Patient accounts of diagnostic testing for familial hypercholesterolaemia: comparing responses to genetic and non-genetic testing methods

Gareth J Hollands,Martin A Crook,Angela Macfarlane,Theresa M Marteau,David Armstrong

doi:10.1186/1471-2350-13-87

Gareth J Hollands, Martin A Crook + Show 3 more

Open Access

https://doi.org/10.1186/1471-2350-13-87

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Abstract

BackgroundContinuing developments in genetic testing technology together with research revealing gene-disease associations have brought closer the potential for genetic screening of populations. A major concern, as with any screening programme, is the response of the patient to the findings of screening, whether the outcome is positive or negative. Such concern is heightened for genetic testing, which it is feared may elicit stronger reactions than non-genetic testing.MethodsThis paper draws on thematic analysis of 113 semi-structured interviews with 39 patients being tested for familial hypercholesterolaemia (FH), an inherited predisposition to early-onset heart disease. It examines the impact of disease risk assessments based on both genetic and non-genetic information, or solely non-genetic information.ResultsThe impact of diagnostic testing did not seem to vary according to whether or not genetic information was used. More generally, being given a positive or negative diagnosis of FH had minimal discernible impact on people's lives as they maintained the continuity of their beliefs and behaviour.ConclusionsThe results suggest that concerns about the use of genetic testing in this context are unfounded, a conclusion that echoes findings from studies in this and other health contexts.

Highlights

Continuing developments in genetic testing technology together with research revealing gene-disease associations have brought closer the potential for genetic screening of populations
As more recently genetic testing has been introduced in some centres, it is possible to study the impact of the method of testing on patients’ response to such a diagnosis
While a qualitative approach was adopted for data collection and analysis, sampling was based on a factorial design which recruited groups of patients based on their experiences of genetic or non-genetic testing and negative or positive test results

Summary

Introduction

Continuing developments in genetic testing technology together with research revealing gene-disease associations have brought closer the potential for genetic screening of populations. Some commentators have suggested that in healthcare settings genetic risk factors are often perceived as carrying more weight for practitioners and patients than equivalent environmental factors [5]. Such a position is in accordance with a historic biomedical discourse in which patients with a genetic mutation develop a given higher perceived effectiveness of biologically-based responses, such as taking medication, versus behavioural responses, such as altering levels of physical activity or diet [10,11]. Most of the evidence for the impact of genetic testing has involved studies of those with ‘positive’ results; there has been some, though less, research on those receiving a negative result. As more recently genetic testing has been introduced in some centres, it is possible to study the impact of the method of testing on patients’ response to such a diagnosis

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