The problem
People may face difficult personal decisions about their participation in genetic testing for inherited cardiac conditions. Also, the process of family-based ‘cascade screening’ could mean that they may be asked to contact their relatives and pass on information about their condition and genetic testing.

Person centred
The people who are to be offered genetic testing and cascade screening are at the centre of this research. Semi-structured interviews will be conducted with a sample of thirty participants who are offered genetic testing for an inherited heart condition. The aim is to elicit in-depth information about experiences of participating, or reasons for declining participation. Interviews will be piloted with patients who have been already been diagnosed with such a condition and, advice will be sought from relevant patient organisations (including the Genetics Interest Group and SADS). A draft report will be sent to relevant patient organisations to help verify the findings.

Sensitive to personal experience
The interviewer will not know the personal details of the people who have consented to be interviewed. As a result, the interviewee will be free to recount their own experiences of being offered a genetic test and cascade screening.

Ethical analysis
A person may be faced with important social and ethical factors to consider when they are offered a genetic test, or asked to facilitate ‘cascade screening’ in their family. For example, ethical dilemmas may include issues of privacy and confidentiality of ones own health status, both within ones family and society at large (given the implications this may have for insurance or employment prospects). Other dilemmas may surround to disclosure of information to ones relatives and the rights of those other people ‘not to know’. One aim of our study is examine if these social and ethical factors influence an individuals decision to undergo genetic testing, or their willingness to disclose information to their kin. We will do by consulting the people who are faced with these difficult decisions.

Outputs
The findings of this research will be reported to the relevant health professionals and patient groups, and thus contribute to providing appropriate support and assistance for those who are offered genetic testing and asked to disclose information to other family members. Apart from being useful in their own right, the findings will also contribute to a second study that will examine ‘preferences’.

Preferences of Participants in Genetic Testing for Inherited Cardiac Conditions.

Along with Sarah Wordsworth, a health economist from The University of Oxford’s Health Economic Research Centre, a questionnaire will be designed to examine peoples’ preferences for service delivery. Using the findings from the interview-based study above, we will identify information on the attributes of genetic testing which are important to patients. For example, important attributes might include waiting times, the accuracy of test results and the potential impact on life and health insurance.

Once this study is completed, both sets of findings will be reported in internal reports and peer-reviewed publications, and presented in suitable form to relevant patient groups. The aim is to provide information that will be useful to the people who are confronted with difficult healthcare decisions at three levels:

1. The research will be useful to current and future participants in genetic testing, their families and relevant patient groups by providing information for support and decision-making.

2. It will also help clinicians and genetics counsellors who support participants in genetic testing to deliver an appropriate service.

3. Finally, the findings will assist policy makers in developing the optimal service for those at risk of an inherited cardiac condition.

For information about this project contact Dr Andrew Smart