Molecular diagnostics is the driving force behind the transformation today in healthcare and leading to a wealth of disruptive innovations. These include next-generation sequencing, liquid biopsies, early cancer detection, direct-to-consumer testing and point-of-care assays. In its fourteenth year, the Molecular Diagnostics conference is the industry leaders’ networking event and will outline recent developments and successful implementation of diagnostics from experts in the field. This year will also feature the 3rd Annual "Swimming with the Sharks" competition where companies pitch their company's value proposition to a panel of VCs and industry experts.
Scientific Advisory Board
Edward Abrahams, Ph.D., President, Personalized Medicine Coalition
Daniel H. Farkas, Ph.D., HCLD, Section Head, Molecular Pathology, Pathology and Laboratory Medicine Institute, Cleveland Clinic
Andrew C. Fish, J.D., Executive Director, AdvaMedDx
Girish Putcha, M.D., Ph.D., Director, Laboratory Science, Palmetto GBA (MolDX)
Monday, February 20
10:30 am Conference Program Registration Open
The roles of clinical validity and clinical utility in determining the medical usefulness of a molecular pathology testing procedure have been the subject of intensifying discussions. Qualitative criteria for clinical validity have historically been the standard for insurance coverage determinations. The variety and increasing complexity of molecular testing methodologies, especially Gene Expression Signatures and Next-Generation Sequencing (NGS) tests, are factors payers cite as reasons for comprehensive scrutiny of validity, outcomes and cost effectiveness. The practice of medicine is determined by the multidisciplinary healthcare team within a hospital/institution and represents the real battle ground where specific and individualized decisions are made involving all aspects of patient care. Often there is a disconnect between the advancing edge of the practice of individualized/personalized medicine and reimbursement policies. Examples highlighting these gaps and challenges will be presented. We will additionally explore solutions that focus on the best possible patient care under such limited reimbursement conditions and make the case for appropriate reimbursement in molecular genetic and oncology testing.
11:50 Chairperson’s Opening Remarks
Victoria M. Pratt, Ph.D., FACMG, Director, Pharmacogenomics Laboratory, Department of Medical and Molecular Genetics, Indiana University School of Medicine (AMP Professional Relations Committee, Member)
Dr. Pratt will provide an overview of AMP’s published framework for evidence needed for clinical utility. She will compare and contrast the successes and challenges with the lack of or limited coverage decisions from the Medicare Administrative Contractors (MACs) in the case of germline pharmacogenetics, such as CYP2D6.
12:05 pm Garnering Payer Support for Genomic Profiling by Demonstrating Clinical Utility
Pranil K. Chandra, DO, FCAP, FASCP, Vice President, Chief Medical Officer and Medical Director, Genomic and Clinical Pathology Services, PathGroup (AMP Economic Affairs Committee, Member)
Dr. Chandra will review PathGroup’s experience with certain payers in garnering appropriate reimbursement. In addition, he will review how to demonstrate clinical utility through illustrative examples highlighting diagnostic, prognostic, and/or therapeutic utility across hematologic and solid tumor malignancies.
12:20 NSCLC and Other Solid Tumors: Genetic Testing and Reimbursement
Rajyasree (Raj) Emmadi, M.D., Associate Professor, Clinical Pathology, Pathology, University of Illinois, Chicago (AMP Professional Relations Committee, Member)
The story of cancer therapy has been gradually evolving with the continuing identification of subpopulations, therapeutic targets and driver and resistance mutations. In this context, Dr. Emmadi will discuss the challenges and successes of forging collaboration between the science of targeted therapy and the practical concerns of reimbursement for non-small cell lung carcinoma (NSCLC) and other solid tumors.
12:35 PANEL DISCUSSION
1:00 Session Break
1:10 Luncheon Presentation I: Insight to Impact: Genomic Signature Discovery and Companion Diagnostics Development
Sean Ferree, Ph.D., Vice President, Diagnostic Development, NanoString Technologies
Gene expression signatures are emerging as important tools in realizing the vision of personalized oncology. A case study outlining the discovery of a gene expression signature and the process of translating it to a companion diagnostic will be presented.
