What can a patient’s DNA tell health care providers

Dr. Catalina Lopez-Correa

CSO & VP Sector Development at Genome British Columbia

President’s Speakers Series

Alberta Health Services (AHS)

November 21st, 2016

Why Genomics?

“What physics was to the 20th century, biology will be to the 21st”The Economist, Jun. 2007

2001 2011 2015

Sanger Sequencing Next Generation Sequencing MinION Sequencing

Why is NOW the time to implement genomics into the health care system?

McKinsey Global Institute May 2013: Report on Disruptive Technologies that will transform life, business and the global economy

Breakthrough

technologies

in 2025

2000

DNA’s Journey

2015

Next Generation Medicine

A wave of change…

Canada’s Genomics Enterprise

• 6 regional Genome Centres

• 10 Genomic Innovation

Network Nodes

• 210+ large-scale research

projects/initiatives funded

across all life science sectors

• 45 HQP on average,

per project

• 58+ companies created

or enhanced

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|

GENOME BRITISH COLUMBIA

PRECISION MEDICINE PROJECTS

Cumulative investment in 145 projects • 53 Active

Total $352.5M: GBC $69.3M with Co-investment $283.2M

10

Prevention PrognosisTreatmentDiagnosis

Genomics

First Nations

Biobank

RapidOMICS Genomics for

pharmacistsBiomarkers for COPD

Management

Prenatal

Screening

Non-invasive prenatal testing (NIPT)Researchers: Francois Rousseau, Sylvie Langlois

Safer prenatal screening solution (each year 10,000 amniocentesis cause the loss of 70 healthy fetuses). NIPT is revolutionizing prenatal care.

New genomic technologies allow the detection fetal genetic abnormalities in maternal blood.

Equip decision makers, pregnant women and their partner to make informed choices pertaining to prenatal genetic screening and diagnosis.

High demand from the public for test coverage of NIPT – health care decision-makers will use project results to decide on coverage policies.

From years to days: RapidOmicsResearchers: Jan Christilaw, Jan Friedman, Alison Elliot and Horacio Osiovich

Genetic disorders are a leading cause of infant mortality and make up a large percentage of the patients in BC NICU’s

An accurate and rapid diagnosis can guide treatment decisions but this is currently a significant challenge

RapidOmics: pilot study exome sequencing 25 trios (baby + parents) provide results in 5-7 days

This proof-of-concept could replace hundreds of different tests, improving outcomes and saving the system money

BC pharmacists leading precision medicineResearcher: Corey Nislow

Approximately 50% of all emergency department visits each year are due to adverse reactions to medications in adults aged 50 and over

Across BC, 33 community pharmacies have taken part in North America’s firstproject to implement pharmacogenomics

Extract DNA from Saliva, sequence DNA and prescribe

the right drug to the right patient at the right time

and right dose

Combatting “lung attacks”

• Blood test that will identify patients at high risk for Chronic Obstructive Pulmonary Disease (COPD).

• Marker panel is in development; refining selected markers.

• Test will improve treatment, lead to patients with fewer attacks and reduced hospitalization and emergency visits.

The project is led by Dr. Don Sin, St. Paul’s Hospital, University of British Columbia

Leading the world in HIV/AIDS researchResearchers: Julio Montaner and Richard Harrigan

In Canada over 70,000 people are infected with HIV and nearly $1 billion is spent on HIV drug cocktail therapies each year

The BC Centre for Excellence is HIV/AIDS is leading the world to reduce HIV/AIDS global burden

by 90 % in 2030

Genome BC is supporting the BCCfE in developing an HIV drug-resistance test, real-time drug resistance surveillance and better methods for personalizing treatment of HIV based on each patient’s unique DNA

The Personalized Onco-Genomics (POG) ProgramResearchers: Janessa Laskin and Marco Marra

This BC Cancer Agency project looks at the specific mutations that cause cancer.

350 patients have received personalized treatment, based on their DNA

representing 50 different cancer types.

The next phase: More patients, more cancers

Doctors can then customize treatment

options to target those mutations,

increase efficacy and reduce overall cost

Personalizing Cancer Treatment

17

Path to the clinic

Centre for

Clinical Genomics

“Test” e.g.

Hereditary cancer panel

Oncopanel

Myeloid Panel

Ethics

Privacy

Economic evaluation

Populations

(BC and beyond)

What is the world doing in genomics and precision medicine?

International Initiatives in Genomics and Precision Medicine

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The project will sequence 100,000 genomes from around 70,000 people.

Participants are NHS patients with a rare disease, plus their families, and

patients with cancer.

The aim is to create a new genomic medicine service for the NHS –

transforming the way people are cared for

The 100,000 Genomes Project

This new plan will mean we are the first country in the world to use DNA codes in

the mainstream of the health service. If we get this right, we could transform

how we diagnose and treat our most complex diseases not only here but across the

world, while enabling our best scientists to discover the next wonder drug or

breakthrough technology

Primer Minster David Cameron

December 10, 2012

Genomics core facility

Cancer Research UK Cambridge Institute

A very long

SAGA…

The CEO of an Icelandic gene-

hunting company says he is able to

identify everyone from that country

who has a deadly cancer risk, but

has been unable to warn people of

the danger because of ethics rules

governing DNA research

MIT Technology Review, 2015

Her Highness Sheikha Moza bint Nasser announced the Qatar Genome Project

at the World Innovation Summit on Health (WISH) in Doha in December 2013

President Obama’s State of the Union Address: January 20, 2015

“And that’s why the budget I send this Congress on Monday will include a

new Precision Medicine Initiative that brings America closer to curing

diseases like cancer and diabetes, and gives all of us access, potentially,

to the personalized information that we need to keep ourselves and our

families healthier.”

President Barack Obama

January 30, 2015

The Global Alliance was formed to help

accelerate the potential of genomic

medicine to advance human health.

Brings together over 400 leading

institutions working in healthcare,

research, disease advocacy, life science,

and information technology.

Framework of harmonized approaches to enable the responsible, voluntary, and secure sharing of genomic and clinical dataData Overload – Informatics

Big Data

What are pharma companies doing ingenomics and precision medicine?

Source: PhRMA - 2013 Biopharmaceutical Research Industry Profile

Source : « Time for one-person trials »,

Nature | Comment, 29 April 2015,

http://www.nature.com/news/personalized-

medicine-time-for-one-person-trials-1.17411

~ 50% of patients do

not respond to

prescription drugs

MITSloan Management, March 2008

‘Here is my sequence…’ New Yorker

Implementation Barriers

1. Lack of coordination and centralization

2. Need to stablish an official mechanism of Genomic Data Sharing (GDS)

3. Bioinformatics focusing mostly on research instead of data interpretation and data integration into the clinic

4. Limited number of Genetic Counselors & Bioinformatics (interpretation)

5. Several EHR systems are being used (work in isolation and implementation varies greatly between regions)

6. Lack of unique/harmonized system to evaluate new technologies (NICE, FDA)

7. Education of health care providers

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Requirements for success

1. Scientific understanding and technical capabilities

2. Alignment and prioritization

3. Health information technology tools and infrastructure

4. Clinical and laboratory infrastructure and capabilities

5. Regulatory guidelines

6. Harmonized ethical consent

7. Privacy / anti-discrimination policies and legislation

8. Reimbursement guidelines

9. Healthcare professional capacity, awareness, training and adoption

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Capabilities / Resources

Patient Adoption

Provider Adoption

Aggregating, Integrating and Sharing Data

Questions?