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

BMC Medical Genetics

Theresa M Marteau³  Martin A Crook²  Angela Macfarlane³  David Armstrong¹  Gareth J Hollands³ 

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

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

Others  :  1177795
DOI  :  10.1186/1471-2350-13-87

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

【 摘 要 】

Background

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.

Methods

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.

Results

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.

Conclusions

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.

【 授权许可】

   
2012 Hollands et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

【 参考文献 】

• [1]23andmeCompany website. Available at: https://www.23andme.com webcite. Accessed: 14th July 2011
• [2]NavigenicsCompany website. Available at: http://www.navigenics.com webcite (Accessed: 14th July 2011)
• [3]GeneWatch UK: Revision of directive 98/79/EC of the European Parliament and of the Council of 27 October 1998 on in vitro diagnostic medical devices - public consultation. GeneWatch UK response. Downloaded from: ≤ http://www.genewatch.org/pub-396427 webcite
• [4]Collins F: Has the revolution arrived? Nature 2010, 464(7289):674-675.
• [5]Murray T: Genetic exceptionalism and 'future diaries': is genetic information different from other medical information. In Genetic Secrets: Protecting privacy and confidentiality in the genetic era. Edited by Rothstein . Yale University Press, New Haven; 1997.
• [6]Broadstock M, Michie S, Marteau T: Psychological consequences of predictive genetic testing: a systematic review. Eur J Hum Genet 2000, 8(10):731-738.
• [7]Hedgecoe A: The politics of personalised medicine. Cambridge University Press, Cambridge; 2004.
• [8]Miller FA, Ahern C, Ogilvie J, Giacomini M, Schwartz L: Ruling in and ruling out: Implications of molecular genetic diagnoses for disease classification. Soc Sci Med 2005, 61(12):2536-2545.
• [9]Novas C, Rose N: Genetic risk and the birth of the somatic individual. Econ Soc 2000, 29(4):485-513.
• [10]Phelan JC, Yang LH, Cruz-Rojas R: Effects of attributing serious mental illnesses to genetic causes on orientations to treatment. Psychiatr Serv 2006, 57(3):382-387.
• [11]Wright AJ, Weinman J, Marteau TM: The impact of learning of a genetic predisposition to nicotine dependence: an analogue study. Tob Control 2003, 12(2):227-230.
• [12]Rees A: Familial hypercholesterolaemia: underdiagnosed and undertreated. Eur Heart J 2008, 29(21):2583-2584.
• [13]National Institute for Clinical Excellence (NICE): Familial hypercholesterolaemia. NICE guideline 71. NICE, London; 2008.
• [14]Fahed A, Nemer G: Familial Hypercholesterolemia: The Lipids or the Genes? Nutr Metab 2011, 8(1):23. BioMed Central Full Text
• [15]Senior V, Smith JA, Michie S, Marteau TM: Making sense of risk: An interpretative phenomenological analysis of vulnerability to heart disease. J Health Psychol 2002, 7(2):157-168.
• [16]Weiner K: The tenacity of the coronary candidate: how people with familial hypercholesterolaemia construct raised cholesterol and coronary heart disease. Health 2009, 13(4):407-427.
• [17]Weiner K, Durrington PN: Patients' understandings and experiences of familial hypercholesterolemia. Community Genet 2008, 11(5):273-282.
• [18]NVivo qualitative data analysis software (Version 8). QSR International Pty Ltd; 2008.
• [19]Will CM, Armstrong D, Marteau TM: Genetic unexceptionalism: Clinician accounts of genetic testing for familial hypercholesterolaemia. Soc Sci Med 2010, 71(5):910-917.
• [20]Cameron LD, Leventhal H (Eds): The Self-Regulation of Health and Illness Behaviour. Routledge, London; 2003.
• [21]Marteau TM, French DP, Griffin SJ, Prevost AT, Sutton S, Watkinson C, Attwood S, Hollands GJ: Effects of communicating DNA-based disease risk estimates on risk-reducing behaviours. Cochrane Database Syst Rev 2010, (10):CD007275.
• [22]Collins RE, Lopez LM, Marteau TM: Emotional impact of screening: a systematic review and meta-analysis. BMC Publ Health 2011, 11:603. BioMed Central Full Text
• [23]Collins R, Wright A, Marteau T: Impact of communicating personalized genetic risk information on perceived control over the risk: a systematic review. Genet Med 2011, 13:273-277.
• [24]Johnson JN: Should we screen for aortic aneurysm? No. BMJ 2008, 336(7649):863.
• [25]Kane RA, Kane RL: Effect of Genetic Testing for Risk of Alzheimer's Disease. N Engl J Med 2009, 361(3):298-299.
• [26]Gramling R, Nash J, Siren K, Culpepper L: Predictive genetics in primary care: Expectations for the motivational impact of genetic testing affects the importance family physicians place on screening for familial cancer risk. Genet Med 2003, 5(3):172-175.
• [27]Holtzman NA, Marteau TM: Will genetics revolutionize medicine? N Engl J Med 2000, 343(2):141-144.
• [28]Garcia-Rios A, Perez-Martinez P, Fuentes F, Mata P, Lopez-Miranda J, Alonso R, Rodriguez F, Garcia-Olid A, Ruano J, Ordovas JM, et al.: Genetic variations at ABCG5/G8 genes modulate plasma lipids concentrations in patients with familial hypercholesterolemia. Atherosclerosis 2010, 210(2):486-492.
• [29]Marks D, Thorogood M, Neil HAW, Humphries SE: A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia. Atherosclerosis 2003, 168(1):1-14.