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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: The Human
  Genome Project (HGP)
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 dropped to
   <10k USD

• Sequencing can be done
   within days
…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
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?)
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 clustered together.
      The company reckon that a 20-node
     GridION setup can sequence a complete
       human genome in just 15 minutes.
This changes everything. Again.
What changes?



                      Science*
                      *it works!




Individuals                            Companies


              Government & Civil Society
What changes?



                      Science*
                      *it works!




Individuals                            Companies


              Government & Civil Society
Individuals & Science /Medicine


• Tests for diseases
  • preimplantation/
     prenatal genetic tests

  • newborn screenings
  • individual tests for
     hitherto unknown
     diseases
Individuals & Science /Medicine



•   WGS for preventative
    care

    • finding risk factors
    • counter diseases
       before they can
       develop
Individuals & Science /Medicine


•   Rise in data available for
    scientists

    • finding the genetic base
      of diseases

    • development of new
      treatments/drugs based
      on genetic knowledge
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?
What changes?



                      Science*
                      *it works!




Individuals                            Companies


              Government & Civil Society
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?
Individuals & Companies



•   Obligatory Genetic
    Testing for...

    • ...(Health) Insurance
       companies?

    • ...employers?
Individuals & Companies




•   Personalized advertising...

    • VISA filed a patent on
      this last year...
What changes?



                      Science*
                      *it works!




Individuals                            Companies


              Government & Civil Society
Individuals & Government /
                       Civil Society



•   Genetic Testing for…

    • …online dating?!
    • …finding the perfect
      work-out strategy?!
Individuals & Government /
                       Civil Society



•   and of course: Forensics…

    • What could Law
      Enforcement do with
      WGS data?
This affects all of us!


                      Science*
                      *it works!




Individuals                            Companies


              Government & Civil Society
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!
Thanks for listening.

         contact:
    info@opensnp.org
    @gedankenstuecke

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The Future of Genetics

  • 1. The Future of Genetics
  • 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.
  • 11. What changes? Science* *it works! Individuals Companies Government & Civil Society
  • 12. What changes? Science* *it works! Individuals Companies Government & Civil Society
  • 13. Individuals & Science /Medicine • Tests for diseases • preimplantation/ prenatal genetic tests • newborn screenings • individual tests for hitherto unknown diseases
  • 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?
  • 19. Individuals & Companies • Obligatory Genetic Testing for... • ...(Health) Insurance companies? • ...employers?
  • 20. Individuals & Companies • Personalized advertising... • VISA filed a patent on this last year...
  • 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!
  • 26. Thanks for listening. contact: info@opensnp.org @gedankenstuecke