5. 3 billions base pairs (ATGC)
23’000 protein-coding genes
99.9% inter-individual identity (yet 4 millions differences)
99% identical to chimpanzee genome (yet 6% different genes)
The human genome
8. Exploring the human genome
Sanger sequencing,
targeted genotyping
Genome-wide
genotyping (GWAS)
Exome
sequencing
Genome
sequencing
2001 2008
9. We are all different…
4 million DNA variants / individual
Single nucleotide polymorphisms (SNPs)
Small insertions/deletions (indels)
Larger structural variants
• copy number variants (CNVs)
• inversions
• translocations
10.
11.
12. Exploiting human genetic variation
Identification of
relevant genetic variant
Prediction
models
Understanding of
underlying biology
Clinically useful
prediction
Clinically useful
therapies
22. Who needs therapy?
Will therapy be effective?
When to start?
Which drug regimen?
For how long?
Will therapy be tolerated?
The clinical management of patients suffering from chronic
hepatitis C virus infection represents an ideal setting to
demonstrate the relevance of personalized medicine
A. Rauch & J. Fellay
23. Phase 1b trials:
• Comparable efficacy to IFN-a
• Synergistic effect with IFN-a
• Less side effects
- tissue specific receptor expression
Interferon-lambda: a promising HCV drug
24. - It starts here and now
- It raises extremely broad issues
Across many fields: medicine, research, economy,
law, ethics, philosophy…
- It offers many avenues for job opportunities
Development of new industry focused on
nanotechnology, medical IT, digitalization,
biobanking, impact assessment, wellness, etc.
Personalized health
25. By fostering programs of basic & applied research in:
-Genetics, genomics, proteomics, metabolomics
-Integrative (“systems”) biology and medicine
-Bioinformatics / Biomathematics (data analysis)
-Computational biology / modeling / imaging
-Computer sciences (data management /encryption)
-Ethics, law and economics
Personalized health: how to get there?
Research
26. By training trans-disciplinary scientists, engineers and
medical doctors, for instance through the teaching of:
-“Medicine 101” for scientists and engineers
-Quantitative sciences and technology for medical
students
Personalized health: how to get there?
Education
27. Through the creation of funding mechanisms that allow
the creation, maintenance and staffing of state-of-the-art
“technolomics” R&D platforms, needed both for research
in “systems medicine” and for clinical applications.
Through an in-depth reflection on (targeted) biobanking.
Through discussion / collaboration between national
bodies in charge of health care and biomedical research.
Personalized health: how to get there?
Infrastructure
28. By educating the population and keeping it properly
informed about the potential, progress and limitations of
personalized health, allowing for a public debate of all
relevant issues, and the exploitation of social networks
Personalized health: how to get there?
Social framework
30. More than 60 medical, research and advocacy organizations
in 41 countries formed a global alliance to share patients'
genetic and clinical information in an effort to "dramatically
accelerate medical progress" in determining the biological
bases of inherited and infectious diseases, as well as shed
light on the effects of various treatments on different patients.
