Effectiveness of interventions to identify and manage patients with familial cancer risk in primary care: a systematic review


This systematic review evaluated the effectiveness of strategies to identify and manage patients with familial risk of breast, ovarian, colorectal and prostate cancer in primary care to improve clinical outcomes. MEDLINE, EMBASE, CINAHL and Cochrane library were searched from January 1980 to October 2017. We included randomised controlled trials (RCT) and non-randomised studies of interventions (NRSI). Primary outcomes were cancer incidence, cancer-related clinical outcomes or the identification of cancer predisposition; secondary outcomes were the appropriateness of referral, uptake of preventive strategies and cognitive and psychological effect. From 11,842 abstracts, 111 full texts were reviewed and three eligible studies (nine articles) identified. Two were cluster RCTs and one NRSI; all used risk assessment software. No studies identified our primary outcomes, with no consistent outcome across the three studies. In one RCT, intervention improved the proportion of genetic referrals meeting referral guidelines for breast cancer (OR 4.5, 95% CI 1.6 to 13.1). In the other RCT, there was no difference in screening adherence between the intervention and control group. However, there was borderline increased risk perception (OR 1.89, 95% CI 0.99 to 3.59) in the subgroup that under-estimated their colon cancer risk. In the NRSI, there was no change in psychological distress in patients at increased familial breast cancer risk, but population risk patients had reduced anxiety after intervention (state anxiety mean change − 3, 95% CI − 5 to − 2). Future studies should have better-defined comparator groups and longer follow-up and assess outcomes using validated tools.

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Fig. 1


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We would like to thank Jeanette Eldridge, senior research librarian at the University of Nottingham for her help with the literature search strategy and Hannah Carpenter, PhD student at the Primary Care Division, University of Nottingham for reviewing the protocol.


SL and MP are National Institute for Health Research (NIHR) funded Academic Clinical Fellows.

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Correspondence to Nadeem Qureshi.

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Nadeem Qureshi is a member of the NICE Guideline Development Group for Familial Breast Cancer and the Advisory Board for Journal of Community Genetics. Siang Ing Lee, Mitesh Patel, Brittany Dutton, Stephen Weng and Jocelyn Luveta declare no conflict of interest.

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Lee, S.I., Patel, M., Dutton, B. et al. Effectiveness of interventions to identify and manage patients with familial cancer risk in primary care: a systematic review. J Community Genet 11, 73–83 (2020) doi:10.1007/s12687-019-00419-6

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  • Primary health care
  • Genetic predisposition to disease
  • Breast neoplasm
  • Ovarian neoplasms
  • Colorectal neoplasms
  • Prostatic neoplasms