How To Test For Medical Genetics

Transcription

1 Realizacja specjalizacji w zakresie genetycznej diagnostyki laboratoryjnej. Warszawa 22 czerwca Ministerstwo Zdrowia. Current status of counselling and medical diagnostics in the public health service in Poland. Bogdan KałuŜewski, Beata Skoczylas, Maria Constantinou International Regional Conference on Medical Genetics March 6-7, 2009 Belgrade, Republic of Serbia Department of Medical Genetics, Medical University of Łódź

2 The Giemsa Magic A metaphase from a human embryonic cell culture (Tjio and Levan, 1956) A metaphase from a human lymphocytes cell culture (KałuŜewski, 1967)

3 The laboratories performing diagnostic tests in the field of medical genetics in 1967 Mother and Child Institute (Warsaw) Institute of Psychiatry and Neurology (Warsaw) Chamber of Ednocrinology, Medical University of Warsaw Depatrment of Medical Genetics, Medical University of Lublin Depatment of Human Genetics, Polish Academy of Science, Poznań Department and Genetic Outpatient Clinic, Institute of Endocrinology, Medical University of Łódź

4 reorganisation of Health System in Poland; establishment of Health Management Organisation; first contracts for Hospitals and Outpatient Clinics; Performing of first specialisation procedure in medical genetics for physicians and for diagnosticians number of laboratories - 6 number of laboratories - 31 number of laboratories - 57 number of laboratories - 33

5 Number of individuals Chromosome abnormality and inborn errors Inborn errors Diseases of complex origin 3 months 6 months BIRTH Puberty Age of expression Types and frequencies of genetic diseases TYPE Frequency by age 25 yr Frequency after 25 yr Lifetime frequency Chromosomal disorders 1,8 / / ,8 / 1000 Single gene disorders 3,6 / ,4 / / 1000 Multifactorial (part - genetic) disorders 46,4 / / ,4 / 1000 Somatic cell (cumulative) genetic disorders / / 1000

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12 reorganisation of Health System in Poland; establishment of Health Management Organisation; first contracts for Hospitals and Outpatient Clinics; Performing of first specialisation procedure in medical genetics for physicians and for diagnosticians number of laboratories - 6 number of laboratories - 31 number of laboratories - 57 number of laboratories - 33

13 The laboratories performing diagnostic tests in the field of medical genetics in 1997 Białystok Department of Clinical Genetics of Medical University, Bydgoszcz Laboratory of Cytogenetics, Regional Children s Hospital in Bydgoszcz Laboratory of Cytogenetics Chair and Department of Clinical Pathomorphology of Medical University, Bydgoszcz Dziekanów Leśny Department of Clinical Genetics, Regional Children s Hospital in Dziekanów Leśny Gdańsk Chair and Department of Biology and Genetics, MU Katowice Department of Medical Genetics, Medical University of Silesia Chair and Department of Pediatric Clinic, Medical University of Silesia Outpatient Clinic of Genetic and Prenatal Diagnosis, Public Hospital No 1 in Katowice Lublin Chair and Department of Forensic Medicine of Medical University, Lublin Department of Medical Genetics with Molecular and Cytogenetic Diagnosis Laboratory of Medical University, Lublin Laboratory of haematologic genetics, Lublin Łodź Medical Genetics of Polish Mother s Memorial Hospital Research Institute, Łódź Department and Clinic of Medical Genetics of Endocrinology Institute, Medical University of Łódź Olsztyn Outpatient clinic of Genetics, Regional Children s Hospital Poznań Human Genetic Institute of Polish Academy of Sciences Chair and Department of Medical Genetics of Medical University, Poznań Clinic of Endocrinology of Internal Diseases Institute of Medical University, Poznań Institute of Healthcare, Medical Genetic Centre Rzeszów Laboratory of Cytogenetics of Outpatient Clinic No 1 Szczecin Department of Genetics and Pathomorphology of Pomeranian Medical University Toruń Laboratory of Cytogenetics, Regional Children s Hospital WarsawDepartment of genetics of Mother and Child Institute, Warsaw Warsaw Children Memorial Health Institute Department of genetics of Psychiatry and Neurology Institute of Medical University, Warsaw Department of pathomorphology of Developmental Period of Medical University, Warsaw Wrocław Department of Medical Genetics, Chair of Pathophysiology of Medical University, Wrocław Genetics Autpatient Clinic - PSK Department of Molecular Biology Bio-Genetik

14 prof. A. Midro, MD PhD Department of Clinical Genetics Medical University of Bialystok prof. O. Haus, MD PhD Department of Clinical Genetics, Collegium Medicum, Nicolaus Copernicus University, Bydgoszcz prof. M. Krajewska-Walasek, MD PhD Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw prof. J. Limon, MD PhD Chamber and Department of Biology and Genetics Gdansk Medical University prof. E. Pronicka, MD PhD Department of Metabolic Diseases, Endocrinology and Diabetology, The Children s Memorial Health Institute, Warsaw prof. A. Latos-Bieleńska, MD PhD Center for Medical Genetics, Poznan prof. B. KałuŜewski, MD PhD Department and Genetic Outpatient Clinics, Institute of Endocrinology, Medical University of Lodz prof. J. Nowak, MD PhD Institute of Human Genetics, Polish Academy of Sciences, Poznan prof. M. Sąsiadek, MD PhD Department of Genetics, Wroclaw Medical University prof. T. Mazurczak, MD PhD Department of Metabolic Diseases, Endocrinology and Diabetology Children s Memorial Health Institute Warsaw

15 reorganisation of Health System in Poland; establishment of Health Management Organisation; first contracts for Hospitals and Outpatient Clinics; Performing of first specialisation procedure in medical genetics for physicians and for diagnosticians number of laboratories - 6 number of laboratories - 31 number of laboratories - 57 number of laboratories - 33

