal cancer prevention and effective cancer treatment. This is a central safety aspect in this rapidly changing landscape.

A review of peer-reviewed literature.

Based on the literature review, the Five Rights of Germline Biomarker Testing for Hereditary Cancer is offered as a quality and safety framework. Accurate construction and interpretation of the pedigree continue to be a critical risk assessment tool. A comprehensive view of patient factors, family history, tumor pathology, and somatic biomarker test results is essential for quality care in hereditary cancers.

Oncology clinicians must be familiar with and refer to the most recent and updated versions of guidelines from reputable authorities, as the testing criteria shift frequently.

The five rights framework offers clinicians a guide to safe practice in this ever-changing landscape.