Hereditary Cancer Genetic Testing for All? A Retrospective Analysis on Genetic Mutations Found in Individuals Not Meeting NCCN® Guidelines.

Hereditary cancer testing offered to all after risk assessment, including outside NCCN criteria; 4-year retrospective analysis across 15 sites

Hereditary cancer genetic testing is usually restricted to individuals meeting NCCN criteria, but many fall outside them or have limited family-history knowledge. A Connecticut radiology network implemented universal risk screening and then offered testing to all, regardless of guideline eligibility. This retrospective analysis spans four years (2021–2025) across 15 sites, using an expanded hereditary cancer panel. It evaluates pathogenic variants detected in patients who would not have been tested under standard criteria.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

A contribution to the debate on mainstreaming and expanded testing: testing beyond NCCN criteria identifies carriers who would be missed by current pathways. It must be weighed against VUS burden, counselling load and cost — but the issue of under-testing driven by family-history criteria is real and well framed here.

Analysis by Dr Thibaut Benquey