Date of Award

Spring 2021

Document Type

Open Access Dissertation

Department

Genetic Counseling

First Advisor

Amelia C. Wardyn

Abstract

Genetic testing is becoming increasingly used to detect individuals who are predisposed to developing cancer. If genetic testing identifies a variant in an individual’s DNA, the testing laboratory uses available data to classify the variant as either disease-causing or benign. When limited data is available regarding a variant’s pathogenicity and the risk of cancer for an individual is not clear, the variant is classified as a “variant of uncertain significance” (VUS). If new data is discovered, the VUS may be reclassified. There is a gap in current literature regarding desired communication for a reclassified genetic test result. There are no standard guidelines for healthcare providers regarding communication of a reclassified VUS result. This study aimed to explore communication preferences of past Prisma Health patients with a VUS result on cancer genetic testing. A total of 34 participants responded to the anonymous online questionnaire. Participants reported telephone call by a genetic counselor as the most preferred communication for an upgraded VUS result and a letter in the mail as the most preferred communication for a downgraded VUS result. There was no significant difference in communication preferences for upgraded versus downgraded VUS results. A majority of participants reported mild concern regarding their VUS result. Overall, this study determined that patients want to be contacted regarding a reclassified VUS result, but there is no clear consensus on the most preferred method.

Included in

Genetics Commons

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