Barriers and Opportunities in Genetic Testing for BRCA Gene Mutations in Europe: A Strategic Policy Response to Support Women and Families At Risk for Breast Cancer

Abstract

Background and context: An estimated 12.5% of women are at risk for breast cancer. 5%-10% of these cases are hereditary, and of these, 20%-25% are due to BRCA gene mutations. Women with BRCA mutations are at higher risk of early onset, recurrence and of triple-negative breast cancer, with fewer treatment options. These women need to be supported to seek genetic testing as early as possible. They also need support and guidance to inform family members, consider preventive interventions and obtain appropriate care and counseling. Aim: To provide an overview of the BRCA genetic testing policy landscape in Europe and highlight barriers to women and their families to access testing, information and support. Strategy: A pragmatic review of international published and gray literature. With a focus on Europe and Israel, we looked for epidemiologic data in six countries and assessed the systems, policies and services in place for genetic testing, counseling and care. This was complemented by semistructured telephone interviews with healthcare professionals, researchers and patient representatives. Policy process: We must develop comprehensive cancer control plans that provide for high-quality prevention, treatment and care for all women with BRCA mutations, whether they develop breast cancer. The unmet needs of later-stage and more difficult-to-treat breast cancers, such as BRCA-mutated or triple-negative must not be neglected. Outcomes: Current BRCA genetic testing guidelines are insufficient. Testing eligibility is restricted to high-risk patients, despite evidence that over half of women diagnosed with BRCA-related breast cancer could be missed with this approach. Access barriers to information and services include: too few genetic counselors to provide information and support to women and their families; limited primary care genetics knowledge which may lead to low referral rates and unequal testing access based on region, age and race. Individuals may also forego testing for fear of discrimination by employers or insurance companies or the effect a positive test might have on families and relationships. What was learned: Opportunities to address the unmet needs of women considering BRCA genetic testing include: greater public awareness and understanding of testing; building professional capacity to better support those getting tested and policies to protect women against discrimination from employers or insurers. The emotional impact on women who undergo testing must also be considered, as well as the provision of appropriate information, support and care through every stage of a woman's experience. This research offers a starting point for discussion with policymakers and patient organizations to ensure pathways and policies are place which integrate the patient experience into comprehensive care pathways and national cancer control plans.