Date of Award

1-1-2012

Document Type

Campus Access Thesis

Department

Genetic Counseling

First Advisor

Andrea A Sellers

Abstract

Purpose: Direct-to-consumer genetic testing exemplifies the evolution of the medical genetics field towards more encompassing genomic medicine and the implementation of personalized medicine. This "at home" type of genetic testing can be ordered from the Internet and mailed for analysis without the involvement of healthcare professionals. These tests indicate certain DNA changes (single-nucleotide polymorphisims or SNPs) associated with individual variation between physical traits, health conditions, or increased risk for disease susceptibility. Concerns about the clinical validity and utility of DTC genetic testing have arisen as well as potential misinterpretation of results by consumers. Furthermore, several studies have confirmed that healthcare providers are not well-educated about DTC genetic testing (Hock et al., 2011; Kolor, Liu, St. Pierre, & Khoury, 2008; Powell et al., 2012; Ormond et al., 2011). The purpose of this study was to evaluate genetics providers' personal experiences with and perspectives of DTC genetic testing as well as their preferences about the content and format of an educational module. The goal of our study was to create an educational module about DTC genetic testing for use by healthcare professionals for self-education or in assisting with patients' results interpretation. Method: Practicing genetics providers including genetic counselors, clinical geneticists, molecular geneticists, and cytogeneticists (N = 98) from across the United States completed an online survey to address the goals of this study. Results: Of all respondents, 100% agreed that genetics providers have a professional responsibility to educate themselves about DTC genetic testing. Furthermore, the majority (75%) agreed that genetics providers have a responsibility to help individuals understand the results from a personal genome test, even if they did not order the test. Approximately half (53%) of respondents agreed that genetics providers currently have enough knowledge to help individuals interpret the results of personal genome tests. Only 20% of respondents agreed that genetics providers have access to concise educational tools to educate themselves about DTC genetic testing. Conclusions: As DTC genetic testing continues to allow consumers to access personal genome information, genetics providers and other healthcare professionals must be prepared to assist in results interpretation. Our study revealed that genetics providers feel professional responsibility to educate themselves and other healthcare professionals about DTC genetic testing and help patients understand their results, but that concise educational materials are not readily available for this purpose. Providing this resource is a desirable and necessary service. Based on data collected from this study, we have created educational modules about DTC genetic testing for the use of genetics providers and general healthcare professionals.

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