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.
The paper “Cost-effectiveness of population-based BRCA1, BRCA2, RAD51C, RAD51D, BRIP1, PALB2 mutation testing in unselected general population women” is available at the Journal of the National Cancer Institute.
