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Genomics for the public is coming
- Are you ready or not?
October 11th 2017
Fiona Nielsen, CEO
The cost of sequencing is falling dramatically
http://genome.gov/sequencingcostsdata/
The data output is growing exponentially
Big	data:	Astronomical	or	Genomical?	http://journals.plos.org/plosbiology/article?id=10.1371/journal.pbio.1002195
The wave of genomics
First adapters: the research community
Copyrighted	image.	License:	https://lobster.media/content/instagram-1246430452183406136_369506988
Exponential growth in research community resources
Nucleic	Acids	Res.	2016	Jan	4;	44(Database	issue):	D20–D26.
Published	online	2015	Dec	15. doi: 10.1093/nar/gkv1352 PMCID: PMC4702932
But there are new players joining the party
Copyrighted	image.	License:	https://lobster.media/content/flickr-8755497282
• 23andme
• Ancestry.com
• Veritas Genetics
• Human Longevity
• Full Genomes
• Helix
• Sure Genomics
• Mapmygenome
• Quest Diagnostics
• …
The uprising of DTC genetic testing
Genotyping,
Ancestry
Whole	Genome
Exome	sequencing
Diagnostic	tests
• Patients like me
• Patients Know Best
• DNAcoin, Genecoin, Encrypgen, …
• GenePlaza.com
• MadeOfGenes.com
• Genos.co
• DNAsimple.org
• Heterogeneous.co.uk
• DNAtestingchoice.com
• …
The uprising of patient-controlled data
Origin	from	patient												info	and	support	
initiatives																													EMRs
Join	a	community	and	share	your	data
for	research
Blockchain ledgers	for	data	sharing
All	the	DTC	tests	you	can	dream	of!
How do we translate to opportunities for public health?
• Will be interested in genomic aspects of their health
• And may bring their own data to the clinic
Accommodate for the patient of the future
• Does it require a whole country to take initiative?
• E.g. Genomics England - Creating a genomic medicine service
for the NHS – focus on cancer and rare disease
• More than £300M investment for the first three years
When will public health genomics become reality?
• Where will we first see the next population-wide initiatives?
Who will see the first benefits of genomic medicine?
The wave of genomics is coming
Copyrighted	image.	License:	https://lobster.media/content/instagram-1223433111721678443_369506988
Are you ready or not?
Copyrighted	image.	License:	https://lobster.media/content/instagram-1369710073287224473_212371580
Fiona Nielsen, CEO – fiona@repositive.io
Future Business Centre, Kings Hedges Road, CB4 2HY Cambridge

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Genomics for the public is coming - are you ready or not?

  • 1. Genomics for the public is coming - Are you ready or not? October 11th 2017 Fiona Nielsen, CEO
  • 2. The cost of sequencing is falling dramatically http://genome.gov/sequencingcostsdata/
  • 3. The data output is growing exponentially Big data: Astronomical or Genomical? http://journals.plos.org/plosbiology/article?id=10.1371/journal.pbio.1002195
  • 4. The wave of genomics
  • 5. First adapters: the research community Copyrighted image. License: https://lobster.media/content/instagram-1246430452183406136_369506988
  • 6. Exponential growth in research community resources Nucleic Acids Res. 2016 Jan 4; 44(Database issue): D20–D26. Published online 2015 Dec 15. doi: 10.1093/nar/gkv1352 PMCID: PMC4702932
  • 7. But there are new players joining the party Copyrighted image. License: https://lobster.media/content/flickr-8755497282
  • 8. • 23andme • Ancestry.com • Veritas Genetics • Human Longevity • Full Genomes • Helix • Sure Genomics • Mapmygenome • Quest Diagnostics • … The uprising of DTC genetic testing Genotyping, Ancestry Whole Genome Exome sequencing Diagnostic tests
  • 9. • Patients like me • Patients Know Best • DNAcoin, Genecoin, Encrypgen, … • GenePlaza.com • MadeOfGenes.com • Genos.co • DNAsimple.org • Heterogeneous.co.uk • DNAtestingchoice.com • … The uprising of patient-controlled data Origin from patient info and support initiatives EMRs Join a community and share your data for research Blockchain ledgers for data sharing All the DTC tests you can dream of!
  • 10. How do we translate to opportunities for public health?
  • 11. • Will be interested in genomic aspects of their health • And may bring their own data to the clinic Accommodate for the patient of the future
  • 12. • Does it require a whole country to take initiative? • E.g. Genomics England - Creating a genomic medicine service for the NHS – focus on cancer and rare disease • More than £300M investment for the first three years When will public health genomics become reality?
  • 13. • Where will we first see the next population-wide initiatives? Who will see the first benefits of genomic medicine?
  • 14. The wave of genomics is coming Copyrighted image. License: https://lobster.media/content/instagram-1223433111721678443_369506988
  • 15. Are you ready or not? Copyrighted image. License: https://lobster.media/content/instagram-1369710073287224473_212371580
  • 16. Fiona Nielsen, CEO – fiona@repositive.io Future Business Centre, Kings Hedges Road, CB4 2HY Cambridge