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Cambridge Healthtech Institute’s Second Annual
Genomics in Medicine
Establishing a Patient-Centric View of Genomic Data
Part of the 21st Annual Molecular Medicine Tri-Conference

February 13-14, 2014 | Westin St. Francis | San Francisco, CA

Cambridge Healthtech Institute's Second Annual Genomics in Medicine symposium will provide insight into common implementation issues as they relate to practicing clinicians, as well as address the evolving role of genomics in guiding diagnoses and treatments. Special focus will be given to processing and delivering complex data to the practicing physician. Integration of decision-making tools with existing patient records will also be discussed. This symposium will provide a forum for those hoping to learn more about genomic medicine as well as those currently practicing and looking for an update on the field's latest advances.

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Thursday, February 13

7:30 am Registration and Morning Coffee


9:00 Chairperson’s Opening Remarks

Jonathan Hirsch, Founder & President, Syapse


Incidental Findings in Genomic Medicine: The Debate and the Data

Robert C. Green, M.D., MPH, Director, G2P Research Program; Associate Director, Research, Partners Center for Personalized Genetic Medicine, Division of Genetics, Department of Medicine, Brigham and Women’s Hospital and Harvard Medical School

Genomics is being rapidly integrated into medicine with many unanswered questions about how and how much risk information should be communicated, and how such information will influence physician and patient behaviors, health outcomes and health care costs. This presentation will summarize data from over 10 years of experimental work in translational genomics and health outcomes, discuss recent ACMG recommendations for incidental findings and preview results from our newest NIH-funded studies, the ongoing MedSeq Project and the recently funded BabySeq Project.

9:35 Genomic Medicine Implementations for Primary Care

Erwin Bottinger, M.D., The Irene and Dr. Arthur Fishberg Professor of Medicine; Director, The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine, Mount Sinai

Increasingly, genomic discoveries provide opportunities to personalize medication use and prediction and prevention of common chronic diseases. However, effective integration of genomic medicine in busy primary care practices is hampered by multiple barriers, including provider education gaps and negative impact on clinical workflow. Innovative programs for real-time, point-of-care integration of genomic medicine for primary care providers through genome-informed clinical decision support enabled in electronic health records will be presented.

10:05 Ethical Issues Related to the Return of Incidental Findings in Children/Families

Ingrid A. Holm, M.D., MPH, Director, Phenotyping Core, Program in Genomics, Divisions of Genetics and Endocrinology, Boston Children's Hospital

10:35 Coffee Break with Exhibit and Poster Viewing


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11:05 Reducing the Complexity of Clinical Omics Reporting for Clinicians and Laboratories

Jonathan Hirsch, Founder & President, Syapse

Syapse has built a cloud-based software platform that enables the use of omics at the point of care through an interactive web portal. We will describe how clinical omics labs use the Syapse platform to maintain an evolving omics knowledgebase which drives updated clinical reporting through interactive, intuitive interfaces designed for ease of use and comprehension. We will describe how hospitals use the Syapse platform to place omics results in the context of clinical guidelines, enabling physicians to easily adopt and integrate omics into their clinical workflow.

11:35 Beyond Sequence: Integration of Full-Genome Technologies for Personalized Medicine in the Clinic

Raphael Lehrer, Ph.D., Founder and Chief Scientist, GeneKey

Here we describe how we have used a combination of multiple full genome technologies to triangulate on key dysregulated mechanisms in a patient’s sample. By using a combination of systems biology and statistical analysis, we are able to draw conclusions far more precise than one could from sequence alone. We describe how we have applied in the clinic with patients and their oncologists and what we have seen/learned to date, including cases where the dysfunction is not mutation-based.

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12:05 pm Targeted NGS of Clinical Samples: Overcoming the Challenges of Obtaining High Quality Data from Low Quality DNA

Diane Ilsley, Ph.D., Marketing Manager, Genomic Services, Asuragen

12:35 Luncheon Presentation (Sponsorship Opportunity Available) or Lunch on Your Own

1:05 Session Break


1:50 Chairperson’s Remarks

Marcia K. Horn, Esq., President and CEO, ICAN

1:55 Genome Sequencing in the Clinic: Found the Variants - Now What?

