Insurance expansion shortened time to BRCA testing and facilitated preventive strategies: a single-center cohort study in Japan

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Abstract Purpose Timely identification of hereditary breast and ovarian cancer (HBOC) is essential for preventive strategies such as risk-reducing surgery. In Japan, national insurance coverage for BRCA genetic testing was expanded in April 2020. This study primarily aimed to determine whether this policy change shortened the interval from breast cancer diagnosis to BRCA genetic testing among patients with pathogenic BRCA1/2 variants. As supportive analyses, we also examined the timing of second primary cancers relative to genetic testing and the subsequent uptake of risk-reducing surgery. Methods We conducted a retrospective single-center cohort study of patients with pathogenic BRCA1/2 variants who underwent surgery for primary breast cancer at a single institution in Japan. The interval from initial cancer diagnosis to genetic testing was compared between patients diagnosed before and after the April 2020 coverage expansion. The occurrence of second primary cancers and the uptake of risk-reducing mastectomy (RRM) and risk-reducing salpingo-oophorectomy (RRSO) were also analyzed. Results Thirty patients were included. Following the expansion of national insurance coverage, the median interval from cancer diagnosis to genetic testing decreased significantly, from 2158 days to 54 days (p < 0.001). Second primary cancers occurred in 10 patients, most of which (8/10) developed before genetic testing. RRM was performed in 76.0% of eligible patients (19/25), and RRSO in 48.1% (13/27); occult breast lesions, both ductal carcinoma in situ, were identified in 2 of 19 RRM specimens (10.5%). Conclusion Expansion of insurance coverage was associated with a marked reduction in the time to BRCA genetic testing, enabling earlier identification of hereditary cancer risk. Before this policy change, second primary cancers frequently occurred prior to genetic testing, underscoring the clinical consequences of delayed testing. Earlier access to genetic testing, together with multidisciplinary counseling, may help expand opportunities for preventive strategies in HBOC.