Proband-mediated interventions to increase disclosure of genetic risk in families with a BRCA or Lynch syndrome condition: a systematic review

• Published in: European journal of human genetics : EJHG Vol. 31; no. 1; pp. 18 - 34
• Main Authors: Young, Alison Luk, Imran, Aalya, Spoelma, Michael J., Williams, Rachel, Tucker, Katherine M., Halliday, Jane, Forrest, Laura E., Wakefield, Claire E., Butow, Phyllis N.
• Format: Journal Article
• Language: English
• Published: England Nature Publishing Group 01.01.2023; Springer International Publishing
• Subjects: BRCA1 protein; BRCA2 protein; Breast cancer; Cancer; Colorectal cancer; Colorectal Neoplasms, Hereditary Nonpolyposis - genetics; Disclosure; Family; Genetic Counseling; Genetic disorders; Genetic screening; Genetic Testing; Genetics; Humans; Intervention; Public health; Review
• ISSN: 1018-4813; 1476-5438; 1476-5438
• DOI: 10.1038/s41431-022-01200-z

Interventions to assist family communication about inherited cancer risk have the potential to improve family cancer outcomes. This review aimed to evaluate the efficacy of proband-mediated interventions employed within genetics clinics to increase disclosure of genetic risk to at-risk relatives. MEDLINE, Embase, CINAHL, PubMed and PsycINFO were searched for publications between 1990–2020. The quality of studies was assessed. From 5605 records reviewed, 9 studies (4 randomised control trials and 5 cohort studies) were included involving families with BRCA1, BRCA2 and Lynch syndrome. Intervention delivery modes included genetic counselling with additional telephone or in-person follow-up, letters, videos, and decision aids. The percentages of at-risk relatives informed by the proband about their risk ranged from 54.0% to 95.5% in the intervention or family-mediated comparison group. Of those who were informed, 24.4–60.0% contacted a genetics clinic and 22.8–76.2% had genetic testing after they were counselled at a genetics clinic . Significant differences between intervention and control group were reported on all three outcomes by one study, and with relatives contacting a genetics clinic by another study. The studies suggest but do not conclusively show, that tailored genetic counselling with additional follow-up can increase both the proportion of informed relatives and relatives who contact the genetics clinic. With the increase in germline testing, interventions are required to consider the family communication process and address post-disclosure variables (e.g., relative’s perceptions, emotional reactions) through engagement with probands and relatives to maximise the public health benefit of identifying inherited cancer risk in families.