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Screen all women for breast/ovarian cancer genetic faults, say researchers

Still too many untested assumptions about this approach, counter experts

Caroline White

Thursday, 18 January 2018

Screening all women over the age of 30 for breast and ovarian cancer gene mutations would be cost effective and could stave off thousands more cancers than targeted screening, concludes research* published in the Journal of the National Cancer Institute today.

The researchers estimate that this approach could add up to as many as 17,000 fewer ovarian cancers and 64,000 fewer breast cancers over a lifetime.

Women carrying either a BRCA1 or BRCA2 gene mutation, for example, have approximately a 17-44 per cent chance of developing ovarian cancer and a 69-72 per cent chance of developing breast cancer over their lifetime. The equivalent population based risks for women who don’t carry these genetic mutations is 2-12 per cent, respectively.

The researchers from Barts Cancer Institute at Queen Mary and Barts Health NHS Trust, supported by the London School of Hygiene & Tropical Medicine, used mathematical modelling to look at costs and potential outcomes of different strategies for genetic testing.

They compared population testing for breast and ovarian cancer genes with clinical criteria or targeted family history testing.

The most cost-effective strategy for both UK and US health systems was population testing for multiple cancer genes: this would prevent many more ovarian and breast cancers than current screening strategies, they calculated.

Lead study author, Dr Ranjit Manchanda, consultant gynaecological oncologist, Barts Cancer Institute at Queen Mary, and Barts Health NHS Trust, 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.

“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.”

Athena Lamnisos, who heads up the charity, The Eve Appeal, which funded the research, added: “The impact that this study could have on healthcare in the future for these cancers is promising and an exciting step forward in prevention.”

But professor Diana Eccles, Cancer Research UK’s expert on cancer genetics sounded a note of caution.

The study provided useful insight into the potential cost-effectiveness of genetic testing and that for women at high risk of breast and ovarian cancer, genetic testing could be helpful, enabling them to make an informed decision about reducing their risk, she said.

But she added: “We are probably some distance from safely implementing population genetic testing for cancer risk because there are still too many untested assumptions. For example, risk estimates are still not very precise for most of the genes suggested for inclusion in this scenario. And for some women, finding out they carry a mutation could cause unnecessary anxiety.

“We need to improve our understanding of what to do with this genetic information and work with the public to ensure there is a better understanding of the pros and cons of genetic testing.”



*Ranjit M, et al. Cost-effectiveness of Population-Based BRCA1, BRCA2, RAD51C, RAD51D, BRIP1, PALB2 Mutation Testing in 5 Unselected General Population Women. Journal of the National Cancer Institute, doi: 10.1093/jnci/djx265

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