Abstract
There have been over 40 cardiac diseases with a genetic cause identified to date. The management of most genetic cardiac diseases (GCDs) now necessitates multidisciplinary care, including the provision of genetic counselling. This study investigated the knowledge and management of GCDs by General Practitioners (GPs). Questionnaires were mailed out to 685 doctors working in general practice in Tasmania, Australia, with 144 responses (21 %) received. Results showed that the majority (77.8 %) of the responding doctors are managing at least one patient with GCD in their practice. However, GPs identified having limited confidence in the appropriate management of these conditions and indicated that they are very dependent on guidance from a cardiologist, including whether to refer a patient to genetic counselling. To our knowledge, this is the first Australian study that looks at the care of patients with GCD in the primary care sector. The knowledge gained will help us provide more appropriate care for patients who do not have immediate access to specialised services, particularly those outside metropolitan areas, and provides evidence for what resources can be offered to doctors working in general practice to help provide quality care for these patients.
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References
Ackerman MJ, Priori SG, Willems S et al (2011) HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). Heart Rhythm 8:1308–1339. doi:10.1016/j.hrthm.2011.05.020
Australian Bureau of Statistics (2015) 3218.0 Regional Population Growth, Australia, 2012-2013 - Tasmania. http://www.abs.gov.au/ausstats/abs@.nsf/Products/3218.0∼2012-13∼Main+Features∼Tasmania?OpenDocument. Accessed 6th April 2015
Australian Institute of Health and Welfare (2012) Australia’s Health 2012, Australia’s health series no. 13 Cat no AUS 156. AIHW, Canberra
Challen K, Harris H, Kristoffersson U et al (2010) General practitioner management of genetic aspects of a cardiac disease: a scenario-based study to anticipate providers' practices. J Community Genet 1:83–90
Cowan J, Morales A, Dagua J, Hershberger RE (2008) Genetic testing and genetic counseling in cardiovascular genetic medicine: overview and preliminary recommendations. Congest Heart Fail 14:97–105
Guttmacher AE, Porteous ME, McInerney JD (2007) Educating health-care professionals about genetics and genomics. Nat Rev Genet 8:151–157. doi:10.1038/nrg2007
Hamang A, Eide GE, Nordin K, Rokne B, Bjorvatn C, Oyen N (2010) Health status in patients at risk of inherited arrhythmias and sudden unexpected death compared to the general population. BMC Med Genet 11:27. doi:10.1186/1471-2350-11-27
Hamang A, Eide GE, Rokne B, Nordin K, Oyen N (2011) General anxiety, depression, and physical health in relation to symptoms of heart-focused anxiety- a cross sectional study among patients living with the risk of serious arrhythmias and sudden cardiac death. Health Qual Life Outcomes 9:100. doi:10.1186/1477-7525-9-100
Hershberger RE, Cowan J, Morales A, Siegfried JD (2009) Progress with genetic cardiomyopathies: screening, counseling, and testing in dilated, hypertrophic, and arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circ Heart Fail 2:253–261. doi:10.1161/circheartfailure.108.817346
Hoedemaekers YM, Caliskan K, Michels M et al (2010) The importance of genetic counseling, DNA diagnostics, and cardiologic family screening in left ventricular noncompaction cardiomyopathy. Circ Cardiovasc Genet 3:232–239. doi:10.1161/circgenetics.109.903898
Houwink EJ, van Luijk SJ, Henneman L, van der Vleuten C, Jan Dinant G, Cornel MC (2011) Genetic educational needs and the role of genetics in primary care: a focus group study with multiple perspectives. BMC Fam Pract 12:5. doi:10.1186/1471-2296-12-5
Primary Health Care Research and Information Service (2014) 2010-11 12 Monthly Report: Tasmania Health Workforce. http://www.phcris.org.au/dios/. Accessed 8th December 2014
Ingles J, Yeates L, Semsarian C (2011) The emerging role of the cardiac genetic counselor. Heart Rhythm 8:5
