Assessing Genetics Providers' Perspectives of and Experiences with DTC Genetic Testing: Creation of an Educational Module
type: CreativeWork
description: 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 kn…
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 kn…
author: Bettinelli, Audra Lea
keywords: Genetics and Genomics, Life Sciences, Direct-to-Consumer Genetic Testing, Genetic counseling, Genetic Testing, genomic testing, Health education, personal genome testing
date published: 2012-01-01T08:00:00Z
date modified: 2026-07-24T04:38:07Z
provider: University of South Carolina
publisher: Networked Digital Library of Theses and Dissertations
type: WebPage
source organization: University of South Carolina