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Population genetic screening for breast and ovarian cancer is cost-effective

Whole-population genetic testing for breast and ovarian cancer is more cost-effective than current clinical criteria/family history (FH)-based prevention strategies, according to research led by Queen Mary University of London.

The research team believes that implementing a programme to test all British women older than 30 years could result in up to 17,000 fewer ovarian cancers and 64,000 fewer breast cancers. Presenting the findings in the Journal of the National Cancer Institute, the study authors say whole-population genetic screening could have a much greater effect on the burden of disease than any current treatment strategy.

The researchers used a decision-analytic model to compare lifetime costs and effects of criteria/FH-based BRCA1/BRCA2 testing with BRCA1/BRCA2/RAD51C/RAD51D/BRIP1/PALB2 testing in those fulfilling clinical criteria of having a strong family history of cancer (≥10% BRCA1/BRCA2 probability) and all women aged 30 years or older.

They found that, compared with clinical criteria/FH-based BRCA1/BRCA2 testing, clinical criteria/FH-based BRCA1/BRCA2/RAD51C/RAD51D/BRIP1/PALB2 testing is cost-effective, delivering an incremental cost-effectiveness ratio (ICER) of just under £7629.65/quality-adjusted life years (QALY). Population-based testing for BRCA1/BRCA2/RAD51C/RAD51D/BRIP1/PALB2 mutations proved to be the most cost-effective strategy compared with current policy, delivering an ICER of £21,599.96/QALY, significantly below National Institute for Health and Care Excellence (NICE)’s willingness-to-pay threshold of £30,000/QALY. Population-based BRCA1/BRCA2/RAD51C/RAD51D/BRIP1/PALB2 testing can prevent 1.86% of breast cancers and 3.2% of ovarian cancers in UK women, the authors concluded.

First author, Dr. Ranjit Manchanda said: "Recent advances in genomic medicine offer us the opportunity to deliver a new population-based predictive, preventive and personalised 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,” Dr Manchanda said.


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