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MANUSCRIPT FINAL FINAL 04172024.pdf (867.89 KB)

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An exploration of patient preferences of genetic testing result disclosure for Huntington’s disease in the context of the 21st Century Cures Act

Winterbottom, Jennifer
http://orcid.org/0009-0009-7895-4561
http://rave.ohiolink.edu/etdc/view?acc_num=osu1713381315293015

Abstract Details

2024, Master of Science, Ohio State University, Genetic Counseling.
Background: Huntington’s disease (HD) is a progressive neurological disease that is inherited in an autosomal dominant pattern caused by polyglutamine repeat expansions within the HTT gene. Symptoms can include involuntary movements called chorea, cognitive decline, and mood instability. Additionally, those with HD have an increased risk of suicide, especially at the time of diagnosis. Genetic testing can be completed in the form of predictive testing, when an individual is asymptomatic, or confirmatory testing, when an individual has symptoms suggest of HD and a diagnosis needs to be confirmed. The Huntington’s Disease Society of America (HDSA) genetic testing protocol aims to protect patient safety and well-being, which recommends genetic testing result disclosure occur in person. The 21st Century Cures Act is a law, enacted in 2016, that mandates automatic releases of healthcare information to a patient’s electronic portal at the same time they are available to the provider. The automatic release of genetic testing results for HD poses possible psychological distress and physically harmful implications for individuals. Current literature lacks research surrounding patient preferences of result disclosure for genetic testing for HD, specifically in the context of the 21st Century Cures Act. Methods: Participants were recruited via MyChart (from an IHIS query) that were seen at OSU Wexner Medical Center between January 1, 2018 and August 1, 2023. Additionally, participants were approached for study participation at their follow up visits at the HD Clinic at OSU Wexner Medical Center. The study team distributed an anonymous 28 question survey to participants that had previously undergone genetic testing for HD with the aim of understanding their experiences of genetic testing as well as to see if there was a difference in result disclosure preference based on result type. To represent the 21st Century Cures Act, participants were asked to consider a hypothetical scenario where they received their genetic testing result automatically to their portal prior to having their provider explain the result to them. Results: Seventy-seven responses were used for data analysis. There was no significant difference between result type and preference for result disclosure, however, trends suggest that participants from this cohort preferred in-person result disclosure, 49/77 (64%). The most selected response reported by participants preferred to receive results from a genetic counselor, 28/77 (36%). There was a significant difference in level of understanding of genetic test results for those that met with a genetic counselor (p=0.038) when compared to those that did not meet with a genetic counselor. Anxiety was a commonality experienced by this group of participants, and the highest percentage of participants reported that the hypothetical automatic release of HD genetic test results to their portal would make them feel extremely anxious, 21/77 (27%). Conclusion: The data produced by this study suggest that patient preferences for HD genetic testing result disclosure generally align with the HDSA protocol recommendations, for in-person result disclosure. These findings potentially highlight the need for careful consideration of the mode of delivery of genetic testing results for HD.
Victoria Klee, MS, CGC (Advisor)
Matthew Avenarius, PhD, FACMG (Committee Member)
Jordan Brown, MS, MA, CGC (Committee Member)
79 p.
Genetics
Huntington's disease, genetics, genetic testing, predictive testing, HD, release of results, anxiety, 21st century cures act, automatic release of results, patient preferences

Recommended Citations

Citations

  • Winterbottom, J. (2024). An exploration of patient preferences of genetic testing result disclosure for Huntington’s disease in the context of the 21st Century Cures Act [Master's thesis, Ohio State University]. OhioLINK Electronic Theses and Dissertations Center. http://rave.ohiolink.edu/etdc/view?acc_num=osu1713381315293015

    APA Style (7th edition)

  • Winterbottom, Jennifer. An exploration of patient preferences of genetic testing result disclosure for Huntington’s disease in the context of the 21st Century Cures Act. 2024. Ohio State University, Master's thesis. OhioLINK Electronic Theses and Dissertations Center, http://rave.ohiolink.edu/etdc/view?acc_num=osu1713381315293015.

    MLA Style (8th edition)

  • Winterbottom, Jennifer. "An exploration of patient preferences of genetic testing result disclosure for Huntington’s disease in the context of the 21st Century Cures Act." Master's thesis, Ohio State University, 2024. http://rave.ohiolink.edu/etdc/view?acc_num=osu1713381315293015

    Chicago Manual of Style (17th edition)

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© 2024, all rights reserved.
This open access ETD is published by The Ohio State University and OhioLINK.