16 The aim of the spacialists study for physicians is to achieve special qualifications in medical genetics and, concerning current knowledge, management with affected patients and families with higher risk of disease of genetic origin. Number of specialists employed (current state): Clinical genetics: 63 Number of doctors on specialists study on clinical genetics (30 IX 2008 r.): 41 Number of planned newly opened specialists studies: 72

17 Specialist in laboratory medical genetics will be an inseparable partner of clinical genetics consultant. This issue is particularly important these days when there is apparent easiness of obtaining diagnostic results of genetic testing. This is not always in accordance with the good medical practice. The additional concern in this matter is caused by necessity of rationalization of treatment and laboratory costs. Without this it is difficult to say about full accessibility to medical procedures. Number of specialists employed (current state): Laboratory medical genetics: 80

18 The laboratories performing diagnostic tests in the field of medical genetics in 2009 Białystok Department of Clinical Genetics of Medical University, Białystok Bielsko Biała Outpatient Clinic of Genetics and Oncology Cancer Center in Bielsko-Biała Bydgoszcz Laboratory of Cytogenetics, Regional Children s Hospital in Bydgoszcz Laboratory of Cytogenetics Chair and Department of Clinical Pathomorphology of Medical University, Bydgoszcz Dziekanów Leśny Department of Clinical Genetics, Regional Children s Hospital in Dziekanów Leśny Gdańsk Chair and Department of Biology and Genetics, Medical University, Gdańsk Department of Clinical Biochemistry of Medical University, Gdańsk Infertility Treatment and Prenatal Diagnostics Clinic Invicta Katowice Department of Medical Genetics, Medical University of Silesia Chair and Department of Pediatric Clinic, Medical University of Silesia Outpatient Clinic of Genetic and Prenatal Diagnosis, Public Hospital No 1 in Katowice Kielce Laboratory of Molecular Biology - Department of Pathology and Cancer Biology of Holycross Cancer Center Legnica Outpatient Clinic of Genetics, Regional Secondary Hospital in Legnica Lublin Chair and Department of Forensic Medicine of Medical University, Lublin Laboratory of Clinical Cytogenetics, Children s Hospital Department of Medical Genetics with Molecular and Cytogenetic Diagnosis Laboratory of Medical University, Lublin Laboratory of haematologic genetics, Lublin Łodź Medical Genetics of Polish Mother s Memorial Hospital Research Institute, Łódź Department and Clinic of Medical Genetics of Endocrinology Institute, Medical University of Łódź Department of Medical Biotechnology of Medical University, Łódź Outpatient Clinic Genos Laboratory of Hormonal Diagnostics Uni-Med. Outpatient Clinic Prenagen Olsztyn Outpatient clinic of Genetics, Regional Children s Hospital in Olsztyn Outpatient clinic of Genetics, Regional Secondary Hospital in Olsztyn Poznań Human Genetic Institute of Polish Academy of Sciences Chair and Department of Medical Genetics of Medical University, Poznań Clinic of Endocrinology of Internal Diseases Institute of Medical University, Poznań DNA Research Center Laboratory of Medical Genetics CB DNA Laboratory of Molecular Diagnosis Gen Med Institute of Healthcare, Medical Genetic Centre Rzeszów Laboratory of Cytogenetics of Outpatient Clinic No 1 in Rzeszów Sosnowiec Outpatient Clinic of Genetics Pediatric Center In Sosnowiec Laboratory of Genetics Genom Szczecin Department of Genetics and Pathomorphology of Pomeranian Medical University Toruń Laboratory of Cytogenetics, Regional Children s Hospital In Torun WarsawDepartment of genetics of Mother and Child Institute, Warsaw Department of genetics of Psychiatry and Neurology Institute of Medical University, Warsaw Department of pathomorphology of Developmental Period of Medical University, Warsaw Department of Medical Genetics of Child Health Center, Warsaw Chair and Department of Forensic Medicine of Medical University Internal Diseases and Arterial Hypertension Clinic of Medical University, Warsaw Institute of Biochemistry and Biophysics of Polish Academy of Sciences Institute of Genetics and Biotechnology of Medical University, Warsaw Laboratory of Molecular Biology Nucleagena Laboratory of Medical Genetics of DNA Research Institute Laboratory of Medical Genetics Bio Gen Infertility Treatment and Prenatal Diagnostics Clinic Invicta Wrocław Department of Medical Genetics, Chair of Pathophysiology of Medical University, Wrocław Genetics Autpatient Clinic - PSK Department of Molecular Biology Bio-Genetik

19 External Quality Assessment organized by Labquality Helsinki College of Laboratory Medicine - Polish administrator Genos takes part since 2003 Department of Medical Genetics MU in Lodz takes part since 2003

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23 Success: Organisation of genetic counselling in Poland funded by National Health Fund contracts. Medical Genetics Specialisation for physicians and diagnosticians. Establishment of international co-operation for genetic diagnostics of inherited diseases with GENDIA and Partners.

24 Failures: Lack of comprehensive programme supporting development of scientific research in clinical genetics. Suspension of works over the list of guaranteed services (so-called basket ). Lack of interest in quality control systems introduction.

25 Czy specjalizacja z laboratoryjnej genetyki medycznej jest potrzebna? Tak. Czy zapotrzebowanie na tą specjalizację będzie się zwiększało? Tak. Czy program specjalizacji powinien być uproszczony? Tak. Czy staŝe specjalizacyjne powinny być skrócone? Tak. Czy specjalizacja wymaga wsparcia finansowego? Tak. Czy warunkiem otwarcia specjalizacji musi być ukończenie studiów w zakresie analityki medycznej? Jednak tak.

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