Molecular diagnostics, genomics and omics introduced tools and technologies that have the potential to guide clinical decisions and trials, and to re-shape healthcare in general. The technologies have matured, and they are widely available. Implemented
and adopted they warrant a new era in medicine and drug development. The process of molecular diagnostics integration into healthcare delivery systems as well as in drug discovery and development goes hand in hand with the big data-driven healthcare
revolution. Another important condition of advantageous use of clinical sequencing are the regulatory and reimbursement outlooks. Cambridge Healthtech Institute’s Molecular Diagnostics Strategy and Outlook conference is designed to bring together
major stakeholders in the field of molecular diagnostics and personalized medicine such as pharma and IVD executives, payers, regulators, healthcare executives and scientific leaders, to come up with solutions to unleash the potential of molecular
testing and to integrate it in the next generation healthcare and drug development.
Final Agenda
Monday, March 11
10:30 am Conference Program Registration Open (South Lobby)
11:50 Chairperson’s Opening Remarks
Jamie Platt, PhD, Chief Executive Officer, BRIDGenomics
12:00 pm FDA Updates: Now and Looking to the Future
Tim Stenzel, MD, PhD, Director, Office of In Vitro Diagnostics and Radiological Health, Center for Devices and
Radiological Health, U.S. Food and Drug Administration
Introduction and background of the new Office Director of OIR and updates on precision medicine and other initiatives at the FDA.
1:00 Session Break
1:10 Luncheon Presentation: Recent Advances in Lyophilized qPCR Reagents
Will Geist, Vice President, General Manager, Genetic Science Division, ThermoFisher Scientific
The use of qPCR for detecting infectious diseases has become routine practice in recent years due to the simple workflow, sensitivity and cost. Molecular Diagnostics companies are seeking solutions to overcome thermo labile properties of standard qPCR
reagents. We have developed lyophilization-ready (lyo-ready) polymerase and reverse transcriptase formulation. In addition to lyo-ready components, we will showcase lyo-ready RT-qPCR Master Mix and lyophilized Multiplex PCR assays for infectious disease
detection.
1:40 Session Break
2:30 Diagnostics in an Instant - Meeting the Changing Expectations of Laboratory Testing in Today’s Healthcare Environment
Tom Kaminski, Senior Vice President, Corporate Strategy,
LabCorp
There are a number of factors that are impacting the role of diagnostics in healthcare. One is growing consumerism. Individuals are looking for ways to manage their health in a convenient and affordable way. Where or how do you collect a sample, how
do you report the result? In our instant environment you need to provide personalization, on-demand support, convenience of the testing itself and a complete experience.
3:00 Implementing a Genomic Precision Health Program in an Integrated Delivery System
Marc S. Williams, MD, Director, Geisinger Genomic Medicine
Institute
Precision health is an emerging concept in healthcare. While not synonymous with genomic medicine, genomic information represents an essential component to inform risk assessment and intervention. This talk will present the experience of a large integrated
healthcare delivery system’s Precision Health program implementation. Preliminary data about the impact on health outcomes will be presented.
3:30 CO-PRESENTATION: How the GEHC/Roche Partnership Aims to Save Lives: Enabling Clinicians to Do What They Do Best
Bryan Cobb, PhD, FACMG, Global Partner Lead, Diagnostics Information Solutions, Roche
Sundararajan
Mani, General Manager, Oncology, GE Healthcare
The GEHC-Roche Acute Care team is focused on using approaches such as machine learning plus real-time patient data to better predict who needs sepsis prevention care. By developing tools that will enable HCPs to predict patients that are at-risk for
developing sepsis sooner, intervention can be deployed for the right patient at the right time, improving patient outcomes and hospital costs. This talk will discuss R&D models along with prototype plans. The GEHC-Roche Oncology team is focused
on using data across multiple sources to enable clinicians to diagnose and treat patients in a consistent, cost effective fashion that is accessible to all communities across the world. The team will be developing solutions leveraging the latest
digital technologies including machine learning and plans to provide solutions dedicated to the Oncology team and patients.
