Family screening in Inherited Cardiac Conditions (ICCs): The usefulness of registries and the exploration of a new intervention to help patients make autonomous health care decisions.

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. The wider availability of preventative therapies for morbidity and risk of sudden death in ICCs has increased the number of family members seeking cardiac screening and/or predictive genetic testing. These patients undergo a number of tests and may need continued follow up during their lifetime. Registries for ICCs have been established by a number of centres to ensure that patients undergo complete screening and are not lost to follow up. Registries have also become an important tool for research.

Furthermore, although many patients affected or at-risk for ICCs may remain asymptomatic, the negative psychosocial impact of undergoing these tests has been reported and little is known about the impact of the clinician/patient interaction on patient decision-making, coping and psychosocial well-being. The scholar is currently developing a PhD research proposal to develop a psychoeducational intervention to support this process.

The aim of the Travel Scholarship was to share best practice within a specialist ICC clinic, gain information on the benefits to patient care of maintaining a registry and to have expert input into developing a psychoeducational intervention to support autonomous decision-making for patients with or at-risk for ICCs. Visits to centres in Canada (Ottawa and Vancouver) and Australia (Brisbane and Sydney) where there is an active and established patient registry for ICCs were undertaken as well as a visit to a world expert in Self-Determination Theory at the University of Ottawa.

The key findings of the various interactions include 1) Clinical services provided in specialist ICC clinics are similar to the UK but clinics tend to be smaller and family members have easier access to screening 2) It is feasible to establish and maintain a comprehensive registry for ICC patients, however, it is more likely to be possible in a clinical academic institution which combines its use with research studies 3) ICC registries provide robust information for clinical care, research and can ensure patient recall when follow up is required 4) Self Determination Theory can be used as a theoretical framework to develop a psychoeducational intervention which can help patients with or at-risk for ICCs make autonomous decisions about their care.

This body of work will be disseminated initially to the clinical team to adapt the findings to enable improved patient care for ICC patients and their families. It is hoped that the findings will be published in a national or international publication and also presented in the appropriate conferences and forums to maximise dissemination and impact on patient care.