Public Health Genomics: future paradigm shift for YHC? Prof. dr. Frans J.M. Feron Department of Social Medicine Faculty of Health Medicine and Life Sciences Maastricht University

FHML - Social Medicine – Prof. dr. F. Feron slide 2 2 Public Health Genomics: …the use of genomics information to benefit Public Health …an emerging field of study that assesses the impact of genes and their interaction with behavior, diet and the environment on the population’s health … hits on ‘Genomics’ by Google … hits on ‘Public Health Genomics’ by Google … ‘genomic’ hits by PubMed

FHML - Social Medicine – Prof. dr. F. Feron slide 3 3 The main focus of Child & Youth Health Care: …health - growth – development …the interaction between the genetically biological vulnerable child and the environment where relevant to health – growth - development

FHML - Social Medicine – Prof. dr. F. Feron slide 4 The Health Field Concept Marc Lalonde, 1974

FHML - Social Medicine – Prof. dr. F. Feron slide 5 The Health Field Concept Marc Lalonde, 1974

FHML - Social Medicine – Prof. dr. F. Feron slide 6 Bio-ecological transactional model

FHML - Social Medicine – Prof. dr. F. Feron slide 7 Bio-ecological transactional model

FHML - Social Medicine – Prof. dr. F. Feron slide 8 8 Biopsychosocial model Ref: Brunner & Marmot, 2006

FHML - Social Medicine – Prof. dr. F. Feron slide 9 9 Biopsychosocial model Ref: Brunner & Marmot, 2006

FHML - Social Medicine – Prof. dr. F. Feron slide 10 Genomics  prospective health care: Ref: Snyderman R. The role of genomics in enabling prospective health care. In: Willard H, Ginsburg GS, eds. Genomic and personalized medicine. Durham, NC: Elsevier, 2009:378–85.

FHML - Social Medicine – Prof. dr. F. Feron slide Vanderbilt doing long-term study of child health Dec. 3, 2010, 3:03 a.m. CST Associated Press NASHVILLE, Tenn. (AP) — Vanderbilt University Medical Center in Nashville and others have begun a major long-term study of child health in the United States. The National Children's Study will examine how environment, behavior and genetics impact children's health, development and growth. It will track 100,000 children from before birth to age 21.

FHML - Social Medicine – Prof. dr. F. Feron slide Vanderbilt doing long-term study of child health Dec. 3, 2010, 3:03 a.m. CST Associated Press NASHVILLE, Tenn. (AP) — Vanderbilt University Medical Center in Nashville and others have begun a major long-term study of child health in the United States. The National Children's Study will examine how environment, behavior and genetics impact children's health, development and growth. It will track 100,000 children from before birth to age 21.

FHML - Social Medicine – Prof. dr. F. Feron slide 13 “Classic” example: newborn screening AandoeningPer jaar (NL) Adrenogenitaal Syndroom (AGS)15-20 Biotinidase deficiëntie (BIO)2 Congenitale hypothyreoïdie (CH)70-90 Galactosemie (GAL)6 Glutaar acidurie type I (GA-I)1 HMG-CoA-lyase deficiëntie (HMG)? Homocystinurie (HCY)1-2 Isovaleriaan acidemie (IVA)3 Long-chain hydroxyacylCoA dehydrogenase deficiëntie (LCHAD)? Maple syrup urine disease (MSUD)1 Medium-chain acylCoA dehydrogenase deficiëntie (MCAD) methylcrotonyl-CoAcarboxylase deficiëntie (3-MCC)(?) Multiple CoA carboxylase deficiëntie (MCD)? Phenylketonurie (PKU)10-15 Sikkelcelziekte (SZ)40-60 Thalassemie25-50 Tyrosinemie type I (TYR-I)2 Very long-chain acylCoA dehydrogenase deficiëntie (VLCAD)? Cystic Fibrosis (CF)50 Totaal per jaar op ca

FHML - Social Medicine – Prof. dr. F. Feron slide 14 “Classic” example: newborn screening AandoeningPer jaar (NL) Adrenogenitaal Syndroom (AGS)15-20 Biotinidase deficiëntie (BIO)2 Congenitale hypothyreoïdie (CH)70-90 Galactosemie (GAL)6 Glutaar acidurie type I (GA-I)1 HMG-CoA-lyase deficiëntie (HMG)? Homocystinurie (HCY)1-2 Isovaleriaan acidemie (IVA)3 Long-chain hydroxyacylCoA dehydrogenase deficiëntie (LCHAD)? Maple syrup urine disease (MSUD)1 Medium-chain acylCoA dehydrogenase deficiëntie (MCAD) methylcrotonyl-CoAcarboxylase deficiëntie (3-MCC)(?) Multiple CoA carboxylase deficiëntie (MCD)? Phenylketonurie (PKU)10-15 Sikkelcelziekte (SZ)40-60 Thalassemie25-50 Tyrosinemie type I (TYR-I)2 Very long-chain acylCoA dehydrogenase deficiëntie (VLCAD)? Cystic Fibrosis (CF)50 Totaal per jaar op ca

FHML - Social Medicine – Prof. dr. F. Feron slide Example: ADHD Russell A. Barkley, 2006 The totality of evidence indicates that neurological and genetic factors play a substantial role in the origins and the expression of this disorder

FHML - Social Medicine – Prof. dr. F. Feron slide ADHD: genetic contribution is a “fact in the bag” Evidence-based genetic association with ADHD:  DRD4- dopamine D4 receptor  DRD5- dopamine D5 receptor  DAT- dopamine transporter gen  DBH- dopamine β-hydroxylase  5-HTT- serotonin transporter gen  HTR1B- serotonin receptor gen  SNAP-25- synaptosomal-associated protein 25 Faraone et al, Biol Psychiatry, 2005;57:1313

FHML - Social Medicine – Prof. dr. F. Feron slide 17 Example: schisis

FHML - Social Medicine – Prof. dr. F. Feron slide 18 Example: early life stress

FHML - Social Medicine – Prof. dr. F. Feron slide 19 Example: Child maltreatment Ref: Nature Neuroscience 2009, vol. 12 no. 8

FHML - Social Medicine – Prof. dr. F. Feron slide 20 Paradigm shift:

FHML - Social Medicine – Prof. dr. F. Feron slide 21

FHML - Social Medicine – Prof. dr. F. Feron slide Challenges and benefits PH-Genomics for child and youth health care… To develop and make family history tools available for prevention To understand health effects of gene-environment interaction via public health investigations To improve quality of life for our children & families To reduce health costs through early detection and intervention To improve long-term health outcomes in a life course perspective, with children transitioning to healthy and productive adults Child Health Genomics Working Group, Canada 2008

FHML - Social Medicine – Prof. dr. F. Feron slide 23 On behalf of all children… …I wish you lots of (genomics-)inspiration for the future!

Thank you for your attention Maastricht, Prof. dr. Frans J.M. Feron