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 20 th century, biology will be to the 21 st ” The Economist, Jun. 2007
Why is NOW the time to implement genomics into the health care system? 2001 2011 2015 Sanger Sequencing Next Generation Sequencing MinION Sequencing
Breakthrough technologies in 2025 McKinsey Global Institute May 2013: Report on Disruptive Technologies that will transform life, business and the global economy
DNA’s Journey 2000 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 Prevention Diagnosis Treatment Prognosis Genomics Genomics for First Nations Prenatal RapidOMICS Biomarkers for COPD pharmacists | Biobank Screening Management 10
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: RapidOmics Researchers: 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 medicine Researcher: 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 first project 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 research Researchers: Julio Montaner and Richard Harrigan In Canada ove r 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) Program Researchers: 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 Populations (BC and beyond) Centre for Clinical Genomics Ethics Privacy “Test” e.g. Economic evaluation Hereditary cancer panel Oncopanel Myeloid Panel
What is the world doing in genomics and precision medicine?
International Initiatives in Genomics and Precision Medicine 20
The 100,000 Genomes Project 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
Genomics core facility Cancer Research UK Cambridge Institute 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
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 data Data Overload – Informatics Big Data
What are pharma companies doing in genomics and precision medicine?
Source: PhRMA - 2013 Biopharmaceutical Research Industry Profile
~ 50% of patients do not respond to prescription drugs 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
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 Capabilities 3. Health information technology tools and infrastructure / Resources 4. Clinical and laboratory infrastructure and capabilities 5. Regulatory guidelines 6. Harmonized ethical consent Patient Adoption 7. Privacy / anti-discrimination policies and legislation 8. Reimbursement guidelines Provider Adoption 9. Healthcare professional capacity, awareness, training and adoption Aggregating, Integrating and Sharing Data 36
Questions?
Recommend
More recommend
