Sunday, September 20
All Sunday pre-conference events take place on the Mayo Clinic campus. Monday-Wednesday conference activities are held at Mayo Civic Center.
12:00 PM - 4:00 PM Patient and Public Symposium
Individualized Medicine in Health Care: What Does it Mean for Me?
• Timothy Curry, MD, PhD, Mayo Clinic
• Matt Ferber, PhD, Mayo Clinic
• Geoffrey Beek, CGC, Mayo Clinic
• Teresa Kruisselbrink, MS, CGC, Mayo Clinic
• Eric Matey, PharmD, RPh, Mayo Clinic
• Svetomir Markovic, MD, Mayo Clinic
3:00 PM - 6:00 PM Conference Check-In
5:00 PM - 7:00 PM Welcome Reception for Conference Attendees
Monday, September 21
7:00 AM - 3:00 PM Registration
7:00 AM - 8:00 AM Breakfast
8:30 AM - 9:15 AM Gianrico Farrugia, MD, Mayo Clinic
9:15 AM - 10:00 AM Patricia LoRusso, DO, Yale Cancer Center
10:00 AM - 10:30 AM Networking Break
11:15 AM - 12:00 PM Stephen Friend, MD, PhD, Sage Bionetworks
12:00 PM - 1:00 PM Lunch
1:00 PM - 2:45 PM Concurrent Session 1A Integrating Tumor Genomics into Clinical Research.
This session will discuss the impact of genomic technology on clinical trial design and biomarker development. We will explore the challenges of designing trials that incorporate genomic knowledge including regulatory considerations, engaging with industry, and establishing the utility of biomarkers.
1:00 PM - 2:45 PM Concurrent Session 1B Predictive Genomics in Clinical Practice
This session will examine the opportunities and challenges of implementing large scale sequencing of healthy people in a clinical practice.
- Konstantinos Lazaridis, MD, Mayo Clinic (Moderator)
- Stephen Friend, MD, PhD, Sage Bionetworks
- Catalina Lopez-Correa, MD, PhD, Genomic Quebec
- “A single payer, Quebec’s experience in Clinical Genomics”
- Ruth Loos, PhD, Mount Sinai Hospital
- “The role of genetic variation in predicting obesity and related metabolic disease - Now and in the future”
1:00 PM - 2:30 PM Concurrent Session 1C Pharmacogenomics: Discovery to Implementation
This session will cover many aspects of pharmacogenomics in the clinical practice including: cardiovascular disease, outcomes analysis from psychiatry, and creative use of medical record data to uncover drug-gene interactions.
1:00 PM - 2:45 PM Concurrent Session 1D Beyond the Exome in Many Directions
Exome analysis has become standard clinical practice in cancer and prenatal testing. This session will provide insights into current and emerging trends in transcriptome analysis, proteomics, and in vivo imaging. Discussion will focus on how developments in each of these fields are poised to enter clinical practice as valuable tools in the pursuit of precision medicine.
- Derek Wildman, PhD, University of Illinois at Urbana-Champaign (Moderator)
- Steven Boppart, MD, PhD, University of Illinois at Urbana-Champaign
- Using Light for Individualized Imaging and Diagnosis at the Point-of-Care
- Jun S. Song, PhD, University of Illinois at Urbana-Champaign
- Unraveling the mechanism of mutant TERT promoter activation across multiple cancer types
- Jim Heath, PhD, California Institute of Technology
- “Single Cell Functional Proteomics for Guiding Personalized Therapy Decisions in Select Cancers”
- Athena Aktipis, PhD, Arizona State University
1:00 PM - 2:30 PM Concurrent Session 1E Industry Perspective for Individualizing Medicine, Part I
- Agena Bioscience
- Robin Everts, Ph.D., Manager, Applications and Technology Support “Actionable Multiplexed Panels for Pharmacogenomic Profiling and Ultra-Sensitive Somatic Mutation Detection Using the MassARRAY® System by Agena Bioscience™”
- Marilyn Olson, PhD, Vice President of Scientific Affairs
- Agena Bioscience
2:45 PM - 3:15 PM Break
3:15 PM - 5:00 PM Concurrent Session 2A Individualizing Cancer Therapy – Hematological Malignancies
This session will discuss application of next- generation sequencing in lymphoid malignancies and explore molecular and immune therapeutic targets for hematological malignancies.
