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Pulmonary Arterial Hypertension: Specialists’ Knowledge, Practices, and Attitudes of Genetic Testing and Genetic Counseling

Jacher, Joseph E, B.A.

Abstract Details

2015, MS, University of Cincinnati, Medicine: Genetic Counseling.
Background: Pulmonary Arterial Hypertension (PAH) is a disease that is characterized by obstruction of pre-capillary pulmonary arteries which leads to sustained elevation of pulmonary arterial pressure (mean >25 mm Hg at rest or >30 mm Hg during exercise). Early interventions have potential to help to mitigate the disease course if the individual is known to be at risk through diagnostic methods such as genetic testing. Current practice guidelines, which were created over 10 years ago, recommend genetic counseling and the option of genetic testing to individuals with heritable PAH, idiopathic PAH, and their family members. However, it is unclear if PAH specialists follow these recommendations. Thus, the objective of this research was to determine the utilization, knowledge, and perceptions about genetic counseling and genetic testing of PAH specialists. Methods: A survey was designed to evaluate PAH specialists’ knowledge about the genetics of PAH as well as their practices and attitudes about genetic testing and genetic counseling for PAH. These PAH specialists include clinicians, health care coordinators, and researchers. The survey was distributed at the 2014 Pulmonary Hypertension Association International Conference and Scientific Sessions as well as online to members of the Pulmonary Hypertension Clinicians and Researchers and the Pulmonary Hypertension Professional Network via an email listserv. Parametric and non-parametric statistics were used to analyze responses, with comparisons of groups performed using the Wilcoxon rank sum test. Results: PAH specialists had low perceived and actual knowledge of the genetics of PAH with only 13.2% perceiving themselves as knowledgeable and 27% being knowledgeable. Although these specialists have positive or ambivalent attitudes about genetic testing and genetic counseling, they have poor utilization of these two genetic services. Physicians, who would be the primary specialists to utilize these genetic services, have both lower utilization of and perceptions of the value of genetic testing and genetic counseling than non-physicians. Conclusion: Taken together our results suggest that increased education and awareness is needed about the genetics of PAH as well as the benefits of genetic testing and genetic counseling for individuals who treat patients with PAH.
Bill Nichols, Ph.D. (Committee Chair)
Lisa Martin, Ph.D. (Committee Member)
39 p.

Recommended Citations

Citations

  • Jacher, J. E. (2015). Pulmonary Arterial Hypertension: Specialists’ Knowledge, Practices, and Attitudes of Genetic Testing and Genetic Counseling [Master's thesis, University of Cincinnati]. OhioLINK Electronic Theses and Dissertations Center. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1427797616

    APA Style (7th edition)

  • Jacher, Joseph. Pulmonary Arterial Hypertension: Specialists’ Knowledge, Practices, and Attitudes of Genetic Testing and Genetic Counseling. 2015. University of Cincinnati, Master's thesis. OhioLINK Electronic Theses and Dissertations Center, http://rave.ohiolink.edu/etdc/view?acc_num=ucin1427797616.

    MLA Style (8th edition)

  • Jacher, Joseph. "Pulmonary Arterial Hypertension: Specialists’ Knowledge, Practices, and Attitudes of Genetic Testing and Genetic Counseling." Master's thesis, University of Cincinnati, 2015. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1427797616

    Chicago Manual of Style (17th edition)