'It had to be done': Genetic testing decisions for arrhythmogenic right ventricular cardiomyopathy

Clinical Genetics

Volumn 88, Issue 4, 2015, Pages 344-351

  Etchegary, Holly ^a   Pullman, D ^b   Simmonds, C ^b   Young, T L ^b   Hodgkinson, K ^b  

^a Eastern Health Canada   (Canada)

^b MEMORIAL UNIVERSITY OF NEWFOUNDLAND   (Canada)

Author keywords

ARVC; Genetic testing; Psychosocial; SCD; Sudden cardiac death; TMEM43

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CARDIOVASCULAR RISK; CLINICAL ARTICLE; CLINICAL DECISION MAKING; FEMALE; FOLLOW UP; GENE MUTATION; GENETIC RISK; GENETIC SCREENING; GENETIC SERVICE; HEART RIGHT VENTRICLE DYSPLASIA; HUMAN; MALE; MIDDLE AGED; PERSONALITY; PRIORITY JOURNAL; QUALITATIVE RESEARCH; SEMI STRUCTURED INTERVIEW; YOUNG ADULT; ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA; DEATH, SUDDEN, CARDIAC; DECISION MAKING; GENETICS; PSYCHOLOGY; RISK FACTOR;

MEMBRANE PROTEIN; TMEM43 PROTEIN, HUMAN;

ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA; DEATH, SUDDEN, CARDIAC; DECISION MAKING; FEMALE; GENETIC TESTING; HUMANS; MALE; MEMBRANE PROTEINS; QUALITATIVE RESEARCH; RISK FACTORS;

EID: 84941632960     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12513     Document Type: Article

References (34)

