what can a patient’s dna tell health care providers · 2016. 11. 15. · next generation...
TRANSCRIPT
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
9
|
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
20
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
35
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
36
Capabilities / Resources
Patient Adoption
Provider Adoption
Aggregating, Integrating and Sharing Data
Questions?