Transcript Dia 1 - EMGO

Governance of the European newborn
screening systems. What framework for
future EU newborn screening policies in the EU
Martina Cornel, MD, PhD
Professor of community genetics
& public health genomics
On behalf of the Tender NBS team
EURORDIS
Amsterdam
14th May 2011
Quality of Care
Community Genetics, Dept Clinical Genetics
EMGO Institute for Health and Care Research
• Introduction
• Survey
– Who decides
– Transparency
Neonatal screening (heelprick)
Neonatal screening NL 2006-2007
•
Biotinidase deficiency
•
Cystic fibrosis (conditional; pilot 2008; start 2011)
•
Galactosemia
•
Glutaric aciduria type I
•
HMG-CoA-lyase deficiency
•
Holocarboxylase synthase deficiency
•
Homocystinuria
•
Isovaleric acidemia
•
Long-chain hydroxyacyl CoA dehydrogenase
deficiency
•
Maple syrup urine disease
•
MCAD deficiency
mental retardation or
•
3-methylcrotonyl-CoA carboxylase deficiency
sudden death
•
Sickle cell disease
•
Tyrosinemia type I
•
Very-long-chain acylCoA dehydrogenase deficiency
2006
• PKU (1974)
• Congenital
hypothyroidism (1981)
• Congenital Adrenal
Hyperplasia (2001)
Medication or
diet to avoid
Why more diseases?
• More treatment available
– Early detection: less health damage
• More tests available (high throughput)
– MS/MS
• Many more promises in the age of
genomics: how to proceed?
Sir Muir Gray (Nat Scr Comm UK)
All screening programmes do harm. Some
do good as well and, of these, some do
more good than harm at reasonable cost.
To screen or not to screen?
• How to balance pros and cons?
Screening criteria: W&J still apply!
• When to screen?
– Wilson en Jungner WHO 1968.
– A variety of sets of criteria derived from W&J
• Important public health problem (prevalence & severity)
• Is treatment available? Does early treatment help?
• Course of disease known; frequency known
• Good test (high sensitivitity; high specificity, high positive
predictive value)
• Uniform treatment protocol; knowing whom to treat
• Etc
Screening criteria
(Grosse, Public Health Genomics 2010)
• Evidence
– Early treatment leads to less mortality, morbidity, loss of
weight, days in hospital, pain, suffering, better QoL
• Economics
– Limited health care resources; cost per QALY under limit
• Ethics
– More pros (longer and healthier life) than cons (false
positives; mild cases; incidental findings)
• Introduction
• Survey
– Who decides
– Transparency
EU Tender
• “Evaluation of population newborn screening practices for
rare disorders in Member States of the European Union”
• Deliver:
– Report on the practices of NBS for rare disorders
implemented in all Member States
– Expert opinion document, including decision-making
matrix, on the development of European policies in the
field of newborn screening for rare diseases
– EU Network of Experts on NBS (EUNENBS)
– European Experts Consensus Workshop on NBS (June
2011)
European Commission decisions + actions
• Nov 11, 2008: adoption of
Commission Communication nr 679
• June 9, 2009: Council
recommendation on a European
Action in the field of Rare Diseases
• July 18, 2009: EAHC call for tender
2009/Health/09 concerning evaluation
of population newborn screening
practices for rare disorders in EU
Member States
EU Tender, project group
• Luciano Vittozzi, Domenica Taruschio (ISS, Rome,
Italy)
– Project leader, logistics
• Martina Cornel, Tessel Rigter, Stephanie Weinreich
(VUmc, Amsterdam, Netherlands)
– Governance
• Gerard Loeber (RIVM, Bilthoven, Netherlands)
– Screening (blood sampling, assays, reports,
storage)
• Georg Hoffmann, Peter Burgard, Kathryn Rupp
(Univ Heidelberg, Heidelberg, Germany)
– Confirmatory diagnostics, treatment
EU Tender, action plan
• (2010) Set up surveys stratified to parts of the
neonatal screening programme
• (2010) Compile lists of experts (DoH, laboratories,
paediatricians)
• (2010-2011) Receive and evaluate results of
survey
• Workshops (March 2010, Dec 2010)
• (2011) Draft documents sent out for comments
• (2011) Finalisation of documents (May-June)
• (2011) Consensus workshop (June)
• Introduction
• Survey
– Who decides
– Transparency
Governance
– Attunement between parties
Achterbergh et al. Health Policy 2007; 83: 277-286.
Andermann et al. Journal of Health Services Research & Policy 2010; 15: 90-97.
