Precision Medicine

The Precision Medicine conference will assess current developments and steps needed to make personalized therapy available to the physicians and patients. This year’s program will explore NGS-assisted healthcare delivery in cancer and non-invasive prenatal testing (NIPT). Using big data analytics to understand results and generate systems to scale is essential to keeping up with the data being accumulated to deliver precision medicine. Innovative approaches to combining targeted therapy approaches with immunotherapy represents a way to increase success rates and lower toxicity of altering the immune system.

Scientific Advisory Board

Harry Glorikian, MBA, Healthcare Consultant

Stephen F. Kingsmore, MB, ChB, BAO, DSc, FRCPath, President and CEO, Rady Pediatric Genomics & Systems Medicine Institute, Rady Children's Hospital, San Diego

Michael N. Liebman, Ph.D., Managing Director, IPQ Analytics, LLC; Professor, Drexel College of Medicine; Professor, Wenzhou First University Medical School

John Quackenbush, Ph.D., Professor, Computational Biology & Bioinformatics, Harvard Medical School

Michael H. A. Roehrl, M.D., Ph.D., Director, Precision Pathology Biobanking Center, Memorial Sloan Kettering Cancer Center


Monday, February 12

10:30 am Conference Program Registration Open


11:50 Chairperson’s Opening Remarks

Rourke Yeakley, M.D., MHA, Head of Innovation, Droice Labs

12:00 pm Using Networks to Link Genotype to Phenotype

John Quackenbush, Ph.D., Professor, Computational Biology & Bioinformatics, Harvard Medical School

We have found that the networks, and their structure, provide unique insight into how genetic elements interact with each other and the structure of the network has predictive power for identifying SNPs likely to be associated with phenotype through genome wide association studies. I will show multiple examples, drawing on my work in cancer, in chronic obstructive pulmonary disease, and in the analysis of data from thirty-eight tissues provided by the Genotype-Tissue Expression (GTEx) project.

12:30 Precision Medicine in Oncology: Distinguishing Hope from Hype

Kenna R. Mills Shaw, Ph.D., Executive Director, Institute for Personalized Cancer Therapy, MD Anderson Cancer Center

A fraction of patients with mutations are treated with matched therapies. Identifying targetable alterations requires a comprehensive understanding of functional genomics, biochemical data on pharmaceutical agents, and clinical trial metadata. Proactive notification of therapeutic opportunities can improve patient assignment to genomically-driven clinical trials. We demonstrate how a system can address challenges in interpretation of NGS reports and how this can play a role in precision medicine and improved outcomes.

1:00 Session Break

1:10 Luncheon Presentation I: Advancing Precision Medicine with Multiplexed Signatures

Sean Ferree, Vice President, Diagnostic Development, NanoString Technologies

Realizing the promise of precision medicine relies on increasingly complex, multiplexed assays. While in some cases a single mutation or variant is adequate for clinical decision-making, multiplexed signatures that capture a wider range of biology are often necessary. As an example, in the field of ImmunoOncology characterizing the complex interplay between the tumor, microenvironment, and immune system is important to understanding the biology and developing signatures to guide clinical decision making.

 Beckman Coulter Life Sciences 1:40 Luncheon Presentation II: Getting the Whole Picture: How DNA and RNA NGS from a Single Clinical Specimen can Alter Therapeutic Strategy

Robyn Sussman, Ph.D., R&D Coordinator, Center for Personalized Diagnostics, Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania

As the prognostic and therapeutic importance of genomic testing increase for solid tumors, the ability to maximize testing from limited samples becomes ever more important. The dual extraction of DNA and RNA from single specimens allows for the parallel detection of somatic DNA variants with rearrangements and oncogenic isoforms from RNA. The combined results from DNA- and RNA- based NGS has led to the detection of variants that changed the therapeutic strategy for our patients.

2:10 Session Break


2:30 Chairperson’s Remarks

Harry Glorikian, MBA, Healthcare Consultant

2:40 Defining Value of Precision Medicine for Payers

Marc S. Williams, M.D., FAAP, FACMG, FACMI, Director, Genomic Medicine Institute, Geisinger Health System

Coverage and reimbursement decisions hinge on medical necessity and a determination of the investigational status of an intervention. Applying this approach to precision medicine presents a dilemma for payers. This talk will explore the value proposition of precision medicine from the payer perspective and propose solutions for potential barriers to reimbursement.

3:00 Genomic Medicine in Clinical Care

A. Keith Stewart, M.D., Professor, Medicine, Hematology & Oncology, Mayo Clinic

The Mayo Clinic Center for Individualized Medicine focusses on the deployment of genomic medicine into clinical care. Significant activities include Oncology, Rare and Undiagnosed Disease and Predictive Genomics (both pharmacogenomics and whole exome testing). In 2016 over 16,000 patients underwent genomic testing at our institution and clinical trials involving over 60,000 patients are ongoing. We will discuss our experience to date, the opportunity and the ongoing challenges in adopting individualized medicine at scale.

