Patterns of referrals to regional clinical genetics services for women potentially at above-population level risk of breast cancer

Abstract

Abstract Background The National Institute for Health and Care Excellence (NICE) recommends that women in England at above-population risk be offered additional breast screening and, depending on the level of risk, risk-reducing medication or surgery. Methods We reviewed the hospital records of GP referrals made to two large genetics services in England between 01/12/2021-30/11/2022 for women aged 18–49 years and suspected to be at above-population level risk for breast cancer. We compared the women referred with the wider population and estimates of the number of women at above-population level risk using published data.

Results Up to 20% of women referred did not provide sufficient information for a complete risk assessment and over 25% were considered at near-population level risk after assessment. We estimate that only a small fraction (<10%) of those above population level risk are identified and women in areas of lower deprivation are disproportionately represented amongst referrals.

Conclusions Many women are missing out on potential preventative and risk-reducing interventions for breast cancer and current pathways may be exacerbating existing health inequalities. Better systems for collecting data on family history, improved methods for risk assessment in general practice and more systematic risk assessment of women prior to population-based screening are needed.