Interviews into attitudes to genetic research in PAH
Research type
Research Study
Full title
Interviews into attitudes to genetic research in Pulmonary Arterial Hypertension (PAH)
IRAS ID
317047
Contact name
Emilia Maria Swietlik
Contact email
Sponsor organisation
Cambridge University hospitals NHS Foundation Trust and the University of Cambridge
Duration of Study in the UK
1 years, 0 months, 1 days
Research summary
Why?
Idiopathic and heritable forms of pulmonary arterial hypertension (PAH) are devastating conditions associated with high morbidity and mortality. Approximately, 25% of patients with idiopathic and 70% of those with a heritable form of the disease harbour mutations in genes associated with PAH. Both the NIHR BioResource Rare Diseases Study and the National Cohort Study of Idiopathic and Heritable PAH aimed at recruiting patients with PAH to examine the genetic architecture of the disease and resulted in new discoveries. Despite these discoveries, treatments based on genetic targets are lagging behind. One of the reasons for that is the high complexity of the organisation of the human body. This complexity can be elucidated by recall-by-genotype studies, whereby a detailed study of the mutation carriers can help understanding the relationship between genotype and phenotype in a cost-effective fashion. The success of such studies requires patients’ and relatives' involvement and long-term commitment. Thus, understanding knowledge and attitudes to genetic research among participants are of utmost importance.What?
Our study was designed to learn about patients' attitudes to genetic research. We also plan to perform focus groups among PH Teams to explore knowledge and attitudes toward genetic research.Who?
We plan to recruit PAH patients/caregivers (n=20) with or without genetic diagnosis and their relatives (n=10) as well as PH physicians and nurses who look after patients with PAH and had an opportunity to participate in either or both of the above-mentioned studies.Where?
Participants will be recruited from 9 PH Centres in the UK.How?
The study will last until March 2022 and will consist of a one-off interview with patients, caregivers, relatives, and focus groups with PH Teams.REC name
North of Scotland Research Ethics Committee 1
REC reference
22/NS/0127
Date of REC Opinion
8 Sep 2022
REC opinion
Favourable Opinion