Biomedical
Psychological and health behaviour outcomes following multi-gene panel testing for hereditary breast and ovarian cancer risk: a mini-review of the literature
Peer Reviewed
Abstract
Introduction Knowledge of the genetic mechanisms driving hereditary breast and ovarian cancer (HBOC) has recently expanded due to advances in gene sequencing technologies. Genetic testing for HBOC risk now involves multi-gene panel testing, which includes well characterized high-penetrance genes (e.g. BRCA1 and BRCA2, as well as moderate- and low-penetrance genes. Certain moderate and low penetrance genes are associated with limited data to inform cancer risk estimates and clinical management recommendations, which create new sources of genetic and clinical uncertainty for patients. Purpose The aim of this review is to evaluate the psychological and health behaviour outcomes associated with multi-gene panel testing for HBOC risk. The search was developed in collaboration with an Information Specialist (Princess Margaret Cancer Centre) and conducted in the following databases: MEDLINE, EMBASE, EMCare, PsycINFO, Epub Ahead of Publication. Results Similar to the BRCA1/2 literature, individuals with a pathogenic variant (PV) reported higher levels of testing-related concerns and cancer-specific distress, as well as higher uptake of prophylactic surgery in both affected and unaffected individuals compared to those with variant of uncertain significance (VUS) or negative result. A single study demonstrated that individuals with a PV in a moderate penetrance gene reported higher rates of cancer worry, genetic testing concerns and cancer-related distress when compared to women with high penetrance PV. Analysis of cancer screening and prevention outcomes based upon gene penetrance were limited to two studies, with conflicting findings. Conclusion The findings in this review emphasize the need for studies examining psychological and health behavior outcomes associated with panel testing to include between group differences based upon both variant pathogenicity and gene penetrance. Future studies evaluating the impact of gene penetrance on patient-reported and clinical outcomes will require large samples to be powered for these analyses given that a limited number of tested individuals are found to have a PV.
Key Questions
What psychological impacts are associated with multi-gene panel testing for hereditary breast and ovarian cancer risk?
Individuals with a pathogenic variant (PV) reported higher levels of testing-related concerns and cancer-specific distress compared to those with variants of uncertain significance (VUS) or negative results.
How does the identification of a pathogenic variant influence health behavior decisions?
Those identified with a PV showed higher uptake of prophylactic surgeries, such as mastectomy or oophorectomy, in both affected and unaffected individuals.
What are the implications of finding a variant of uncertain significance (VUS) in genetic testing?
The presence of a VUS can lead to uncertainty in clinical decision-making, potentially affecting psychological well-being and leading to challenges in cancer screening and prevention strategies.
Why is further research needed in the context of multi-gene panel testing outcomes?
The review emphasizes the need for studies examining psychological and health behavior outcomes associated with panel testing to include differences based on both variant pathogenicity and gene penetrance.