1:40 Luncheon Presentation II: Integrating Computational Pathology and Tissue Analytics for Molecular Pathology
Paul O’Reilly, Ph.D., Head, Research, Image Analytics, Philips Digital Pathology
Computational Pathology will be a powerful driver of change in digital health and has the potential to improve diagnostic, prognostic and predictive pathology. Building powerful and scalable algorithms for tissue analytics allows for a variety of interpretative challenges.
2:10 Session Break
2:30 Chairperson’s Remarks
Edward Abrahams, Ph.D., President, Personalized Medicine Coalition
2:40 Putting Precision Medicine into Clinical Practice
David B. Roth, M.D., Ph.D., Simon Flexner Professor and Chair, Pathology and Laboratory Medicine Director, Perelman School of Medicine, University of Pennsylvania
Early studies defining the genetic basis for variable drug actions focused on outlier patients or small study groups, and more recent approaches have turned to larger DNA datasets, often coupled to electronic health records (EHRs). These large resources, in turn, have provided the starting point for new discovery in genome science and in pharmacogenomics. This talk will describe some of these advances and recent efforts to use DNA datasets coupled to EHRs to implement pharmacogenomics.
3:00 Challenges in Launching Companies in the Molecular Diagnostics Space
Trevor Hawkins, Ph.D., Entrepreneur in Residence, GE Ventures
More than just a capital partner, GE Ventures provides unrivaled access to a global network of GE expertise and resources. We partner and invest in the best ideas within software, healthcare, energy and advanced manufacturing. We partner with startups to accelerate growth and commercialize innovative ideas in software & analytics, healthcare, energy and advanced manufacturing that will help drive better outcomes for our customers and society. We combine capital, technical and commercial expertise, infrastructure, and access to GE’s global network of business units, partners and customers, world-class training, and resources to help companies grow and scale.
3:20 Personalized/Precision Medicine: How Regulatory and Reimbursement Policies Are Influencing Growth and Adoption
Paul Radensky, M.D., Principal, McDermott+Consulting; Partner, McDermott Will & Emery
Personalized/Precision Medicine continues to provide dramatic insights into the molecular basis of disease. The nature and pace of growth in this area raise a number of challenges for regulators and payers who operate under frameworks that were created decades before PM emerged. Recent changes in both regulatory and reimbursement policy are aimed at facilitating growth and adoption of PM. Will these approaches will be effective? What additional changes are needed?
3:40 PANEL DISCUSSION
4:10 Fully Automated Extraction of Circulating Cell-Free DNA from 4 ml of Plasma Combined with Automated Bisulfite Conversion
Christian Jurinke, Ph.D., Managing Director, STRATEC Molecular GmbH
Circulating cell-free DNA (cfDNA) is of interest in many applications (e.g. fetal DNA in maternal plasma, or liquid biopsies). We developed an automated cfDNA extraction method for the InviGenius Plus which can be integrated with automated bisulfite conversion.
4:25 Sponsored Presentation (Opportunity Available)
4:40 Refreshment Break and Transition to Plenary Session
5:00 Plenary Keynote Session
6:00 Grand Opening Reception in the Exhibit Hall with Poster Viewing
7:30 Close of Day
Tuesday, February 21
7:30 am Registration Open and Morning Coffee
8:00 Plenary Keynote Session
9:00 Refreshment Break in the Exhibit Hall with Poster Viewing
10:05 Chairperson’s Remarks
Girish Putcha, M.D., Ph.D., Director, Laboratory Science, Palmetto GBA (MolDX)
- From the perspective of different stakeholders, what are the strengths and weaknesses of companion diagnostics as an approach for drug and diagnostic development, approval and reimbursement? How can and should these challenges be addressed?
- Why are complementary diagnostics needed? What challenges with the companion diagnostic model do they solve? What new challenges do they create?
- How do different stakeholders envision these two approaches evolving?
