Towards population-based genetic screenings for breast and ovarian cancer: A comprehensive review from economic evaluations to patient perspectives

Abstract

Genetic testing for hereditary breast and ovarian cancer following genetic counseling is based on guidelines that take into account particular features of the personal and family history, and clinical criteria conferring a probability of having a BRCA mutation greater than 10% as a threshold for accessing the test. However, besides reducing mortality and social impact, the extension of screening programs also for healthy family members would allow a huge saving of the rising costs associated with these pathologies, supporting the choice of the "Test" strategy versus a "No Test" one. Analyses of different health care systems show that by applying the "Test" strategy on patients and their families, a decrease in breast and ovarian cancer cases is achieved, as well as a substantial decrease in costs of economic resources, including the costs of the clinical management of early detected tumors.In this review, we analyzed the most recent papers published on this topic and we summarized the findings on the economic evaluations related to breast and ovarian cancer population screenings. These results proved and validated that the population-wide testing approach is a more accurate screening and preventive intervention than traditional guidelines based on personal/family history and clinical criteria to reduce breast and ovarian cancer risk.

Intention to Inform Relatives, Rates of Cascade Testing, and Preference for Patient-Mediated Communication in Families Concerned with Hereditary Breast and Ovarian Cancer and Lynch Syndrome: The Swiss CASCADE Cohort

“…Cascade screening for monogenic actionable (Tier 1) conditions can reduce the risk of adverse health outcomes in entire cohorts of relatives [ 8 ]. It is a cost-effective approach for identifying at-risk individuals, especially in young, unaffected relatives [ 9 , 10 , 11 ]. Monitoring variant-harboring families provides important information for planning adequate quantity and quality of services and long-term coordination of cancer care [ 12 ].…”

Prevalence of mutations in BRCA and homologous recombination repair genes and real-world standard of care of Asian patients with HER2-negative metastatic breast cancer starting first-line systemic cytotoxic chemotherapy: subgroup analysis of the global BREAKOUT study

“…However, the cost of genetic testing is an important factor in screening programs. Recent studies have suggested that population-based genetic testing is more cost-effective than a strategy based on clinical criteria and family history [ 28 , 29 ]. Although a recent Japanese study of patients with MBC suggested that BRCA1/2 profiling combined with olaparib treatment provided a minimal incremental benefit versus standard chemotherapy alone [ 30 ], other studies have demonstrated cost-effectiveness of routine/mainstream genetic testing for all patients diagnosed with breast cancer to guide subsequent personalized therapy [ 31 , 32 ].…”

Uptake Rates of Risk-Reducing Surgeries for Women at Increased Risk of Hereditary Breast and Ovarian Cancer Applied to Cost-Effectiveness Analyses: A Scoping Systematic Review

“…A literature search was conducted in MEDLINE (via PUBMED) on 21 September 2022 and the Centre for Reviews and Dissemination (CRD) database to search for health economic modeling studies that addressed women who were offered RRM and/or RRSO after screening for germline BRCA mutations. In addition, we screened the studies included in the most recent systematic reviews published on the topic [ 7 , 11 , 12 , 13 , 14 ]. The search strategy is provided in the Supplementary Materials (File S1) .…”