© American Association for Cancer Research

Rodrigo Dienstmann

Oncology Data Science GroupVHIO, Barcelona, Spain

- Personal financial interests:

Advisory role: Roche, NovartisSpeaker’s fee: Roche, Symphogen, Ipsen, Amgen, SanofiDirect research fund: Merck

- Institutional financial interests:

Clinical trial support: Agendia, Amgen, Debiopharm, Janssen-Cilag, Merck, MSD,

Novartis, Pharma Mar, Roche, Sanofi, Servier, Symphogen.

Disclosure slide

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Why GENIE?

More Data = More Discoveries

Data sharing

Technical, Methodological, Ethical, Legal and Cultural frame

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Paradigm shift

Patient

Molecular DataGenome

SequencePhenotypic Data

Clinical Data

PublicationsData Analysis

Reanalysis of the available datafor other studies

Understandinggenomic and molecular basis of diseases

New Results disease biomarkers

Databases/RepositoriesResearch and Healthcare

centers

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GENIE – Overview

§ International pancancer registry built through data sharing• Driven by openness, transparency, and inclusion

§ GOAL: improve clinical decision making• Linking clinical genotype to clinical outcomes

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§ Eight founding participants, now 19• North America & Europe• Plans for future expansion

§ Sponsored research§ Collaborative projects

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Expanded Participants

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Institution-onlyaccess

6 months

Consortium-onlyaccess

6 months

● Data mapped to common ontology and harmonized

● Limited PHI removed● Data governance,

provenance, and versioning in a secure, HIPAA-compliant environment.

clinical queries are posed based on registry content

clinical data required to answer the question are manually abstracted

regular data uploads

genomic and clinical data linked

Consortium/sponsor-only access6 months to time of publication

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Clinical Sequencing

How the registry operates

www.aacr.org/genie/data

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Continued Progress

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Public releases

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§ Publications

• Landscape paper published in

Cancer Discovery Jun, 2017

- More than 60 citations in Oct 2018

• Review published in JCO Clinical Cancer Informatics Feb, 2018

- Most read article in July 2018,

according to publisher.

• More than 20 publications using

GENIE data as control/reference

cohort since 2017

§ Data Usage

• >5,000 individuals have requested

access to the data via cBioPortal.

• There have been six requests for

data redistribution approved; one

pending.

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Define Virtual Cohorts of Interest

Cancer Type Gene(s) of interest

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GENIE Today

PHENOMICSü Tumor typeü Histologyü Demographicsü Vital status

GENOMICSüSomatic Tumor DNA

60,000 Tumors 19 Cancer Centers

Data made publicly available 12 months after date of sequencing

PHENOMICSTumor typeHistologyDemographicsVital statusDetailed ClinicopathologyPrior TxOutcomes

Specific CohortsVariable # of Centers

Data made public at time of publication

Sponsored Research

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Case Study – Objectives

§ Multi-center, retrospective, case controlled study describing the outcome of metastatic breast cancer patients with ERBB2 mut vs. wild type (wt).

§ Primary Endpoint: • Overall Survival (OS) from date of metastatic diagnosis

§ Secondary Endpoints:• Overall response rate (ORR) for each line of therapy after metastatic diagnosis. • Frequency and clinical impact of coexisting mutations.

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Case Study – Background

ERBB2 mut are very rare across cancer types ERBB2 mut breast cancer patients respond to ERBB2 inhibitors

Hyman et al, Nature 2017www.cbioportal.org/genie

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GENIE of Tomorrow

PHENOMICSü Tumor typeü Histologyü Demographicsü Vital status§ Medications§ Treatment Outcomes

OMICSüSomatic Tumor DNA§Germline DNA§cfDNA§RNA Seq§Epigenetics§Digital pathology

100,000+ Tumors 19+ Cancer Centers

Data to Drive Discoveries

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Many European “GENIE-like” initiatives ongoing

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Inspirational (and “down-to-earth”) leadership

Charles Sawyers, AACR GENIE

Data sharing (value-driven perspective):

- Honors the nature of medical research as a public good

- Moral obligation to society

In practice... we must guarantee that researchers are rewarded by sharing!

AND institutions get the deserved visibility!

AND Pharma companies feel engaged.