3:20 Is Your Primary Care Doc Ready for Precision Medicine: Clinical Challenges in Using Big and Small Genomic Data

Mark E. Nunes, M.D., Professor, Pediatrics, University of California, San Diego; Division Chief, Medical Genetics, Kaiser Permanente

GWAS and SNPs, CNV and VUS, this new vocabulary was not taught in medical school. The success of precision medicine depends on reapplying the basics of epidemiology and Bayesian test interpretation to the brave new world of data being produced by genomics. The challenges in educating clinicians, laboratories, information technology providers, health care systems, and the individual patients these served are discussed using examples from primary care and genetics clinics.


Additional Panelist: Kenna R. Mills Shaw, Ph.D., Executive Director, Institute for Personalized Cancer Therapy, MD Anderson Cancer Center

  • Incorporating unstructured patient notations with traditional database organizational structures
  • Overcoming silos created with data collected from multiple departments
  • Using natural language to integrate long-form written reports or analyses
  • Addressing challenges with acquiring, sifting, managing, and utilizing big data in healthcare

4:10 Powering for Precision Medicine:  Scaling Lab Operations with a Molecular LIMS

Mariko Matsutani, CLS, MT(ASCP) CLIA Laboratory Administrative Director, Trovagene

In this age of precision medicine, molecular labs are facing more demand than ever before, which comes with increased workflow complexity and data processing demands. Learn how a flexible, molecular-focused LIMS ensures that these labs are prepared to scale, meet market need, and deliver timely, reliable results.

4:25 A Multi-Level Approach to Enhance Cancer Knowledge at Molecular Level

Mark Connelly, PhD, Chief Industrial Operation, R&D Officer, US Menarini Silicon Biosystems Inc

DEPArray™ sorting technology (for research use only) represents a necessary tool for investigating cancer genomes, enabling multi-level applications for obtaining a fine-grain characterization of copy-numbers, LOH and tumor-specific variants, independently of original tumor content.

4:40 Refreshment Break and Transition to Plenary Session

5:00 Plenary Keynote Session (click here for more details)


Precision for Medicine

 6:00 Grand Opening Reception in the Exhibit Hall with Poster Viewing

7:30 Close of Day

Tuesday, February 13

7:30 am Registration Open and Morning Coffee

8:00 Plenary Keynote Session (click here for more details)

9:00 Refreshment Break in the Exhibit Hall with Poster Viewing


10:05 Chairperson’s Remarks

John Quackenbush, Ph.D., Professor, Computational Biology & Bioinformatics, Harvard Medical School

10:15 Challenges in Applying Radiomics Approaches to the Real World

Laurence E. Court, Ph.D., Assistant Professor, University of Texas, MD Anderson Cancer Center

Feature extraction for radiomics studies typically comprises the following stages: imaging, segmentation, image processing, and feature extraction. Each of these stages has associated uncertainties that can affect the quality of a radiomics model created using the resulting image features. In this session, we will describe approaches to quantify these variabilities, and then harmonize or mitigate their impact, including the most recent results for CT, MRI and PET imaging.

10:35 Data Standards in Radiomics Research

Andrey Fedorov, Ph.D., Assistant Professor, Radiology, Brigham and Women’s Hospital, Harvard Medical School

The goal of this talk is to discuss the role of data standards, and specifically the Digital Imaging and Communication in Medicine (DICOM) standard, in supporting radiomics research. From the clinical images, to the storage of image annotations and results of radiomics analysis, standardization can potentially have transformative effect by enabling discovery, reuse and mining of the data, and integration of the radiomics workflows into the healthcare enterprise.

10:55 Emerging Role of Radiomics in Precision Medicine: Clinical Perspective

Lawrence H. Schwartz, M.D., Department of Radiology, Division of Abdominal Imaging; Chair, Department of Radiology, Service Chief and Attending Physician, New York-Presbyterian Hospital

Imaging plays a major role in the evolving field of precision medicine; delivering the right treatment to the right patient at the right time. While medical imaging has always been personalized, the use of advanced imaging modalities, multiparametric imaging, quantification, and radiomics have accelerated the development of imaging in precision medicine paradigms. Radiomics may be used as an adjunct to other molecular diagnostics in all aspects of patient care including screening, staging, and treatment response.

