While current national and international guidelines recommend genetic testing in women with breast cancer who have relevant family history or clinical criteria, patients with breast cancer and genetic pathogenic variants do not always have a positive family history, potentially leading to improper screening for at-risk women. A recent study in JAMA Oncology estimated incremental lifetime effects, costs, and cost-effectiveness of multigene testing of all patients with breast cancer compared with the current practice of genetic testing (BRCA) based on family history or clinical criteria.
The microsimulation modeling study compared lifetime costs and effects of high-risk BRCA1/BRCA2/PALB2 (multigene) testing of all unselected patients with breast cancer (strategy A) against BRCA1/BRCA2 testing based on family history or clinical criteria (strategy B). Both strategies were evaluated with United Kingdom (UK) and US populations.
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Data were collected and analyzed from January 1, 2018 through June 8, 2019. Four large research studies supplied data from 11,836 patients in population-based BC cohorts (regardless of family history). The women in these cohorts were predominantly white and representative of a Western population ethnicity.
For the model, all women with breast cancer underwent BRCA1/BRCA2/PALB2 testing in strategy A. In strategy B, only women with breast cancer fulfilling family history or clinical criteria underwent BRCA testing. BRCA/PALB2 carriers could undertake contralateral preventive mastectomy, while BRCA carriers could also choose to undergo risk-reducing salpingo-oophorectomy (RRSO). Those whose relatives were mutation carriers also underwent cascade testing. Unaffected relative carriers could undergo magnetic resonance imaging or mammographic screening, chemoprevention, or risk-reducing mastectomy for breast cancer risk and RRSO for ovarian cancer risk.