Author ORCID Identifier

0000-0003-3711-1778

Date of Graduation

5-2021

Document Type

Thesis (MS)

Program Affiliation

Genetic Counseling

Degree Name

Masters of Science (MS)

Advisor/Committee Chair

Jessica Corredor, MS, CGC

Committee Member

Syed Hashmi, MD, MPH, Ph.D.

Committee Member

Leslie Dunnington, MS, CGC

Committee Member

Banu Arun, MD

Committee Member

Samantha Montgomery, MS, CGC

Committee Member

Jennifer Czerwinski, MS, CGC

Abstract

Although rare, variant downgrades from a pathogenic/likely pathogenic (P/LP) variant to a variant of uncertain significance can have a significant impact on patients and their families in the clinical cancer setting. However, there is a lack of literature about how to approach these potentially challenging cases as a genetic counselor. Therefore, we aimed to characterize genetic counselors’ experiences, approach, and practices to variant downgrade cases using an online survey. The survey asked participants how they would approach variant downgrade scenarios involving the CDH1 or ATM genes with variable family histories. Genetic counselors appear to be united in whether they would discuss how the variant reclassification was reached, the possibility of another reclassification in the future, and implications for family members across the three variant downgrade scenarios. However, there was variability regarding the management of the proband and the recruitment of family members for family studies of the specific variant between variant downgrade scenarios. This difference in participants’ approach could be attributed to factors such as family history or gene penetrance. Still, participants exhibited the practice-based competencies outlined by ACGC and considered other factors in addition to genetic testing results. We also explored potential challenges that genetic counselors face in variant downgrade cases and found that most genetic counselors agree that counseling a patient who underwent a risk-reducing surgery prior to the variant downgrade (91%) or a patient with a variant downgrade in highly penetrant gene (64%) would be difficult. Common themes in genetic counselors’ experiences with variant downgrades included psychosocial concerns and challenges related to surgery or family history. The genetic testing laboratory that performed testing was the most common resource utilized by genetic counselors during variant downgrade cases. Ultimately, this study provides insight into how counselors approach variant downgrade cases, what challenges can occur, and what resources would be helpful in these cases.

Keywords

Cancer, challenge, resource, workplace practice

Available for download on Saturday, May 07, 2022

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