Wednesday, October 5, 2016

  • 7:00 AM

    Registration Desk Opens, Continental Breakfast Available

  • 8:00 AM - 8:30 AM

    Introductions, Welcome, Tour of conference app

    Cathy Wurzer, Minnesota Public Radio (Moderator)
    Keith Stewart, M.B., Ch.B., Mayo Clinic

  • 8:30 AM - 9:15 AM

    Shaping the Future of Precision Oncology and the Role of the Patient

    Kathy Giusti, M.B.A., Multiple Myeloma Research Foundation

  • 9:15 AM - 10:00 AM

    Towards Precision Medicine

    Euan A. Ashley, M.R.C.P., D.Phil., Stanford

  • 10:00 AM - 10:30 AM

    Break with Refreshments

  • 10:30 AM - 11:15 AM

    Improving Outcomes Through Clinical Implementation of Pharmacogenetics

    Julie A. Johnson, Pharm.D., University of Florida College of Pharmacy

  • 11:15 AM - 12:00 PM

    The Precision Medicine Initiative: An Update and the Vision

    Kathy Hudson, Ph.D., National Institutes of Health (NIH)

  • 12:15 PM - 12:50 PM

    Lunch & Presentation

    Genomic Medicine Programs of the NHGRI

    Teri Manolio, M.D., Ph.D., National Human Genome Research Institute, National Institutes of Health

  • 1:00 PM - 2:30 PM

    This session will give a brief overview of Pharmacogenomic (PGx) concepts as well as an introduction to Mayo Clinic’s PGx Profile Service. The session will also include a case- based approach to explain the significance of PGx testing and its correlation to clinical practice.

  • 1:00 PM - 2:30 PM

    The advent of next generation sequencing and rapid decline in cost has democratized the study of host-microbe interactions. The terabytes of data generated as a result will have potential impact on human health. In this session, we will focus on the clinical applications of next generation sequencing technology and how it has the ability to transform clinical practice. Applications of this new technology include microbial identification, bacterial resistance and virulence profiling, hospital infection surveillance, and diagnosis of hitherto undiagnosed infections, just to name a few. As we face this new friend, it is important to understand both the challenges and benefits that lie ahead of us.

  • 1:00 PM - 2:30 PM

    New genomic technologies are being developed that have the capability of totally transforming clinical practice. Much of what has been driving this has been advances in DNA sequencing, but there are other technologies that could also drive dramatic advances in the clinic. During this session, some of the most exciting, novel, potentially transformative applications will be discussed, including advances in NGS Platforms, mate pair NGS, gene editing, and genome-based wellness as a lifelong health resource.

    • NGS Platforms - Where We Are and Where We’re Going David Smith, Ph.D. (Moderator)
    • The Clinical Cytogenetic Applications of Mate-Pair Sequencing Robert Jenkins, M.D.
    • Gene Editing/CRISPR-Cas9 as Powerful Clinical Tools David Bauer, M.D., Ph.D.
    • How to Utilize Genome Tools to Better Inform Patient Wellness Robert Rountree, MD
  • 1:00 PM - 2:30 PM

    The NIH Precision Medicine Initiative (PMI) aims to advance understanding of disease and shepherd in a new era of individualized medicine by building a national research cohort of one million or more participants. The information from this PMI Cohort Program will leverage advances in genomics, emerging methods for managing and analyzing large data sets while protecting privacy, and health information technology to accelerate biomedical discoveries. Speakers in this session will discuss practical research applications, opportunities to advance the science of minority health and health disparities, and address implementation barriers and potential solutions.

  • 2:30 PM - 2:45 PM

    Break with Refreshments

  • 2:45 PM - 4:15 PM

    This session will describe how advances in genetic testing have transformed the Medicial Genetics practice while also introducing unforeseen issues. Common disease testing, pre-natal diagnostics and rare disease testing will be discussed in this session.

  • 2:45 PM - 4:15 PM

    As a fairly new and quickly advancing field, individualized or precision medicine needs to attract students into the field to grow research in individualized medicine and develop the clinicians who will help translate individualized medicine into patient care. This session offers an opportunity for early career investigators to present on their Precision Medicine research topics and outcomes of the research.