- Naseema Gangat, MBBS and Mrinal Patnaik, MBBS, Mayo Clinic (Moderators)
- Stephen Ansell MD, PhD, Mayo Clinic
- Immunotherapeutic Advances in Lymphomas
- Mrinal Patnaik MBBS, Mayo Clinic
- Epigenetic dysregulation in Myeloid Malignancies – Opportunities for Individualizing Therapy?
- David Weinstock MD, Dana-Farber Cancer Institute
- Curing Hematologic Malignancies: In Mice and Men?
3:15 PM - 5:00 PM Concurrent Session 2B WES & Still No Dx: What is Next for Patients on a Diagnostic Odyssey?
Currently, using whole exome sequencing (WES) for patients with an undiagnosed genetic disease is yielding a diagnosis rate of 25-30%. What can be done to further improve this yield? This session will bring together experts who discuss approaches that look beyond WES testing to help further characterize these remaining unsolved cases.
3:15 PM - 5:00 PM Concurrent Session 2C Genomic Information: Wanting What You Get vs. Getting What You Want
This session will examine the challenges in determining what genomic data is considered reportable in clinical and research settings, consider the extent to which patient requests for genomic data can or should be accommodated in the current medical environment, and define the key ethical and legal tensions in reporting genomic data.
- Richard Sharp, PhD, Mayo Clinic (Moderator)
- Noralane Lindor, MD, Mayo Clinic
- Jennifer McCormick, PhD, Mayo Clinic
- Steven Joffe, MD, MPH, University of Pennsylvania
- Integrating Sequencing Into Cancer Care: Perspectives of Patients and Oncologists
- Wendy Chung, MD, PhD, Columbia University
- You Asked For It, You Got It: Returning Genomic Research Results to Participants
- Holly Tabor, PhD, Seattle Children’s Hospital
- Jennifer Couzin-Frankel, Journalist at Science
- Wading Into the Unknown: A Personal Story of Cancer Genetic Testing
3:15 PM - 5:00 PM Concurrent Session 2D Pharmacogenomics Implementation at the Bedside: What Works, What Doesn’t?
Although pharmacogenomics has been implemented at the bedside, challenges still exist. This session will examine the experiences of different institutions and their production of pharmacogenomics rules, current drugs, laboratory reports, ordering systems, information for prescribing, and staff education. We will discuss these experiences, examine successes, and identify further challenges and solutions.
- Christine Formea, PharmD, BCPS, Mayo Clinic (Moderator)
- Kris Crews, PharmD, FCCP, St. Jude Children’s Research Hospital
- Wayne Nicholson, MD, PharmD, Mayo Clinic
- Pharmacogenomics Implementation at the Bedside: Mayo Clinic Experience
- Josh Peterson, MD, Vanderbilt
- Kristin Weitzel, PharmD, University of Florida College of Pharmacy
3:15 PM - 5:00 PM Concurrent Session 2E Industry Perspective for Individualizing Medicine, Part II
5:00 PM - 7:00 PM Poster Session and Reception
Tuesday, September 22
7:00 AM - 3:00 PM Registration Open
7:00 AM - 8:00 AM Breakfast
8:00 AM - 8:15 AM Welcome
Cathy Wurzer, Minnesota Public Radio
8:15 AM - 9:00 AM Stephen R. Quake, PhD, Stanford
9:00 AM - 9:45 AM Elizabeth Mansfield, PhD, FDA
9:45 AM - 10:15 AM Networking Break
10:15 AM - 11:00 AM Edison Liu, MD, The Jackson Laboratory
• Systems Genomics in Cancer Medicine
11:00 AM - 11:45 AM J. Craig Venter, PhD, J. Craig Venter Institute
11:45 AM - 12:00 PM Plenary Highlights Alex Parker, PhD, Mayo Clinic
12:00 PM - 1:00 PM Lunch
1:00 PM - 2:45 PM Concurrent Session 3A Cell-Free DNA: Efficient Translation of Laboratory Research into Clinical Practice
Tumor specific molecular alterations increasingly plays a part in drug selection and prognosis in cancer. The advent of technologies that allow for the detection of specific mutations in cell free DNA (cfDNA) isolated from the peripheral blood has increased interest in the “liquid biopsy”. This has immediate applications in melanoma and colorectal cancer with the potential for utility in all solid tumor malignancies. cfDNA assays offer a less invasive, potentially more cost effective tool for the early diagnosis of recurrence or as a marker of prognosis and response to treatment. This session will discuss the challenges of validating these molecular biomarkers and provide solutions to promote rapid translation into clinical practice.
