2. Some History...
• 1953: Watson & Crick
discover the structure of
DNA
• 1977: Sanger publishes his
DNA sequencing method
3. Some History
• For years the method of
Sanger stays the standard
(it’s still widely used)
• Famous use of the
technique: The Human
Genome Project (HGP)
4. Some History
• Lessons of the HGP:
• took >10 years to
complete 1(!) genome
• cost of > 3 billion
USD
5. Today
• Large-scale genomic
sequencing is done using
Next Generation
Sequencing (NGS)
• Costs for individual
genomes dropped to
<10k USD
• Sequencing can be done
within days
6. …but…
• NGS allows for
parallelization & produces
fragmented data at a
rapid speed
• Relies on heavy
computation to stitch
fragments back into one
genome
ieces
billi on p
1.8
7. Today
• Computational power
becomes the limiting
factor for analyzing the
data
• Having data ≠ Gaining
Knowledge
“ I can assemble using MetaVelvet
on our server in less than a day
(admittedly it has 512GB of RAM,
but doesn't everyone?)
8. Today
• What do single genes
do?
• Which genes are
responsible for a
disease?
• How does gene
regulation work?
9. The Future?
“ Oxford Nanopore has also introduced
GridION -- a platform where multiple
cartridges can be clustered together.
The company reckon that a 20-node
GridION setup can sequence a complete
human genome in just 15 minutes.
14. Individuals & Science /Medicine
• WGS for preventative
care
• finding risk factors
• counter diseases
before they can
develop
15. Individuals & Science /Medicine
• Rise in data available for
scientists
• finding the genetic base
of diseases
• development of new
treatments/drugs based
on genetic knowledge
16. Individuals & Science /Medicine
• Problems
• Should WGS data be
reused?
• What about sharing data
with other scientists?
• Will participants get their
raw data? Who owns it?
• What about incidental
findings?
17. What changes?
Science*
*it works!
Individuals Companies
Government & Civil Society
18. Individuals & Companies
• Direct-To-Consumer
Genetic Testing goes WGS
• Problems:
• Quality of resulting
analysis by companies?
• Should customers be
allowed to take
commercial tests without
medical supervision?
21. What changes?
Science*
*it works!
Individuals Companies
Government & Civil Society
22. Individuals & Government /
Civil Society
• Genetic Testing for…
• …online dating?!
• …finding the perfect
work-out strategy?!
23. Individuals & Government /
Civil Society
• and of course: Forensics…
• What could Law
Enforcement do with
WGS data?
24. This affects all of us!
Science*
*it works!
Individuals Companies
Government & Civil Society
25. Where does this leave us?
• Human Genetics & Genomics is rapidly
growing field
• It can have an impact on lots of parts of
every day life
• Now is the time to think about how we
want to deal with this!