What can a patients DNA tell health care providers Dr. Catalina - - PowerPoint PPT Presentation

what can a patient s dna tell health care providers
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What can a patients DNA tell health care providers Dr. Catalina - - PowerPoint PPT Presentation

What can a patients DNA tell health care providers Dr. Catalina Lopez-Correa CSO & VP Sector Development at Genome British Columbia Presidents Speakers Series Alberta Health Services (AHS) November 21st, 2016 Why Genomics? What


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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

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Why Genomics?

“What physics was to the 20th century, biology will be to the 21st”

The Economist, Jun. 2007

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2001 2011 2015

Sanger Sequencing Next Generation Sequencing MinION Sequencing

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

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

Breakthrough technologies in 2025

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2000

DNA’s Journey

2015

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Next Generation Medicine

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A wave of change…

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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
  • r 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

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Prevention Prognosis Treatment Diagnosis

Genomics

First Nations Biobank RapidOMICS Genomics for pharmacists Biomarkers for COPD Management Prenatal Screening

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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.

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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

  • f different tests, improving outcomes and

saving the system money

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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

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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

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Leading the world in HIV/AIDS research

Researchers: 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

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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

  • ptions to target those mutations,

increase efficacy and reduce overall cost

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Personalizing Cancer Treatment

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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)

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What is the world doing in genomics and precision medicine?

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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

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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

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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

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Her Highness Sheikha Moza bint Nasser announced the Qatar Genome Project at the World Innovation Summit on Health (WISH) in Doha in December 2013

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

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“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

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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

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What are pharma companies doing in genomics and precision medicine?

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Source: PhRMA - 2013 Biopharmaceutical Research Industry Profile

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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

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MITSloan Management, March 2008

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‘Here is my sequence…’

New Yorker

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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

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Questions?