1. Legal environment of rare disease health policy
in Hungary
XXI/2008/HP: Law on genetic testing, screening
and biobanking
Hungarian Parliament
Ministry of Health Health Commission of the
Parliament
National Public Health and
Medical Officer Service Public Health Program
National Centre for Healthcare
Audit and Inspection
Rare Disease Centre
est. in November 2008 by
modification of Deed of Foundation

2. Structure of Rare Disease Centre
National Centre for Healthcare
Audit and Inspection
Rare Disease Centre
National RD Advisory Board
(universities, governmental,
patient representatives)
National RD Research Coordination
Centre outsourced to the
University of Pécs
(approved by the Senate in April 2009)

3. Structure of Rare Disease Centre
National Centre for Healthcare
Audit and Inspection
Nominated RD responsible persons in the
Rare Disease Centre Ministry of Health, in the National Institute of
Pharmacy
National RD Advisory Board
(universities, governmental, Universities’ internal RD coordination units
patient representatives)
Regular consultation with National Board
National RD Research Coordination for Clinical Genetics
Centre outsourced to Pécs University
(approved by the Senate in April 2009)
Project based collaboration with
sociological centers,
National Foundation for Disabled Persons,
National Centre for Statistics

4. Availability of specific genetic tests
At present
many laboratories with molecular facilities offering genetic tests
small capacities, narrow scale of disorders, lack of quality system
scarsity of genetic specialists, limited reliability
reimbursed by the state without obligation for confluent service
15 genetic counseling clinic (satisfying the minimal requirements)
shortages in registered counselers, services far from the patients
less capacities than needed – inequitable access
Plan for reorganisation of genetic services
(proposed by the National Board for Clinical Council)
→ 6 qualified labs (concentration)
→ increased geographical density of genetic counseling clinics

5. Plans for reorganisation of genetic services
Main goals central genetic diagnostic units
high standard multidiscipl. facilities,
 centralising knowledges and technology
full-scaled genetic labs
 shortening the healthcare pathways of university based
the patients (access in all 50 km circles) biobanking
research and education tasks
„cetres of expertise and reference”
genetic counseling clinics
possibilities for multidiscpl. consult.
presence of trained genetic counselers
taking of samples for tests
„temporary biobanking”
Plans „primary genetic service care”
• the network is coordinated and controlled by a national administrative centre
• units are reimbursed by the national insurance and obliged for continuous service
• centrec have responsibilities for the primary service also (telemedicine)

6. Screening
existing prenatal screening programs: national trisomy-screening
> compulsory screening of nuchal translucency (national)
> compulsory biochemical tests from maternal blood
AFP (!?): national, others (integr. or comb) tests : regional
 conflict of interest between privat firms and the state services
> free acces for the invasive diagnostic test
 restriction of the capacity
Proportion of prenatal diagnosis of Proportion of induced abortion of Down
Down syndrome in Hungary syndrome in Hungarian districts
45
40
35
30
25
%
20
15
10
5
0 75% <
1980-84 1985-89 1990-94 1995-99 2000-02 2003-06 50% - 75%
25% - 50%
< 25%

7. Newborn screening program
National programs (covering all neonates)
From the ~ 60’s: 4 disorders (PKU, galactosaemia, biotinidase
deficiency, hypothyreosis)
at present: 25 inborn errors of metabloism
Tandem mass spectrometry in two centres (Univ. Children Hospitals in
Budapest, Szeged)
Regional (pilot) programs
CAH
Hearing impairment

8. Best practices on RD care
Advisory board for RD
national boards of almost every medical profession have
nominated expert on rare diseases RD
Protocols’ elaboration is organized by the Ministry of Health
RD related guidelines and protocols released on, e.g.
cystic fibrosis
myasthenia gravis
autism spectrum disorders
congenital inborn errors of metabolism
children with MCA/MR
children with mental retardation
Quality system
National Centre of Healthcare Audit and Inspection – to develop external
quality assessment

9. Plans for development of
centres of expertise/reference
At present
expensive therapies available in centres only
the centres are assigned by National Health Insurance Foundation case-by-case
no systematic accreditation, and service development of CE
Ongoing
project on database building of RD providers:
conferences on centers of excellence (2008, 2009)
preparation of accreditation system
concentration of outpatient care for RD