Attunement between parties
• Health regions
– Society, medicine, industry, government
• Countries
– Society, medicine, industry, government
• EU?
– Some aspects of attunement are not country
specific-> room for collaboration
– Learn from others?
Governance
• 17 of 35 jurisdictions surveyed reported to have
laws or regulations on newborn screening
• 18 have a body which oversees newborn
screening (“steering committee”)
• 22 have changed NBS program in last 5 years
– health authorities almost always involved
• physicians specialized in paediatrics and clinical
chemistry in one case (Sweden)
– health technology assessors sometimes
– patient organisations sometimes
Involvement of patient organisations
in changes in NBS programs 2005-2010
• 22 jurisdictions (21 countries) expanded
their neonatal screening programs in the
last 5 years.
• In 8 of these 22 cases patient groups were
involved in the decision to expand neonatal
screening.
Advocacy groups for screened disorders: 2010
22 jurisdictions
17 have advocacy groups specific to screened
disorders
– started after NBS
– existing before NBS
2 do not
3 unknown
NBS policy changes 2005 to 2010
Advocacy
groups involved
Advocacy groups not
involved
No policy changes
in last 5 years or
no indications
Belgium
(Flanders)
Bulgaria
France
Ireland
Poland
Romania
Norway
Belgium (French
Community)
Czech Republic
Germany
Netherlands
Portugal
Slovakia
Spain
Sweden
UK
Iceland
Austria
Estonia
Finland
Italy
Latvia
Lithuania
Malta
Slovenia
Croatia
Serbia
Switzerland
Advocacy groups
not existing 2010
-
Greece
FYROM
Cyprus
Albania
Advocacy groups
existence
unknown 2010
Hungary (item
missing)
Denmark
Luxembourg
-
Advocacy groups
existing 2010
Questions for further research
• When were the advocacy groups founded?
• Which countries chose not to involve
already existing groups in the expansion of
NBS?
• Are all screened conditions now covered by
advocacy groups in all countries?
Evaluation -> decision?
• Introduction
• Survey
– Who decides
– Transparency
Transparency: extend further?
• Reports of committees (HTA)
– Review of literature
– Expert hearings
• Pilot studies
• Lists of evaluation criteria
– International recommendations; professional
societies
• Decision of ministry in official statement
Transparency: information to parents
• Website in 19 out of 35 countries where anyone
can get information about the newborn screening
program
• 7 out of 35 of the responding jurisdictions do not
actively inform prospective parents
• No country specifically informs prospective
parents in the first or second trimester of the
pregnancy
• 13 countries inform prospective parents only after
birth at the time of blood sampling
• 12 out of 35 countries parents are informed at two
or even three time points
Transparency: information to parents
• Material to support the first communication of the
meaning of consequences of a positive NBS result
is available in 41% of the countries.
Predominantly the material is authored by local
heads or directors (68%), but apparently applied
on a national level (83%).
• Printed or digital material on treatment is
available in 69% of the countries. Across all
disorders printed or digital material is available in
69% of the countries. Authors predominantly are
local heads or directors (61%).
Informed consent
• 20 of the 37 responding jurisdictions report to ask
for informed consent (or dissent). 17 of them also
have the possibility to opt-out.
• 17 of the 37 report that they do not ask informed
consent (or dissent) from parents before the blood
sampling
– 6 out of 17 report that they do have the
possibility to opt-out from screening
– 7 said not to have informed consent (or
dissent) nor to allow opting out
Fireworks disaster Enschede 13 mei 2000
• Children amongst 23 victims
• Identification?
• Heelprick cards?
-> discussion in media undermining trust
Research?
• In 15 out of 33 countries parents are informed
about the fact that bloodspots are retained
Information on blood spot retention
• More than half of countries do not inform parents
of blood spot retention
• This is an easy topic; information should be
available in all countries
• Large variation in length of storage (1 y till >20 y)
• Striking number of countries with no defined
length
• Variation within countries e.g. Spain and Italy
• Discussion is needed on storage
Conclusion
• Challenging field, fast changes in most EU
countries
• Huge variety
• Not all patients with rare diseases profit from
optimal NBS programs
• Collaboration needed
– Training
– Exchange of experiences, materials, etc
• Role for patients(organisations)!
Framework for future policies?
• Attunement in jurisdictions
– Supported by HTA at EU level?
• Important health problem, treatment available,
early treatment helps to prevent irreparable
damage (assessment W&J criteria)
– Horizon scanning at EU level to support decision
making in member states?
• Learn from other EU memberstates
– Training, translation of protocols, exchange?
Thanks !!!