Family communication of genetic test results among women with inherited breast cancer genes.


Journal

Journal of genetic counseling
ISSN: 1573-3599
Titre abrégé: J Genet Couns
Pays: United States
ID NLM: 9206865

Informations de publication

Date de publication:
06 2021
Historique:
revised: 01 09 2020
received: 28 03 2019
accepted: 07 10 2020
pubmed: 12 11 2020
medline: 16 10 2021
entrez: 11 11 2020
Statut: ppublish

Résumé

Identification of inherited breast cancer may guide care. These benefits can be amplified through communication of genetic test results with at-risk family members and subsequent family testing (FT). Females with a pathogenic/likely pathogenic (P/LP) variant in BRCA1/2, PALB2, CHEK2, and/or ATM were surveyed about family communication (FC) of genetic test results and FT. Comparisons were made across genes. The 235 participants with P/LP variants (186 BRCA1/2, 28 PALB2, 15 CHEK2, and 6 ATM) had a median age of 54 and most were non-Hispanic whites (89%) with a prior breast cancer diagnosis (61%). When controlling for other variables, FC was higher among younger participants (p<.0001), those with high FC self-efficacy (p=.019), and those with P/LP variants in BRCA1/2 compared to PALB2 (p =.040) and ATM/CHEK2 (p =.032). Higher rates of FC and FT were also observed among female relatives and relatives of closer kinship. Overall 94% of participants would find one or more resources helpful with FC and 70% reported using FC resources when telling family members about their genetic test result. The three most commonly used resources included the following: (a) a family sharing letter (38%); (b) printed materials (30%); and (c) web-based information (23%). Among the 86% who spoke with a genetic counselor (GC), 93% were given at least one FC resource and the three most common resources GCs provided to participants overlapped with the resources participants would find helpful and those that were used. Our results suggest lower FC and FT rates among women with P/LP variants in genes other than BRCA1/2, the reasons for which should be evaluated in future studies. As more data to refine cancer risks and management are generated across these other inherited breast cancer genes, strategies to improve FC and FT are needed to amplify the benefits of genetic testing.

Identifiants

pubmed: 33174380
doi: 10.1002/jgc4.1356
doi:

Substances chimiques

Ataxia Telangiectasia Mutated Proteins EC 2.7.11.1

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

701-709

Subventions

Organisme : NCI NIH HHS
ID : P50 CA098131
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR002243
Pays : United States

Informations de copyright

© 2020 National Society of Genetic Counselors.

Références

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Auteurs

Deborah Cragun (D)

College of Public Health, University of South Florida, Tampa, FL, USA.

Anne Weidner (A)

Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.

Ann Tezak (A)

Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.

Kate Clouse (K)

Vanderbilt Institute for Global Health, Vanderbilt University School of Nursing, Nashville, TN, USA.

Tuya Pal (T)

Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.

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