From: insideprecisionmedicine.
Researchers at the University of Cambridge and The Institute of Cancer Research in London have shown that the current UK National Institute for Health and Care Excellence (NICE) breast cancer risk assessment criteria miss over 95% of women under 50 years of age who will develop the disease within 10 years.
Compared with the multifactorial risk assessment tool BOADICEA, short for Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm, the NICE criteria identified around eight times fewer women who developed breast cancer.
The study’s senior author, Juliet Usher-Smith, MB BChir, PhD, from the Department of Public Health and Primary Care, University of Cambridge explained that the NICE criteria were developed to identify women at increased risk for breast cancer due to a family history of the disease.
The criteria are based on family history alone and include the number of relatives a woman has with breast or ovarian cancer and the ages at which those relatives were diagnosed. Women meeting the criteria for high risk are then referred for formal breast cancer risk assessment using risk prediction models in secondary care or specialist genetics services.
However, Usher-Smith points out that in the current analysis, “nearly three-quarters of women who are under 50 at the time of a risk assessment and go on to develop breast cancer within 10 years do not have a family history of breast cancer.”
“The NICE criteria will miss them all,” Usher-Smith told Inside Precision Medicine. “NICE are reviewing their guidance, and this study highlights the limitations of just using family history.”
At present, multifactorial breast cancer risk prediction models are only recommended for use by NICE in secondary care or specialist genetics services.
Usher-Smith and team compared the performance of the NICE criteria with the BOADICEA risk model among 1258 women aged under 50 years who took part in the Generations Study between 2004 and 2011. Of these, 392 developed breast cancer.
The BOADICEA model includes family history alongside reproductive factors, lifestyle factors, hormonal factors, and genetic risk factors. It can also incorporate breast density but that was not included in the current study.
The researchers report in the British Journal of Cancer that applying the full BOADICEA model to the whole population in primary care would result in 26.5% of women under age 50 years meeting the referral criteria for further testing and being categorized as at above-population level risk. This included 34.8% of the women who developed breast cancer within 10 years, with 185 women needing to be assessed to identify one breast cancer case.
Of note, 73% of the women estimated to be at above-population level risk based on the full BOADICEA model did not have a family history of breast cancer. Restricting the BOADICEA risk assessment to women with a family history of breast cancer more than halved the identification of women who subsequently developed breast cancer, to 15.7%.
By comparison, the NICE criteria identified 4.4% of women who developed breast cancer within 10 years amongst 1.4% of women who met referral criteria, with 161 women needing assessment to identify one breast cancer case.
Usher-Smith explained that the number needed to be assessed to identify one breast cancer case was higher with BOADICEA than with the NICE criteria because in BOADICEA all women were assessed whereas the NICE criteria exclude women without a family history. “So, although BOADICEA identifies many more breast cancer cases, the risk assessment is being done on many more women,” she remarked.
However, when the team filtered the BOADICEA to include only women with a first or second degree relative with breast cancer, the number needed to assess to identify one breast cancer case was 45—much lower than with the NICE criteria.
Usher-Smith said that there is not yet enough evidence to recommend more widespread use of the BOADICEA model. “We need to do more research and ultimately, it will be a trade-off between the practical, resource, and cost implications of data collection and risk assessment, and the potential benefits and harms associated with accurate and inaccurate classification of women.”
However, she pointed out that the model has the potential to improve precision medicine by enabling more precise identification of women at increased risk of breast cancer.
“Providing more accurate risk estimates to women also has the potential to empower women to make individual decisions around ways to prevent breast cancer,” she remarked.
A second study from the team, also published in the British Journal of Cancer, found strong support among the public for proactive approaches to breast cancer risk assessment for women aged 30–49 years, rather than waiting for women to come forward with concerns about their family history.
Women preferred proactive invitations, rather than having to ask their GP, and supported the use of approaches that identify more women at higher risk, even if this requires more assessments, including genetic testing. The most popular options were those that invited all women for assessment and used more comprehensive risk tools, such as BOADICEA.
Barbara Jacoby is an award winning blogger that has contributed her writings to multiple online publications that have touched readers worldwide.