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

BMC Medical Genetics

Research Article

Martin A Crook¹  David Armstrong²  Theresa M Marteau³  Angela Macfarlane³  Gareth J Hollands³ 

[1] Department of Clinical Biochemistry and Metabolic Medicine, University Hospital Lewisham, SE13 6LH, London, UK;Department of Primary Care and Public Health Sciences, King's College London, 5th Floor Capital House, 42 Weston Street, SE1 3QD, London, UK;Health Psychology Section, Department of Psychology (at Guy’s), King’s College London, 5th Floor Bermondsey Wing, Guy’s Campus, SE1 9RT, London, UK;

关键词: Behaviour change;    Genetics;    Genetic testing;    Health behaviour;    Risk;    Qualitative;   

DOI  :  10.1186/1471-2350-13-87

 received in 2012-01-19, accepted in 2012-07-11,  发布年份 2012

来源: Springer

【 摘 要 】

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.

【 授权许可】

Unknown   
© Hollands et al.; licensee BioMed Central Ltd. 2012. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.