Large-scale Testing of BRCA Mutations Can Be Cost-Effective, Study Finds

Large-scale Testing of BRCA Mutations Can Be Cost-Effective, Study Finds

Screening the overall population for mutations in the genes BRCA1 and BRCA2 that can cause breast and ovarian cancer is cost-effective in wealthier countries, from the viewpoint of both payers and society, an economic analysis study suggests.

But these screenings are still too expensive to be cost-effective in less wealthy countries under such an analysis.

“We must invest in cancer prevention — this is what will save most lives and also be cost effective within cash-strapped healthcare systems,” Athena Lamnisos, CEO of the U.K. charity Eve Appeal, which supported the study, said in a press release.

The study, “Economic Evaluation of Population-Based BRCA1/BRCA2 Mutation Testing across Multiple Countries and Health Systems,” was published in Cancers.

Inheritable mutations in BRCA1 and BRCA2 cause up to a fifth of ovarian cancers and about 6% of breast cancers. Identifying these mutations in people before they develop cancer can be key, because it opens a possibility of preventative treatments and/or increased screening.

Current global guidelines recommend that testing for these mutations should be done only in individuals with a family history of breast or ovarian cancer, and those who meet certain specific clinical criteria.

However, such limits risk missing a substantial number of mutation carriers though a lack of testing. In fact, less than half of mutation carriers fulfill current test criteria, and one previous study suggested that over 97% of mutation carriers in the U.K. remain unidentified.

In theory, more carriers would be detected with a broader screening strategy, but concerns about cost pose a major obstacle to undertaking such a screening strategy.

Researchers estimated the cost effectiveness of implementing population-wide screening for BRCA1 and BRCA2 mutations. Specifically, they calculated the incremental cost-effectiveness ratio (ICER), which is essentially a comparison of the cost and efficacy is associated with different interventions.

“Economic evaluation is important to weigh up costs and health effects of alternative health strategies, to help health policy decision making with respect to cost efficiency and resource allocation. For interventions to be sustainable, they need to be cost-effective and affordable,” the researchers wrote.

Cost-effectiveness was evaluated in three different settings: high-income countries (HICs; the U.K., U.S., and the Netherlands), upper-middle income countries (UMICs; China and Brazil), and low-middle income countries (LMICs; India). Their economic classification was determined using standards from the World Bank.

Costs were calculated from two perspectives: a payer perspective — which includes medical costs incurred by the health system or providers, such the costs of genetic testing, screening, prevention, and cancer treatment — and a societal perspective, which  accounts for lost productivity and shortened lifespans.

From both perspectives, general population testing was cost-effective in HICs and UMICs, but not in LMIC. From a societal perspective, general population testing was estimated to be cost-saving, overall, in a HIC setting.

The researchers calculated that, for this strategy to be effective in a LMIC from a societal perspective, the cost of BRCA testing would need to fall to $172 per test. To be effective from a payer perspective, the cost would need to drop to $95. For the U.S., in comparison, testing cost-effectiveness was set at $1,577 for a societal perspective, and $1,417 from a payer perspective.

With current trends in testing costs, this may be achievable in the near future. “We are aware of Indian providers who offer BRCA testing for around $140/test. Genetic testing costs have fallen considerably over the last 5 years and remain on a downward trajectory,” the researchers wrote.

The researchers estimated that implementing mutation screening in the general population would prevent 2,319 to 2,666 cases of breast cancer and 327 to 449 ovarian cancer cases per one million women. In the U.S., this would translate to preventing an additional 269,089 breast cancer and 43,817 ovarian cancer cases, as well as 17,446 breast cancer 24,343 ovarian cancer deaths.

“General population BRCA testing can bring about a new paradigm for improving global cancer prevention,” Ranjit Manchanda, MD, PhD, a professor at Barts Cancer Institute and study co-author, said in the release. “Why do we need to wait for people to develop a preventable cancer to identify others in whom we can prevent cancer?”

“The evidence emerging from this study is an exciting step forward: we can stop cancer before it has a chance to start through broadening a simple genetic test to a wider population,” Lamnisos added.