- Minetta Liu, MD, Mayo Clinic (Moderator)
- Additional Speakers to be named
1:00 PM - 2:45 PM Concurrent Session 3B The Genomics of Dementia
Alzheimer’s disease and related dementing illnesses are among the greatest health care challenges due to its prevalence, frequency, and ineffective therapy. Multiple genetic risk factors have been identified, yet there remain early onset cases without familial associations. This session will review the known genetic associations of the major dementias, discuss research activity regarding the discovery of additional genetic risk factors, and engage the participants in a survey regarding predictive testing for Alzheimer’s disease.
- Eric Reiman, MD, Banner Alzheimer’s Institute (Moderator)
- Richard Caselli, MD, Mayo Clinic
- Public's Perception of Presymptomatic Testing for Alzheimer’s Disease
- Matthew Huentelman, PhD, Translational Genomics Research Institute
- Nilufer Taner, MD, PhD, Mayo Clinic
- Combined –Omics Approaches in Gene Discovery and Characterization in Alzheimer’s disease
1:00 PM - 2:45 PM Concurrent Session 3C The Role of Individualized Medicine in Value-Based Care
Value-based health care is a patient-centered model that focuses on improving outcomes while reducing costs. Individualized medicine may provide value through more effective, patient-specific therapies and reducing the need for further testing and eliminating ineffective treatments. In this forum, experts in the field on the production of value in individualized medicine will discuss the opportunities and limits of individualized medicine in value-based care. This session will be conducted in conjunction with Mayo Clinic Center for the Science of Health Care Delivery, whose priorities include demonstrating the value of care delivered at Mayo Clinic.
1:00 PM - 2:45 PM Concurrent Session 3D Epigenomics: Path to Clinical Testing
Epigenomics is a rapidly emerging scientific discipline which seeks to define how genes across the entire human genome are turned on and off to produce distinct normal and diseased phenotypes. Recent developments in epigenomic technology and pharmacology have raised the possibility of incorporating epigenomic assays into the clinical diagnostic arsenal as tools to identify and detect novel biomarkers of disease and to support individualized treatment with drugs targeting epigenetic regulators. This session will review ongoing efforts to bring epigenomic testing into the clinic.
- Grzegorz Nowakowski, MD, Mayo Clinic (Moderator)
- Javad Khan, MD, National Institutes of Health
- Tamas Ordog, MD, Mayo Clinic
- Implementing Epigenomic Testing in Individualized Patient Care: The Mayo Clinic Experience
- Raul Urrutia, MD, Mayo Clinic
- The Promise of Epigenomics in Medical Research and Practice
- John B Kisiel, PhD, Mayo Clinic
- Aberrantly methylated DNA for early cancer detection: A journey beyond the colon by next-generation sequencing
- Manolis Kellis, PhD, MIT/Broad Institute
2:45 PM - 3:15 PM Networking Break
3:15 PM - 5:00 PM Concurrent Session 4A Clinical RNA Seq
In this session, participants will learn how RNA-Seq is performed, how to the data is analyzed, and how test results are used clinically in the management of patients with cancer and other disorders
- Kevin Halling, MD, PhD, Mayo Clinic (Moderator)
- Cole Trapnell, PhD, University of Washington Genome Sciences
- “RNA-Seq: Getting to clinical data you can interpret and believe”
- Chris Maher, PhD, The Genome Institute
- Robert Bradley, PhD, Fred Hutchinson Cancer Research Center
- Hidden biases confound leukemia genomics studies
- Kevin Halling, MD, Mayo Clinic
3:15 PM - 5:00 PM Concurrent Session 4B Is There a Genomic Future for Newborn Screening?
