In a world where genetic tests for coronary heart disease (CHD) are becoming increasingly commercially available, how do patients make sense of the results particularly when considered alongside the results from routine cardiovascular risk assessments undertaken by their general practitioner? This was the subject of a qualitative study with Dr Jo Middlemass, research fellow at CaHRU, as lead author: ‘Introducing genetic testing for cardiovascular disease in primary care: a qualitative study’. The authors interviewed 29 patients from 12 practices in Nottingham, who had received a routine cardiovascular risk assessment, followed by genetic testing to assess their CHD risk, to assess their understanding and response to both tests.

The results showed that genetic testing procedures were acceptable for patients. However, there was limited recall of the results for either the genetic test or the conventional cardiovascular disease (CVD) assessment undertaken in the practice. There was also some confusion on how to interpret the results, for example was being ‘above average risk’ better than being ‘average’? In addition there were sometimes contradictory findings in terms of being ‘above average genetic risk’ but ‘average’ conventional CVD risk and vice versa. Patients dealt with these conflicting findings in different ways. Some thought that healthy behaviour had mitigated their increased genetic risk while others were falsely reassured when their genetic risk was ‘average’ but their conventional risk was ‘above average’.

Patients often said that their main motivation to have genetic test for CHD was because they had a perceived family history of CHD and wanted to be able to share the genetic predisposition results with their adult children. However, despite this, very few did actually discuss the results with their offspring. The findings indicate that health professionals should discuss patient’s perceptions about the results of CHD risk assessments (both conventional and genetic) in order to facilitate greater awareness and understanding and to maximise any potential for behaviour change.

For the full article see Br J Gen Pract 2014; DOI: 10.3399/bjgp14X679714. Authors: Jo B Middlemass, Momina F Yazdani, Joe Kai, Penelope J Standen and Nadeem Qureshi.

By Jo Middlemass