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Structure 2014 - Genomics - where science fiction meets reality - Illumina

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Presentation from Gigaom's Structure 2014 conference, June 21-22 in San Francisco
Genomics - where science fiction meets reality
Francis deSouza, President, Illumina
#gigaomlive
More at http://events.gigaom.com/structure-2014/

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Structure 2014 - Genomics - where science fiction meets reality - Illumina

  1. 1. GENOMICS: WHERE SCIENCE FICTION MEETS REALITY Francis deSouza Illumina
  2. 2. Genomics: Where Science Fiction Meets Reality Francis de Souza President, Illumina @fdesouza
  3. 3. Genetic Code: ‣ Defines your traits & uniqueness ‣ Carries the blueprints that run the body and its functions ‣ Can change or be modified by environment
  4. 4. Reproductive Health Family Planning Pregnancy Newborn Screening Inherited Disease Carrier Screening, IVF/Pre-implantation screening
  5. 5. Cancer Theragnostics Targeted treatment mix Predisposition Risk Early Detection Before the tumor Monitoring Treatment effectiveness & recurrence
  6. 6. The Sequencing Pipeline
  7. 7. Source: U.S. National Human Genome Research Institute, Nature
  8. 8. The Data Challenges ‣ Lots of Data ‣ Unstructured ‣ Across silos ‣ It all needs to be secure…
  9. 9. Unstructured Data OBSERVATION TEST GENOMIC ASSAY IMAGE SYNTHESIS COMPLEXITY
  10. 10. Anonymity SECURITY Informed Consent Patient Identifiers PRIVACY HIPAA
  11. 11. 1.Sequencing begins to directly save lives 2.Tumor samples routinely sequenced/Standard of Care 3.Nations begin sequencing their populations 4.Sequences accessible in electronic medical record 5.Infants routinely sequenced at birth 6.Cancer managed as chronic disease Time Frame (years) 0 10 0 10 0 10 0 10 0 10 0 10
  12. 12. Genomics: Where Science Fiction Meets Reality 17 Francis de Souza President, Illumina @fdesouza

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