Researchers argue in a new study that all women older than 30 should undergo screening for mutations in established risk genes for breast and ovarian cancer. Such a strategy, they believe, is cost effective and could result in up to 17,000 fewer cases of ovarian cancer, and 64,000 fewer cases of breast cancer, in the U.K. alone, than current guidelines.
The study, “Cost-effectiveness of Population-Based BRCA1, BRCA2, RAD51C, RAD51D, BRIP1, PALB2 Mutation Testing in Unselected General Population Women,” was published in the Journal of the National Cancer Institute.
The BRCA1 and BRCA2 genes are the most well-known genes linked to both ovarian and breast cancers. Women with mutations in these genes have a 17 to 44 percent chance of developing ovarian cancer, and a 69 to 72 percent chance for breast cancer.
Women without these mutations carry a considerably lower risk – 2 percent for ovarian cancer and 12 percent for breast cancer – over their lifetimes.
Under current clinical guidelines, only women having a personal or family history of breast or ovarian cancer undergo genetic testing for mutations linked to those cancers.
“However, clinical criteria/FH[family history]-based testing is only moderately effective at identifying mutations and has poor ability to rule out the absence of one,” researchers wrote.
“We and others have shown that this approach misses more than 50 percent of mutation carriers,” they added.
For women, knowing if they are a carrier of any of such mutations means they can adopt new life habits and undergo prevention strategies, such as enhanced screening, medical prevention, or risk-reducing surgery.
The current healthcare system is “directed predominantly toward treatment rather than illness prevention,” the research team said.
Researchers at Barts Cancer Institute, London and Barts Health NHS Trust used complex mathematical models to compare costs and health benefits of different strategies for genetic testing.
They compared the cost-effectiveness of population-based screening for mutations in BRCA1 and BRCA2 genes, but also for additional genes shown to affect the risk of cancer – RAD51C, RAD51D, BRIP1 and PALB2 genes – with clinical criteria or family history testing.
The analysis showed that population testing for multiple cancer genes was the most cost-effective strategy and prevented more cases of breast and ovarian cancer than the current clinical criteria or family history testing.
Such a population-based program implemented in women older than 30 could result, over their lifetime, in 17,505 fewer ovarian cancer cases in the U.K., and 65,221 fewer in the U.S. For breast cancer, the result would be 64,493 fewer cases in the U.K., and 237,610 fewer cases in the U.S., the research showed.
This, researchers said, can change the cancer burden scenario in a more significant way than any current treatment strategy.
“Our data also highlight the need to move from BRCA1/BRCA2 testing to panel testing, incorporating additional RAD51C/RAD51D/BRIP1/PALB2 mutations within a clinical criteria/FH-based strategy itself,” they added.
“Recent advances in genomic medicine offer us the opportunity to deliver a new population-based predictive, preventive and personalized medicine strategy for cancer prevention. Our findings support the concept of broadening genetic testing for breast and ovarian cancer genes across the entire population, beyond just the current criteria-based approach. This could prevent thousands more breast and ovarian cancers than any current strategy, saving many lives,” Ranjit Manchanda, MD, study corresponding author, said in a press release. Manchanda is consultant gynaecological oncologist, Barts Cancer Institute at Queen Mary University of London, and Barts Health NHS Trust, U.K.
“With the costs of testing falling this approach can ensure that more women can take preventative action to reduce their risk or undertake regular screening. As knowledge and societal acceptability of this type of testing increases, it can in the future provide huge new opportunities for cancer prevention and changes in the way we deliver cancer genetic testing,” he added.
“These research findings demonstrate the potential for both saving lives and costs. Whole-population genetic testing is cost-effective,” said Athena Lamnisos, CEO at The Eve Appeal charity that contributed to the study. “If women identified as high risk act on the information that they’re given, in terms risk reducing surgery, their lifetime risk of developing these women-specific cancers can be reduced. The impact that this study could have on healthcare in the future for these cancers is promising and an exciting step forward in prevention.”