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Pulmonary arterial hypertension is a clinical group of rare diseases characterized by the presence of precapillary pulmonary hypertension (PH), provided that there are no other reasons for the development of precapillary PH, such as PH due to respiratory causes and other rare diseases. PAH includes various diseases that have a similar clinical picture and identical morphological changes in the distal pulmonary arteries. The given article addresses the fact that genetic counseling and testing can be one of the key preventative measures. The study focuses on analyzing how PAH specialists perceive genetic counseling as an effective preventative measure. The hypothesis is that PAH specialists possess low knowledge and understanding of the benefits of genetic testing and counseling in regards to PAH treatment.
The given hypothesis was tested by conducting a survey encompassing PAH specialists’ practices, knowledge, and attitudes about the genetic testing applications in treating PAH. The specialists’ responses were evaluated and analyzed using non-parametric and parametric statistics. In addition, the researchers applied the Wilcoxon rank-sum test in order to outline relevant statistical points of interpretation (Jacher, Martin, Chung, Loyd, & Nichols, 2017). The results showed that PAH specialists possessed a low degree of both actual and perceived knowledge of PAH genetics. Four out of five PAH specialists either rarely or never ordered and applied genetic testing methodologies in their PAH treatment practices, which also indicates their lack of knowledge (Jacher et al., 2017).
There are two main questions regarding this study, which focus on specificity and applicability: Is the given phenomenon common among other medical specialties, which are similar to PAH treatment? What type of measures can be taken in order to increase PAH specialists’ competence in genetic counseling?
Jacher, J. E., Martin, L. J., Chung, W. K., Loyd, J. E., & Nichols, W. C. (2017). Pulmonary arterial hypertension: Specialists’ knowledge, practices, and attitudes of genetic counseling and genetic testing in the USA. Pulmonary Circulation, 7(2), 372-383.