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. 2021 Apr;104(4):720-725.
doi: 10.1016/j.pec.2020.12.019. Epub 2021 Jan 5.

Sharing genetic test results with family members of BRCA, PALB2, CHEK2, and ATM carriers

Marleah Dean  1 , Ann L Tezak  2 , Sabrina Johnson  3 , Joy K Pierce  4 , Anne Weidner  2 , Kate Clouse  5 , Tuya Pal  2 , Deborah Cragun  6
Affiliations

Sharing genetic test results with family members of BRCA, PALB2, CHEK2, and ATM carriers

Marleah Dean et al. Patient Educ Couns. 2021 Apr.

Abstract

Objective: This study explored motivators and challenges/barriers to sharing personal genetic test results (GTR) with family members (FM).

Methods: Semi-structured, in-depth interviews were conducted with 62 women who had a pathogenic or likely pathogenic (P/LP) variant in aBRCA, PALB2, CHEK2, or ATM gene. Selective qualitative data analysis focused on eliciting motivators and challenges/barriers identified by participants when sharing their GTR with FM.

Results: Motivators to sharing personal GTR with FM included: health protection and prevention; moral obligation; decisional empowerment; familial ties; written resources; and contextualization for a familial cause for cancer. Challenges/barriers to family sharing included: concern for FM reactions; complexities of information; lack of closeness; perceived relevance; and emotional impact.

Conclusions: All motivators and challenges/barriers were identified across BRCA and non-BRCA carriers, demonstrating commonalities in family sharing of GTR among high- to moderate-penetrance hereditary BC (breast cancer) genes. Despite challenges/barriers, participants disclosed their GTR with most close FM, yet restrictions in communication and/or strain on the timing, manner of disclosing, and strategies used varied across certain FM.

Practice implications: These findings offer healthcare providers and researchers preliminary practical implications for broadly improving family sharing interventions across P/LP variants in BC risk genes by demonstrating important elements to include in family sharing letters.

Keywords: Barriers; Cancer genetic test results; Challenges; Family sharing; Motivators.

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Conflict of interest statement

Declaration of Competing Interest The authors report no declarations of interest.

References

    1. American Cancer Society, I. Breast Cancer Risk and Prevention: Breast Cancer Risk Factors You Cannot Change. 2020. [cited 2020 March 23]; Available from: https://www.cancer.org/cancer/breast-cancer/risk-and-prevention/breast-c....
    1. Kuchenbaecker KB, et al., Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers. JAMA, 2017. 317(23): p. 2402–2416. - PubMed
    1. Yang X, et al., Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families. J Clin Oncol, 2020. 38(7): p. 674–685. - PMC - PubMed
    1. National Cancer Institute: Surveillance, E., and End Results Program. Cancer Stat Facts: Female Breast Cancer. 2016. [cited 2020 March 22]; Available from: https://seer.cancer.gov/statfacts/html/breast.html.
    1. Marabelli M, Cheng SC, and Parmigiani G, Penetrance of ATM Gene Mutations in Breast Cancer: A Meta-Analysis of Different Measures of Risk. Genet Epidemiol, 2016. 40(5): p. 425–31. - PMC - PubMed

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