Should All Women Be Offered BRCA Testing? Is It Cost-Effective?

Genetic tests are increasingly used to develop personalized treatment and prevention strategies. However, their large-scale feasibility and cost-effectiveness remain debated. In particular, detecting BRCA1 and BRCA2 gene mutations and other related inherited genetic changes plays a major role in preventing breast and ovarian cancers. However, offering these tests only to women with a family history means overlooking many people at risk. Is offering this test to all women truly cost-effective? A new Canadian study answers yes.

Is Testing Based on Family History Enough?

Currently, in Canada, BRCA1 and BRCA2 testing is offered only to women with a family history of breast or ovarian cancer. However, this approach misses a substantial proportion of high-risk individuals. According to the study, testing all women could prevent more breast and ovarian cancer cases than screening based solely on family history. The researchers estimate that more than 2000 breast cancer cases and 485 ovarian cancer cases per year could be prevented in Canada by testing all women.

“Family history is a poor indicator for predicting cancer risk,” says Ranjit Manchanda, one of the study’s authors. More than 95% of BRCA mutation carriers do not know they have the mutation. Moreover, 50% to 80% of people carrying BRCA mutations do not have a strong family history. This suggests that current screening strategies overlook a large group. Manchanda says moving from a family-history-based screening strategy to a population-based strategy could identify more people at risk and thereby prevent more cancers.

A New Paradigm: Population-Based BRCA Testing

The researchers developed a Markov model to examine the outcomes of offering BRCA testing to all women over 30. The model compared women’s lifetime costs and cancer risks. After testing, women found to be at risk were offered risk-reducing salpingo-oophorectomy to reduce ovarian cancer risk and, to reduce breast cancer risk, MRI, mammography, medical prevention, and risk-reducing mastectomy.

The results showed that population-based BRCA testing was also financially acceptable to the healthcare system. The cost of population-based testing was calculated as 32,276 CAD (23,403 US dollars) per quality-adjusted life-year (QALY) annually from the payer perspective and 16,416 CAD (11,903 US dollars) from the societal perspective. This cost is well below Canada’s conventional threshold of 50,000-100,000 CAD per QALY.

Population-based BRCA testing could prevent 2,555 breast cancers and 485 ovarian cancers per 1 million women, with the potential to avert 196 breast cancer deaths and 163 ovarian cancer deaths, respectively.

Cost and Infrastructure Barriers

Although the results presented in the study are encouraging, some assumptions may be unrealistic. Dr. Dean A. Regier notes that the study assumes all eligible women will undergo genetic testing, which he considers unreasonable. Evidence shows that uptake of existing BRCA testing is only 20% to 30%. The need to expand genetic testing infrastructure should also not be overlooked. Regier emphasizes that the current system has too few genetic counselors to provide these tests, which would lead to long waiting times.

Each year, 150,000 to 350,000 women in Canada will become eligible for testing. This will require a major health policy change. Regier says that simply making testing widely available is not enough; the healthcare system must also be reorganized to meet this demand.

A Major Investment for Canadian Women

Canada’s current program requires women who want BRCA testing to pay out of pocket. The Screen Project was developed to overcome this problem. By testing 19 different genes, the project aims to make testing readily accessible. However, the test still costs approximately 400 CAD, a major barrier for many women.

The project’s founder, Dr. Steven Narod, emphasizes that making this test more widely available has lifesaving potential. He says that people should not wait for the government to cover the cost and that ensuring every woman has access to this vital information is an important investment.

Conclusion: How Should the Healthcare System Change?

Population-based BRCA testing could save lives in Türkiye, as elsewhere in the world, and offer a cost-effective solution in the long term. However, realizing this potential requires fundamental changes to Türkiye’s healthcare system. Training more genetic counselors, expanding testing infrastructure, and increasing public awareness of the benefits of genetic testing are essential for this strategy to succeed.

In Türkiye and other countries, existing healthcare infrastructure is insufficient to offer such testing widely. Genetic counseling and testing services are already limited, and this capacity must be expanded. Large-scale genetic testing also requires raising public awareness and explaining how these tests can serve as a preventive healthcare tool.

To fully benefit from the considerable potential of genetic testing, the healthcare system must adapt to this change. Otherwise, the advantages of tests such as BRCA will remain theoretical and fail to reach the wider population. A strategic roadmap is also needed in Türkiye to train genetic counselors, strengthen genetic testing infrastructure, and improve public genetic literacy. These changes could strengthen preventive healthcare and turn the lifesaving potential of genetic testing into reality.