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 doesnt 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

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?

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...

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

The Future of Genetics

by Bastian Greshake

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