    • Timothy B. Curry, M.D., Ph.D. (Moderator)
    • Implementation of Pharmacogenetics at Cincinnati Children’s Hospital Medical Center: 12 Years of Successful Personalized Medicine” Laura Ramsey, Ph.D.
    • Utilization of RNA-Sequencing in a Diagnostic Odyssey Case to Confirm Pathogenicity of Splice Variants Identified by Whole Exome Sequencing Nicole Boczek, Ph.D.
    • Homozygous missense mutation in Procollagen-Lysine, 2-Oxogluarate 5-Dioxygenase 2 (PLOD2) gene compatible with clinical phenotype Bruck syndrome type 2 (BRKS2) Chelsea Gawryletz, D.O.
    • Shifts in the fecal microbiota associated with adenomatous polyps suggest a link between diet, gut microbes, and colorectal cancer Vanessa Hale, Ph.D.
    • Data-Driven Deep Analytics for Precision Medicine Arjun Athreya
    • Identifying Molecular Biomarkers for Cyptococcosis-associated Immune Reconstitution Inflammatory Syndrome Irina St. Louis, M.D., Ph.D.
  • 2:45 PM - 4:15 PM

    One major challenge currently facing the field clinical genomics is the interpretation of variants of uncertain significance and the discernment of their role, if any, in the etiology of a patient’s condition.  This is being addressed in several ways, including improving in silico predictions of pathogenicity, protein modeling to better describe the impact of a non-synonymous variant on protein structure and function, as well as, the creating highly curated clinical sequencing databases to enable the identification of variant to phenotype associations. This session will explore the use of laboratory-based functional genomics and disease modeling to characterize the impact VUSs on protein function and disease.  The speakers are all engaged in functional studies associated with large clinical/academic sequencing centers and have built programs to support interpretation of uncertain findings.

  • 2:45 PM - 4:15 PM

    Speakers from both the Clinical Pharmacogenetics Implementation Consortium (CPIC) and Dutch Pharmacogenetics Working Group Pharmacogenetic (DPWG) gather to discuss key principles in implementing pharmacogenomics into the clinical practice. As both CPIC and DPWG will illustrate, a key part of the process is guideline development as well as the use of informatics.

    Incorporating the Clinical Pharmacogenetics Implementation Consortium (CPIC) Guidelines into Clinical Practice and the Electronic Health Record

    Kelly E. Caudle, Pharm.D., Ph.D., B.C.P.S.

    Informatics to Implement Genetic Tests in the Medical Record

    Robert R. Freimuth, Ph.D.

    “Incorporating the Dutch Pharmacogenetics Working Group (DPWG) Pharmacogenetic Guidelines into Clinical Practice and the Electronic Health Record”

    Vera H.M. Deneer, Pharm.D., M.D.

  • 4:15 PM - 4:30 PM


  • 4:30 PM - 5:15 PM

    To Use or Not to Use:  Clinical Application of Genetic Risk Scores in Age-Related Macular Degeneration

    Jonathan L. Haines, Ph.D., Case Western Reserve University

  • 5:15 PM - 7:15 PM

    Poster Session Reception, Light Hors d’ Oeuvres and Beverages Available

Thursday, October 6, 2016

Friday, October 7, 2016

  • 8:00 AM - 5:00 PM

    Minnesota Neurofibromatosis Symposium and Upper Midwest Clinical Genetics Conference

    In collaboration with the Minnesota Tumor Foundation, University of Minnesota and Children’s Hospital of Minnesota

  • 7:00 AM - 8:00 AM

    Continental Breakfast

  • 7:00 AM - 8:00 AM

    Epigenomics and Microbiome Poster Session

    Click here for abstract submission information.

  • 8:00 AM - 12:30 PM

    Workshop Sessions with a Break

  • 8:00 AM - 12:30 PM

    Learn about the TIGER-Bio biomarker development pipeline. Many tumors have multiple mutations, and it is often not clear which mutation or combination of mutations is most critical. TIGER-Bio uses multiple genetic profiling platforms, integrates bioinformatic analysis within and across patient data sets, validates biomarker targets for test development, and uses interpretive tools to synthesize and present complex data into easy to understand reports.

    Targetable treatments – from biomarker discovery to clinical testing Learn about how the TIGER-Bio methodology can discover biomarkers and rapidly develop targetable biological pathways into clinically-available tests.


