Date of Award

2015

Document Type

Open Access Thesis

Department

Genetic Counseling

First Advisor

Peggy Walker

Abstract

Multiplex cancer genetic testing by next generation sequencing (NGS) offers genetic counselors and patients new options for testing multiple genes beyond BRCA1 and BRCA2, increasing both the yield of positive results and the number of variants of uncertain significance (VUS). This pilot study explored three psychosocial questions related to multiplex cancer genetic testing: 1). Do anxiety levels differ in patients with results of familiar single gene testing versus those with results of multiplex cancer genetic testing of unfamiliar genes? 2). Do different results (i.e., negative, positive, or VUS) affect patient anxiety levels in the post-results period? 3). Is patient anxiety affected by the specific gene in which the mutation or VUS is identified? The study included women diagnosed with breast cancer and considered at high risk for a hereditary cancer syndrome due to age or family history. Participants completed a baseline State-Trait Anxiety (STAI) questionnaire at the pre-test genetic counseling session, and completed the same STAI questionnaire and a Multidimensional Impact of Cancer Risk Assessment (MICRA) questionnaire after the post-results discussion. Twenty individuals participated, of which 17 patients completed the baseline STAI tool. Nine participants completed all questionnaires, yielding five participants with negative results, two with positive results, and two with VUS results. Two participants with negative results showed significant baseline anxiety levels which decreased in the post-results period. The positive and VUS result groups showed non-significantly increased mean anxiety levels by STAI. Differences in anxiety between those with positive results and those with negative results trended toward significance. Two individuals with positive mutation results in genes other than BRCA1 and BRCA2 showed higher post-results anxiety levels on the MICRA scale than did two participants with VUS results. The study was limited by sample size. A larger multi-site study is planned to clarify anxiety, distress, and uncertainty parameters to help guide genetic counselors in their approach to psychosocial aspects of multiplex cancer genetic testing.

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