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Genetic testing for heart disease

Health professionals should explore patients’ understanding of genetic test results in light of their family history and conventional risk assessment to encourage healthy behaviour, as participants can be unclear how to interpret genetic risk results, according to a new study.1

The study, conducted by academics at The University of Nottingham, examines how patients perceive the results of genetic testing, when offered the test after a conventional cardiovascular risk assessment.

A qualitative interview study in 12 practices in Nottinghamshire, from both urban and rural settings, was conducted. 29 adults, who consented to genetic testing after having had a conventional cardiovascular risk assessment, were interviewed.

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, the study found.

G200/0156Lead author Professor Nadeem Qureshi said: “The main reason for genetic testing for the risk of coronary heart disease (CHD) is a family history of this disease, and people undergoing testing are often motivated by a desire to convey results to their children. Predictive genetic tests are currently available over the counter, but both the public and clinicians do not really understand the test results.”

“With this type of test being offered commercially direct to the public, general practitioners are increasingly exposed to genetic test results. They need to have an understanding of the complexity and relevance of these test results. This will be particularly challenging when the genetic test result is not consistent with CHD risk identified through conventional cardiovascular risk assessment and the family history. The results need to be presented in a clearer way, to enable the patients to take account of all of the assessments and test results. This is important to ensure that the patient maintains a healthy lifestyle,” Professor Qureshi added.


1. Middlemass JB, Yazdani MF, Kai J, Standen PJ, Qureshi N. Introducing genetic testing for cardiovascular disease in primary care: a qualitative study. Br J Gen Pract 2014;64:e282–9.

Published on: May 28, 2014

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