4:10 Challenges and Opportunities for Increasing Synergy in Molecular Diagnostics and Digital Health: Expert Panel Discussion
Moderator: Jamie Platt, PhD, Chief Executive Officer, BRIDGenomics
Panelists: Speakers of the Session
4:40 Refreshment Break and Transition to Plenary Session
5:00 Plenary Keynote Session (Room Location: 3 & 7)
6:00 Grand Opening Reception in the Exhibit Hall with Poster Viewing
7:30 Close of Day
Tuesday, March 12
7:30 am Registration Open and Morning Coffee (South Lobby)
8:00 Plenary Keynote Session (Room Location: 3 & 7)
9:15 Refreshment Break in the Exhibit Hall with Poster Viewing
10:15 Chairperson’s Remarks
Phil Febbo, MD, CMO, Senior Vice President, Clinical Genomics, Illumina
10:25 The Path to Clinical Whole Genome Analysis as Standard of Care
Phil Febbo, MD, CMO, Senior Vice President, Clinical Genomics,
Illumina
Clinical whole genomes are feasible and affordable and will become the standard of care when there is utility to having a definitive and comprehensive genomic assessment. With continued application and publication of results, health care providers
will become more informed about the feasibility and utility of clinical whole genome sequencing; with improved sample-to-answer sequencing technologies, more laboratories will be able to perform whole genomes; and, through significant collaborative
and industry efforts, there will be more robust annotation, interpretation, and actionability of the genome. When these initial barriers are overcome, use will increase, the benefit to patients assessed, and adoption will occur in those settings
where patient outcomes improve.
10:55 Translating Human Genetic Insights into Drug Discovery Impact
Janna Hutz, PhD, Senior Director, Head of Data Sciences & Scientific Infrastructure, Eisai
It is well established that therapeutic targets supported by robust genetic association data are more likely to result in approved medicines than therapeutic targets that are not. There is now a growing appreciation of how insights from human genetics
can go beyond target discovery and validation, to impact across the spectrum of drug discovery and development. We have unprecedented substrate and opportunity to realize a new paradigm in human genetics guided discovery and development of precision
therapeutics.
11:25 AI Genomics: Changing the Cancer Landscape
Riley Ennis, COO, Freenome
Traditional cancer screening test development has yielded major gaps in performance and patient outcomes. This is due, in part, to the limitations of analyzing a small, fixed number of genes or proteins, limiting the inputs necessary to evolve and
compensate for false positive results. Come hear how AI genomic approaches are being leveraged to create smart, blood-based diagnostic tests that improve in performance over time with each sample processed.
11:55 Faster Together: Avoid Development Roadblocks by Partnering Early with MilliporeSigma
Savita Bagga, PhD, MBA, Invitro Diagnostics Segment, Marketing Manager, MilliporeSigma
Explore how we connect researchers with MilliporeSigma experts to exchange challenges/perspectives on IVD development. With more understanding of customer pain points, our R&D teams can offer customized solutions for the IVD industry's specific
needs and accelerate the path to commercialization.
12:25 pm Session Break
12:35 Luncheon Presentation I: Seeking Coverage and Reimbursement for New Technologies
Greg Richard, Chief Commercial Officer, Interpace Diagnostics
Securing coverage and reimbursement for new technologies is a difficult and arduous process for providers. While payers have adopted favorable coverage policies for some molecular diagnostics, strategies such as requiring pre-authorization and
delegating decision-making for laboratory services to third parties make the process more complex and less transparent. However, there are some tactics that can potentially be useful in overcoming these challenges; this talk will review these
options and provide examples of their success.
1:05 Session Break
1:35 Refreshment Break in the Exhibit Hall with Poster Viewing
2:05 Chairperson’s Remarks
Kathryn Phillips, PhD, Professor of Health Economics and Founding Director, UCSF Center for Translational and Policy Research on Personalized Medicine (TRANSPERS), Department of Clinical Pharmacy, University of California San Francisco
2:10 PANEL DISCUSSION: FDA and Payers: Does FDA Approval and CMS Coverage Mean More Than Before?
In 2017, the FDA and CMS announced joint approval and coverage decisions for tumor sequencing tests. This decision generated intense controversy and has important implications that go well beyond a specific test. This panel will have a lively discussion
about the implications of this coverage determination from the perspectives of regulators, payers, industry, and policymakers.
