Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2021 Feb 23;13(4):925.
doi: 10.3390/cancers13040925.

Interventions Facilitating Family Communication of Genetic Testing Results and Cascade Screening in Hereditary Breast/Ovarian Cancer or Lynch Syndrome: A Systematic Review and Meta-Analysis

Affiliations
Review

Interventions Facilitating Family Communication of Genetic Testing Results and Cascade Screening in Hereditary Breast/Ovarian Cancer or Lynch Syndrome: A Systematic Review and Meta-Analysis

Vasiliki Baroutsou et al. Cancers (Basel). .

Abstract

Evidence-based guidelines recommend cascade genetic testing of blood relatives of known Hereditary Breast and Ovarian Cancer (HBOC) or Lynch Syndrome (LS) cases, to inform individualized cancer screening and prevention plans. The study identified interventions designed to facilitate family communication of genetic testing results and/or cancer predisposition cascade genetic testing for HBOC and LS. We conducted a systematic review and meta-analysis of randomized trials that assessed intervention efficacy for these two outcomes. Additional outcomes were also recorded and synthesized when possible. Fourteen articles met the inclusion criteria and were included in the narrative synthesis and 13 in the meta-analysis. Lack of participant blinding was the most common risk of bias. Interventions targeted HBOC (n = 5); both HBOC and LS (n = 4); LS (n = 3); or ovarian cancer (n = 2). All protocols (n = 14) included a psychoeducational and/or counseling component. Additional components were decision aids (n = 4), building communication skills (n = 4), or motivational interviewing (n = 1). The overall effect size for family communication was small (g = 0.085) and not significant (p = 0.344), while for cascade testing, it was small (g = 0.169) but significant (p = 0.014). Interventions show promise for improving cancer predisposition cascade genetic testing for HBOC and LS. Future studies should employ family-based approaches and include racially diverse samples.

Keywords: Tier-1 genetic conditions; intervention efficacy; psychoeducational interventions; randomized controlled trials.

PubMed Disclaimer

Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
PRISMA flow diagram for study selection.
Figure 2
Figure 2
Family communication.
Figure 3
Figure 3
Cascade genetic testing.
Figure 4
Figure 4
Knowledge.
Figure 5
Figure 5
Anxiety.
Figure 6
Figure 6
Depression.
Figure 7
Figure 7
Perceived risk.

References

    1. Ferlay J., Soerjomataram I., Dikshit R., Eser S., Mathers C., Rebelo M., Parkin D.M., Forman D., Bray F. Cancer incidence and mortality worldwide: Sources, methods and major patterns in Globocan 2012. Int. J. Cancer. 2015;136:E359–E386. doi: 10.1002/ijc.29210. - DOI - PubMed
    1. Allemani C., Weir H.K., Carreira H., Harewood R., Spika D., Wang X.S., Bannon F., Ahn J.V., Johnson C.J., Bonaventure A., et al. Global surveillance of cancer survival 1995–2009: Analysis of individual data for 25,676,887 patients from 279 population-based registries in 67 countries (Concord-2) Lancet. 2015;385:977–1010. doi: 10.1016/S0140-6736(14)62038-9. - DOI - PMC - PubMed
    1. Hu C., Hart S.N., Gnanaolivu R., Huang H., Lee K.Y., Na J., Gao C., Lilyquist J., Yadav S., Boddicker N.J., et al. A population-based study of genes previously implicated in breast cancer. N. Engl. J. Med. 2021;384:440–451. doi: 10.1056/NEJMoa2005936. - DOI - PMC - PubMed
    1. Chubb D., Broderick P., Frampton M., Kinnersley B., Sherborne A., Penegar S., Lloyd A., Ma Y.P., Dobbins S.E., Houlston R.S. Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing. J. Clin. Oncol. 2015;33:426–432. doi: 10.1200/JCO.2014.56.5689. - DOI - PubMed
    1. Walsh T., Casadei S., Lee M.K., Pennil C.C., Nord A.S., Thornton A.M., Roeb W., Agnew K.J., Stray S.M., Wickramanayake A., et al. Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc. Natl. Acad. Sci. USA. 2011;108:18032–18037. doi: 10.1073/pnas.1115052108. - DOI - PMC - PubMed

LinkOut - more resources