Unlocking the Potential of Genetic Research in Pulmonary Arterial Hypertension: Insights from Clinicians, Researchers and Study Team

Background While genetics has been incorporated into various subspecialties of medicine for some time, the significance of genetic research and testing in understanding the fundamental mechanisms of Pulmonary Arterial Hypertension (PAH) and formulating effective treatment approaches has only recently come to the forefront. We aimed to explore how attitudes toward genetic research among clinical and research teams impacted the engagement in genetic research and the integration of genetic insights into clinical practice. Methods Participants were selected from the National Institute for Health Research BioResource Rare Diseases study (NBR) and the Cohort study of idiopathic and heritable PAH (the PAH Cohort), representing a range of roles, ages, genders, and mutation statuses. We conducted a total of 53 semi-structured interviews and focus groups involving a total of 63 patients, clinicians, and researchers from nine UK PH centres. Following the principles of Grounded Theory, interview transcripts were thematically coded by two authors using MAXQDA (2022) software. In this paper, we focus on the researchers’, clinicians’ and study team’s perspectives. Results From the interview data, several key themes emerged, ranging from study design, recruitment and consent procedures to the return of individual genetic results. Additionally, participants reflected on both the successes of these studies and the future directions of genetic research. The analysis highlighted the critical importance of fostering collaborative networks firmly rooted in existing clinical and research infrastructure in rare disease study setups. Furthermore, the significance of trust-building, personalised communication, and transparency among stakeholders was underscored. The study offered valuable insights into the motivating and hindering factors to participant recruitment and consent procedures. Lastly, the findings gathered from processes surrounding the return of individual genetic results, genetic counselling, and the recruitment of relatives provided invaluable lessons regarding the integration of genetics into clinical practice. Conclusions This in-depth analysis yields a crucial understanding of attitudes to genetic research among various stakeholders and sheds light on the complexities of genetic research and the evidence-practice gap.