Tuesday, June 03, 2014

#HDPalooza @susannahFox introduces Dr Francis Collings from #NIH

Big Data and Biomedical research.

The NIH is the world leader in Biomedical research.

  • Genomic data
  • Other ‘omic data
  • Phenotype
  • Imaging
  • Exposure
  • Clinical

The Human Genome project has been a driver of open health data that began in 1990

The first meeting in 1996 set the framework for public release of genomic data.

The HapMap project identified variations n the Genome.

The 1000 Genome project provided a deep catalog of human genetic variation.

The Genomic work has uncovered knowledge in hereditary conditions.

The DNA instruction book is taking the guess work out of diagnosis.

in the past 5 years we have gone from understanding 2 areas in the Genome that were related to Diabetes. This has now grown to 80+ elements that impact Diabetes.

db GaP provides a database of Genotype and Phenotype data that respects the privacy of the individuals participating in the study and their consent for data release.

The cost of sequencing the entire Genome has dropped from $100M in 2001 to less than $10k now and is approaching $1,000 by the end of 2014.

There are drug appearing that recommend checking the patient’s genome before prescribing.

Cancer is a disease of the DNA.

The Global Alliance for Genomics and Health GA4GH is establishing standards for data sharing to support progress in human health.
Enabling genomic data to be shared to tackle health issues.

NCBI has more than 4M users per day accessing genomic data. Downloads are over 35TB per day.

NIH’s Big Data Challenge:
- Creating new leadership position – Associate Director for Data Science – Dr Philiip Bourne
- Create Scientific data council and External Advisory Board
- Invest in SW development and Training
- Creating Centers of Excellence for Big Data Science
- Pushing Big Data to Knowledge – BD2K
- Establish Big Data Commons.

Using cloud-based computing to support big data and scalable analysis.

National Patient Centers Clinical Research Network -PCOR Net – a network of networks

http://pcornet.org – Improve the capacity for comparative research.

Mark Scrimshire
Health & Cloud Technology Consultant

Mark is available for challenging assignments at the intersection of Health and Technology using Big Data, Mobile and Cloud Technologies. If you need help to move, or create, your health applications in the cloud let’s talk.
Blog: http://2.healthca.mp/1b61Q7M
email: mark@ekivemark.com
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Disclosure: I am a Patient Engagement Advisor to Personiform, Inc and their Medyear.com platform, a Consumer-Mediated Health Exchange that puts members in control of their health data and who they want to share that data with.

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