Public Health Genomics:

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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 f.feron_at_maastrichtu
niversity.nl
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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
  populations health
• 18.800.000 hits on Genomics by Google
• 1.320.000 hits on Public Health Genomics by
  Google
• 798.385 genomic hits by PubMed

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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

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The Health Field ConceptMarc Lalonde, 1974
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The Health Field ConceptMarc Lalonde, 1974
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Bio-ecological transactional model
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Bio-ecological transactional model
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Biopsychosocial model
Ref Brunner Marmot, 2006
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Biopsychosocial model
Ref Brunner Marmot, 2006
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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, 200937885.
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Vanderbilt doing long-term study of child
health Dec. 3, 2010, 303 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.
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Vanderbilt doing long-term study of child
health Dec. 3, 2010, 303 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.
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Classic example newborn screening
Aandoening Per 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) 15-17
3-methylcrotonyl-CoAcarboxylase deficiëntie (3-MCC) (?)
Multiple CoA carboxylase deficiëntie (MCD) ?
Phenylketonurie (PKU) 10-15
Sikkelcelziekte (SZ) 40-60
Thalassemie 25-50
Tyrosinemie type I (TYR-I) 2
Very long-chain acylCoA dehydrogenase deficiëntie (VLCAD) ?
Cystic Fibrosis (CF) 50
Totaal per jaar op ca 180.000 240-320
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Classic example newborn screening
Aandoening Per 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) 15-17
3-methylcrotonyl-CoAcarboxylase deficiëntie (3-MCC) (?)
Multiple CoA carboxylase deficiëntie (MCD) ?
Phenylketonurie (PKU) 10-15
Sikkelcelziekte (SZ) 40-60
Thalassemie 25-50
Tyrosinemie type I (TYR-I) 2
Very long-chain acylCoA dehydrogenase deficiëntie (VLCAD) ?
Cystic Fibrosis (CF) 50
Totaal per jaar op ca 180.000 240-320
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Example ADHD
The totality of evidence indicates that
neurological and genetic factors play a
substantial role in the origins and the
expression of this disorder

• Russell A. Barkley, 2006

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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 ß-hydroxylase
• 5-HTT - serotonin transporter gen
• HTR1B - serotonin receptor gen
• SNAP-25 - synaptosomal-associated protein 25

Faraone et al, Biol Psychiatry, 2005571313
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Example schisis
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Example early life stress
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Example Child maltreatment
Ref Nature Neuroscience 2009, vol. 12 no. 8
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Paradigm shift
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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
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On behalf of all children
I wish you lots of (genomics-)inspiration for
the future!
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Thank you for your attention Maastricht, 2011 -
Prof. dr. Frans J.M. Feron