by Fiona Nielsen Presented for UK Pharmacogenetics and Stratified Medicine Network (UK PGx Network) - Entrepreneurship, Disruptive Innovation and Personalised Medicine University of Liverpool London Campus, Finsbury Square, Wednesday 7th June 2017

1. Investing in innovation for genomic medicine
– the journey of Repositive
Fiona Nielsen, June 7th 2017

2. My story into genomic medicine

3. I was creating data analysis tools for NGS

4. Soon everyone was talking about genomic medicine

5. I was in the Netherlands, while back in Denmark
Image by Fiona Nielsen

6. Living through her treatment taught me:
1) My research was very far
removed from any clinical
application
2) Standard of care had
nothing to do with genomic
medicine
Image by Fiona Nielsen

7. I moved closer to clinical applications
Image by Ospedale Pediatrico https://flic.kr/p/v67jGZ

8. Through my work I learnt:
The bottlenecks for genomic medicine
1) Are NOT in data generation
2) Are all in data interpretation
Image by Ospedale Pediatrico https://flic.kr/p/v67jGZ

9. Why is data interpretation a bottleneck?
Image by Oran Viriyincy https://flic.kr/p/8VxEVt

10. Why is data interpretation a bottleneck?
Human interpretation is required to
interpret the rapidly evolving
knowledge base
Knowledge is not shared fast enough
Knowledge sharing = data sharing
Image by Oran Viriyincy https://flic.kr/p/8VxEVt

11. What is stopping us from achieving our ambitions?
Image by Ken Bosma https://flic.kr/p/51eHYb

12. What is stopping us from achieving our ambitions?
• Use case 1: discovering new genetic
correlations  need raw data
• Use case 2: reviewing and revising
annotated genetic variation  need raw
data
• Use case 3: personalising care
depending on genetic variation  need
genetic data + EMR + treatment +
outcomes
Image by Ken Bosma https://flic.kr/p/51eHYb

13. 1000s of data points are needed for analysis
• Data for comparison and validation
across:
• Specific disease states
• Healthy individuals
• Technologies
• … and across any potential
confounding factors of sample or data
• Finding and accessing data can take
months!
Image by Davide P https://flic.kr/p/oX7277

14. I left my job to address the problem
https://www.flickr.com/photos/blackzack00/10205948476/

15. A well-known bottleneck

16. Data problems increase with the data deluge
Image by NASA https://flic.kr/p/JgXyPS

17. A business proposition for innovation
• A bottleneck in an exploding market
= Genomical market opportunity for enabling data access
• Applying known technology and business models that
have been successful in other industries:
• Online data marketplace + market insights
• Streamlining access to scarce resources
• Freemium community creating network effect
Image by NASA https://flic.kr/p/JgXyPS

18. Challenge – finding investors in innovation
Image by Nebraska Oddfish https://flic.kr/p/dAwZWF

19. Challenge – finding investors in innovation
• Genomic data community marketplace
– sitting between software and biotech
• Series A investors across disciplines
• Hand-picking specialists
Image by Nebraska Oddfish https://flic.kr/p/dAwZWF

20. How can we make innovation happen faster?
Image by Barbara W https://flic.kr/p/fNBmQQ

21. How can we make innovation happen faster?
• Incremental innovation happens within a
discipline
• Disruptive innovation happens across
disciplines
• Identify bottlenecks
• Invest across disciplines
Image by Barbara W https://flic.kr/p/fNBmQQ

22. Thanks
Image by Fiona Nielsen

23. Investing in innovation for genomic medicine
– the journey of Repositive
Fiona Nielsen, June 7th 2017
http://repositive.io and tweet @repositiveio