Registration Desk Opens, Continental Breakfast Available
Introductions, Welcome, Tour of conference app
Shaping the Future of Precision Oncology and the Role of the Patient
Kathy Giusti, M.B.A., Multiple Myeloma Research Foundation
Towards Precision Medicine
Euan A. Ashley, M.R.C.P., D.Phil., Stanford
Break with Refreshments
Improving Outcomes Through Clinical Implementation of Pharmacogenetics
Julie A. Johnson, Pharm.D., University of Florida College of Pharmacy
The Precision Medicine Initiative: An Update and the Vision
Kathy Hudson, Ph.D., National Institutes of Health (NIH)
Lunch & Presentation
Genomic Medicine Programs of the NHGRI
Teri Manolio, M.D., Ph.D., National Human Genome Research Institute, National Institutes of Health
Concurrent Session 1A Pharmacogenomics in Your Practice
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.
Concurrent Session 1B The New Frontier - Next Generation Sequencing Based Microbial Diagnostics
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.
Concurrent Session 1C Novel Genetic Applications with Potential to Transform Healthcare
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.
Concurrent Session 1D Precision Medicine Initiative: From Implementation to Impact
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.
Break with Refreshments
Concurrent Session 2A Utility of Genetic Testing: Promises and Pitfalls
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.
Concurrent Session 2B Early Career Investigators in Precision Medicine Supported by the Brandt Family Scholars Fund
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.
Concurrent Session 2C Functional Studies to Disambiguate Variants of Uncertain Significance in Clinical Testing
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.
Concurrent Session 2D Pharmacogenomics Guidelines: International and US Perspectives
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
Informatics to Implement Genetic Tests in the Medical Record
“Incorporating the Dutch Pharmacogenetics Working Group (DPWG) Pharmacogenetic Guidelines into Clinical Practice and the Electronic Health Record”
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
Poster Session Reception, Light Hors d’ Oeuvres and Beverages Available
Registration Desk Opens, Continental Breakfast Available
The 100,000 Genomes Project
Mark Caulfield, FMedSci, Genomics England
Genomes, Autism, and more Genomes
Stephen W. Scherer, Ph.D., D.Sc., University of Toronto McLaughlin Centre & Centre for Applied Genomics at SickKids
Break with Refreshments
Concurrent Session 3A Clinical Genomics Management: From the Patient Perspective
This session is a guided tour through how to discuss initial testing and deliver testing results for the medical professional. Genetic counselors are essential to genomic care delivery and will review clinical experience with cancer testing discussions as well as whole exome sequencing.
Concurrent Session 3B Applying Pharmacogenomics: Changing Practice, Changing Lives
In this session, speakers from both the Clinical Pharmacogenetics Implementation Consortium (CPIC) and Dutch Pharmacogenetics Working Group Pharmacogenetic (DPWG) converge again to present examples of how pharmacogenomics has been implemented into the practice.
Concurrent Session 3C Transforming Patient Care with Microbiome Research
This session focuses on the advances in technology and methods in microbiome research and their application in improving human health. We will learn about novel methods of predicting and testing the function of bacteria within our gut and their application using synthetic biology to develop the next generation probiotics.
Concurrent Session 3D Advances in Genomic Laboratory Medicine
Panel-based targeted NGS testing for inherited disorders is now well-established clinically and the diagnostic benefits of this type of testing are widely appreciated. Cancer NGS panels are also known to be of benefit clinically and are in fairly widespread use, but the specific advantages to individualized cancer management may not be well-understood by many. In this session, experienced individuals will discuss the mainly unchartered territory of more novel approaches for NGS-based testing including virtual panels from whole-exome as well as whole genome sequencing. We will further highlight the exciting example of NGS testing for colorectal cancer and how this is already changing therapy decisions and personalized patient management.
Concurrent Session 4A Genomic Case Review with the Experts
This session will demonstrate the power of genetics and genomics in the clinic by showing how patient care has been impacted and discoveries have been made to improve the quality of patient care.
Concurrent Session 4B Predictive and Consumer Genomics
In this session experts in the field will present on the current status of NGS approaches to better delineate the predictive value of genomics in health including direct consumer genomics.
Concurrent Session 4C Cancer and Precision Medicine
This session will focus on the application of genomics in the care of cancer patients. Ongoing efforts and results will be discussed in the context of the applicability of the investigators experiences to chart a course for the growing role of genomics in cancer management. Topics covered will include genomic predictors of response to immunotherapy, genomically driven clinical trial design, model systems for laboratory testing of genomic hypotheses, challenges to the clinical application of genomic testing, and strategies for maximizing the clinical benefit of testing.
Concurrent Session 4D Epigenomics to Therapy: Emerging Agents
Epigenomics is a rapidly emerging scientific discipline which seeks to define how gene transcription and genome activity are regulated in health and disease including cancer. Once considered undruggable, transcriptional and epigenetic mechanisms including “writers”, “readers” and “erasers” of DNA and histone marks are now important targets of drug development, with an ever-increasing number of compounds entering clinical trials. In this session, scientists from the pharmaceutical industry will review emerging epigenetic drug targets, promising new agents in the drug development pipeline, advances in the understanding of these agents’ mechanisms-of-action and experience from ongoing clinical trials.
Break with Refreshments
Systems Medicine and P4 Medicine: Transforming Healthcare Through Wellness
Consumer Genomics Panel Discussion
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In collaboration with the Minnesota Tumor Foundation, University of Minnesota and Children’s Hospital of Minnesota
Epigenomics and Microbiome Poster Session
Workshop Sessions with a Break
Bio-Marker Discovery TIGER-Bio: The Integrated Genome-analysis Enabled Response Biomarker Program
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.
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.
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.
Epigenomics Epigenomics: Bridging the Translational Gap
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.
Microbiome All You Need Is Bugs
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.
Pharmacogenomics (PGx) Applying PGx with the Clinical Pharmacogenetics Implementation Consortium (CPIC) and the Dutch Pharmacogenetic Work Group (DPWG)
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)
Set the Stage – Background
Clinical and Research Application