Date of Award
5-2024
Document Type
Dissertation
Degree Name
Doctor of Philosophy (PhD)
Department
Healthcare Genetics
Committee Chair/Advisor
Dr. Stephanie Davis
Committee Member
Dr. Kim A. Pickett
Committee Member
Dr. Doralyn Jones
Committee Member
Dr. Sara Sarasua
Abstract
In recent years, individuals have become interested in what insights direct-to-consumer genetic testing (DTCGT) can offer about their health. These individuals are recommended to discuss their concerns with a healthcare professional, yet most primary care professionals do not have a genetics-focused practice. This dissertation comprises five chapters to describe the integration of DTCGT results into a patient visit. Chapter I discusses the expanding demand between patients with questions about their DTCGT results and the health professionals who have been tasked to interpret these results. Chapter II is a systematic literature review that identifies what health professionals think about results from non-clinical genetic testing companies and the reasons that they are reluctant to discuss DTCGT results with patients. The literature leads to two main barriers to acceptance of DTCGT: lack of genetic/genomic literacy and the doubtfulness of clinical utility. Healthcare professionals are also concerned about legal and ethical issues that have not been addressed with DTCGT. There may be more acceptance of DTCGT in clinical practice if clinical professional societies or regulatory commissions created guidelines to its use. Chapter III is composed of the results of a survey given to osteopathic medical students that asks about their current knowledge, attitudes, and perceptions of DTCGTs. The findings show that the students were uncomfortable with the idea of discussing DTCGT results with patients due to their perceived lack of knowledge of the subject matter. The majority of students were willing to learn more about DTCGT and how it could be integrated into patient care. This sentiment mirrored the literature on established healthcare professionals.
Chapter IV describes the creation of an online training module to prepare osteopathic medical students for productive interactions with patients who have questions about their DTCGT results. This module was built to bring awareness to common clinical scenarios as well as give students applicable communication points using a virtual standardized patient. As assessed through a pre and post-survey, not only did the module enhance relevant vocabulary, but it also boosted confidence in handling patient interactions versus immediately referring patients to a genetic counselor.
Chapter V is a consolidation of the findings from Chapters II-IV. The systematic literature review and the online survey reveal that medical professionals with minimal genetic/genomic education have some trepidation about discussing DTCGT results with patients. The online training module shows that even a brief exercise can increase student awareness of how DTCGT can impact a patient’s view on personal health goals. All three components (the systematic review, the survey, and the module) show that medical students are ready to learn how to integrate DTCGT results into clinical practice.
Recommended Citation
Glenn, Kanesha, "Promoting the Integration of Direct-to-Consumer Genetic Testing Results Into Clinical Practice" (2024). All Dissertations. 3559.
https://tigerprints.clemson.edu/all_dissertations/3559
Author ORCID Identifier
0000000276350504