Genetic epidemiology (GE)
Claire Infante-Rivard MD, PhD
Professor
Claire.infante-rivard@mcgill.ca
1. Applications
• My initial plan
• Instead: A story to convince you that GE
can “change daily life” (or at least have an
impact on your perception of it)
– From Hauser SL, Johnston SC (Editors). Message from the
Editor. Journeys in complex genetics: Music and Mental Illness.
Ann Neurol 2009;66(1):A7-A9
Music, mental illness and genes
End of story!
• I rest my case about the “applications” of GE
• All common complex diseases (cancer, autism, asthma,
infectious diseases), and conditions (fitness, attention deficit
disorder, ability to metabolize drugs, taking up smoking, etc.) have
a genetic susceptibility component.
• It can no longer be ignored in our studies
• Can we intervene on the effects of common
gene variants? Probably not often yet but
certainly not impossible (but we are still uncertain about
how to change smoking behaviour, the effects of which have been
know for 50 years)
2. What does this research entail?
Similarities with epi
• The science is the same as with any other
epidemiological study (research Q)
• The most frequently used design in GE is the
case-control study (familiar territory)
• De novo and database studies are possible (with
the latter growing but there are issues)
• Methods: design and analysis are fundamentally
the same
2. What does this research entail?
Some differences with epi
– Vocabulary is a hurdle! (papers have lexicons)
– A DNA sample is needed (easy methods; can
be collected at any time; sample handling
issues; ethical issues)
– Sample size is always an issue but here more
than anywhere else (Gene-environment interaction)
– Costs are impressive: (0.10c/SNP*1000SNP*3000s)
– Often more biologically oriented
2. What does this research entail?
• Research team: highly multidisciplinary
(epi, stats, mol biol, genomics, bioinformatics,
biochemistry, population genetics, clinical, etc.)
• Results: published in all journals, including
our own, which are eager to publish GE
studies
3. Funding
• Usual funding agencies are very open to
this type of research
– They now accept to fund pooled studies,
which often implies national funding for
national data and then international funding
for pooling
• Pathway studies are more accessible for
regular funding than genome-wide
association studies (GWAS)
4. Career opportunities
• Academia
• Industry
• Counselling at government level
Opportunities at McGill
• GE training program (Trainee Funding) d
• There is a large network of GE-involved
investigators who have databases
(appropriate for M. Sc and PhD theses)
• Do not hesitate to ask for more information