The Future of Genetics
Some History...• 1953: Watson & Crick   discover the structure of   DNA• 1977: Sanger publishes his   DNA sequencing method
Some History• For years the method of  Sanger stays the standard  (it’s still widely used)• Famous use of the  technique: ...
Some History• Lessons of the HGP:  • took >10 years to     complete 1(!) genome  • cost of > 3 billion     USD
Today• Large-scale genomic   sequencing is done using   Next Generation   Sequencing (NGS)• Costs for individual   genomes...
…but…• NGS allows for  parallelization & produces  fragmented data at a  rapid speed• Relies on heavy  computation to stit...
Today• Computational power  becomes the limiting  factor for analyzing the  data• Having data ≠ Gaining  Knowledge        ...
Today• What do single genes  do?• Which genes are  responsible for a  disease?• How does gene  regulation work?
The Future?    “ Oxford Nanopore has also introduced      GridION -- a platform where multiple      cartridges can be clus...
This changes everything. Again.
What changes?                      Science*                      *it works!Individuals                            Companie...
What changes?                      Science*                      *it works!Individuals                            Companie...
Individuals & Science /Medicine• Tests for diseases  • preimplantation/     prenatal genetic tests  • newborn screenings  ...
Individuals & Science /Medicine•   WGS for preventative    care    • finding risk factors    • counter diseases       befor...
Individuals & Science /Medicine•   Rise in data available for    scientists    • finding the genetic base      of diseases ...
Individuals & Science /Medicine•   Problems    • Should WGS data be       reused?    • What about sharing data       with ...
What changes?                      Science*                      *it works!Individuals                            Companie...
Individuals & Companies•   Direct-To-Consumer    Genetic Testing goes WGS• Problems:  • Quality of resulting      analysis...
Individuals & Companies•   Obligatory Genetic    Testing for...    • ...(Health) Insurance       companies?    • ...employ...
Individuals & Companies•   Personalized advertising...    • VISA filed a patent on      this last year...
What changes?                      Science*                      *it works!Individuals                            Companie...
Individuals & Government /                       Civil Society•   Genetic Testing for…    • …online dating?!    • …finding ...
Individuals & Government /                       Civil Society•   and of course: Forensics…    • What could Law      Enfor...
This affects all of us!                      Science*                      *it works!Individuals                          ...
Where does this leave us?• Human Genetics & Genomics is rapidly  growing field• It can have an impact on lots of parts of  ...
Thanks for listening.         contact:    info@opensnp.org    @gedankenstuecke
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The Future of Genetics

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The falk Fabian Zimmer and I gave at the re:publica on 05/03/12

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The Future of Genetics

  1. 1. The Future of Genetics
  2. 2. Some History...• 1953: Watson & Crick discover the structure of DNA• 1977: Sanger publishes his DNA sequencing method
  3. 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. 4. Some History• Lessons of the HGP: • took >10 years to complete 1(!) genome • cost of > 3 billion USD
  5. 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. 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. 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 doesnt everyone?)
  8. 8. Today• What do single genes do?• Which genes are responsible for a disease?• How does gene regulation work?
  9. 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.
  10. 10. This changes everything. Again.
  11. 11. What changes? Science* *it works!Individuals Companies Government & Civil Society
  12. 12. What changes? Science* *it works!Individuals Companies Government & Civil Society
  13. 13. Individuals & Science /Medicine• Tests for diseases • preimplantation/ prenatal genetic tests • newborn screenings • individual tests for hitherto unknown diseases
  14. 14. Individuals & Science /Medicine• WGS for preventative care • finding risk factors • counter diseases before they can develop
  15. 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. 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. 17. What changes? Science* *it works!Individuals Companies Government & Civil Society
  18. 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?
  19. 19. Individuals & Companies• Obligatory Genetic Testing for... • ...(Health) Insurance companies? • ...employers?
  20. 20. Individuals & Companies• Personalized advertising... • VISA filed a patent on this last year...
  21. 21. What changes? Science* *it works!Individuals Companies Government & Civil Society
  22. 22. Individuals & Government / Civil Society• Genetic Testing for… • …online dating?! • …finding the perfect work-out strategy?!
  23. 23. Individuals & Government / Civil Society• and of course: Forensics… • What could Law Enforcement do with WGS data?
  24. 24. This affects all of us! Science* *it works!Individuals Companies Government & Civil Society
  25. 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!
  26. 26. Thanks for listening. contact: info@opensnp.org @gedankenstuecke
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