How do index patients participating in genetic screening programmes for familial hypercholesterolemia (FH) interpret their DNA results? A UK-based qualitative interview study

Patient Education and Counseling

Volumn 90, Issue 3, 2013, Pages 372-377

  Jenkins, Nicholas ^a   Lawton, Julia ^a   Douglas, Margaret ^b   Walker, Simon ^a   Finnie, Robert ^c   Porteous, Mary ^d   Hallowell, Nina ^e  

^a UNIVERSITY OF EDINBURGH   (United Kingdom)

^b NHS LOTHIAN   (United Kingdom)

^c ST JOHN'S HOSPITAL   (United Kingdom)

^d WESTERN GENERAL HOSPITAL   (United Kingdom)

^e NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

Familial hypercholesterolemia; Genetic testing; Inconclusive DNA results; Patient perceptions

Indexed keywords

CHOLESTEROL; DNA; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR;

ADULT; ARTICLE; CLINICAL PRACTICE; CONTROLLED STUDY; DISEASE ASSOCIATION; FAMILIAL HYPERCHOLESTEROLEMIA; FAMILY HISTORY; FEMALE; GENETIC SCREENING; HEALTH PROGRAM; HUMAN; LIFESTYLE MODIFICATION; MALE; MEDICAL DECISION MAKING; MEDICAL INFORMATION; MOLECULAR DIAGNOSIS; PATIENT ASSESSMENT; PATIENT PARTICIPATION; PATIENT SELECTION; PHYSICIAN ATTITUDE; PRIORITY JOURNAL; PROFESSIONAL COMPETENCE; PROFESSIONAL KNOWLEDGE; QUALITATIVE ANALYSIS; UNITED KINGDOM;

ADULT; AGED; DNA; FEMALE; GENETIC TESTING; HEALTH KNOWLEDGE, ATTITUDES, PRACTICE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; INTERVIEWS AS TOPIC; MALE; MIDDLE AGED; PERCEPTION; QUALITATIVE RESEARCH; SCOTLAND;

EID: 84873481641     PISSN: 07383991     EISSN: 18735134     Source Type: Journal    
DOI: 10.1016/j.pec.2011.09.002     Document Type: Article

References (35)

