Screening for breast and ovarian cancer mutations can be cost effective

Research backs blanket screening for breast, ovarian cancer mutations


by Selina McKee from PharmaTimes


Research led by Queen Mary University of London has concluded that whole-population testing for mutations linked with a higher risk of breast and ovarian cancer is cost-effective.

Screening the entire population for such genetic mutations instead of just those deemed at high risk of carrying the anomalies could prevent more ovarian and breast cancers than the current approach, the researchers claim.

According to their findings, implementing a blanket screening programme for all British women over 30 years age could result up to 17,000 less ovarian cancers and 64,000 fewer breast cancers over a lifetime.

Women carrying either a BRCA 1 or BRCA2 gene mutation have an approximate 17-44 percent chance of developing ovarian cancer and a 69-72 percent chance of developing breast cancer over their lifetime. For those who do not, the figures are 2 percent and 12 percent, respectively.

The study, led by researchers from Barts Cancer Institute at Queen Mary and Barts Health NHS Trust, supported by the London School of Hygiene & Tropical Medicine, used mathematical models to compare costs and health benefits of different strategies for genetic testing.

The strategy found to be most cost-effective was population testing for multiple cancer genes, which the researchers say prevented many more ovarian and breast cancers than current methods.

“Recent advances in genomic medicine offer us the opportunity to deliver a new population-based predictive, preventive and personalised medicine strategy for cancer prevention,” noted Dr Ranjit Manchanda, consultant gynaecological oncologist, Barts Cancer Institute at Queen Mary, and Barts Health NHS Trust.

“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.”

“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,” added Athena Lamnisos, chief executive of The Eve Appeal, which funded the research.

However, on a more cautionary note, Cancer Research UK’s Justine Alford told SKY News: “If we're going around and screening all women who are above the age of 30 for these particular genes, these faulty genes, are we going to pick up women who have these particular genes but might not actually develop a disease as a result of these genes?

"And that could cause a huge amount of anxiety in these women. And what if they go on to make potentially life changing decisions such as risk reducing surgery?"

According to BBC News Online, the UK's National Screening Committee said it would look at the findings "with interest".

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