10:10 Regulation of Companion and Complementary Diagnostics
Pamela Bradley, Ph.D., Staff Fellow, FDA CDRH
10:25 The Diagnostic Continuum of Precision Medicine
Scott D. Patterson, Ph.D., Vice President, Biomarker Sciences, Gilead Sciences, Inc.
The development and implementation of companion diagnostics (CDx) presents multiple challenges at each step. Aside from a few exceptions where the CDx is already part of the patients work-up, some of the challenges that present for a new CDx/drug combination include education across multiple stakeholder groups (physicians, payers, etc.), test availability, the use of Laboratory Developed Tests in place of the CDx, and whether competing CDx/drug combinations exist. These concepts will be introduced for discussion in the panel session.
10:40 Companion Diagnostic Strategies Are Here to Stay in Oncology
Walter H. Koch, Ph.D., Vice President, Global Research, Roche Molecular Systems
The number of targeted therapies with a companion diagnostic (CDx) test in the drug label continues to grow. The biomarker information that the CDx provides is necessary for safe and effective use of a corresponding therapeutic. Numerous examples of kinase inhibitors targeting constitutively activated mutant or overexpressed oncoproteins will be discussed as evidence that this approach will remain important in Oncology for the foreseeable future.
10:55 The The Companion and Complementary Diagnostics Business Model
Peter M. Krein, Managing Director, Diaceutics Group
The hope in the clinical Dx world had been that companion Dx tests would finally solve many of the challenges that have plagued the novel molecular testing market. Instead, it has often appeared to accentuate these challenges and shone a light on the difficulties of investing in such tests: namely conflicting interests with biopharma partners, minimal returns on investment, and typically limited barriers to competitive entry. Is there a better approach?
11:10 PANEL DISCUSSION
11:45 Reaching the Pinnacle: A Unique Cancer Diagnostic Tool that Harnesses the Power of RNA
Jon Armstrong, CSO, Cofactor Genomics
Cofactor’s Pinnacle assay generates a unique molecular profile for clinical cancer samples. Pinnacle provides quantitative insight for patient stratification and clinical studies by measuring the RNA expression across 318 prominent cancer genes and identifying fusions in 283 critical cancer-associated genes.
12:15 Session Break
12:25 Luncheon Presentation I: Lowering the Barriers for the Practical Implementation of High Precision Medicine
Rudi Pauwels, Ph.D., Founder & CEO, Biocartis
12:55 Luncheon Presentation II (Sponsorship Opportunity Available)
1:25 Refreshment Break in the Exhibit Hall with Poster Viewing
2:00 Chairperson’s Remarks
Girish Putcha, M.D., Ph.D., Director, Laboratory Science, Palmetto GBA (MolDX)
- Given the current state of the art, what are appropriate clinical applications for liquid biopsy-based tests and why? How are these different for circulating tumor DNA (ctDNA)-based versus circulating tumor cell-based approaches?
- What will liquid biopsy-based test developers need to prove to various stakeholders for such tests to gain widespread adoption, regulatory approval, and payer coverage and reimbursement for these different clinical applications; for example, for selection of targeted therapies, screening for cancer, minimal residual disease monitoring, etc?
2:05 Optimizing Cancer Treatment with Liquid Biopsies: The Example of Plasma EGFR Mutation Testing in NSCLC
Walter H. Koch, Ph.D., Vice President, Global Research, Roche Molecular Systems
The FDA recently granted the first Liquid Biopsy approval to the Roche cobas® EGFR Mutation Test v2 as a companion diagnostic for the non-small cell lung cancer therapy Tarceva®. Exploratory studies show that beyond therapy selection such tests may become important in monitoring therapy response, disease progression and resistance. There is further promise that liquid biopsy approaches will one day allow minimal residual disease determination, and early detection of cancer.
