This study aimed to explore the responses of individuals who have undergone genetic testing for familial hypercholesterolaemia (FH) where no genetic mutation has been identified. Semi-structured interviews were conducted with 11 patients and interpretative phenomenological analysis (IPA) was employed. This article describes three inter-related themes: ‘feeling in limbo’, ‘exploring causes of raised cholesterol’ and ‘contradictions in talk about diet’. Although participants generally adhered to medication and engaged in healthy lifestyles, the findings have clinical implications for how genetic test results are communicated.
AgardABolmsjoIAHermerenGWahlstomJ (2005) Familial hypercholesterolemia: Ethical, practical and psychological problems from the perspective of patients. Patient Education and Counseling57(2): 162–167.
2.
BatesBRTempletonAAchterPJHarrisTMConditCM (2003) What does ‘a gene for heart disease’ mean? A focus group study of public understandings of genetic risk factors. American Journal of Medical Genetics119A(2): 156–161.
3.
BuckmasterAMGallagherP (2010) Experiences of and perspectives on genetic testing for breast/ovarian cancer in and outside of the customary clinical setting. Psychology & Health25(9): 1041–1059.
4.
ChapmanESmithJA (2002) Interpretative phenomenological analysis and the new genetics. Journal of Health Psychology7(2): 125–130.
5.
ClaassenLHennemanLKindtIMarteauTMTimmermansDRM (2010) Perceived risk and representations of cardiovascular disease and preventive behaviour in people diagnosed with Familial Hypercholesterolemia: A cross-sectional questionnaire study. Journal of Health Psychology15(1): 33–43.
6.
CollinsREWrightAJMarteauTM (2011) Impact of communicating personalized genetic risk information on perceived control over the risk: A systematic review. Genetics in Medicine13(4): 273–277.
7.
EtchegaryHMillerFdeLaatSWilsonBCarrollJCappelliM (2009) Decision-making about inherited cancer risk: Exploring dimensions of genetic responsibility. Journal of Genetic Counseling18(3): 252–264.
8.
FrichJCOseLMalterudKFugelliP (2006) Perceived vulnerability to heart disease in patients with familial hypercholesterolemia: A qualitative study. Annals of Family Medicine4(3): 198–204.
9.
HadfieldSGHoraraSStarrBJ. (2008) Are patients with familial hypercholesterolaemia well managed in lipid clinics? An audit of eleven clinics from the Department of Health Familial Hypercholesterolaemia Cascade Testing Project. Annals of Clinical Biochemistry45(2): 199–205.
10.
HallowellNFosterCEelesRArden-JonesAWatsonM (2004) Accommodating risk: Responses to BRCA1/2 genetic testing of women who have had cancer. Social Science & Medicine59(3): 553–565.
11.
HumphriesSEWhittallRAHubbartCS. (2006) Genetic causes of familial hypercholesterolaemia in patients in the UK: Relation to plasma lipid levels and coronary heart disease risk. Journal of Medical Genetics43(12): 943–949.
12.
LeventhalHBrissetteILeventhalE (2003) The common-sense model of self-regulation of health and illness. In: CameronLDLeventhalH (eds) The Self-Regulation of Health and Illness Behaviour. London and New York: Routledge, pp. 42–65.
13.
MarteauTMLermanC (2001) Genetic risk and behavioural change. British Medical Journal322: 1056–1059.
14.
MarteauTMSeniorVHumphriesSE. (2004) Psychological impact of genetic testing for familial hypercholesterolemia within a previously aware population: A randomized controlled trial. American Journal of Medical Genetics128A(3): 285–293.
15.
MeiserBButowPBarrattA. (2000) Attitudes to genetic testing for breast cancer susceptibility in women at increased risk of developing hereditary breast cancer. Journal of Medical Genetics37(6): 472–476.
16.
MichieSSmithJASeniorVMarteauTM (2003) Understanding why negative genetic test results sometimes fail to reassure. American Journal of Medical Genetics119A(3): 340–347.
17.
NeilHAWHammondTHuxleyRMatthewsDRHumphriesSE (2000) Extent of underdiagnosis of familial hypercholesterolaemia in routine practice: Prospective registry study. British Medical Journal321: 148.
18.
PijlmanAHHuijgenRVerhagenSN. (2010) Evaluation of cholesterol lowering treatment of patients with Familial Hypercholesterolemia: A large cross-sectional study in The Netherlands. Atherosclerosis209(1): 189–194.
19.
SeniorVMarteauTM (2007) Causal attributions for raised cholesterol and perceptions of effective risk reduction: Self-regulation strategies for an increased risk of coronary heart disease. Psychology and Health22(6): 699–717.
20.
SeniorVMarteauTMPeterTJ (1999) Will genetic testing for predisposition for disease result in fatalism? A qualitative study of parents responses to neonatal screening for familial hypercholesterolaemia. Social Science & Medicine48(12): 1857–1860.
21.
SeniorVMarteauTMWeinmanJ (2005) Perceptions of control over heart disease in people with an inherited disposition to raised cholesterol. Psychology, Health & Medicine10(1): 16–30.
22.
SeniorVSmithJAMichieSMarteauTM (2002) Making sense of risk: An interpretative phenomenological analysis of vulnerability to heart disease. Journal of Health Psychology7(2): 157–168.
23.
ShilohS (2006) Illness representations, self- regulation, and genetic counseling: A theoretical review. Journal of Genetic Counseling15(5): 325–337.
24.
Simon Broome Steering Committee (1991) Risk of fatal coronary heart disease in familial hypercholesterolaemia. British Medical Journal303: 893–896.
25.
Simon Broome Steering Committee (1999) Mortality in treated heterozygous familial hypercholesterolaemia: Implications for clinical management. Atherosclerosis142(1): 105–112.
26.
SmithJA (2011) Evaluating interpretative phenomenological analysis. Health Psychology Review5(1): 9–27.
27.
SmithJAOsbornM (2003) Interpretative phenomenological analysis. In: SmithJA (ed.) Qualitative Psychology: A Practical Guide to Research Methods. London: SAGE, pp. 51–80.
SmithJAMichieSStephensonMQuarrellO (2002) Risk perception & decision-making processes in candidates for the genetic test for Huntington’s Disease: An interpretative phenomenological analysis. Journal of Health Psychology7(2): 131–144.
30.
TaylorAWangDPatelK. (2010) Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project. Clinical Genetics77(6): 572–580.
31.
Umans-EckenhausenMAWDefescheJCSijbrandsEJ. (2001) Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands. Lancet357: 165–168.
32.
Van MaarleMCStouthardMEBonselGJ (2003) Quality of life in a family based genetic cascade screening programme for familial hypercholesterolaemia: A longitudinal study among participants. Journal of Medical Genetics40(1): e3.
33.
Van MaarleMCStouthardMEAMarang-van de MheenPJKlazingaNSBonselGJ (2002) Follow-up after a family based genetic screening programme on familial hypercholesterolaemia: Screening alone is not enough. British Medical Journal324: 1367–1368.
34.
WalterFMEmeryJ (2006) Perceptions of family history across diseases: A qualitative study in primary care. Family Practice23(4): 472–480.
35.
WeinerK (2009) The tenacity of the coronary candidate: How people with familial hypercholesterolaemia construct raised cholesterol and coronary heart disease. health: 13(4): 407–427.
36.
WeinerKDurringtonP (2008) Patients’ understandings and experiences of familial hypercholesterolemia. Community Genetics11(5): 273–282.