1. Lodder E, Bezzina C. Arrhythmogenic right ventricular cardiomyopathy: growing evidence for complex inheritance. Circ Cardiovasc Genet 2013: 6: 525-527.
2. Murray B. Arrhythmogenic right ventricular dysplasia/cardiomyopathy: a review of molecular and clinical literature. J Genet Couns 2012: 21: 494-504.
3. Romero J, Mejia-Lopez E, Manrique C, Lucariello R. Arrhythmogenic right ventricular cardiomyopathy: a systematic literature review. Clin Med Insights Cardiol 2013: 7: 97-114.
4. Marcus F, Edson S, Towbin J. Genetics of arrhythmogenic right ventricular cardiomyopathy. A practical guide for physicians. J Am Coll Cardiol 2013: 61: 1945-1948.
5. Day S. Anxiety in patients with arrhythmogenic right ventricular cardiomyopathy and implantable cardioverter difibrillators. Circ Cardiovasc Genet 2012: 5: 2-4.
6. Sen-Chowdhry S, Morgan R, Chambers J, McKenna W. Arrhythmogenic cardiomyopathy: etiology, diagnosis, and treatment. Annu Rev Med 2010: 61: 233-253.
7. Hodgkinson K, Parfrey P, Bassett A et al. The impact of implantable cardioverter defibrillator therapy on survival in autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVD5). J Am Coll Cardiol 2005: 45: 400-408.
8. Merner N, Hodgkinson K, Haywood A et al. Arrhythmogenic right ventricular cardiomyopathy type 5 (ARVD5) is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene. Am J Hum Genet 2008: 82: 809-821.
9. Ackerman M, Priori S, Willems S et al. HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies. Heart Rhythm 2011: 8: 1308-1339.
10. Ashley E, Hershberger R, Caleshu C et al. Genetics and cardiovascular disease: a policy statement from the American Heart Association. Circulation 2012: 126: 142-157.
11. Marcus F, McKenna W, Sherrill W et al. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the Task Force Criteria. Eur Heart J 2010: 31: 806-814.
12. James C, Tichnell C, Murray B, Daly A, Sears S, Calkins H. General and disease specific psychosocial adjustment in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy with implantable cardioverter defibrillators: a large cohort study. Circ Cardiovasc Genet 2012: 5: 18-24.
13. Manuel A, Brunger F. Making the decision to participate in predictive genetic testing for arrhythmogenic right ventricular cardiomyopathy. J Genet Couns 2014: 10.1007/s10897-014-9733-4
14. Ormondroyd E, Oates S, Parker M, Blair E, Watkins H. Pre-symptomatic genetic testing for inherited cardiac conditions: a qualitative exploration of psychosocial and ethical implications. Eur J Hum Genet 2014: 22: 88-93.
15. Smart A. Impediments to DNA testing and cascade screening for hypertrophic cardiomyopathy and long QT syndrome: a qualitative study of patient experiences. J Genet Couns 2010: 19: 630-639.
16. van der Werf C, Onderwater A, van Langen I, Smets E. Experiences, considerations and emotions relating to cardiogenetic evaluation in relatives of young sudden cardiac death victims. Eur J Hum Genet 2014: 22: 192-196.
17. Geelen E, Horstman K, Marcelis C, Doevendans P, Van Hoyweghen I. Unravelling fears of genetic discrimination: an exploratory study of Dutch HCM families in an era of genetic non-discrimination acts. Eur J Hum Genet 2012: 20: 1018-1023.
18. Hodgkinson K, Dicks E, Connors S, Young T, Parfrey P, Pullman D. Translation of research discoveries to clinical care in arrhythmogenic right ventricular cardiomyopathy in Newfoundland and Labrador: lessons for health policy in genetic disease. Genet Med 2009: 11: 85-865.
19. Sandelowski M. Whatever happened to qualitative description? Res Nurs Health 2000: 23: 334-340.
20. Pope C, Ziebland S, Mays N. Analysing qualitative data. BMJ 2000: 320 (7227): 114-116.
21. Glaser B, Strauss A. The discovery of grounded theory. Chicago, IL: Aldine, 1967.
22. Charron P, Arad M, Arbustini E et al. Genetic counseling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J 2010: 31: 2715-2726.
23. Sturm A. Genetic testing in the contemporary diagnosis of cardiomyopathy. Curr Heart Fail Rep 2013: 10: 63-72.
24. Miller E, Wang Y, Ware S. Uptake of cardiac screening and genetic testing among hypertropic and dilated cardiomyopathy families. J Genet Couns 2013: 22: 258-267.
25. Etchegary H. Psychological aspects of predictive genetic-test decisions: what do we know so far? Anal Soc Issues Public Policy 2004: 4: 13-31.
26. d'Agincourt-Canning L. Genetic testing for hereditary breast and ovarian cancer: responsibility and choice. Qual Health Res 2006: 16: 97-118.
27. Downing C. Negotiating responsibility: case studies of reproductive decision-making and prenatal genetic testing in families facing Huntington disease. J Genet Couns 2005: 14: 219-234.
28. Etchegary H. Genetic testing for Huntington disease: how is the decision taken? Genet Test 2006: 10: 60-67.
29. Foster C, Watson M, Moyhnihan C, Ardern-Jones A, Eeles R. Genetic testing for breast and ovarian cancer predisposition: cancer burden and responsibility. J Health Psychol 2002: 7: 469-484.
30. Hallowell N, Foster C, Eeles R, Ardern-Jones A, Murday V, Watson M. Balancing autonomy and responsibility: the ethics of generating and disclosing genetic information. J Med Ethics 2003: 29: 74-83.
31. Hallowell N, Ardern-Jones A, Eeles R et al. Men's decision-making about predictive BRCA1/2 testing: the role of family. J Genet Couns 2005: 3: 207-217.
32. Kenea R. The Human Genome Project: creator of the potentially sick, potentially vulnerable and potentially stigmatized?. In: Robinson I, ed. Life and death under high technology medicine. London: Manchester University Press, 2004: 49-64.
33. Sherwin S. A relational approach to autonomy in health care. In: Boetzkes E, Waluchow W, eds. Readings in health care ethics, 2nd edn. Peterborough: Broadview Press, 2012: 14-32.
34. Pullman D, Hodgkinson K. Genetic knowledge and moral responsibility: ambiguity at the interface of genetic research and clinical practice. Clin Genet 2006: 69: 199-203.