current status of counselling and medical diagnostics in...

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

International Regional Conference on Medical Genetics

March 6 - 7, 2009

Belgrade, Republic of Serbia

prof. Tadeusz Pawlikowski MD PhD

Dictum sapienti sat estTerentius

The Giemsa Magic

A metaphase from a human embryoniccell culture

(Tjio and Levan, 1956)

A metaphase from a human lymphocytes cell culture

(KałuŜewski, 1967)

sumyears

22

1995 - 2009

1996 - 2000

2007 - 2010

Mamber and/or Chairman of Medical Genetics and Molecular Biology Task Group of the College of Laboratory Medicine

131996 - 2009Member of the board of the College of Laboratory Medicine

62003 - 2009Chairman of theMedical Speciality Advisory Board of Ministry of Health for laboratory acreditation in the field of Medical Genetics

381971 - 2009Member of Scientific Board in Genetics of Polish Academy of Science

62003 - 2009Member of Research Board Institute of Genetics of Polish Academy of Science

381971 - 2009Founder and member of Polish Society of Genetics

92000 - 2009Member and chairman (several times) of Polish Society of Human Genetics, Lodz region

31987 - 1990Visiting professor of the Department of Medical Genetics, Thomas Jefferson University, Philadelphia

131996 - 2009Member of editorial board - Journal of Applied Genetics (JAG)

92000 - 2009Founder and Holder of the Outpatient Clinic Genos

141995 -2009Member of European Cytogeneticists Association / ECA

52002 - 2007Regional and Voivodship Consultant in the field of Medical Genetics

421967 - 2009Founder and Head of Department of Medical Genetics and Outpatient Clinic MU of Lodz

218total

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 OutpatientClinic, Institute of Endocrinology, Medical University of Łódź

1967 20091997 1999 2001 2002

number of laboratories - 31

• 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.


Types and frequencies of genetic diseases

3

months

Chromosome

abnormality

and inborn

errors

BIRTH6

monthsPuberty

Diseases

of complex

origin

Number of individuals

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

1967 20091997 1999 2001 2002







Performing of first specialisationprocedure in medical genetics for physicians and for diagnosticians.


The laboratories performing diagnostic tests

in the field of medical genetics in 1997

BiałystokDepartment of Clinical Genetics of Medical University, BydgoszczLaboratory of Cytogenetics, Regional Children’s Hospital in BydgoszczLaboratory of Cytogenetics – Chair and Department of Clinical Pathomorphology of Medical University, BydgoszczDziekanów LeśnyDepartment of Clinical Genetics, Regional Children’s Hospital in Dziekanów LeśnyGdańskChair and Department of Biology and Genetics, MUKatowiceDepartment of Medical Genetics, Medical University of SilesiaChair and Department of Pediatric Clinic, Medical University of SilesiaOutpatient Clinic of Genetic and Prenatal Diagnosis, Public Hospital No 1 in KatowiceLublinChair and Department of Forensic Medicine of Medical University, LublinDepartment of Medical Genetics with Molecular and Cytogenetic Diagnosis Laboratory of Medical University, Lublin Laboratory of haematologic genetics, LublinŁodźMedical Genetics of Polish Mother’s Memorial Hospital Research Institute, ŁódźDepartment and Clinic of Medical Genetics of Endocrinology Institute, Medical University of ŁódźOlsztynOutpatient clinic of Genetics, Regional Children’s Hospital PoznańHuman Genetic Institute of Polish Academy of Sciences Chair and Department of Medical Genetics of Medical University, PoznańClinic of Endocrinology of Internal Diseases Institute of Medical University, PoznańInstitute of Healthcare, Medical Genetic CentreRzeszówLaboratory of Cytogenetics of Outpatient Clinic No 1 SzczecinDepartment of Genetics and Pathomorphology of Pomeranian Medical UniversityToruńLaboratory of Cytogenetics, Regional Children’s Hospital WarsawDepartment of genetics of Mother and Child Institute, WarsawWarsaw Children Memorial Health InstituteDepartment of genetics of Psychiatry and Neurology Institute of Medical University, WarsawDepartment of pathomorphology of Developmental Period of Medical University, WarsawWrocławDepartment of Medical Genetics, Chair of Pathophysiologyof Medical University, WrocławGenetics Autpatient Clinic - PSKDepartment of Molecular Biology „Bio-Genetik”

1967 20091997 1999 2001 2002









The aim of the spacialists’ studyfor physicians is to achieve specialqualifications in medical geneticsand, concerning currentknowledge, management withaffected patients and families withhigher risk of disease of geneticorigin.