- Will private payers and regional Medicare contractors follow the national CMS policy – and should they?
- Will the CMS decision, which ties coverage to FDA approval/clearance, impede the use of lab-developed tests that do not have FDA approval/coverage? What will be the impact on access for patients?
- Will FDA/CMS parallel review become the norm in the future and if so, what does that mean for industry and test developers?
Moderator:
Kathryn Phillips, PhD, Professor of Health Economics and Founding Director, UCSF Center for Translational and Policy Research on Personalized Medicine (TRANSPERS), Department of Clinical Pharmacy, University of California San Francisco
Panelists:
Erick Lin, MD, Medical Director, Clinical Content at Blue Cross Blue
Shield Association
Robert Nussbaum, MD, CMO, Invitae
Wade M. Aubry, MD, Associate
Clinical Professor of Medicine and Core Faculty, PRL-IHPS, University of California San Francisco; Former BCBS and Medicare Medical Director
Tim Stenzel, MD, PhD, Director, Office of In Vitro Diagnostics
and Radiological Health, Center for Devices and Radiological Health, U.S. Food and Drug Administration
4:10 St. Patrick’s Day Celebration in the Exhibit Hall with Poster Viewing
5:00 Breakout Discussions in the Exhibit Hall
6:00 Close of Day
Wednesday, March 13
7:30 am Registration Open and Morning Coffee (South Lobby)
8:00 Plenary Keynote Session (Room Location: 3 & 7)
10:00 Refreshment Break and Poster Competition Winner Announced in the Exhibit Hall
10:50 Chairperson’s Remarks
Mark Nunes, MD, Division Chief, Medical Genetics, Kaiser Permanente
11:00 CO-PRESENTATION: Promise vs. Pragmatics for Precision Medicine in the Electronic Medical Record
Mark Nunes, MD, Division Chief, Medical Genetics, Kaiser Permanente
Monica Alvarado, MS,
LCGC, Regional Genetic Services Administrator, Kaiser Permanente
Precision medicine’s promise depends on backstage integration and exploitation of genetic information in Electronic Medical Records (EMR). Ideally, an individual’s genetic or genomic information informs risk stratification, prevention,
medical management, and therapy. The Learning Healthcare System drives innovation and quality, each iteration creating the collective “crowd sourced” evidence base. However, dreams quickly meet reality. We will discuss the precision
medicine challenges and solutions engaged by Kaiser’s large integrated healthcare system: family history, cascade testing, DNA results in the EMR, management guidelines for rare and common disease, PharmacoGenomics (PGx), facilitating genome
wide association studies (GWAS), and education.
11:30 What’s Data Got To Do With It
Suzanne Belinson, PhD, Vice President, Commercial Market, Tempus
The value from genetic testing is not from the consumable good, it is not inherent in the test itself but in the insights that can be gained through interpretation of the results and the aggregation of those results with the results of others. Tempus
is a technology company that has build the world’s largest library of clinical and molecular data and an operating system to make that data accessible and useful, starting with cancer. Dr. Belinson will discuss how these insights can make
precision medicine a reality for patients, providers and payers.
12:00 pm Linked Clinical and Genomic Data: A Major Step towards Personalized Cancer Care
Ken Carson, MD, PhD,
Senior Medical Director, Flatiron
Moving from precision medicine to personalized medicine will require incorporation and synthesis of data from a variety of channels. The widespread adoption of Electronic Health Records (EHRs) provides an opportunity to match real-world data on cancer
treatments, toxicities, and outcomes to high-quality genomic, transcriptomic, and proteomic data. However, stringent data curation is necessary to ensure datasets are of sufficient quality to drive discovery and clinical decision making. Dr. Carson
will explore insights we are able to draw today from a combination of real-world clinical evidence from the patient’s EHR, matched with genomic analysis. This data pairing transforms cross-sectional genomic data into a longitudinal dataset
capable of generating novel insights, many of which could previously be assessed only through clinical trials or patient registries. Expansion of this platform will be a major part of the evolution to truly personalized healthcare.
