| Autor: |
Biernacka EK; Department of Congenital Heart Diseases, Outpatient Department of Genetic Arrhythmias, Cardinal Wyszynski National Institute of Cardiology, Warszawa, Poland. k.biernacka@ikard.pl., Osadnik T; Genetic Clinic, Independent Public Clinical Hospital No. 1 named after Prof. Stanisław Szyszko, Medical University of Silesia in Katowice, Zabrze, Poland.; Cardiology and Lipid Disorders Clinic, Independent Public Health Care Institution 'REPTY' Upper Silesian Rehabilitation Centre, Tarnowskie Góry, Poland.; Department of Pharmacology, Faculty of Medical Sciences in Zabrze, Medical University of Silesia, Zabrze, Poland., Bilińska ZT; Unit for Screening Studies in Inherited Cardiovascular Diseases, Cardinal Wyszynski National Institute of Cardiology, Warszawa, Poland., Krawczyński M; Chair and Department of Medical Genetics, Poznan University of Medical Sciences, Poznań, Poland., Latos-Bieleńska A; Chair and Department of Medical Genetics, Poznan University of Medical Sciences, Poznań, Poland., Łaczmańska I; Chair and Department of Genetics, Wroclaw Medical University, Wrocław, Poland., Miszczak-Knecht M; Department of Cardiology, The Children's Memorial Health Institute, Warszawa, Poland., Płoski R; Department of Medical Genetics, Medical University of Warsaw, Warszawa, Poland., Ponińska JK; Department of Medical Biology, Cardinal Wyszynski National Institute of Cardiology, Warszawa, Poland., Prejbisz A; Department of Epidemiology, Cardiovascular Prevention and Health Promotion, Cardinal Wyszynski National Institute of Cardiology, Warszawa, Poland., Rubiś P; Department of Cardiac and Vascular Diseases, Jagiellonian University Medical College, Institute of Cardiology, John Paul II Hospital, Kraków, Poland., Rudnicka A; Oncology Association, Sanitas, Sanok, Poland., Szczałuba K; Department of Medical Genetics, Medical University of Warsaw, Warszawa, Poland.; Center of Excellence for Rare and Undiagnosed Disorders, Medical University of Warsaw, Warszawa, Poland., Szczygieł JA; Department of Cardiomyopathy, Cardinal Wyszynski National Institute of Cardiology, Warszawa, Poland., Własienko P; Department of Perinatal Cardiology and Congenital Anomalies, Centre of Postgraduate Medical Education, Warszawa, Poland.; Department of Medical Genetics, Institute of Mother and Child, Warszawa, Poland., Wołczenko A; EcoSerce Association, Koziegłowy, Poland., Zienciuk-Krajka A; Department of Cardiology and Electrotherapy, Medical University of Gdansk, Gdańsk, Poland., Ziółkowska L; Department of Cardiology, The Children's Memorial Health Institute, Warszawa, Poland., Gil R; Department of Cardiology, Central Clinical Hospital of the Ministry of Interior and Administration, Centre of Postgraduate Medical Education, Warszawa, Poland. |
| Abstrakt: |
According to the latest guidelines of European and American medical societies, genetic testing (GT) is essential in cardiovascular diseases for establishing diagnosis, predicting prognosis, enabling initiation of disease-modifying therapy, and preventing sudden cardiac death. The GT result may be relevant for cascade GT in the patient's relatives, for planning his/her profession and physical activity, and for procreative counseling. This position statement has been prepared due to the scarcity of GT in cardiovascular diseases in Poland and the need to expand its availability. We give a concise description of the genetic background of cardiomyopathies, channelopathies, aortopathies, familial hypercholesterolemia, pheochromocytomas, and paragangliomas. The article discusses various aspects of GT in specific populations, such as children or athletes, and also presents prenatal genetic diagnostics. We propose recommendations for GT and counselling, which take into account Polish needs and capabilities. We give an outline of legal regulations, good clinical practice in GT with respect for patient rights, the role of cardiologists and clinical geneticists in GT planning and post-test counseling, and the requirements for laboratories performing genetic tests. The Polish Cardiac Society and Polish Society of Human Genetics experts speak with one voice with cardiovascular patient communities to underline the need for a law on GT and increasing the availability of GT for cardiovascular patients. |