    • Mitesh Borad, M.D.
    • Genomically Characterized PDX Models for Target Evaluation
      Mark Truty, MD, MS

    Three-Dimensional Cell Model Systems – individually-derived patient cell models Learn about innovative approaches to derive individual patient tumor cell models to rapidly test potential treatments in vitro.


    • Panagiotis Z. Anastasiadis, Ph.D.
    • Circulating Nucleic Acids in Cancer for Diagnosis, Prognosis, and Prediction
      Minetta C. Liu, M.D.

    From MatePair Sequencing to Integrated Genomics Learn how the foundation of MatePair Sequencing and other innovative approaches can accelerate an integrated genomic evaluation – for biomarker discovery and for potential future individualized patient assessment for treatment.


    • George Vasmatzis, Ph.D.
    • Interactomics: Computational Analysis of Novel Drug Opportunities CANDO
      Ram Samudrala, Ph.D.
  • 8:00 AM - 12:30 PM

    Epigenomics is a rapidly emerging scientific discipline concerned with the global regulation of genome activity including gene transcription, DNA replication and repair. Recent developments in the understanding of epigenetic mechanisms and their role in producing distinct normal and diseased phenotypes, together with advances in epigenomic technology and pharmacology have led to accelerated translation of epigenetic concepts and findings to clinical tests, disease biomarkers and drugs. In this session, leading scientists from diverse backgrounds will discuss how fundamental and clinical research can inform each other in support of creating diagnostic and therapeutic tools of the future.


  • 8:00 AM - 12:30 PM

    Join us for a half-day workshop as we explore the interface between the microbiome and human health. Attendees will obtain state-of-the-art information regarding gut microbial ecology and it relevance in human health with emphasis on functional aspects of the microbiome and their role in causing disease.


  • 8:00 AM - 12:30 PM

    After participating in this workshop, participants will be better equipped to implement pharmacogenomics in a variety of health care settings. They will understand how to use PGx guidelines to facilitate implementation of pharmacogenomics testing.

    Speakers with experience leading the implementation of pharmacogenomics will provide practical guidance on a range of topics, including forming a team, selecting a testing platform, drug/gene selection, informatics, and economic aspects.

    Richard Weinshilboum, M.D. (Moderator)

    7:50AM Introductions & Welcome

    Set the Stage – Background

    8:00AM What Genes to Implement and How CPIC Prioritizes Gene/Drug
    Kelly E. Caudle, Pharm.D., Ph.D., B.C.P.S.
    8:20AM Pharmacogenomic Testing Options: Pre-emptive vs Reactive. Clinical Pharmacogenetic Testing Cost and Reimbursement
    Stuart Scott, Ph.D.
    8:40AM DPYD Testing: Implementation in Routine Clinical Care
    Jesse Swen, Pharm.D., Ph.D.

    Clinical and Research Application

    9:00AM Education-Clinician and Patient
    Kelly E. Caudle, Pharm.D., Ph.D.
    9:20AM PGx: A Next Step Into the Future
    Prof Magnus Ingelman-Sundberg
    9:55AM Panel Discussion
    Kelly E. Caudle, Pharm.D., Ph.D., Prof Magnus Ingelman-Sundberg, Jesse Swen, Pharm.D., Ph.D. & Stuart Scott, Ph.D.
    10:15AM Break with Refreshments


    10:30AM Organization of a Clinical PGx Service and its Dilemmas
    Vera H.M. Deneer, Pharm.D., M.D.
    10:50AM Hospital-wide Implementation vs. Implementation to Just Specialty Groups
    Peter Hulick, M.D.
    11:10AM Clinical Pharmacogenetic Testing Cost and Reimbursement
    Stuart Scott, Ph.D.
    11:30AM Challenges of Implementation in the Digital World
    Robert R. Freimuth, Ph.D.
    11:50AM Panel Discussion
    Robert R. Freimuth, Ph.D., Peter Hulick, M.D., Prof Magnus Ingelman-Sundberg, Stuart Scott, Ph.D. & Jesse Swen, Pharm.D., Ph.D.
    Vera H.M. Deneer, Pharm.D., M.D.
    Curated Questions for discussion from the moderator, each speaker answers, as well as questions from the audience
    12:15PM Adjourn