Title: Increasing the uptake of cardiac screening and/or predictive genetic testing for inherited cardiac conditions utilising a psychoeducational intervention
Funder: Health Education England

Abstract: Background It is estimated that about 340,000 individuals in the UK are affected by inherited cardiac conditions (ICCs) and it is a major cause of sudden death in the young. At-risk family members can avail of cardiac screening and/or predictive genetic testing for ICCs, however, the Department of Health has noted that although there is wider availability of preventative therapies for morbidity and risk of sudden death in ICCs, the uptake of screening is poor and there is a significant cost to the NHS with preventable ICC episodes amounting to 20,000 per event. The negative psychosocial impact of undergoing cardiac screening and/or predictive genetic testing for patients and their families have been reported and little is known about the impact of the clinician/patient interaction on patient decision-making, coping and psychosocial well-being. Therefore, there is a need to improve the evidence-base and develop interventions for the overall care and support that these patients require. Aims and research question The aims of the fellowship include 1) to establish an evidence base for a psychoeducational intervention to support decision-making in patients undergoing cardiac screening and/or genetic testing for ICCs 2) to develop and model this intervention utilising Self Determination Theory as a theoretical framework (SDT) and 3) to undertake a feasibility study for the intervention. Thus, the main research question is: In asymptomatic patients undergoing cardiac screening and/or predictive genetic testing for ICCs, can a psychoeducational intervention to support decision-making be developed, which is feasible for use in current practice and acceptable to patients? Plan of investigation The research will be conducted in 3 phases using the methodology described in the Medical Research Council's (MRC) framework for developing and evaluating complex interventions. In Phase 1, the evidence base for the psychoeducational intervention will be established with a systematic review of the guidelines on the care of patients with ICCs. Developing and modeling of the intervention will be undertaken in Phase 2 using the evidence from Phase 1 and the analysis of the transcripts from patient focus groups/interviews underpinned by SDT. The Delphi method will be utilised to arrive at a consensus within the patient and expert advisory group to refine the intervention model. In Phase 3, a Randomised Control Trial (RCT) design will be used to test the feasibility of delivering the intervention and acceptability to patients. The expected outcomes of the fellowship include developing the evidence base and model for the psychoeducational intervention underpinned by SDT and the results of the feasibility study will inform a definitive clinical trial for the intervention. Potential benefits to patients and the NHS The findings of this fellowship will benefit patients and service delivery in the NHS by building the evidence base from which clinicians provide psychosocial care and support required by patients with ICCs and their families. A feasible and acceptable psychosocial intervention has great potential in improving the therapeutic relationship between clinicians and patients, facilitate informed decision-making and promote psychosocial well-being. This will in turn, decrease costs to the health service by improving the communication and uptake of the preventative measures for ICCs.

Lay abstract: Heart conditions that run in the family can affect the heart muscle and heart rhythm and are a major cause of sudden death in individuals under the age of 40. It is estimated that around 340,000 individuals are affected in the UK and the cost to the NHS is significant at 20,000 per patient episode that could have been prevented. Family members who may be at risk can be checked for these conditions either through screening with a number of tests such as having a heart scan, heart tracing, going on a running machine and/or having a blood test to see if they are a carrier of a genetic trait that causes these conditions. This is now easily available because medications and devices to prevent symptoms and sudden death are now available but the uptake of these services is not widespread. Patients often find undergoing these tests stressful and are worried not just for their own health but also worry about the impact the result will have on their family. Little is known about how clinicians work with patients to support decision-making in this situation and clinicians' behaviour may affect how patients feel or take steps to reduce their risk. By conducting an in-depth study of the patient and family experience when they undergo the heart screening and/or the genetic testing process we aim to establish a knowledge base for the needs of this patient group. Based on this new information, a psychoeducational intervention will be developed and tested, which will help clinicians and patients work together better in order to support decision-making, minimise stress and anxiety and improve the patient experience. The fellowship will have three phases and encompass the following activities: 1) gathering evidence by reviewing published material on the care for patients with inherited heart conditions 2) developing the psychoeducational intervention using the evidence from Phase 1 and conducting group discussions/interviews with patients and 3) determining the feasibility of delivering the psychoeducational intervention and assessing acceptability to patients. The results of this fellowship will make way for a larger study to assess the effectiveness of the psychoeducational intervention. An effective intervention will enhance the ability of patients affected by inherited heart conditions to make decisions about their care, minimise stress and anxiety and promote optimal quality of life. All throughout the fellowship, a patient advisory group will be consulted to provide guidance to ensure that the research is patient and family-focused. They will also be instrumental in sharing the updates and results of the research to other patients, support groups and other interested parties.

Research activity codes: 6.6 PSYCHOLOGICAL AND BEHAVIOURAL;5.6 PSYCHOLOGICAL AND BEHAVIOURAL
Health categories: CARDIOVASCULAR