11:15 PANEL DISCUSSION: Confronting Challenges of Using Precision Medicine

11:45 Presentation to be Announced  

12:15 pm Session Break

12:25  Enjoy Lunch on Your Own

1:25 Refreshment Break in the Exhibit Hall with Poster Viewing


2:00 Chairperson’s Remarks

Stephen F. Kingsmore, M.D., D.Sc., President and CEO, Rady Children’s Institute for Genomic Medicine

2:10 Rapid Precision Medicine in Neonatal and Pediatric Intensive Care Units

Stephen F. Kingsmore, M.D., D.Sc., President and CEO, Rady Children’s Institute for Genomic Medicine

Genetic disorders are a leading cause of morbidity and mortality in infants. Rapid Whole Genome Sequencing (rWGS) can rapidly diagnose genetic disorders enabling precision medicine interventions that can decrease morbidity and mortality in neonatal intensive care unit (NICU) infants. In the setting of case examples, I will review recent evidence that rWGS-based precision medicine improves outcomes and lowers healthcare utilization in inpatient infants.

2:30 A Clinical Utility Study of Exome Sequencing versus Conventional Genetic Testing in Pediatric Neurology

Joris A. Veltman, Ph.D., Professor, Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center

We studied the clinical utility of exome sequencing (WES) in 150 patients with complex pediatric neurology in terms of diagnostic yield and costs. All patients received both the standard diagnostic workup and WES simultaneously. This allowed direct comparison of diagnostic yield of both trajectories and provided insight into the economic implications of implementing WES. WES identified significantly more conclusive diagnoses (29.3%) than the standard care pathway (7.3%) without incurring higher costs.

2:50 Cost-Effectiveness Analysis of Genome Sequencing

Nancy J. Mendelsohn, M.D., Chief Specialty Pediatrics, Genomics Medicine Program Clinician, Children’s Minnesota

Medically complex children account for the majority of the total heath cost of pediatric care. We hypothesized that more timely and efficient genome sequencing would lower the cost of care and modeled the impact of performing rapid WES/WGS as a first-tier test in newborns. Analysis included cost per diagnosis and impact on cost of care from a payer and health care system perspective related to changes in clinical management.


  • Does it work as a diagnostic tool?
  • Does it change patient management?
  • Modeling cost effectiveness

3:40 Designing and Implementing Testing Strategies for Non-Oncology Applications

Joseph V. Ferrara, President, Boston Healthcare Associates

This session will provide an overview of the similarities and differences of non-oncology and oncology indications and describe key issues associated with both, e.g. testing large patient populations to locate small numbers of responders. Using case studies (e.g., obesity, ADHD, rare disease), we will examine best practice for creating and working with laboratories to implement successful diagnostic testing programs and explore how to build a cost effective testing program that facilitates patient identification.

4:10 Valentine’s Day Celebration 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.

Precision Medicine in The Acute Care Setting

Rourke M. Yeakley, MD, MHA, Head of Innovation, Droice Labs

  • Overcoming current barriers
  • Accessing data in a timely manner
  • Utilizing artificial intelligence for decision making

How do I Know if This Genetic Test is Any Good?

Jeanette McCarthy, MPH, PhD, Founder, Precision Medicine Advisors

  • Re-defining clinical validity
  • Requirements for FDA clearance of genetic tests
  • Expanding definition of utility

6:00 Close of Day

Wednesday, February 14

7:30 am Registration Open and Morning Coffee

8:00 Plenary Keynote Session (click here for more details)

10:00 Refreshment Break and Poster Competition Winner Announced in the Exhibit Hall


10:50 Chairperson’s Remarks

Michael H. A. Roehrl, M.D., Ph.D., Director, Precision Pathology Biobanking Center, Memorial Sloan Kettering Cancer Center

11:00 Integrative Analysis of Non-Small Cell Lung Cancer

Cyrus V. Hedvat, M.D., Ph.D., Director, Translational Pathology and Biomarker Technologies, Bristol-Myers Squibb

A subset of NSCLC benefit from PD-1/L1 inhibitors and PD-L1 expression enriches for efficacy, but additional biomarkers are critically needed to inform strategies for non-responding tumors and for combination immunotherapies. We have performed a cross-platform analysis in a cohort of NSCLC in which features of the tumor/tumor microenvironment on H&E, immunohistochemistry/image analysis and genomic/genetic data are integrated to characterize molecular/phenotypic subsets - deepening our understanding of potential therapeutic vulnerabilities.

11:20 Evasion of immunosurveillance by genomic alterations of PPARγ/RXRα in bladder cancer

Victoria Rimkunas, Ph.D., Senior Investigator, Biomarkers and Companion Diagnostics, H3 Biomedicine, Inc.

Clinical data sets and an in vivo tumor model indicate that PPARγHigh/RXRαS427F/Y impairs CD8+ T-cell infiltration and confers partial resistance to immunotherapies. Our study reveals a class of tumor cell-intrinsic “immuno-oncogenes” that modulate the immune microenvironment of cancer. Biomarker strategies for evaluating the role of PPARγ on the tumor microenvironment will be discussed.

