structure 2014 - genomics - where science fiction meets reality - illumina
DESCRIPTION
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/TRANSCRIPT
Francis deSouzaIllumina
GENOMICS: WHERE SCIENCE FICTION MEETS REALITY
Genomics: Where Science Fiction Meets Reality
Francis de SouzaPresident, Illumina @fdesouza
Genetic Code:‣Defines your traits & uniqueness‣Carries the blueprints that run the body and its functions‣Can change or be modified by environment
Reproductive Health
Pregnancy Newborn Screening Inherited DiseaseFamily Planning Carrier Screening, IVF/Pre-implantation
screening
Cancer
TheragnosticsTargeted treatment mix
PredispositionRisk
Early DetectionBefore the tumor
MonitoringTreatment effectiveness
& recurrence
The Sequencing Pipeline
Source: U.S. National Human Genome Research Institute, Nature
The Data Challenges
‣ Lots of Data ‣ Unstructured‣ Across silos‣ It all needs to be secure…
Unstructured Data
OBSERVATION TEST GENOMICASSAY
IMAGE
SYNTHESIS
COMPLEXITY
Anonymity
Informed Consent
SECURITY
Patient Identifiers
HIPAA
PRIVACY
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
0 10
0 10
Genomics: Where Science Fiction Meets Reality
Francis de SouzaPresident, Illumina @fdesouza