Introducing Genetic Testing for Cardiovascular Disease in Primary Care: a Qualitative Study

Background: While primary care systematically offers conventional cardiovascular risk assessment, genetic tests for coronary heart disease (CHD) are increasingly commercially available to patients. It is unclear how individuals may respond to these new sources of risk information.

Aim: To explore how patients who have had a recent conventional cardiovascular risk assessment, perceive additional information from genetic testing for CHD.

Design And Setting: Qualitative interview study in 12 practices in Nottinghamshire from both urban and rural settings.

Method: Interviews were conducted with 29 adults, who consented to genetic testing after having had a conventional cardiovascular risk assessment.

Results: Individuals' principal motivation for genetic testing was their family history of CHD and a desire to convey the results to their children. After testing, however, there was limited recall of genetic test results and scepticism about the value of informing their children. Participants dealt with conflicting findings from the genetic test, family history, and conventional assessment by either focusing on genetic risk or environmental lifestyle factors. In some participants, genetic test results appeared to reinforce healthy behaviour but others were falsely reassured, despite having an 'above-average' conventional cardiovascular risk score.

Conclusion: Although genetic testing was acceptable, participants were unclear how to interpret genetic risk results. To facilitate healthy behaviour, health professionals should explore patients' understanding of genetic test results in light of their family history and conventional risk assessment.