A study published in the Journal of the National Cancer Institute indicates that screening the general population for mutations in specific genes is a more cost effective way to detect people at risk and prevents more breast and ovarian cancers compared to only screening patients with a personal or family history of these diseases.
Current guidelines recommend that only those with a personal or family history that could indicate a greater risk of developing cancer be tested for gene mutations that can cause the disease. However, the successful use of testing for high-risk groups has led many to consider extending genetic testing for cancer to the whole population.
Recent technological advances in genomic medicine make large-scale genetic testing possible. The new study evaluated the cost effectiveness of screening the general population for ovarian and breast cancer genes, compared to only screening high-risk people. It found that population-based testing for mutations in specific genes in women over 30 years old was cost effective and prevented more cancers and deaths than only carrying out genetic testing in women whose personal or family history indicated a greater risk of developing cancer.
Mutations that cause cancer can occur in many people with no history to indicate a risk. These people are therefore not included in screening programs that target high-risk patients and the mutations remain undetected. The researchers of the new study estimate that implementing a program to test all women over the age of 30 could result in thousands fewer cases of ovarian and breast cancer in women in the US and UK.
"Population testing for breast and ovarian cancer gene mutations is the most cost-effective strategy which can prevent these cancers in high risk women and save lives, said said the paper's lead researcher, Ranjit Manchanda. "Our findings support broadening genetic testing for breast and ovarian cancer genes across the entire population beyond just the current criteria based clinical approach. Falling costs of testing and technological advancements has made testing populations feasible. As knowledge and societal acceptability of this type of testing increases, it will provide new opportunities for cancer prevention and the way we deliver cancer genetic testing in health care. This approach can have important implications given the effective options that are available for ovarian and breast cancer risk management and prevention for women at increased risk"
The paper "Cost-effectiveness of population-based BRCA1, BRCA2, RAD51C, RAD51D, BRIP1, PALB2 mutation testing in unselected general population women" is available at: https:/
Direct correspondence to:
Dr Ranjit Manchanda MD, MRCOG, PhD
Clinical Senior Lecturer & Consultant Gynaecological Oncologist
Barts Cancer Institute| Queen Mary University of London
Room 4, Basement, Old Anatomy Building | Charterhouse Square | London EC1M 6BQ
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