12:30 Enjoy Lunch on Your Own
1:10 Refreshment Break in the Exhibit Hall and Last Chance for Poster Viewing
1:50 Chairperson’s Remarks
Alex Vadas, PhD, Managing Director, L.E.K. Consulting
2:00 SESSION PANEL: What Should be the FDA’s Role in Oversight of LDTs? A Town Hall Discussion
There are multiple ways in which the industry strives for quality including FDA, CLIA and CAP accreditations, clinical quality controls, and laboratory medicine training programs. The purpose of these approaches is to limit risk from bad actors and
poor laboratory medicine and are necessary. However diagnostics innovation is evolving at rapid pace and there are (and will continue to be) a number of areas where oversight mechanisms fall short, these may include:
- Tests with evolutionary content and interpretation (e.g., BRCA, F1CDx, opioid monitoring)
- Personalized tests that are designed uniquely for each patient (e.g., Signatera)
TriConference has assembled a panel of experts coming from different industry vantage points which gives us a unique opportunity to discuss the role of oversight, situations where current approaches fall short, and potential solutions to address deficiencies
going forward. The topics to be discussed include:
- What is the purpose of oversight in diagnostics?
- What mechanisms are in place to ensure quality?
- What are ongoing legislative or other changes that may impact laboratory oversight?
- What is the role of LDTs (e.g., fill a gap, address deficiencies with FDA-approved tests)?
- What are situations where existing regulatory or oversight approaches fall short (panel to identify specific examples and highlight key issues)? For example:
- What are real-world issues that may arise from these shortfalls? How do they impact various stakeholders?
- Picking two specific examples of evolutionary content and personalized tests what is the path forward?
- What are insights for diagnostics companies? What about pharma?
Moderator:
Alex Vadas, PhD, Managing Director, L.E.K. Consulting
Participants:
Girish Putcha, MD,
PhD, CMO & Clinical Laboratory Director, Freenome
Alberto Gutierrez, PhD, Partner, NDA Partners
LLC; Former Director, Office of In Vitro Diagnostics and Radiological Health, FDA
Brian Abbott, Global
Regulatory Lead, CDx Advisor, Amgen
Victoria Pratt, PhD, FACMG, Director, Pharmacogenomics and Molecular
Genetics Laboratories, Medical and Molecular Genetics, Indiana University School of Medicine; President, AMP
Dennis Dietzen, PhD, Associate Professor of Pediatrics
and Pathology, Washington University, President, AACC
Solomon Moshkevich, General Manager, Oncology
& Transplant Businesses, Natera
3:30 Session Break
3:40 Chairperson’s Remarks
Harry Glorikian, Healthcare Consultant
3:45 Digitizing Human Health with Molecular and Phenome Data
Renee Deehan Kenney, PhD, Vice President, Computational Biology, PatientsLikeMe
PatientsLikeMe has over a decade of experience collecting patient-generated health data to help individuals track information about their health and improve their outcomes. In order to leverage concomitant advances in molecular measurement technology,
we have begun collecting and analyzing biosamples on a diverse array of omics platforms, including DNA and RNA sequencing, methylomics, immunosignature, metabolomics and proteomics measurements. In this session, we will discuss the development
of a biocomputing platform that applies machine learning and other modeling techniques to aid researchers in extracting meaningful health insights from complex biological and phenomic data sets, and a case study that demonstrates the utility of
the platform.
4:15 Cancer Deep Phenotype Extraction from Electronic Medical Records (DeepPhe)
Guergana
Savova, PhD, FACMI, Associate Professor, PI Natural Language Processing Lab, Boston Children’s Hospital and Harvard Medical School
We present the DeepPhe software for extracting deep phenotype information from EMRs. The software is a significant departure from other efforts in the field, as it enables comprehensive longitudinal data processing from various sources. The envisioned
applications are far-reaching, from translational clinical investigations to cancer surveillance and precision oncology initiatives.
4:45 PANEL DISCUSSION: Transformation Revolution in Laboratory Medicine
Moderator: Harry Glorikian, MBA, Healthcare Consultant; Author, MoneyBall Medicine: Thriving in the New Data-Driven Healthcare Market
Panelists: Speakers of the Session
5:15 Close of Conference Program