Ingles J, Yeates L, Hunt L, McGaughran J, Scuffham PA, Atherton J, Semsarian C (2013) Health status of cardiac genetic disease patients and their at-risk relatives. Int J Cardiol 165:448–453. doi:10.1016/j.ijcard.2011.08.083
Ingles J, Johnson R, Sarina T et al (2015) Social determinants of health in the setting of hypertrophic cardiomyopathy. Int J Cardiol 184:743–749. doi:10.1016/j.ijcard.2015.03.070
Liamputtong P, Serry T (2013) Making Sense of Data and Presentation. In: Liamputtong P (ed) Research Methods in Health: foundations for evidence-based practice. Oxford University Press, Australia
Maron BJ, Gardin JM, Flack JM, Gidding SS, Kurosaki TT, Bild DE (1995) Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA Study. Coronary Artery Risk Development in (Young) Adults. Circulation 92:785–789
McGorrian C, McShane C, McQuade C et al (2013) Family-based associations in measures of psychological distress and quality of life in a cardiac screening clinic for inheritable cardiac diseases: a cross-sectional study. BMC Med Genet 14:1. doi:10.1186/1471-2350-14-1
Milewicz DM, Seidman CE (2000) Genetics of cardiovascular disease. Circulation 102:Iv103–111
Nunn LM, Lambiase PD (2011) Genetics and cardiovascular disease–causes and prevention of unexpected sudden adult death: the role of the SADS clinic. Heart 97:1122–1127. doi:10.1136/hrt.2010.218511
Resta R, Biesecker BB, Bennett RL, Blum S, Hahn SE, Strecker MN, Williams JL (2006) A new definition of Genetic Counseling: National Society of Genetic Counselors' Task Force report. J Genet Couns 15:77–83. doi:10.1007/s10897-005-9014-3
Scheuner MT, Marshall N, Lanto A et al (2014) Delivery of clinical genetic consultative services in the Veterans Health Administration. Genet Med 16:609–619. doi:10.1038/gim.2013.202
Schwartz PJ, Stramba-Badiale M, Crotti L et al (2009) Prevalence of the congenital long-QT syndrome. Circulation 120:1761–1767. doi:10.1161/circulationaha.109.863209
Semsarian C, Ingles J, Maron MS, Maron BJ (2015) New Perspectives on the Prevalence of Hypertrophic Cardiomyopathy. J Am Coll Cardiol 65:1249–1254. doi:10.1016/j.jacc.2015.01.019
Sturm AC (2013) Genetic testing in the contemporary diagnosis of cardiomyopathy. Curr Heart Fail Rep 10:63–72. doi:10.1007/s11897-012-0124-6
van Langen IM, Birnie E, Leschot NJ, Bonsel GJ, Wilde AA (2003) Genetic knowledge and counselling skills of Dutch cardiologists: sufficient for the genomics era? Eur Heart J 24:560–566
van Langen IM, Birnie E, Schuurman E, Tan HL, Hofman N, Bonsel GJ, Wilde AA (2005) Preferences of cardiologists and clinical geneticists for the future organization of genetic care in hypertrophic cardiomyopathy: a survey. Clin Genet 68:360–368. doi:10.1111/j.1399-0004.2005.00502.x
Ward C (2000) Clinical significance of the bicuspid aortic valve. Heart 83:81–85
Zodgekar P, Ingles J, Yeates L, Macciocca I, McGaughran J, Semsarian C, Fatkin D (2011) Guidelines for Genetic Testing of Inherited Cardiac Disorders. The Cardiac Society of Australia and New Zealand, Australia
Acknowledgments
This project was funded by a grant from Clifford Craig Medical Research Trust (Grant Number 96). We would like to thank the GPs who participated in this project, and the Launceston Clinical School, University of Tasmania, for its support.
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Jessica A. Marathe, Jessica Woodroffe, Kathryn Ogden and Clarissa Hughes declare they have no conflict of interest.
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All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all participants included in the study.
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Marathe, J.A., Woodroffe, J., Ogden, K. et al. General Practitioners’ knowledge and use of genetic counselling in managing patients with genetic cardiac disease in non-specialised settings. J Community Genet 6, 375–382 (2015). https://doi.org/10.1007/s12687-015-0229-1
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DOI: https://doi.org/10.1007/s12687-015-0229-1