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. 2024 Feb 15;14(1):e12346.
doi: 10.1002/pul2.12346. eCollection 2024 Jan.

Understanding what drives genetic study participation: Perspectives of patients, carers, and relatives

Emilia M Swietlik  1   2 , Michaela Fay  3 , Nicholas W Morrell  1
Affiliations

Understanding what drives genetic study participation: Perspectives of patients, carers, and relatives

Emilia M Swietlik et al. Pulm Circ. .

Abstract

Genetic research's growing importance in understanding pulmonary arterial hypertension (PAH) and developing effective treatments prompted the RAPID-PAH study. This study sought feedback from stakeholders who participated in two genomic studies to enhance genetic study delivery and clinical integration. Stakeholders from nine UK PH centres, representing various roles, ages, genders, and mutation statuses, took part in 53 semi-structured interviews and focus groups. Transcripts were thematically coded using inductive analysis. Clustering analysis was conducted to identify patient groups that shared attitudes. In this paper, we focus on patients', carers', and relatives' perspectives. The key interview themes revealed insights into participants' attitudes toward genetic research and testing more generally, expertise and knowledge of the disease itself, motivations and barriers to participating in genetic research, awareness of and interest in consent procedures and the use of personal and genetic data, as well as the process of communicating individual genetic results. Factors influencing genetic research participation included altruistic motives, personal diagnostic experiences, and family-related hopes. Clustering analysis produced distinct clusters based on the presence of barriers and motivators for research participation; however, hardly any patients shared identical sets of attitudes, emphasising the need for personalised approaches to recruitment. Most patients reported poor engagement with study-related materials. Patients who received individual genetic results expressed satisfaction with the process, whereas those who did not were disappointed with the lack of feedback. Reflecting on patient perspectives, we offer recommendations to improve the genetic study delivery process. Enhancing genetic research integration into clinical practice requires tailored engagement, clear communication, and support from healthcare stakeholders.

Keywords: genetic research; informed consent; motivations and barriers to participation; pulmonary arterial hypertension; return of individual genetic results.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Depiction of the geographical distribution of participants in (a) the NIHR BioResource Rare Disease study and the National Cohort Study of idiopathic and heritable pulmonary arterial hypertension (PAH), (b) in the RAPID‐PAH study. The size of the plotting character represents the participant count, (c) Consort diagram of RAPID PAH, (d) Demographic characteristics of participants.
Figure 2
Figure 2
Barplots display (a) the rationales behind patient participation and (b) the barriers to patient participation. Partitioning around medoids clustering based on the existence of codes on (c) motivation to participate (d) barriers to participation. Matrix presenting clusters distinguished by the presence of codes related to motivation for participation (e), and participation barriers (f), employing PAM clustering. The “Motivations” and “Barriers” columns display the segment distribution for a specific code among each patient, indicating the count of segments associated with that particular code. PAM, partitioning around medoids.
See this image and copyright information in PMC

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