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

Number of planned newly openedspecialists’ studies: 72

Number of specialists employed(current state):

Clinical genetics: 63

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

The laboratories performing diagnostic tests in the field of medical genetics in 2009

BiałystokDepartment of Clinical Genetics of Medical University, BiałystokBielsko BiałaOutpatient Clinic of Genetics and Oncology – Cancer Center in Bielsko-BiałaBydgoszczLaboratory of Cytogenetics, Regional Children’s Hospital in BydgoszczLaboratory of Cytogenetics – Chair and Department of Clinical Pathomorphologyof Medical University, BydgoszczDziekanów LeśnyDepartment of Clinical Genetics, Regional Children’s Hospital in Dziekanów LeśnyGdańskChair and Department of Biology and Genetics, Medical University, GdańskDepartment of Clinical Biochemistry of Medical University, GdańskInfertility Treatment and Prenatal Diagnostics Clinic “Invicta”KatowiceDepartment of Medical Genetics, Medical University of SilesiaChair and Department of Pediatric Clinic, Medical University of SilesiaOutpatient Clinic of Genetic and Prenatal Diagnosis, Public Hospital No 1 in KatowiceKielceLaboratory of Molecular Biology - Department of Pathology and Cancer Biology of Holycross Cancer CenterLegnicaOutpatient Clinic of Genetics, Regional Secondary Hospital in LegnicaLublinChair and Department of Forensic Medicine of Medical University, LublinLaboratory of Clinical Cytogenetics, Children’s HospitalDepartment of Medical Genetics with Molecular and Cytogenetic Diagnosis Laboratory of Medical University, Lublin Laboratory of haematologic genetics, LublinŁodźMedical Genetics of Polish Mother’s Memorial Hospital Research Institute, ŁódźDepartment and Clinic of Medical Genetics of Endocrinology Institute, Medical University of ŁódźDepartment of Medical Biotechnology of Medical University, ŁódźOutpatient Clinic „Genos”Laboratory of Hormonal Diagnostics „Uni-Med.”Outpatient Clinic „Prenagen”OlsztynOutpatient clinic of Genetics, Regional Children’s Hospital in OlsztynOutpatient clinic of Genetics, Regional Secondary Hospital in OlsztynPoznańHuman Genetic Institute of Polish Academy of Sciences Chair and Department of Medical Genetics of Medical University, PoznańClinic of Endocrinology of Internal Diseases Institute of Medical University, PoznańDNA Research Center – Laboratory of Medical Genetics „CB DNA”Laboratory of Molecular Diagnosis „Gen Med”Institute of Healthcare, Medical Genetic CentreRzeszówLaboratory of Cytogenetics of Outpatient Clinic No 1 in RzeszówSosnowiecOutpatient Clinic of Genetics – Pediatric Center In SosnowiecLaboratory of Genetics „Genom”SzczecinDepartment of Genetics and Pathomorphology of Pomeranian Medical UniversityToruńLaboratory of Cytogenetics, Regional Children’s Hospital In TorunWarsawDepartment of genetics of Mother and Child Institute, WarsawDepartment of genetics of Psychiatry and Neurology Institute of Medical University, WarsawDepartment of pathomorphology of Developmental Period of Medical University , WarsawDepartment of Medical Genetics of Child Health Center, WarsawChair and Department of Forensic Medicine of Medical UniversityInternal Diseases and Arterial Hypertension Clinic of Medical University, Warsaw Institute of Biochemistry and Biophysics of Polish Academy of SciencesInstitute of Genetics and Biotechnology of Medical University, WarsawLaboratory of Molecular Biology „Nucleagena”Laboratory of Medical Genetics of DNA Research InstituteLaboratory of Medical Genetics „Bio Gen”Infertility Treatment and Prenatal Diagnostics Clinic “Invicta”WrocławDepartment of Medical Genetics, Chair of Pathophysiology of Medical University, WrocławGenetics Autpatient Clinic - PSKDepartment of Molecular Biology „Bio-Genetik”

1967 20091997 1999 2001 2002









Financial Issues of Medical Genetics in Poland (I)National Health Fund

1. Specialistic Outpatient Care:Complex genetic consultation:9 points x 9.00 PLN = 81.00 PLN = 16.53 €Counselling in neoplasmatic disease:4 points x 9.00 PLN = 36.00 PLN = 7.35 €

2. Specialistic Outpatient Care (High-cost diagnostic tests):28 points x 8.00 PLN = 224.00 PLN = 45.71 €

1 € = 4.90 PLN

3. Medical services enabled in separate contracts:Neoplasmatic diseases:45 points x 11.20 PLN = 504.00 PLN = 102.86 €Non-neoplasmatic diseases:90 points x 11.20 PLN = 1 008.00 PLN = 209.71 €

4. Profilactic programme of prenatal diagnostics:Genetic Counsel:4 points x 11.00 PLN = 44.00 PLN = 8.98 €Utrasound testing:30 points x 11.00 PLN = 330.00 PLN = 67.35 €Amniocentesis:30 points x 11.00 PLN = 330.00 PLN = 67.35 €Cytogenetics and Biochemical tests:120 points x 11.00 PLN = 1 320.00 PLN = 269.39 €Total: 184 points x 11.00 = 2 024.00 PLN = 413.06 €

1 € = 4.90 PLN

Financial Issues of Medical Genetics in Poland (II)National Health Fund

He who has not the spirit of this age,

has all the misery of it.

