Study devises efficient and economical strategy to screen breast and ovarian cancer gene mutations

A new study published yesterday in the Journal of the National Cancer Institute suggests that, in comparison with just screening women who are at high risk of carrying breast and ovarian cancer gene mutations, screening the entire population for these mutations will be more cost-effective.

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Whole population screening is also expected to prevent more ovarian and breast cancers than the present clinical approach.

According to researchers from Barts Cancer Institute at Queen Mary University of London and Barts Health NHS Trust, implementing a program for testing all British women over 30 years old could result in far fewer cases of ovarian and breast cancer; nearly 17,000 fewer ovarian cancers and 64,000 lesser breast cancers.

BRCA1 and BRCA2 are the most common breast and ovarian cancer causing genes. Women who carry one of these gene mutations possess nearly a 17%–44% chance of developing ovarian cancer and a 69%–72% chance of developing breast cancer in their lifetime.

Across lifetimes, the population-based risk for women with no gene mutation is 2% and 12%, respectively, for ovarian cancer and breast cancer. Known carriers can manage and decrease their risk of causing these cancers through enhanced screening, medical prevention, and risk-reducing surgery. A personal or family history of breast or ovarian cancer is the basis for the existing clinical approach to genetic testing.

In order to compare costs and health benefits of various strategies for genetic testing, the present study utilized complex mathematical models. Methods of population testing for ovarian and breast cancer genes were compared with clinical criteria or family history testing.

The findings of the study suggested population testing for multiple cancer genes was the most cost-effective strategy. It was also found that this strategy prevented more ovarian and breast cancers than the existing screening strategies.

These research findings demonstrate the potential for both saving lives and costs. The impact that this study could have on healthcare in the future for these cancers is promising and an exciting step forward in prevention."

Athena Lamnisos,The Eve Appeal

According to an analysis by the team, for both UK and US health systems, a novel approach of population testing for multiple genes would be cost-efficient.

Dr. Ranjit Manchanda, Consultant Gynaecological Oncologist, Barts Cancer Institute at Queen Mary University of London, and Barts Health NHS Trust, UK, commented that novel progressions in genomic medicine provide the opportunity to present a new population-based predictive, preventive, and personalized medicine strategy for the prevention of cancer.

“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.