Pulmonary arterial hypertension: Specialists’ knowledge, practices, and attitudes of genetic counseling and genetic testing in the USA

Abstract

Pulmonary arterial hypertension (PAH) is characterized by obstruction of pre-capillary pulmonary arteries, which leads to sustained elevation of pulmonary arterial pressure. Identifying those at risk through early interventions, such as genetic testing, may mitigate disease course. Current practice guidelines recommend genetic counseling and offering genetic testing to individuals with heritable PAH, idiopathic PAH, and their family members. However, it is unclear if PAH specialists follow these recommendations. Thus, our research objective was to determine PAH specialists’ knowledge, utilization, and perceptions about genetic counseling and genetic testing. A survey was designed and distributed to PAH specialists who primarily work in the USA to assess their knowledge, practices, and attitudes about the genetics of PAH.Participants’ responses were analyzed using parametric and non-parametric statistics and groups were compared using the Wilcoxon rank sum test. PAH specialists had low perceived and actual knowledge of the genetics of PAH, with 13.2% perceiving themselves as knowledgeable and 27% actually being knowledgeable. Although these specialists had positive or ambivalent attitudes about genetic testing and genetic counseling, they had poor utilization of these genetic services, with almost 80% of participants never or rarely ordering genetic testing or referring their patients with PAH for genetic counseling. Physicians were more knowledgeable, but had lower perceptions of the value of genetic testing and genetic counseling compared to non-physicians (P < 0.05). The 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.

Diagnosis of pulmonary hypertension

“…Recommendations in the USA for PAH genetic screening are largely ignored, misunderstood or unfunded [42]. In contrast, genetic screening and counselling offered by French PH referral centres have identified PAH mutations in 16.9% of presumed sporadic PAH patients, in 89% of patients with a family history [43] and in asymptomatic first-degree relatives of mutation carriers pre-emptively screened.…”

United States Pulmonary Hypertension Scientific Registry (USPHSR): rationale, design, and clinical implications

“…A recent survey underscored the need for increased awareness of the genetics of PAH. 44 In addressing this need, the USPHSR uses several study design features which are unique when compared with past US registries of patients diagnosed with PAH (Table 4).…”

The role of genomics and genetics in pulmonary arterial hypertension

“…Despite recent developments in understanding the genetic background of PAH and the potential therapeutic implications, almost 80% of physicians caring for PAH patients never or rarely refer their patients to genetic counsellors or order genetic testing 190 . At least in the US, the most frequent reasons for that were reported to be lack of insurance coverage and limited access to genetic counsellors.…”

“…At least in the US, the most frequent reasons for that were reported to be lack of insurance coverage and limited access to genetic counsellors. Interestingly, the most important driver for genetic testing was patient inquiry 190 . This situation might be different in Europe where healthcare is publicly funded 191 , but it varies from country to country.…”