New research from Queen Mary University of London has suggested that screening large populations for breast and ovarian cancer gene mutations could prevent millions of cases worldwide. They also found that this is a cost-effective option in high and upper-middle income countries.

According to the investigators, current guidelines only recommend genetic testing for high-risk women, such as those who fulfill certain clinical criteria or if there is a strong family history of breast or ovarian cancers. The most well-known genes associated with those cancers are BRCA1 and BRCA2, which cause approximately 10% to 20% of ovarian cancers and 6% of breast cancers. However, if women with these mutations could be identified before the disease develops then most of these cancers could be prevented.

“General population BRCA testing can bring about a new paradigm for improving global cancer prevention,” said lead researcher Ranjit Manchanda, MD, MRCOG, PhD, in a statement. “Why do we need to wait for people to develop a preventable cancer to identify others in whom we can prevent cancer? Strategies and pathways for population testing must be developed to enable population genomics to achieve its potential for maximizing early detection and cancer prevention.”

The researchers estimated the cost-effectiveness and health impacts of BRCA testing in the general population and compared these findings with current standard clinical testing of women designated as high risk. They analyzed results from countries considered high income (UK, US, and the Netherlands), upper-middle income (China and Brazil), and low-middle income (India).

The team calculated cost effectiveness from both a payer perspective and a societal perspective, which takes into account other costs such as the impact of lost income and shorter lifespans. According to the results, population-based testing is extremely cost effective in high and upper-middle income countries from a payer perspective.

The approach was also cost saving in high income countries and cost effective in middle income countries. The cost of BRCA testing would need to fall to approximately $172 to become cost effective in low-income countries, according to the findings.

Perhaps most notably, the findings suggest that population-based BRCA testing can prevent between 2319 and 2666 breast cancer cases per million women, and between 327 and 449 ovarian cancer cases per million women compared with the current clinical strategy.

In the United States, these findings would translate to 269,089 breast cancer cases and 17,446 breast cancer-related deaths prevented over a lifetime, in addition to 43,817 ovarian cancer cases and 24,343 ovarian cancer-related deaths.

“With the costs of testing falling, this can provide huge new opportunities for cancer prevention and changes in the way we deliver cancer genetic testing,” Manchanda said. “This approach can ensure that more women can take preventative action to reduce their cancer risk or undertake regular screening.”

Broadening cancer gene testing is cost effective and could prevent millions more cancer cases worldwide [news release]. Queen Mary University of London; July 17, 2020. Accessed July 30, 2020.