Further expansion of the neonatal screening panel in the Netherlands
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1 Further expansion of the neonatal screening panel in the Netherlands J.Gerard Loeber APHL-NBSGT, St.Louis (MO), USA
2 Population Area Newborns 6.01 million 0.35: million 180,693 sq km 4.3:1 41,526 sq km 75, :1 170,000
3 Screening programmes in NL Overall responsibility by the Ministry of Health New programmes/expansion after advice of Health Council (cf. IRB) Implementation responsibility by RIVM-Centre for Population Screening Independent annual evaluation by TNO-Child Health Costs born by social security fund, no fee for parents
4 Ministry of Health Health Council 3. assignment for pilot 5. results pilot 6. Assignment implementation 4. funding request Neth.Org.Health Res. RIVM
5 GezondheidsRaad = Health Council (publication 2007)
6 Periodic discussion on screening panel Health Council reports in 1979, 2005, 2010, 2015 Review of literature and contact with international colleagues Yardstick are the Wilson & Junger criteria
7 Published in 1968 Probably the most cited reference in publications and policy documents concerning screening
8 Current panel (since 2011) CAH, CH Biotinidase deficiency Galactosemia Glutaric aciduria type 1 HMG-CoA-lyase deficiency Holocarboxylase synthase deficiency Homocystinuria Isovaleric acidemia Long-chain hydroxyacyl-coa dehydrogenase deficiency (LCHAD) Maple syrup urine disease Medium-chain acyl-coa dehydrogenase deficiency (MCADD) 3-Methylcrotonyl-CoA carboxylase deficiency Phenylketonuria Tyrosinemia type I Very-long-chain acyl-coa dehydrogenase deficiency (VLCAD) Sickle cell disease Cystic Fibrosis (Hearing loss)
9 Health Council advice April 8, (publication 2015)
10 Categories 1: Conditions that qualify for inclusion - Neonatal screening prevents significant, irreversible damage and/or yields substantial health gains for the child - AND - A test of proven quality is available
11 Conditions in Category 1 Carnitine acylcarnitine translocase deficiency (CACT) Carnitine palmitoyltransferase deficiency type 1 (CPT1) Carnitine palmitoyltransferase deficiency type 2 (CPT2) Guanidinoacetate methyltransferase deficiency (GAMT) Methyl-acetoacetyl-CoA thiolase deficiency; ketothiolase deficiency (MAT) Methylmalonic acidemia (MMA) Organic cation transporter 2 (OCTN2) Propionic acidemia (PA) Mucopolysaccharidosis type 1 (MPS1) X-linked adrenoleucodystrophy (X-ALD) Severe combined immune deficiency (SCID) Beta-thalassemia major (TM), HBH-disease
12 Categories 2A: Conditions that require further study - Neonatal screening prevents significant, irreversible damage and/or yields substantial health gains for the child - BUT - A test of proven quality is not (yet) available Pompe s disease not to be included Cerebrotendinous xanthomatosis (CTX) not to be included Phosphoglucomutase 1 deficiency (PGM 1) not to be included Cystinosis not to be included Methylene tetrahydrofolate reductase deficiency (MTHFR) not to be included
13 Categories 2B: Conditions that may be considered for inclusion after weighing the advantages and disadvantages, including cost-effectiveness - Neonatal screening yields some health gains - A test of proven quality is available Galactokinase deficiency (GALK) to be included Argininosuccinate lyase deficiency (ASL) not to be included
14 3: Conditions that do not qualify for inclusion - Neonatal screening yields no health gains Note: There may be other advantages for quality of life, such as shortening the diagnostic process (without prevention or limitation of damage to health) Multiple Acyl-CoA dehydrogenase deficiency (MADD) not to be included Citrulinemia type 1 not to be included
15 In conclusion: further expansion of panel with Carnitine acylcarnitine translocase deficiency (CACT) Carnitine palmitoyltransferase deficiency type 1 (CPT1) Carnitine palmitoyltransferase deficiency type 2 (CPT2) Galactokinase deficiency (GALK) Guanidinoacetate methyltransferase deficiency (GAMT) Methyl-acetoacetyl-CoA thiolase deficiency; ketothiolase deficiency (MAT) Methylmalonic acidemia (MMA) Organic cation transporter 2 (OCTN2) Propionic acidemia (PA) Mucopolysaccharidosis type 1 (MPS1) X-linked adrenoleucodystrophy (X-ALD) Severe combined immune deficiency (SCID) Beta-thalassemia major (TM), HBH-disease discontinue: homocystinuria
16 In addition What to do with incidental findings, including carriers?
17 Incidental findings Incidental findings are unintended findings that do raise questions. Main question: What is of interest to the newborn child? Incidental findings may be clinically meaningful, of unclear meaning or not clinically meaningful. Clinically meaningful conditions with possible actions: report Clinically meaningful conditions with no possible actions: do not report EXCEPTION: Carriers Carrier status is a clinically meaningful incidental finding. However, the child's right to later decide for himself/herself about knowing or not knowing about carrier status is more important than the interests of the parents in terms of making reproductive choices. Therefore, do not report carrier status!
18 Decision of Minister of Health Already one week after publication of the advice the MoH accepted it for implementation. Under pressure of patient/advocacy groups she decided later that the possible inclusion of non-treatable conditions should be investigated as well.
19 Next steps The National Institute for Public Health (RIVM) has been commissioned to work out an implementation plan, in collaboration with all parties concerned laboratory techniques information materials for professionals information materials for parents expansion of the administrative databases etc. etc. no need to start all new conditions at the same moment Plan should be ready by spring 2017
20 BUT, remember
21 International Society for Neonatal Screening ISNS Silver Jubilee: 25 years of sharing knowledge globally 9th ISNS international symposium The Hague, the Netherlands September 11-14,
22 International Journal of Neonatal Screening (ISSN X) The official journal of the International Society for Neonatal Screening (ISNS) Advantages Open Access Unlimited and free access for readers No Copyright Constraints Retain copyright of your work and free use of your article Fast Manuscript Handling Processing Thorough Peer-Review No Space Constraints, No Extra Space or Color Charges No restriction on the length of the papers, number of figures or colors
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