Data Agility in Precision MedicineNiall O’Connor

CTO

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DNA

RNA

Protein

SNV/Indel

Copy Number

Expression

Translocation

Regulation

Small Panel

Big Panel

Exome

Genome

Germline

Tumor

Cell-free

Exosome

Specific tissue /

cell type

Single cell

x x x

More

Tests

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Oncology

Rare Disease

Carrier Screening

Pharmacogenomics

Newborn screening

Cardiology

IVF

Neuro/Psychiatric

More PeopleMore

Tests

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More TimepointsMore People

Diagnosis Relapse / Refractory Diagnosis Monitoring Screening Disease Free

More

Tests

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More UsersMore Timepoints

Bioinformaticians Researchers Pathologists Medical

Directors

Point-of-Care MDs Nurses Clinical Trial

Coordinators

Patients

More PeopleMore

Tests

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What “Big Data” in precision medicine looks like

90T

Data points

15M

Encounters

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To accomplish this we need data agility

Challenges:

• Expensive and slow

• Not Portable

• Not Interoperable

• Doesn’t scale for genomics (at

least not easily)

• Not designed for the domain

Old Way

Clinical Users

Non-domain

System

Operators

IBM

Oracle

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Clinical Users

Non-domain

System

Operators

Old WayLacks Data AgilityIBM

Oracle

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The Messy Data Problem of Precision Medicine - A Disease Example

How many patients were treated for

breast cancer, in the past year?

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The Messy Data Problem of Precision Medicine - A Disease Example

How many patients were treated for

breast cancer, in the past year?

MeSH - D001943

Biomedical

Researcher

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How many patients were treated for

breast cancer, in the past year?

Biomedical

Researcher

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How many patients were treated for Malignant tumor of

breast (disorder), in the past year?

SNOWMED - 254837009

Biomedical

Researcher

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How many patients were treated for

breast cancer, in the past year?

Biomedical

Researcher

© 2016 Genospace, LLC14

How many patients were treated for

BREAST CANCER, in the past year?

OMIM - 114480

OMIM - 605365

OMIM - 600048

Biomedical

Researcher

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How many patients were treated for

Malignant neoplasm of breast, in the

past year?

ICD-10 - C50ICD-9 - 147

ICD-9 - 149

Biomedical

Researcher

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How many patients were treated for

Malignant neoplasm of breast, in the

past year?

ICD-10 - C50ICD-9 - 147

ICD-9 - 149

Biomedical

Researcher

© 2016 Genospace, LLC17

A web of knowledge connects healthcare users

Biomedical

Researcher

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A web of knowledge connects healthcare participants

Biomedical

Researcher

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Genospace Model

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Gene

Targeted

Drugs

Clinical

Trials

Prognosis

and Risk

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Datastore agnostic encrypted object

Clinical

FactClinical

Context

Informed

Decisions

Data Agility

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Datastore agnostic encrypted object

Clinical

FactClinical

Context

Better

Outcomes

Data Agility