1. Bringing Genomics Home Your DNA: A Blueprint for Better Health
Presentation in 3 phases:
1- Context on GBC
2- GBC support for PM
3- the challenges to PM
Genome British Columbia
November 12, 2015 / Victoria, BC

2. 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)
Overview of Genome BC and our areas of focus over the next 5 years
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)
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

3. 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:
Human health
Aquaculture & Fisheries
Forestry
Mining, Energy & Environment
Agriculture

4. Why genomics? What is the impact on medicine?

5. Genomics: Provides an understanding of a disease from the inside out
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

6. First to ubiquitous 100 Years 40 Years 30 Years Airplanes (191 Phones
Computer
DNA
30 Years

7. DNA’s Journey
1953
2000
2014
Data Source: National Human Genome Research Institute

8. A family physician in primary care makes 2500 diagnoses per year, that includes 450 separate diseases, for which they prescribe 800 different medication, out of a total of 20,000 of prescriptions per family doc; 75% of patients over 65 have five or more health problems….. Primary care is really were the rubber hits the road for health care.

9. Next Generation Medicine
The stories presented today are special cases
Cases like this will demonstrate the value of genomics and stimulate alignment around the need for genomics approaches as a standard in selected contexts
We need to move down a disciplined course, conscious of limited resources in the healthcare system
Success will require public engagement and acceptance

10. Genomic Medicine Continuum

11. Breadth of opportunities and need to focus
Disease / Condition
Chronic diseases
Infectious diseases
Inherited conditions
Health & wellness
Near term feasibility
Focus areas for clinical application
Health continuum
Health & wellness
Prevention & risk assessment
Diagnosis
Treatment & monitoring
Long term feasibility
Strategy for health research
Benefits
Improved health outcomes
Improved healthcare system efficiency
Economic growth
Scientific discoveries

12. Genome BC’s strategy for investment in health
Progression towards benefits
Discovery and applied research
Translational research
Pilot then population level application
Health-related need
Potential
genomic tool / technology
Validated genomic tool / technology
Health benefits for BC
Investment phase
A rare disease is defined as one that affects fewer than 200,000 people in the United States or fewer than 1 in 2,000 people in Europe. Although individually rare, collectively these conditions affect millions of children worldwide. Most rare diseases are genetic in origin, and best estimates suggest that there are at least 7,000, and possibly many more, rare genetic diseases.
Genome BC focus areas
Invest in genomic health research across diseases based on merit and potential impact
Enable application of genomics at the level of populations Cancer, rare diseases, infectious diseases, pharmacogenomics*
MIND THE GAP
*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.

13. Rare Diseases / Rare Mutations
Prime opportunities for genomics in health in British Columbia (5 years)
Diseases with relatively simple genetics
Diseases where genomic information can influence healthcare
Technically and clinically feasible
Cancer
Rare Diseases / Rare Mutations
A rare disease is defined as one that affects fewer than 200,000 people in the United States or fewer than 1 in 2,000 people in Europe. Although individually rare, collectively these conditions affect millions of children worldwide. Most rare diseases are genetic in origin, and best estimates suggest that there are at least 7,000, and possibly many more, rare genetic diseases.
Infectious Diseases
Pharmacogenomics

14. Dr. Brad Popovich (Genome BC)
Our objective today is to educate and inspire you about the growing role of genomics in healthcare in BC
Dr. Brad Popovich (Genome BC)
Overview of Genome BC and our areas of focus over the next 5 years
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)
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

15. Insert Clara’s slides

16. Dr. Brad Popovich (Genome BC)
Our objective today is to educate and inspire you about the growing role of genomics in healthcare in BC
Dr. Brad Popovich (Genome BC)
Overview of Genome BC and our areas of focus over the next 5 years
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)
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

17. Insert Brad Nelson’s slides

18. Dr. Brad Popovich (Genome BC)
Our objective today is to educate and inspire you about the growing role of genomics in healthcare in BC
Dr. Brad Popovich (Genome BC)
Overview of Genome BC and our areas of focus over the next 5 years
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)
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

19. Insert Jenn’s slides