1. DeMott K., Nherera L., Shaw E.J., Minhas R., Humphries S.E., Kathoria M., et al. Clinical guidelines evidence review for familial hypercholesterolaemia: the identification and management of adults and children with familial hypercholesterolaemia 2008, National Collaborating Centre for Primary Care and Royal College of General Practitioners, London.
2. Slack J. Risks of ischaemic heart-disease in familial hyperlipoproteinaemic states. Lancet 1969, 294:1380-1382.
3. Neil A., Cooper J., Betteridge J., Capps N., McDowell I., Durrington P., et al. Reductions in all-cause, cancer, and coronary mortality in statin-treated patients with heterozygous familial hypercholesterolaemia: a prospective registry study. Eur Heart J 2008, 29:2625-2633.
4. Versmissen J., Oosterveer D.M., Yazdanpanah M., Defesche J.C., Basart D.C., Liem A.H., et al. Efficacy of statins in familial hypercholesterolaemia: a long term cohort study. Brit Med J 2008, 337:a2423.
5. Neil H.A., Hammond T., Huxley R., Matthews D.R., Humphries S.E. Extent of underdiagnosis of familial hypercholesterolaemia in routine practice: prospective registry study. Brit Med J 2000, 321:148.
6. Marks D., Thorogood M., Farrer J.M., Humphries S.E. Census of clinics providing specialist lipid services in the United Kingdom. J Public Health (Oxf) 2004, 26:353-354.
7. Department of Health. Our inheritance, our future: realising the potential of genetics in the NHS, CM 5791-II. London: Stationary Office; 2003.
8. Umans-Eckenhausen M.A., Defesche J.C., Sijbrands E.J., Scheerder R.L., Kastelein J.J. Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands. Lancet 2001, 357:165-168.
9. Leren T.P., Manshaus T., Skovholt U., Skodje T., Nossen I.E., Teie C., et al. Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program. Semin Vasc Med 2004, 4:75-85.
10. Pocovi M., Civeira F., Alonso R., Mata P. Familial hypercholesterolemia in Spain: case-finding program, clinical and genetic aspects. Semin Vasc Med 2004, 4:67-74.
11. Finnie R.M. Cascade screening for familial hypercholesterolaemia in Scotland. Br J Diabetes Vasc Dis 2010, 10:123-125.
12. Datta B.N., McDowell I.F., Rees A. Integrating provision of specialist lipid services with cascade testing for familial hypercholesterolaemia. Curr Opin Lipidol 2010, 21:366-371.
13. Pedersen KMV, Humphries SE, Roughton M, Besford JS. National clinical audit of the management of familial hypercholesterolaemia 2010: Full Report. Clinical Standards Department, Royal College of Physicians.
14. Leren T.P. Cascade genetic screening for familial hypercholesterolemia. Clin Genet 2004, 66:483-487.
15. Marks D., Wonderling D., Thorogood M., Lambert H., Humphries S.E., Neil H.A. Cost effectiveness analysis of different approaches of screening for familial hypercholesterolaemia. Brit Med J 2002, 324:1303.
16. Huijgen R., Versmissen J., Oosterveer D.M., Kindt I., Sijbrands E.J.G., Kastelein J.J.P. Efficacy of 15 years of genetic cascade screening for familial hypercholesterolemia in the Netherlands in prevention of coronary artery disease. European Atherosclerosis Society 2010, [Abstract 1423].
17. Senior V., Marteau T.M., Peters T.J. Will genetic testing for predisposition for disease result in fatalism? A qualitative study of parents responses to neonatal screening for familial hypercholesterolaemia. Soc Sci Med 1999, 48:1857-1860.
18. van Maarle M.C., Stouthard M.E., Marang-van de Mheen P.J., Klazinga N.S., Bonsel G.J. How disturbing is it to be approached for a genetic cascade screening programme for familial hypercholesterolaemia? Psychological impact and screenees' views. Community Genet 2001, 4:244-252.
19. van Maarle M.C., Stouthard M.E., Bonsel G.J. Risk perception of participants in a family-based genetic screening program on familial hypercholesterolemia. Am J Med Genet A 2003, 116A:136-143.
20. Marteau T., Senior V., Humphries S.E., Bobrow M., Cranston T., Crook M.A., et al. Psychological impact of genetic testing for familial hypercholesterolemia within a previously aware population: a randomized controlled trial. Am J Med Genet A 2004, 128A:285-293.
21. Leren T.P., Tonstad S., Gundersen K.E., Bakken K.S., Rødningen O.K., Sundvold H., et al. Molecular genetics of familial hypercholesterolaemia in Norway. J Intern Med 1997, 241:185-194.
22. Heath K.E., Gudnason V., Humphries S.E., Seed M. The type of mutation in the low density lipoprotein receptor gene influences the cholesterol-lowering response of the HMG-CoA reductase inhibitor simvastatin in patients with heterozygous familial hypercholesterolaemia. Atherosclerosis 1999, 143:41-54.
23. van den Nieuwenhoff H.W., Mesters I., Nellissen J.J., Stalenhoef A.F., de Vries N.K. The importance of written information packages in support of case-finding within families at risk for inherited high cholesterol. J Genet Couns 2006, 15:29-40.
24. van den Nieuwenhoff H.W., Mesters I., Gielen C., de Vries N.K. Family communication regarding inherited high cholesterol: why and how do patients disclose genetic risk?. Soc Sci Med 2007, 65:1025-1037.
25. Strauss A.L., Corbin J.M. Basics of qualitative research: grounded theory procedures and techniques 1990, Sage, Newbury Park, CA.
26. Hallowell N., Jenkins N., Douglas M., Walker S., Finnie R., Porteous M., et al. Patients' experiences and views of cascade screening for familial hypercholesterolemia (FH): a qualitative study. J Community Genet 2011, 10.1007/s12687-011-0064-y.
27. Saukko P.M., Richards S.H., Shepherd M.H., Campbell J.L. Are genetic tests exceptional? Lessons from a qualitative study on thrombophilia. Soc Sci Med 2006, 19(63):7-59.
28. Senior V., Smith J.A., Michie S., Marteau T.M. Making sense of risk: an interpretative phenomenological analysis of vulnerability to heart disease. J Health Psychol 2002, 7:157-168.
29. Weiner K., Durrington P.N. Patients' understandings and experiences of familial hypercholesterolemia. Community Genet 2008, 11:273-282.
30. Will C.M., Armstrong D., Marteau T.M. Genetic unexceptionalism: clinician accounts of genetic testing for familial hypercholesterolaemia. Soc Sci Med 2010, 71:910-917.
31. Bloor M. The sociology of HIV transmission 1995, Sage, London.
32. Schutz A. Reflections on the problem of relevance 1970, Yale University Press, New Haven.
33. Hallowell N., Foster C., Ardern-Jones A., Eeles R., Murday V., Watson M. Genetic testing for women previously diagnosed with breast/ovarian cancer: examining the impact of BRCA1 and BRCA2 mutation searching. Genet Test 2002, 6:79-87.
34. Bell C. Scotland so far. Presented at the Scottish Lipid Forum 2010.
35. Weiner K. Patient and professional constructions of familial hypercholesterolaemia and heart disease: testing the limits of the geneticisation thesis. PhD thesis. University of Nottingham; 2006.