Voltaire

AOTM (Health Technology Assessment Agency) (I)

Specification and pricing of medical procedures enabling

dignostics of diseases

AOTM

„Basket”of guaranteed

services

18 000 procedures in total70 procedures for medical genetics

„basket”

project: prof. Bogdan KałuŜewski et al. project: prof. Jacek Zaremba

Services are described as comprehensive procedure (excluding additionals: nucleic acid

isolation cryopreservation, which can and should be mentioned independently).

- Procedures described after ICD-9 classification for laboratory diagnostic tests).

It shows how they are constructed

- Database of mentioned services should be a basis for National Health Fund.

- Services described after CPT-PL 2006 - they are parts of comprehensive procedures.

- Services are assigned to genetic diagnostics of neoplasmatic and non-neoplasmatic

diseases. These makes current National Health Fund’s classification fixed.

National HealthFund

Complex diagnosticsof neoplasmatic

disease with methodsof molecularcytogenetics

National HealthFund

Complex diagnosticsof non-neoplasmaticdisease with methods

of molecularcytogenetics

Database

www.genos.com.pl

Gendia and Partners

7- years experience

Heamophilia A, activity of factor VIII - 1%, 2000r.

Classical prenatal cytogenetic diagnostics was performed, excluding neural tube defects andconfirming normal male karyotype. DNA probe from amniocytes did not containmutation in F8 gene (13 VII 2004).Normal delivery (6 XI 2004). APTT - 42.8 s (N from 42 to 65 s).

First contact with Genetic Outpatient Clinic - 26 V 2004. DNA isolation from peropheral blood lymphocytes (pregnantwoman in 15 hbd by Ultrasound). Inversion of 22 exon was excluded, mutation R5X (CGA>TGA) was confirmed in 1 exon of F8 gene(6 VI 2004). Amniocentesis, karyotype, DNA isolation fromamniocytes, biochemical testing (31 V 2004, 16 hbd by Ultrasound). Interphasal cytogenetic testing - male karyotype(46,XY - 2 VI 2004 - 24 hours after amniocentesis).

External Quality Assessmentorganized by Labquality Helsinki

College of Laboratory Medicine - Polish administrator

Genostakes part since 2003

Department of Medical Genetics MU in Lodztakes part since 2003

AOTM (Health Technology Assessment Agency) (I)

Specification and pricing of medical procedures enabling

dignostics of diseases

AOTM

„Basket”of guaranteed

services

18 000 procedures in total70 procedures for medical genetics

AOTM (Health Technology Assessment Agency) (II)

Wojciech Matusewicz MDDirector of the Agency

Wojciech Matusewicz MD to politicians:

Q: Do all of the procedures are neccesary?

Q: Does the diagnostic and terapeutic effectiveness follow WHO standards?

Q: Do further works on this „product” is a „chase after rabbit”, or their aim is to „catch it”?

Answers to these questions would be fascinating due to the fact that budget of the monopolistic National Health Fund can turn out to be too little, too big or exactly as it should be.

This can have significant political significance…

1 € = 4.90 PLN

READ-GENE

• High-risk genetic test for breast cancer:(21 mutations of BRCA1 and BRCA2 found in Polishpopulation) 545.00 PLN = 111.20 €

• High-risk genetic test for colon cancer:(Mutations of MSH2, MSH6, MLH1 and APC genesfound in Polish populations)545.00 PLN = 111.20 €

• High-risk genetic test for prostate cancer:(Mutations of BRCA1, NBS1 and CHEK2 genes)395.00 PLN = 80.61 €

• Low-risk tests for multiple organ cancers:(Mutations in BRCA2, XPD, MC1R, VDR, CYP1B1, TP53, NOD2, CHEK2, FGFR2, MAP3K, TNRC5, CDKN2A, MTHFR, ATM and NBS1)545.00 PLN = 111.20 €

• High-risk genetic test for prostate cancer:(Mutations of BRCA1, NBS1 and CHEK2 genes)395.00 PLN = 80.61 €

• Low-risk tests for multiple organ cancers:(Mutations in BRCA2, XPD, MC1R, VDR, CYP1B1, TP53, NOD2, CHEK2, FGFR2, MAP3K, TNRC5, CDKN2A, MTHFR, ATM and NBS1)545.00 PLN = 111.20 €

• Low-risk genetic test for breast cancer:695.00 PLN = 141.84 €

• Test for qualification for cis-platin treatment:120.00 PLN = 24.49 €

• Test for qualification for PARP inhibitor treatment:120.00 PLN = 24.49 €

• Test for qualification for trabectedin treatment:120.00 PLN = 24.49 €

• Consultations by e-mail or telephone:From 90.00 PLN to 300.00 PLN = From 18.37 € to 61.22 €

Success:

• Organisation of genetic counsellingin Poland funded by National Health Fund contracts.

• Medical Genetics Specialisation for physiciansand diagnosticians.

• Establishment of international co-operationfor genetic diagnostics of inherited diseaseswith GENDIA and Partners.

Failures:

• Lack of comprehensive programmesupporting development of scientific researchin clinical genetics.

• Suspension of works over the list of guaranteed services (so-called „basket”).

• Lack of interest in quality control systemsintroduction.

CKD building - 9 th floor

General view of our Department of Medical Genetics(under construction)

current status of counselling and medical diagnostics in...

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