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Clinical Practices of Neurologists Related to Predictive Testing of Presymptomatic Patients At Risk for Huntington Disease

Bradley, India
http://rave.ohiolink.edu/etdc/view?acc_num=ucin1406900839

Abstract Details

2014, MS, University of Cincinnati, Medicine: Genetic Counseling.
Huntington disease (HD) is a neurodegenerative condition that results in a progressive movement disorder accompanied by psychiatric alterations and cognitive impairment. The availability of a predictive genetic test for HD raised moral and ethical concerns in the health care community, prompting organizations to establish testing guidelines. The primary aim of this study was to determine if neurologists offer predictive testing to presymptomatic patients at risk for HD. Neurologists were chosen because they see patients with a diagnosis of HD, however it is unclear if they also see individuals at risk for the disease. The secondary aims were to determine the clinical practices neurologists follow during the predictive testing process (pretest counseling and practices, posttest disclosure practices and willingness to facilitate testing), and to assess the frequency with which these practices occur and learn if neurologists were familiar with the 2012 European Huntington Disease Network (EHDN) recommendations. Neurologists from the International Parkinson and Movement Disorder Society who are currently practicing in the United States were surveyed. The survey questions were based on recommendations from the 2012 EHDN guidelines, the most up to date recommendations for predictive testing for HD. One hundred thirty one surveys met inclusion criteria for this study (response rate of 10.5%). Two thirds of neurologists (64.1%) report that they have ordered predictive testing for HD. The pretest practices with the lowest reported frequencies include requiring a psychiatric consultation (32.9%) and requiring a one month waiting period before ordering testing (34.2%). The lowest posttest practice was contacting a patient with a normal result after results disclosure (26%). Thirty four percent of neurologists who report ordering predictive testing for HD also report that they were familiar with the 2012 EHDN guidelines. Our findings suggest that familiarity with guidelines appears to be a factor that impacts the frequency with which neurologists incorporate certain clinical practices, such as discussing variable test results and the potential for anticipation into their testing protocol. Future studies are needed to determine whether adherence to specific clinical practices and established guidelines for predictive genetic testing for HD are associated with improved patient care or outcomes.
Thomas Burrow, M.D. (Committee Chair)
Erin Acra Mundt, M.S. (Committee Member)
Kathleen Collins, M.S. (Committee Member)
Hua He, M.S. (Committee Member)
Fredy Revilla, M.D. (Committee Member)
33 p.
Genetics
Huntington Disease; Guidelines; EHDN; Predictive Testing; Neurologists; Genetic Testing

Recommended Citations

Citations

  • Bradley, I. (2014). Clinical Practices of Neurologists Related to Predictive Testing of Presymptomatic Patients At Risk for Huntington Disease [Master's thesis, University of Cincinnati]. OhioLINK Electronic Theses and Dissertations Center. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1406900839

    APA Style (7th edition)

  • Bradley, India. Clinical Practices of Neurologists Related to Predictive Testing of Presymptomatic Patients At Risk for Huntington Disease. 2014. University of Cincinnati, Master's thesis. OhioLINK Electronic Theses and Dissertations Center, http://rave.ohiolink.edu/etdc/view?acc_num=ucin1406900839.

    MLA Style (8th edition)

  • Bradley, India. "Clinical Practices of Neurologists Related to Predictive Testing of Presymptomatic Patients At Risk for Huntington Disease." Master's thesis, University of Cincinnati, 2014. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1406900839

    Chicago Manual of Style (17th edition)

ucin1406900839
298
© 2014, some rights reserved.Creative Commons License Clinical Practices of Neurologists Related to Predictive Testing of Presymptomatic Patients At Risk for Huntington Disease by India Bradley is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 3.0 Unported License. Based on a work at etd.ohiolink.edu.
This open access ETD is published by University of Cincinnati and OhioLINK.