11:40 Development of a Companion Diagnostic Assay, Challenges and Lessons Learned

Sihem Khelifa, M.D., FCAP, Pathologist Consultant, Roche US Medical and Scientific Affairs

In the era of precision medicine, IHC plays a more important and ever-changing role than before. Is it possible to develop a prognostic marker that can also be predictive? Using a novel biomarker, the nuances of developing a companion diagnostic assay in addition to the many challenges and lessons learned will be discussed.


Additional Panelist: Cary D. Austin, M.D., Ph.D., Senior Pathologist, Pathology, gRED, Genentech, Inc.

  • How does personalized medicine affect the drug development process?
  • Tissue vs. blood samples - Will liquid biopsy supersede tissue biopsy?
  • Analyzing samples using functional assays for molecular information
  • Future direction of combining immunotherapy and targeted therapy

12:30 Session Break

12:40  Enjoy Lunch on Your Own

1:10 Dessert Break in the Exhibit Hall and Last Chance for Poster Viewing


1:50 Chairperson’s Remarks

Michael N. Liebman, Ph.D., Managing Director, IPQ Analytics, LLC; Professor, Drexel College of Medicine; Professor, Wenzhou First University Medical School

2:00 Pharma and Physician Perspective - The Future of Drug Development and Health Care

Charles E. Barr, M.D., MPH, Group Medical Director & Head, RWE Strategy & External Relationships, US Medical Affairs, Genentech

Science advances the knowledge of disease mechanisms, enabling the creation of transformative therapies. However, both health care and drug development face serious challenges including unsustainable growth in costs. Feasible solutions will require new ways for patients, physicians and researchers to leverage advanced technologies to accelerate both research and health care cost-effectively.

2:30 Healthcare Perspective – Limitations of Big Data Approaches and Clinical Needs

Hal Wolf, Director and Practice Leader for Information and Digital Health Strategy, The Chartis Group

Genomics has quickly become a wide and broad topic capturing both the academic and consumer medical/health models. But the access to meaningful big data sets that can be turned into useful knowledge and the lack of clear medical needs has left many approaches at a crossroads on how to proceed. Where will genomics set path and what are the dependencies to support its useful integration into the healthcare eco-system?


Moderator: Michael N. Liebman, Ph.D., Managing Director, IPQ Analytics, LLC; Professor, Drexel College of Medicine; Professor, Wenzhou First University Medical School

  • Complexity of disease(s): Disease stratification; limitations in diagnosis
  • Complexity of patients: Clinical history; co-morbidities; genomics
  • Clinical guidelines: Quality of guidelines; compliance
  • Trial populations vs. real world patients
  • Translation of clinical trial results into clinical practice
  • Unmet vs. unstated unmet clinical needs

3:30 Session Break


3:40 Chairperson’s Remarks

James J. Hickman, Ph.D., Professor, NanoScience Technology Center, University of Central Florida

3:45 Human-on-a-Chip Systems for Precision Medicine Applications

James J. Hickman, Ph.D., Professor, NanoScience Technology Center, University of Central Florida

Our research focus is to integrate microsystems fabrication technology with cellular components to fabricate mechanically and electronically interactive functional multi-organ systems. We have established systems for motor control, muscle function, metabolism, barrier function, cognitive function, cardiac subsystems and diseases such as cancer and neurological deficits. Examples of advanced human-on-a-chip systems and the results of six workshops held at NIH for what is needed for validation and qualification of these systems will be presented.

4:15 Microphysiological Systems for Research in Industry

Kristin Fabre, Ph.D., Drug Safety and Metabolism, Microphysiological Systems Lead, AstraZeneca

Development of diverse microphysiological systems (MPS) holds much promise for studying adverse drug responses and efficacy in human-based in vitro models. Consequently, demonstration of MPS capabilities has captured the interest of industry, including AstraZeneca. Therefore, we have made significant strides, working with MPS developers, industry and government on identifying strategies on how best to test and implement these technologies into active R&D projects. The purpose of this presentation will illustrate how we have put this strategy into practice, highlighting AstraZeneca-MPS examples.

4:45 The NIH Microphysiological Systems (MPS) Program: Organs-on-Chips for Drug Development and Disease Modeling

Danilo A. Tagle, Ph.D., Associate Director for Special Initiatives, National Center for Advancing Translational Sciences, NIH

The NIH MPS program is developing alternative approaches for more reliable readouts of toxicity or efficacy. Tissue chips are bioengineered systems utilizing chip technology and microfluidics that mimic tissue cytoarchitecture and functional units of human organs. These microfabricated devices are useful for modeling human diseases, and for studies in precision medicine and environment exposures.

5:15 Close of Conference Program

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