Webinar July 9, 2013 12 Noon The Essentials of Diagnostics: Introduction to Molecular Diagnostics 1
DxInsights mission is to educate healthcare stakeholders on the power and value of diagnostics and their impact on improving patient outcomes and reducing costs 2
DxInsights is an industry-wide educational organization connecting stakeholders to the best diagnostic resources and to each other. Web-based Resource Center Educational Events Medical School Curriculum Original Research and Collaboration 3
AdvaMedDx is a diagnostics association within an association at AdvaMed, representing about 70 global diagnostics manufacturers. Vision Government Affairs Technology & Regulation Global AdvaMedDx will be a world leader in advocating for the power of medical diagnostics to promote wellness, improve patient outcomes and advance public health. Goals Medical Technology Learning Institute Payment Create an understanding of the value of medical diagnostic tests. Be a valued contributor to diagnostics and health care policy. Legal Public Affairs Ensure timely patient access to safe and effective diagnostic tests. Modernize payment systems for diagnostic tests.
Advocacy & Public Affairs Form and strengthen stakeholder alliances. Develop policy and educational content; establish communications channels. Create a core group of policy makers who understand diagnostics and key policy needs. Expand global collaboration. AdvaMedDx.org
DxInsights and AdvaMedDx Present: The Essentials of Diagnostics: Introduction to Molecular Diagnostics 6
Introduction Diagnostic tests are the foundation of a successful health care system, providing critical information that healthcare providers and patients need to make the right medical decisions. Molecular diagnostics is a dynamic and transformative area of diagnostics, leading to insights in research and treatment in many disease states that are revolutionizing health care. This report provides: An overview of the current landscape for molecular diagnostics Explains the key technologies that are driving the molecular revolution Illustrates the power of molecular diagnostics with some specific examples Notes some challenges that have the potential to influence progress in the future. 7
Molecular In The News Continued clinical breakthroughs using molecular technologies Long-Term Reduction in Peripheral Blood HIV Type 1 Reservoirs Following Reduced-Intensity Conditioning Allogeneic Stem Cell Transplantation Long awaited legal decisions announced Supreme Court Rule Isolated Human Genes Cannot Be Patented Deals in molecular continue Thermo Fisher Scientific Acquires Life Technologies in $13.6B Deal Companion dx gets more interesting Pfizer, Collaborators Developing NanoString ALK Test as Lower- Cost Alternative to FISH, IHC Celebrities Weigh In My Medical Choice: A New York Times Op-Ed by Angelina Jolie 8
What Is Molecular Diagnostics? Molecular diagnostics examine the molecules in the cell, i.e. the proteins, the RNA and DNA and how they are operating within the system that we call human biology. Cancer Cells DNA Tissue RNA Pathogen Protein Source: DxInsights/AdvaMedDx 9
Molecular and the Global IVD Market Molecular is a portion of the total global in vitro diagnostics market. Global In Vitro Diagnostics Market Molecular The global IVD market was $45.6B in 2012. Total IVD market expected to grow at about 7% Molecular market expected to grow at about 12% Growth fueled by infectious disease and oncology testing, and markets in new geographies Rest of IVD Source: Frost and Sullivan. 10
Molecular Technology Evolution With its start as a classic life science tool, polymerase chain reaction (PCR) licenses and products topped a billion dollars in the 2000s, and the transition to the core lab is just beginning. PCR Climb To Adoption 1985 Kary Mullis invents PCR 1991 Roche acquires PCR from Cetus $0 clinical revenue 1998 First PCR-based tests for HIV viral loads available in labs 2007+ <$1B clinical revenue from licenses and products 2011+ High-volume infectious disease tests on automated PCR-based platforms begin to enter core lab 1980s 1990s 2000s 2010s Note: Adapted from Health Advances AACC presentation 2011 Source: Washington G2 reports, Health Advances analysis, Roche company data. Source: DxInsights/AdvaMedDx 11
Molecular Technology Example The Polymerase Chain Reaction (PCR) is one of many techniques used to isolate and amplify a specific segment of DNA. Amplification Cycles 1 2 3 Purified DNA Source: DxInsights/AdvaMedDx Primers choose DNA segment of interest, PCR amplifies sample in cycles 12
Classic Molecular Diagnostics A person with cystic fibrosis has a deletion of three nucleotides in their genetic sequence, which results in the deletion of an amino acid. This manifests in the classic CF symptoms. Genetic Comparison in Cystic Fibrosis Normal Person CFTR Sequence Nucleotide: Amino acid: ATC ATC TTT GGT GTT Ile Ile Phe Gly Val 506 508 510 Deleted in ΔF508 Person with Cystic Fibrosis ΔF508 CFTR Sequence Nucleotide: Amino acid: ATC ATT GGT GTT Ile Ile Gly Val 506 Source: DxInsights/AdvaMedDx 13
Comprehensive Role of Diagnostics Diagnostics can help clinicians optimally manage patients through the continuum of care. Risk Assessment Screening Diagnosis Staging and Prognosis Therapy Selection Monitoring Description Diagnostic tests to complement traditional risk factors Applied to high-risk patients to identify disease early Used for definitive diagnosis and general typing Assess severity and/or risk of recurrence Inform adjuvant therapy decision Used to predict efficacy or safety response to specific treatments Recurrence monitoring Monitoring for treatment efficacy Clinical Implications Implement wellness programs proactively Nip disease in the bud with early treatment Refer to the appropriate specialist Determine whether treatment is necessary Do not waste unproductive therapy Control disease progression with changes in treatment Source: DxInsights/AdvaMedDx 14
Molecular Diagnostic Examples There are hundreds of examples of molecular diagnostics across this continuum. Risk Assessment Screening Diagnosis Staging and Prognosis Therapy Selection Monitoring Description Diagnostic tests to complement traditional risk factors Applied to high-risk patients to identify disease early Used for definitive diagnosis and general typing Assess severity and/or risk of recurrence Inform adjuvant treatment decision Used to predict efficacy or safety response to specific treatments Recurrence monitoring Monitoring for treatment efficacy Molecular Diagnostic Example CF carrier testing BRCA1 testing MRSA HPV TB CT/NG OncoType Dx MammaPrint BRAF KRAS Her2 BCR-ABL HIV viral load Source: DxInsights/AdvaMedDx 15
Example Companies in Molecular Diagnostics Companies playing in the molecular diagnostics space are varied; and collaboration and M&A is vibrant. Note: Example companies only Source: DxInsights/AdvaMedDx 16
The Future Of Molecular Diagnostics Excitement about the future of this field must be tempered by recognition of the challenges of continuing innovation and timely patient access. Clinical Evidence What is the minimal clinical evidence needed for adoption and what investment is required? Regulatory How do regulatory bodies stay current and develop rules that makes sense for all stakeholders? IP What can we patent and what can we not? IT How do we capture, store and analyze the tremendous amount of diagnostic data? Reimbursement When will our evolving reimbursement system stop evolving? Ethical Considerations How do we address the ethical and privacy issues around some of this diagnostic data? Source: DxInsights/AdvaMedDx 17
Read The Report The Essentials of Diagnostics: Introduction to Molecular Diagnostics 18
Q&A and For More Information www.dxinsights.org Kristin Pothier Partner, Health Advances; Founder, DxInsights www.advameddx.org Andrew Fish Executive Director, AdvaMedDx kristin@dxinsights.org afish@advameddx.org 19