Illustrating Cancer Risk: Patient Risk Communication Preferences and Interest regarding a Novel BRCA1/2 Genetic Risk Modifier Test.
Genetic testing
Hereditary breast and ovarian cancer
Polygenic risk score
Qualitative methods
Risk communication
Journal
Public health genomics
ISSN: 1662-8063
Titre abrégé: Public Health Genomics
Pays: Switzerland
ID NLM: 101474167
Informations de publication
Date de publication:
2020
2020
Historique:
received:
11
07
2019
accepted:
10
01
2020
pubmed:
20
3
2020
medline:
22
12
2020
entrez:
20
3
2020
Statut:
ppublish
Résumé
Genetic risk modifier testing (GRMT), an emerging form of genetic testing based on common single nucleotide polymorphisms and polygenic risk scores, has the potential to refine estimates of BRCA1/2 mutation carriers' breast cancer risks. However, for women to benefit from GRMT, effective approaches for communicating this novel risk information are needed. To evaluate patient preferences regarding risk communication materials for GRMT. We developed four separate presentations (panel of genes, icon array, verbal risk estimate, graphical risk estimate) of hypothetical GRMT results, each using varying risk communication strategies to convey different information elements including number of risk modifier variants present, variant prevalence among BRCA1/2 carriers, and implications and uncertainties of test results for cancer risk. Thirty BRCA1/2 carriers evaluated these materials (randomized to low, moderate, or high breast cancer risk versions). Qualitative and quantitative data were obtained through in-person interviews. Across risk versions, participants preferred the presentation of the graphical risk estimate, often in combination with the verbal risk estimate. Interest in GRMT was high; 76.7% of participants wanted their own GRMT. Participants valued the potential for GRMT to clarify their cancer susceptibility and provide actionable information. Many (65.5%) anticipated that GRMT would make risk management decisions easier. Women with BRCA1/2 mutations could be highly receptive to GRMT, and the minimal amount of necessary information to be included in result risk communication materials includes graphical and verbal estimates of future cancer risk. Findings will inform clinical translation of GRMT in a manner consistent with patients' preferences.
Identifiants
pubmed: 32191943
pii: 000505854
doi: 10.1159/000505854
pmc: PMC7272266
mid: NIHMS1564289
doi:
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
6-19Subventions
Organisme : NCI NIH HHS
ID : P30 CA008748
Pays : United States
Organisme : NCI NIH HHS
ID : R21 CA230879
Pays : United States
Informations de copyright
© 2020 S. Karger AG, Basel.
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