10. Plans for development of
centres of expertise/reference
At present
expensive therapies available in centres only
the centres are assigned by National Health Insurance Foundation case-by-case
80% of patient within 50 km
no systematic accreditation, and service development of CE
50000
45000
number of patients 40000
Ongoing 35000
30000
25000
20000
project on database building of RD providers: 15000
10000
conferences on centers of excellence (2008, 2009)
5000
0
preparation of accreditation system
0
24
9
4
10 9
15 49
22 24
30 99
37 74
12 24
17 74
20 99
25 49
27 74
32 24
35 49
9
0-
-4
-7
-9
39
0-
1
2
1
1
1
2
2
2
3
3
3
concentration of outpatient care for RD
25
50
75
5-
0-
0-
0-
5-
5-
0-
5-
0-
5-
0-
5-
distance (living area – outpatient center; km)

11. Orphan drugs
• few of them is available in Hungary
• if a patient needs orphan drug not commercialized in Hungary: application to
the National Health Insurance Foundation, case-by-case expert group
evaluation, rigorous budgetary constrains preced the decision for special
drug import
• the cost is very small for patients who get permission for the OD
• the National Institute of Pharmacy has no distinct protocol for orphandrugs’
authorization

12. Empowerment of patients organizations
• patients’ representatives are in the Normative from national
3,5%
National RD Advisory Board budget
Non-normative from
9,9%
• there is no regular, direct national budget
governmental support for RD self
1% of personal taxes 0,7%
help groups
National foundations 3,0%
• there are many indirect financing
mechanism of the government: ¼ VAT-refund 0,5%
of the civil budget is from
governmental sources Normative from local
0,4%
governments’ budget
• study on social capital of families Non-normative from
with RD child local governments’ 4,2%
budget
• Governmental institutions
study on the sociological features 1,4%
budget
of RD self-help groups
23,6
governmental together
%

13. EurordisCare3 survey in Hungary
EurordisCare3 Hungary Hun/EC3
Number of medical services used per patient over the last 2 years 9,4 9,2 0,98
Number of different care used per patient over the last 2 years 2,4 1,9 0,81
Rejection by health professionals 17,8% 15,1% 0,85
Rejection linked to the disease 14,7% 12,6% 0,86
Rejection linked to the patients physical aspect 1,8% 1,3% 0,69
Rejection linked to the patients behaviour 1,9% 1,1% 0,60
Rejection linked to the patients communication difficulties 2,6% 1,9% 0,72
Need for social assistance 29,0% 21,0% 0,72
Access to social assistance impossible 4,8% 7,5% 1,58
Access to social assistance difficult 27,4% 34,2% 1,25
Access to social assistance easy 67,8% 58,2% 0,86
Reduction in professional activity as patient 29,0% 30,1% 1,04
Reduction in professional activity to take care of a relative 29,9% 24,8% 0,83
Need for moving 17,8% 25,1% 1,41
to a more adapted house 10,8% 18,3% 1,70
to a specialised care centre 2,3% 3,0% 1,33
nearer to specialists 2,5% 1,2% 0,47
closer to a relative 2,9% 3,7% 1,27

14. Conferences/meetings on multidisciplinary care
Multidisciplinary care of Down-children (2006.)
systematic review of the contribution of different professions
benefit of collaborations
Case studies on Down-families (2007.)
focusing on the crucial problems of the Down-children and their families
identifying intervention targets
Rare disease patients’ organizations role in life quality improvement (2008)Establishing RD health policy
discussion on patient groups as organizations elements by
structure, operation, impact, non-utilized opportunities
Every child is unique (2009)
- utilization of the existing
Montessori pedagogy for handicaped children organizations, legal opportunities,
expertise
Rare Disease Day (2006, 2007, 2008)
for health care professionals - building capacities, networks
Rare Disease Awareness Day (2007, 2008)
participation in HUFERDIS meetings - considering the EU
recommendation
Lectures in conferences on genetics, public health, sociology
Keeping on agenda the
necessity of national program