Public Health Genomics:Public Health Genomics:
future paradigm shift for YHC?future paradigm shift for YHC?
Prof. dr. Frans J.M. FeronProf. dr. Frans J.M. FeronDepartment of Social MedicineDepartment of Social Medicine
Faculty of Health Medicine and Life SciencesFaculty of Health Medicine and Life Sciences
Maastricht UniversityMaastricht University
[email protected]@maastrichtuniversity.nl
FHML - Social Medicine – Prof. dr. F. Feron slide 22
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
• …18.800.000 hits on ‘Genomics’ by Google
• …1.320.000 hits on ‘Public Health Genomics’ by Google
• …798.385 ‘genomic’ hits by PubMed
FHML - Social Medicine – Prof. dr. F. Feron slide 33
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, 2009:378–85.
FHML - Social Medicine – Prof. dr. F. Feron slide 1111
Vanderbilt doing long-term study of child healthDec. 3, 2010, 3:03 a.m. CSTAssociated 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 1212
Vanderbilt doing long-term study of child healthDec. 3, 2010, 3:03 a.m. CSTAssociated 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 screeningAandoening 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
FHML - Social Medicine – Prof. dr. F. Feron slide 14
“Classic” example: newborn screeningAandoening 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
FHML - Social Medicine – Prof. dr. F. Feron slide 1515
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
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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 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
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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!
Thank you for your attentionThank you for your attention
Maastricht, 2011 - Prof. dr. Frans J.M. Feron
