Download Rare Disease: from diagnostic odyssey to tailored care

Bringing Genomics Home
Your DNA: A Blueprint for Better Health
Genome British Columbia
November 12, 2015 / Victoria, BC
Welcome and overview
Our objective today is to educate and inspire you about the growing role of genomics
in healthcare in BC
•
Dr. Brad Popovich (Genome BC)
•
•
Dr. Clara van Karnebeek (Pediatrician and Biochemical Geneticist at BC Children’s
Hospital)
•
•
Rare Disease: from diagnostic odyssey to tailored care
Dr. Brad Nelson (Director and Distinguished Scientist, Deeley Research Centre)
•
•
Overview of Genome BC and our areas of focus over the next 5 years
The cancer genome through the eyes of the immune system
Dr. Jennifer Gardy (Senior Scientist, BCCDC Communicable Disease Prevention and
Control Services)
•
Better, Faster: How genomics is helping us diagnose and manage infectious disease
Genome British Columbia
• A catalyst for the life sciences cluster on Canada's West Coast
• Our mission is to generate social and economic benefits through genomics
• Cumulative portfolio of over $710M in 254 genomics research projects
and science and technology platforms
• Focusing on sectors of economic importance to BC and Canada:
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Human health
Aquaculture & Fisheries
Forestry
Mining, Energy & Environment
• Agriculture
Why genomics?
What is the impact on medicine?
Genomics: Provides an understanding of a disease
from the inside out
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•
If you understand a disease at the DNA level, you understand the root
cause of the disease
• Contrast this to looking at symptoms
Genetic / genomic information is beneficial for disease
• Diagnosis
• Management
• Therapeutic management
• Family planning
List of examples is rapidly growing
First to ubiquitous
100 Years
40 Years
30 Years
DNA’s Journey
1953
2000
2014
Data Source: National Human Genome Research Institute
http://www.genome.gov/sequencingcosts/
Next Generation Medicine
Genomic Medicine Continuum
Breadth of opportunities and need to focus
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Disease / Condition
Chronic diseases
Infectious diseases
Inherited conditions
Health & wellness
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•
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Health continuum
Health & wellness
Prevention & risk assessment
Diagnosis
Treatment & monitoring
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Benefits
Improved health outcomes
Improved healthcare system efficiency
Economic growth
Scientific discoveries
Near term
feasibility
Focus areas for
clinical application
Long term
feasibility
Strategy for health
research
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Genome BC’s strategy for investment in health
Progression
towards
benefits
Health-related
need
Potential
genomic tool /
technology
Validated
genomic tool /
technology
Health benefits
for BC
Discovery and applied research
Investment
phase
Translational research
Pilot then population level
application
Genome BC
focus areas
Invest in genomic health
research across diseases based
on merit and potential impact
MIND THE GAP
Enable application of genomics
at the level of populations
Cancer, rare diseases, infectious
diseases, pharmacogenomics*
*Pharmacogenomics is the study of how genomic variation influences drug response (can be based on the genome of host / human,
tumour, or infectious agent). Major cross-disease focus is on avoiding adverse events and optimizing dose across many diseases.
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Prime opportunities for genomics in health in British
Columbia (5 years)
1. Diseases with relatively simple genetics
2. Diseases where genomic information can influence healthcare
3. Technically and clinically feasible
Cancer
Rare Diseases / Rare Mutations
Infectious Diseases
Pharmacogenomics
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Our objective today is to educate and inspire you about the growing role of genomics
in healthcare in BC
•
Dr. Brad Popovich (Genome BC)
•
•
Dr. Clara van Karnebeek (Pediatrician and Biochemical Geneticist at BC Children’s
Hospital)
•
•
Rare Disease: from diagnostic odyssey to tailored care
Dr. Brad Nelson (Director and Distinguished Scientist, Deeley Research Centre)
•
•
Overview of Genome BC and our areas of focus over the next 5 years
The cancer genome through the eyes of the immune system
Dr. Jennifer Gardy (Senior Scientist, BCCDC Communicable Disease Prevention and
Control Services)
•
Better, Faster: How genomics is helping us diagnose and manage infectious disease
Insert Clara’s slides
Our objective today is to educate and inspire you about the growing role of genomics
in healthcare in BC
•
Dr. Brad Popovich (Genome BC)
•
•
Dr. Clara van Karnebeek (Pediatrician and Biochemical Geneticist at BC Children’s
Hospital)
•
•
Rare Disease: from diagnostic odyssey to tailored care
Dr. Brad Nelson (Director and Distinguished Scientist, Deeley Research Centre)
•
•
Overview of Genome BC and our areas of focus over the next 5 years
The cancer genome through the eyes of the immune system
Dr. Jennifer Gardy (Senior Scientist, BCCDC Communicable Disease Prevention and
Control Services)
•
Better, Faster: How genomics is helping us diagnose and manage infectious disease
Insert Brad Nelson’s slides
Our objective today is to educate and inspire you about the growing role of genomics
in healthcare in BC
•
Dr. Brad Popovich (Genome BC)
•
•
Dr. Clara van Karnebeek (Pediatrician and Biochemical Geneticist at BC Children’s
Hospital)
•
•
Rare Disease: from diagnostic odyssey to tailored care
Dr. Brad Nelson (Director and Distinguished Scientist, Deeley Research Centre)
•
•
Overview of Genome BC and our areas of focus over the next 5 years
The cancer genome through the eyes of the immune system
Dr. Jennifer Gardy (Senior Scientist, BCCDC Communicable Disease Prevention and
Control Services)
•
Better, Faster: How genomics is helping us diagnose and manage infectious disease
Insert Jenn’s slides