Referencing BRCA in hereditary cancer risk discussions: In search of an anchor in a sea of uncertainty.
Margaret WaltzAnya E R PrinceJulianne M O'DanielAnn Katherine M ForemanBradford C PowellJonathan S BergPublished in: Journal of genetic counseling (2020)
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.
Keyphrases
- end stage renal disease
- newly diagnosed
- breast cancer risk
- ejection fraction
- chronic kidney disease
- prognostic factors
- palliative care
- primary care
- type diabetes
- mental health
- papillary thyroid
- metabolic syndrome
- skeletal muscle
- pregnant women
- copy number
- adipose tissue
- insulin resistance
- single cell
- health insurance
- preterm birth
- lymph node metastasis
- pregnancy outcomes
- gestational age