The Future of Genetics

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

1.8 billion pieces

“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?

Government & Civil Society

CompaniesIndividuals

Science**it works!

What changes?

Government & Civil Society

CompaniesIndividuals

Science**it works!

• 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 & Science /Medicine

What changes?

Government & Civil Society

CompaniesIndividuals

Science**it works!

• 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 & Companies

What changes?

Government & Civil Society

CompaniesIndividuals

Science**it works!

• 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?

Individuals & Government / Civil Society

This affects all of us!

Government & Civil Society

CompaniesIndividuals

Science**it works!

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