structure 2014 - genomics - where science fiction meets reality - illumina

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)

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Genomics: Where Science Fiction Meets Reality

Francis de SouzaPresident, Illumina @fdesouza