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Department of Medical Genetics, Medical University of Łódź

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

Realizacja specjalizacji w zakresie genetycznej

diagnostyki laboratoryjnej.

(2)

The Giemsa Magic

A metaphase from a human embryonic cell culture

(Tjio and Levan, 1956)

A metaphase from a human lymphocytes cell culture

(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)

1967 1997 1999 2001 2002 2009

number of laboratories - 31 • reorganisation of Health System in Poland;

• establishment of Health Management Organisation; • first contracts for Hospitals and Outpatient Clinics;

number of laboratories - 33

number of laboratories - 57 Performing of first specialisation procedure in medical genetics for physicians and for diagnosticians.

(5)

Types and frequencies of genetic diseases 3 months

Chromosome

abnormality

and inborn

errors

BIRTH

6 months Puberty

Diseases

of complex

origin

N u m b e r o f in d iv id u a ls Age of expression

Inborn

errors

TYPE Frequency by age 25 yr Frequency after 25 yr Lifetime frequency

Chromosomal disorders 1,8 / 1000 2 / 1000 3,8 / 1000

Single gene disorders 3,6 / 1000 16,4 / 1000 20 / 1000

Multifactorial (part - genetic) disorders 46,4 / 1000 600 / 1000 646,4 / 1000 Somatic cell (cumulative) genetic disorders - 240 / 1000 240 / 1000

(6)
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(8)
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1967 1997 1999 2001 2002 2009

number of laboratories - 31 • reorganisation of Health System in Poland;

• establishment of Health Management Organisation; • first contracts for Hospitals and Outpatient Clinics;

number of laboratories - 33

number of laboratories - 57 Performing of first specialisation procedure in medical genetics for physicians and for diagnosticians.

(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

(14)

prof. T. Mazurczak, MD PhD

Department of Metabolic Diseases, Endocrinology and Diabetology Children’s Memorial Health Institute Warsaw

prof. E. Pronicka, MD PhD

Department of Metabolic Diseases, Endocrinology and Diabetology, The Children’s Memorial Health Institute, Warsaw

prof. J. Nowak, MD PhD

Institute of Human Genetics, Polish Academy of Sciences, Poznan

prof. M. Krajewska-Walasek, MD PhD

Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw

prof. M. Sąsiadek, MD PhD

Department of Genetics, Wroclaw Medical University

prof. B. KałuŜewski, MD PhD

Department and Genetic Outpatient Clinics, Institute of Endocrinology,

Medical University of Lodz

prof. A. Latos-Bieleńska, MD PhD

Center for Medical Genetics, Poznan

prof. J. Limon, MD PhD

Chamber and Department of Biology and Genetics Gdansk Medical University

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

(15)

1967 1997 1999 2001 2002 2009

number of laboratories - 31 • reorganisation of Health System in Poland;

• establishment of Health Management Organisation; • first contracts for Hospitals and Outpatient Clinics;

number of laboratories - 33

number of laboratories - 57 Performing of first specialisation procedure in medical genetics for physicians and for diagnosticians.

(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 doctors on specialists’ study on clinical genetics (30 IX 2008 r.): 41

Number of planned newly opened specialists’ studies: 72

Number of specialists employed (current state):

(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):

(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

(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

(20)
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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

(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?

(26)
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(28)

References

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