Referencing BRCA in hereditary cancer risk discussions: In search of an anchor in a sea of uncertainty

As panel testing and exome sequencing are increasingly incorporated into clinical care, clinicians must grapple with how to communicate the risks and treatment decisions surrounding breast cancer genes beyond BRCA1 and BRCA2. In this paper, we examine clinicians' practice of employing BRCA1 and...

Full description

Saved in:
Bibliographic Details
Published in:Journal of genetic counseling 2020-12, Vol.29 (6), p.949-959
Main Authors: Waltz, Margaret, Prince, Anya E. R., O'Daniel, Julianne M., Foreman, Ann Katherine M., Powell, Bradford C., Berg, Jonathan S.
Format: Article
Language:English
Subjects:
Adult
Aged
BRCA1 and BRCA2
BRCA1 protein
BRCA2 protein
Breast cancer
Breast Neoplasms - genetics
Clinical decision making
Decision making
ethics
Exome Sequencing
Female
Genes
Genes, BRCA1
Genes, BRCA2
genetic counseling
Genetic Predisposition to Disease
Genetics
Genotype
Humans
Mass media
Medical ethics
Middle Aged
Mutation
Ovarian cancer
Patients
Reassurance
Uncertainty
Women
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:As panel testing and exome sequencing are increasingly incorporated into clinical care, clinicians must grapple with how to communicate the risks and treatment decisions surrounding breast cancer genes beyond BRCA1 and BRCA2. In this paper, we examine clinicians' practice of employing BRCA1 and BRCA2 to help contextualize less certain genetic information regarding cancer risk and the possible implications of this practice for patients within the context of an exome sequencing study, NCGENES. We audio‐recorded return of results appointments for 14 women who participated in NCGENES, previously had breast cancer, and were suspected of having a hereditary cancer predisposition. These patients were also interviewed four weeks later regarding their understanding of their results. We found that BRCA1 and BRCA2 were held as the gold standard, where clinicians compared what is known about BRCA to the limited understanding of other breast cancer‐related genes. BRCA1 and BRCA2 were used as anchors to shape patients' understandings of genetic knowledge, risk, and management, illustrating how the information clinicians provide to patients may work as an external anchor. Yet, presenting BRCA1 and BRCA2 as a means of scientific reassurance can run the risk of patients conflating knowledge about certainty of risk with degree of risk after receiving a result for a moderate penetrance gene. This can be further complicated by misperceptions of the precision of cancer predictability attributed to these or other described ‘cancer genes’ in public media.
ISSN:1059-7700
1573-3599
DOI:10.1002/jgc4.1219