Jennifer Friedman, M.D., Associate Clinical Professor, Neurosciences and Pediatrics, UCSD/Rady Children's Hospital San Diego

Advances in genome sequencing hold tremendous promise for providing answers and tailored therapies for undiagnosed patients. How to interpret, transmit and act upon volumes of complex data remains a challenge for sequencing providers, physicians and their patients. This presentation will use case-based examples to demonstrate promises and pitfalls encounter along the way.

2:25 The Answer is There but I Don’t Understand It: Solutions from the Front Line

Vanya Gant, Ph.D., FRCP, FRCPath, Divisional Clinical Director for Infection, The Department of Microbiology, UCLH NHS Foundation Trust

This talk will introduce the concept and fundamental problem of how to present complex NGS datasets to clinicians – and how this will be critical for rapid uptake. A case study outlining the principles behind a very new and innovative pathology project and way of delivering healthcare diagnostics will also be presented.

2:55 Refreshment Break with Exhibit and Poster Viewing

3:25 Using a Patient’s Genetic Information in the Real World

Michael Christman, Ph.D., President and CEO, Coriell Institute for Medical Research

When a patient needs a new prescription, it will be necessary for the physician to quickly and securely access his/her genetic data to understand drug efficacy prior to dosing. Who will patients and doctors trust to store and interpret the data? Coriell and the CPMC research study have defined several of the key barriers to accelerate the adoption and routine use of genomics in medicine and have proposed solutions that are generally applicable.

3:55 Developing Clinical Sequencing Assays at Einstein-Montefiore

Cristina Montagna, Ph.D., Associate Professor, Genetics, Albert Einstein College of Medicine

We developed a program to introduce Next-Generation Sequencing (NGS) to address the needs of individuals receiving clinical care at Montefiore Medical Center. After extensive dialogue with clinicians, we designed a custom gene panel, spanning 5Mb and consisting of 650 genes targeting known Mendelian loci, some pediatric diseases and several hotspot genes in various cancer types. By building a basic infrastructure for transitioning NSG in the clinic we have encountered roadblocks and established protocols to overcome these.

4:25 Breakout Discussions

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.

Bridging the Gap between Research and Treatment

Moderator: Marcia K. Horn, Esq., President and CEO, ICAN

  • How can we better identify cancer drivers for individual tumors? How do we pinpoint which clinically relevant alterations are actually driving the tumor?
  • Is targeted therapy all that it's promised to be? How can we increase the efficacy of targeted therapies? Utilization of multiple targeted therapies? Incentives for pharma/biotech firms to work together on multiplexing? What is the future beyond targeted therapies?
  • Education of clinicians and physicians. How do we increase the utility of diagnostic tests when the technologies for detecting mutations and alterations in cancer are far ahead of the ability to identify clinically actionable uses for these tests. What barriers remain that suppress clinicians' reliance on molecular profiling tests, e.g., waiting for position papers from physician groups, legal concerns, heavy burden of learning how to utilize this information?
  • How can patient advocacy groups work together with pharma/biotech to advance drug development? Fund pre-clinical and clinical research programs of interest to the advocacy group? Provide access to patients for enrollment in clinical trials? Utilize patient knowledge to identify clinically relevant endpoints in clinical trials, and to inform drug development teams of disease-specific treatment problems that they can incorporate into clinical trials?
  • Reimbursement issues- Do new reimbursement levels for MDx tests take the decision making of what test to use out of the hands of patients and clinicians? Is the denial of reimbursement for algorithms going to hurt patient care? What can we prospectively build into the reimbursement process?
  • Patient privacy. Is it all that privacy advocates make it out to be, especially for advanced and critically ill patients, or is it a hindrance to new research?

Promises and Pitfalls of Genome Sequencing in the Clinic

Moderator: Jennifer Friedman, M.D., Associate Clinical Professor, Neurosciences and Pediatrics, UCSD/Rady Children's Hospital San Diego

  • Strategies to interpret, transmit and act upon volumes of complex data
  • Providing answers and tailored therapies for undiagnosed patients
  • Getting the most out of NGS data

5:25 Close of Day

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