Open Access Highly Accessed Research article

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

Gareth J Hollands1, David Armstrong2, Angela Macfarlane1, Martin A Crook3 and Theresa M Marteau1*

Author Affiliations

1 Health Psychology Section, Department of Psychology (at Guy’s), King’s College London, 5th Floor Bermondsey Wing, Guy’s Campus, London, SE1 9RT, UK

2 Department of Primary Care and Public Health Sciences, King's College London, 5th Floor Capital House, 42 Weston Street, London, SE1 3QD, UK

3 Department of Clinical Biochemistry and Metabolic Medicine, University Hospital Lewisham, London, SE13 6LH, UK

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BMC Medical Genetics 2012, 13:87  doi:10.1186/1471-2350-13-87

Published: 21 September 2012



Continuing 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.


This 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.


The 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.


The 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.

Behaviour change; Genetics; Genetic testing; Health behaviour; Risk; Qualitative