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@maastrichtuniversity.nl
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
2
slide 2
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
3
slide 3
The Health Field Concept
Marc Lalonde, 1974
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
Bio-ecological transactional model
FHML - Social Medicine –
Prof. dr. F. Feron
slide 6
Bio-ecological transactional model
FHML - Social Medicine –
Prof. dr. F. Feron
slide 7
Biopsychosocial model
Ref: Brunner & Marmot, 2006
FHML - Social Medicine –
Prof. dr. F. Feron
8
slide 8
Biopsychosocial model
Ref: Brunner & Marmot, 2006
FHML - Social Medicine –
Prof. dr. F. Feron
9
slide 9
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 10
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
11
slide 11
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
12
slide 12
“Classic” example: newborn screening
Aandoening
Per jaar (NL)
Adrenogenitaal Syndroom (AGS)
Biotinidase deficiëntie (BIO)
15-20
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)
3-methylcrotonyl-CoAcarboxylase deficiëntie (3-MCC)
Multiple CoA carboxylase deficiëntie (MCD)
15-17
(?)
?
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
FHML - Social Medicine –
240-320
Prof. dr. F. Feron
slide 13
“Classic” example: newborn screening
Aandoening
Per jaar (NL)
Adrenogenitaal Syndroom (AGS)
Biotinidase deficiëntie (BIO)
15-20
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)
3-methylcrotonyl-CoAcarboxylase deficiëntie (3-MCC)
Multiple CoA carboxylase deficiëntie (MCD)
15-17
(?)
?
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
FHML - Social Medicine –
240-320
Prof. dr. F. Feron
slide 14
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
FHML - Social Medicine –
Prof. dr. F. Feron
15
slide 15
ADHD: genetic contribution
is a “fact in the bag”
Evidence-based genetic association with ADHD:







DRD4
DRD5
DAT
DBH
5-HTT
HTR1B
SNAP-25
-
dopamine D4 receptor
dopamine D5 receptor
dopamine transporter gen
dopamine β-hydroxylase
serotonin transporter gen
serotonin receptor gen
synaptosomal-associated protein 25
Faraone et al, Biol Psychiatry, 2005;57:1313
FHML - Social Medicine –
Prof. dr. F. Feron
16
slide 16
Example: schisis
FHML - Social Medicine –
Prof. dr. F. Feron
slide 17
Example: early life stress
FHML - Social Medicine –
Prof. dr. F. Feron
slide 18
Example: Child maltreatment
Ref:
Nature Neuroscience 2009, vol. 12 no. 8
FHML - Social Medicine –
Prof. dr. F. Feron
slide 19
Paradigm shift:
FHML - Social Medicine –
Prof. dr. F. Feron
slide 20
FHML - Social Medicine –
Prof. dr. F. Feron
slide 21
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
22
slide 22
On behalf of all children…
…I wish you lots of
(genomics-)inspiration
for the future!
FHML - Social Medicine –
Prof. dr. F. Feron
slide 23
Thank you for your attention
Maastricht, 2011 - Prof. dr. Frans J.M. Feron