2:20 Regulation of Liquid Biopsies
Pamela Bradley, Ph.D., Staff Fellow, FDA
2:35 How Payers Are Considering Liquid Biopsy
Bryan Loy, M.D., MBA, Vice President, Oncology, Laboratory, and Personalized Medicine, Health Guidance Organization, Humana
Liquid biopsy based tests have the potential to provide a wide variety of clinical applications such as accurate diagnosis, prognosis, drug selection, or monitoring for disease recurrence. Payer interests include that these tests results are reliable, properly applied and are in fact valuable relative to existing alternatives.
2:50 PANEL DISCUSSION
3:40 Enabling Sequencing Technologies to Reach Their Full Potential
Brian Burke, Ph.D., Director, Business Development, Horizon Discovery
We’re close to something fantastic, the advancement in sequencing technologies (ie. liquid biopsies) is surpassing expectations and the promise of precision medicine is close to being fulfilled. We explore how reference materials help lower barriers so that every lab is able to achieve that gold-standard assay and deliver everything, every time.
4:10 Hollywood Oscar Dessert Reception in the Exhibit Hall with Poster Viewing
5:00 Breakout Discussions in the Exhibit Hall
These interactive discussion groups are open to all attendees, speakers, sponsors, & exhibitors. Participants choose a specific breakout discussion group to join. Each group has a moderator to ensure focused discussions around key issues within the topic. This format allows participants to meet potential collaborators, share examples from their work, vet ideas with peers, and be part of a group problem-solving endeavor. The discussions provide an informal exchange of ideas and are not meant to be a corporate or specific product discussion. Pre-registration to sign up for one of the topics will occur a week or two prior to the Event via the App.
Recent FDA Feedback, Tips and Trends for IVDs
Gail Radcliffe, President, Consulting, Radcliffe Consulting, Inc.
- RTA Checklist: tips for jumping over the first hurdle
- Next-Gen Testing: regulation snafu
- CLIA Waiver: simple and low risk of erroneous result
- De Novo: providing rationale to support De Novo classification
Cell-Free DNA Profiling In The Clinic
Dana W. Y. Tsui, Ph.D., Assistant Attending Geneticist; Member, Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center
- Applications for molecular profiling in oncology
- Applications for monitoring treatment efficacy (e.g. transplantation)
- Practical considerations (Sample processing, logistics and quality controls)
6:00 Close of Day
Wednesday, February 22
7:00 am Registration Open
7:00 Breakfast Presentation (Sponsorship Opportunity Available) or Morning Coffee
8:00 Plenary Keynote Session
10:00 Refreshment Break and Poster Competition Winner Announced in the Exhibit Hall
10:50 Swimming with the Sharks
Back by popular demand is the "Swimming with the Sharks" competition! Companies seeking venture funding will pitch their company's value proposition to a panel of judges and the top place winner will receive recognition as the "2017 Tri-Con Most Promising Company"
Congratulations to the top finalists for the 2017 Swimming with the Sharks competition:
- Abreos Biosciences, Inc.
- Deton
- Envision Genomics
- Geneoscopy
- Nephrogen Sciences, Inc.
- PrecisionProfile, Inc.
- Selfdiagnostics
- SpinDiag GmbH
Format:
- 8 companies will give 5 minute presentations in the competition
- Summary and Award for top start-ups (first and second place) will be presented by panel of judges
Qualifying Criteria:
- Clinical Utility
- Investor Readiness
Click here to learn more
Moderator: Alan B. Carter, CEO, Wobblebase, Inc
Panel of Judges:
Mark S. Boguski, M.D., Ph.D., Founder & CMO, Precision Medicine Network, Inc.
