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

Ing Lee, Siang; Patel, Mitesh; Dutton, Brittany; Weng, Stephen; Luveta, Jocelyn; Qureshi, Nadeem


Siang Ing Lee

Mitesh Patel

Clinical Trials Manager

Stephen Weng

Jocelyn Luveta


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 careto 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 identification of cancer predisposition; secondary outcomes were appropriateness of referral, uptake of preventive strategies, cognitive and psychological effect. From 11842 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 inpatients 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, longer follow up, and assess outcomes using validated tools.


Ing Lee, S., Patel, M., Dutton, B., Weng, S., Luveta, J., & Qureshi, N. (2019). Effectiveness of interventions to identify and manage patients with familial cancer risk in primary care: a systematic review. Journal of Community Genetics,

Journal Article Type Article
Acceptance Date Apr 5, 2019
Online Publication Date May 6, 2019
Publication Date May 6, 2019
Deposit Date Apr 9, 2019
Publicly Available Date May 7, 2020
Journal Journal of Community Genetics
Print ISSN 1868-310X
Electronic ISSN 1868-6001
Publisher Springer Verlag
Peer Reviewed Peer Reviewed
Keywords Primary health care; genetic predisposition to disease; breast neoplasm; ovarian neoplasms; colorectal neoplasms; prostatic neoplasms
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Additional Information This is a post-peer-review, pre-copyedit version of an article published in Journal of Community Genetics. The final authenticated version is available online at: