TCGC: Clinical Genome ConferenceTCGC: Clinical Genome ConferenceTCGC: Clinical Genome Conference
2014 Archived Content

TCGC: The Clinical Genome Conference

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Short Courses | Download Brochure | Speaker Biographies 

 

Thursday, June 12

8:00 am Morning Coffee

 

NGS References and Standards Are Not Static 

8:30 Chairperson’s Opening Remarks

Elissa Levin, MS, CGC, Head, Genomics and Integrative Health Innovations; Assistant Professor, Genetics and Genomic Sciences, Icahn Institute for Genomics and Multiscale Biology, Mount Sinai School of Medicine

8:35 Making Sense of Updates to the Human Reference Genome Assembly

Valerie SchneiderValerie A. Schneider, Ph.D., Staff Scientist, National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health

Podcast

The human reference genome assembly, whose sequence was first published more than a decade ago, is not static. The Genome Reference Consortium (GRC) manages updates to the reference assembly that reflect our improving understanding of genomic biology and recently released a major assembly update, GRCh38. This talk will review updates to the reference assembly and discuss their implications for sequence analysis, variant identification and clinical interpretation. In addition, NCBI-developed tools that assist users with interrogation and visualization of the assembly will also be discussed.

9:05 Genome in a Bottle: Reference Materials to Enable Translation

Marc SalitMarc Salit, Ph.D., Group Leader, Biochemical Science and Multiplexed Biomolecular Science, National Institute of Standards and Technology (NIST)

The Genome in a Bottle Consortium has been developing reference materials, data and methods to support translation of sequencing to regulated clinical practice. These materials and data played a key role in the first FDA authorization of a “next-generation” DNA sequencer, bringing this technology into a new era of clinical care. We will present a perspective on the consortium projects and products, and a projection for future genomic references.

9:35 Standardizing Variant Files for Clinical Diagnostics

Karen EilbeckKaren Eilbeck, Ph.D., Associate Professor, Biomedical Informatics, University of Utah

While variant files are the currency for personal genome information, there exists much polymorphism in how the variant file formats are implemented, making sharing and comparison difficult between labs. The CDC convened a work group to provide recommendations for standard variant file practices for clinical diagnostics. This work and the group’s recommendations will be presented.

10:05 Coffee Break in the Exhibit Hall with Poster Viewing

 

Interpretation and Translation to the Client 

10:45 Making Meaning of Genomic Data: Clinical Interpretation and Communication

Julianne O’DanielJulianne M. O’Daniel, MS, CGC, Assistant Professor, Genetics, University of North Carolina at Chapel Hill

Genome sequencing has been rapidly adopted for use in complex genetic diagnoses. The ability to cast such a broad net for analysis, however, raises questions about clinical interpretation and identifying “best fit” variant(s) based on current knowledge and phenotype data. Decisions must be made about what to report and why in terms of diagnostic and/or incidental findings. We will highlight salient issues in clinical interpretation from test definition and variant interpretation to patient expectations and understanding.

11:15 Interpreting and Communicating the “Healthy” Genome

Elissa LevinElissa Levin, MS, CGC, Head, Genomics and Integrative Health Innovations; Assistant Professor, Genetics and Genomic Sciences, Icahn Institute for Genomics and Multiscale Biology, Mount Sinai School of Medicine

Most genome sequencing to date has focused on rare disease or diagnostic odyssey cases. But how will this technology impact the average person? And how are providers expected to keep up with and accurately communicate genomic data in the context of their patients? We will discuss some of the challenges with interpreting WGS in “healthy people” and some approaches to positively impacting the delivery of genomic information to both providers and patients.

11:45 PANEL DISCUSSION: Who Is the Client and What Should Be Returned?

Genome sequencing technologies have enabled greater and faster genetic data collection for diagnostics—but what information should providers report to their clients and how should they translate it to patient needs? This panel of genetic counseling experts will discuss challenges of interpreting variants, incidental findings and other data, plus strategies for facilitating communication between and ensuring comprehension by providers and patients.

Moderator: Allison Byrum Proffitt, Editorial Director, Bio-IT World

 

Panelists:

Jill HagenkordJill Hagenkord, M.D., CMO, 23andMe, Inc.

 

Shannon KieranShannon Kieran, MS, LCGC, MBA, Clinical Programs Senior Manager, Life Sciences Solutions, Thermo Fisher Scientific

 

NElissa LevinElissa Levin, MS, CGC, Head, Genomics and Integrative Health Innovations; Assistant Professor, Genetics and Genomic Sciences, Icahn Institute for Genomics and Multiscale Biology, Mount Sinai School of Medicine

 

Julianne O’DanielJulianne M. O’Daniel, MS, CGC, Assistant Professor, Genetics, University of North Carolina at Chapel Hill

 

Erica RamosErica Ramos, MS, CGC, Clinical Genomics Specialist, Certified Genetic Counselor, New and Emerging Opportunities, Illumina, Inc.

 

12:30 pm Luncheon Presentation (Sponsorship Opportunity Available) or Enjoy Lunch on Your Own

 

Integrating Genomic Data into the Clinic 

1:30 Chairperson’s Remarks

Fred Lorey, Ph.D., Representative, North American Council, International Society for Neonatal Screening; Member, U.S. Department of Health and Human Services Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC); former Acting Director, California Genetic Disease Screening Program, California Department of Public Health

1:35 Introducing Pharmacogenomics into Primary Care and Cardiology Settings: How Will Clinicians Respond?

Josh PetersonJosh F. Peterson, M.D., MPH, Assistant Professor, Biomedical Informatics and Medicine, Vanderbilt School of Medicine, Vanderbilt University

Digital representations of the human genome and its derivatives within electronic and personal health records are a foundation for 21st-century medicine, creating a new biological approach to more precise, targeted clinical decision making at the point of care. However, numerous translational challenges have hindered adoption, involving technical infrastructure, feasibility, demonstration of clinical effectiveness and sustainability. This talk will highlight how the development and implementation of a large pharmacogenomics program has addressed these challenges, highlighting the health information technology, laboratory and clinical processes which enable the program, and describe how clinicians have responded when presented with pharmacogenomics variants and the option of genome-tailored therapy for their patients.

2:05 Genomics into the Clinic: Ethical and Policy Challenges

David MagnusDavid Magnus, Ph.D., Director, Stanford Center for Biomedical Ethics; Thomas A. Raffin Professor, Medicine and Biomedical Ethics; Professor, Pediatrics, Stanford University School of Medicine

The introduction of next-generation sequencing technology into clinical practice raises many ethical, policy and practical challenges. These include challenges to informed consent, new risks, privacy and issues of control over the disposition of information. In addition to normative analysis, data from early adopters can help shed light on ways of meeting these challenges.

2:35 Whole-Genome Sequence in Newborn Screening - Summary of UCSF NIH Grant

Fred Lorey, Ph.D., Representative, North American Council, International Society for Neonatal Screening; Member, U.S. Department of Health and Human Services Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC); former Acting Director, California Genetic Disease Screening Program, California Department of Public Health

This presentation will describe the overall plan of the University of California San Francisco NIH grant on whole-genome sequencing in newborn screening using NBS dried blood spots. UCSF is one of four grant awardees for this proposal and is working with the California Department of Public Health Newborn Screening Program for NBS samples. The general requirements from the federal agencies will be addressed and progress to date will be presented.

2:50 Refreshment Break, Last Chance for Exhibit and Poster Viewing

3:30 Clinical Genomics in the Era of the EHR: Challenges and Opportunities

Keith MarsoloKeith Marsolo, Ph.D., Associate Professor, Division of Biomedical Informatics, Cincinnati Children’s Hospital Medical Center and Associate Professor, Pediatrics, University of Cincinnati College of Medicine

The electronic health record (EHR) provides a number of potential benefits to the field of clinical genomics, including the ability to return results to the provider, use genetic findings for decision support purposes and serve as a source of phenotypic data. Not all EHR implementations are created equal, however. This talk will provide an overview of the different ways that data can be captured in the EHR, the role that EHR implementation plays on data quality and availability and the potential for integration of genetic findings in today’s EHR. It will conclude with a discussion of the minimum functional requirements that EHRs will need to satisfy in order to serve the field of clinical genomics.

4:00 PANEL DISCUSSION: Digitized Data for Clinical Utility and Primary Care

To ensure that clinical genomic data is useful for the patients it is meant to serve, clinicians must overcome various technical, policy and ethical hurdles while leveraging health information technology. This panel of experts will discuss the electronic health record (EHR): how to integrate genomic data in it, the nature of that data, EHR infrastructure, functional requirements and more.

Moderator: Fred Lorey, Ph.D., Representative, North American Council, International Society for Neonatal Screening; Member, U.S. Department of Health and Human Services Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC); former Acting Director, California Genetic Disease Screening Program, California Department of Public Health

 

Panelists:

Michael DahlweidMichael Dahlweid, M.D., Ph.D., Vice President, GM Portfolio and Product Management, GE Healthcare and Professor for Medical Informatics, Applied Ernst-Abbé University Jena

 

David MagnusDavid Magnus, Ph.D., Director, Stanford Center for Biomedical Ethics; Thomas A. Raffin Professor, Medicine and Biomedical Ethics; Professor, Pediatrics, Stanford University School of Medicine

 

Keith MarsoloKeith Marsolo, Ph.D., Associate Professor, Division of Biomedical Informatics, Cincinnati Children’s Hospital Medical Center and Associate Professor, Pediatrics, University of Cincinnati College of Medicine

 

Josh PetersonJosh F. Peterson, M.D., MPH, Assistant Professor, Biomedical Informatics and Medicine, Vanderbilt School of Medicine, Vanderbilt University

 

4:45 Close of Conference

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Short Courses | Download Brochure | Speaker Biographies