Harry Glorikian, Healthcare Consultant
Chris Heid, Treasurer and Board Member, Berkeley Angel Network
Jenny Rooke, Ph.D., Managing Director, 5 Prime Ventures
Jan Van den Berghe, Lipa Holding NV
Selection and Coaching Committee
Alan B. Carter, CEO, Wobblebase, Inc
Chris Heid, Treasurer and Board Member, Berkeley Angel Network
12:30 pm Session Break
12:40 Luncheon Presentation (Sponsorship Opportunity Available) or Enjoy Lunch on Your Own
1:10 Refreshment Break in the Exhibit Hall and Last Chance for Poster Viewing
1:50 Chairperson’s Remarks
Karsten Schmidt, Ph.D., CTO, Trovagene
2:00 Cell-Free DNA Investigation in Urine for Cancer Detection
David Berz, M.D., Ph.D., MPH, Assistant Professor, Department of Cellular Therapeutics, City of Hope Beckman Research Institute
2:30 Cell-Free DNA as an Analyte in Transplantation, Autoimmune Disease and Trauma
Dana W. Y. Tsui, Ph.D., Assistant Attending Geneticist; Member, Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center
The analysis of cell-free DNA offers tremendous opportunity for molecular diagnostics. This talk will give a general overview of its applications across different clinical scenarios, focusing on its utility in monitoring organ transplantation, and its characteristics as an analyte in autoimmune disease, such as systemic lupus erythematosus, and its potential as a prognostic marker for trauma patients.
3:00 Central and Peripheral Biomarkers of Neurodegenerative Diseases
Mark Frasier, Senior Vice President, Research Programs, Michael J. Fox Foundation for Parkinson’s Research
Clinical trial success of novel disease-modifying drugs in neurodegenerative diseases is dependent upon the existence of reliable objective biomarkers that assist with patient selection, stratification, and data interpretation. Significant investments have been made in developing imaging, biochemical, and digital biomarkers for Parkinson’s disease. This talk will survey the current landscape of biomarkers for Parkinson’s and Alzheimer’s disease and emphasize the challenges and opportunities in neurodegenerative diseases.
3:30 Session Break
3:40 Chairperson’s Remarks
Andrew C. Fish, J.D., Executive Director, AdvaMedDx
3:45 Big Data – The Devil’s in the Details
Elaine K. Jeter, M.D., J1 MolDx Medical Director, Palmetto GBA
Linking effective therapies and expanded trial designations are the expected benefit of the ever-expanding capabilities of genomic biomarker and gene expression identification. More and more data is being generated every day. Keeping that data ‘valuable’ will require we maintain a critical focus on the quality and comparative values of the data, especially in the area of genomics and more specifically outcomes. Other questions will arise around where the data is collected, how it is curated, and who has access. As a Medicare payer, we support the concept of data collection/aggregation if that data can be effectively mined to create ever improving treatment protocols and more importantly improved outcomes.
4:00 Efficiently Leveraging Commercial and Open Source Bioinformatics Tools for Clinical Interventions and Research Discoveries from Very Large Datasets
Ben Busby, Ph.D., Genomics Outreach Coordinator, NCBI, NLM/NIH
In precision medicine, it is often the case that efficacy does not depend on the appropriate computational intervention, but on the morphology of the data that informs the problem. For example, different strategies should be employed when calling short variants in stable versus unstable regions of the human genome, or when looking for pathogenic effectors in well-characterized versus newly discovered bacterial or viral pathogens. Pragmatic solutions from existing commercial and open source resources will be presented.
4:15 From Bits to Bedside: Developing a Learning Digital Health System to Evaluate Pigmented Skin Lesions
Dexter Hadley, M.D., Ph.D., Assistant Professor, Pediatrics, Institute for
Computational Health Sciences, University of California, San Francisco
Melanoma accounts for less than one percent of skin cancer cases but the vast majority of skin cancer deaths. Early screening and diagnosis significantly improves patient outcomes, yet no systematic framework exists for clinical evaluation of common pigmented lesions for risk of melanoma. In this talk, I will describe our approach to develop a learning health system focused on precision screening and diagnosis of skin cancer. We first leverage medical students in the clinics to capture digital samples of pigmented skin lesions at scale with mobile health technology. We then leverage this clinical big data to train state-of-the-art deep learning image classification algorithms to better screen for cancer. Our work translates routinely documented electronic health data into an impactful digital health initiative to directly improve clinical outcomes and advance clinical knowledge.
4:30 PANEL DISCUSSION
5:15 Close of Conference Program