Rapidly evolving genomic sequencing technologies promise to provide unprecedented knowledge about genetic diagnoses, drug metabolism, complex disease risk, and carrier status for genetic conditions. Newborn screening is a public health program that aims to reduce mortality and morbidity of infants through the early identification and management of treatable genetic conditions. The application of massively paralleled DNA sequencing technologies to newborns has the potential to change the current newborn screening paradigm. In this concurrent session, national experts will discuss their research on infantile genomic sequencing applications covering neonatal care, the acquisition and analysis of genomic datasets, and the ethical, legal, and social issues related to the implementation of genomic sequencing of newborns.
3:15 PM - 5:00 PM Concurrent Session 4C Case-Based Applications of Genomics in Primary Care
Genomic medicine is emerging at the forefront of improved disease risk assessment and treatment, including drug selection and dosing. As such, primary care providers are already integrating these new approaches into practice. This session will provide case-based applications illustrating the integration of genomic advances in preconception and prenatal testing, predictive genomics, and pharmacogenomics within the primary care setting. The session will provide practical guidance on when and how to use genomic medicine in the primary care setting.
- Matthew Bernard, MD, and Paul Takahashi, MD, Mayo Clinic (Moderators)
- Matthew Bernard, MD, Mayo Clinic
- “Case Based Applications of Genomics in Primary Care”
- Paul Takahashi, MD, Mayo Clinic
- Teresa Kruisselbrink, MS, CGC, Mayo Clinic
- Myra Wick, MD, PhD, Mayo Clinic
- Kristi Borowski, MD, Mayo Clinic
- John Zeuli, PharmD, RPh, Mayo Clinic
3:15 PM - 5:00 PM Concurrent Session 4D Gut Microbiota at the Interface of Health and Disease
The invention of the microscope long ago allowed us to understand how bacteria can cause and transmit infections in people. Now, using genomic sequencing, we are discovering communities of bacteria known as the human microbiome do much more for us than we ever imagined. This state-of-the-art session will provide attendees with information regarding the relevance of microbiome in human health. Emphasis will be placed on the role of gut microbes in mediating diseases such as Clostridium difficile colitis and autism and their relevance to current therapies.
- Heidi Nelson, MD, Mayo Clinic (Moderator)
- Lee Kaplan, MD, PhD, Harvard
- Eric Pamer, MD, Memorial Sloan Kettering Cancer Center
- Microbiota-Mediated Defense Against Intestinal Infections
- John C. Alverdy, MD, FAC, University of Chicago Medical Center
- “The intestinal microbiota play a key and contributory role in the pathogenesis of anastomotic leak”
Wednesday, September 23
7:00 AM - 8:00 AM Breakfast
7:00 AM - 8:00 AM Epigenomics and Microbiome Poster Session
8:00 AM - 12:30 PM Focus Sessions with Break
8:00 AM - 12:30 PM Focus Session 1 Advances in Individualized Immunotherapy and Monitoring
Cancer Immunotherapy – training the patients’ own immune system to attack and eradicate cancer cells – unleashes weak and suppressed immune responses against self-antigens to kill cancer cells. Several routes of immunotherapy including adoptive cell transfer using ex vivo expansion of tumor-infiltrating lymphocytes, peptide vaccines using ex vivo cultured dendritic cells, and engineered cytotoxic effector cells expressing chimeric antigen receptors have shown promising results in up to 30% of patients. Recently, cancer immunotherapy based on blockade of the CTLA-4 and PD1 negative regulatory receptors, defined in part and tested clinically at Mayo Clinic. Unfortunately, even when successful, most patients derive transient benefit from check-point blockade. Consequently, new approaches are needed to build on these recent advances. Our distinguished speakers will discuss such challenges and possible solutions in immunotherapy including monitoring therapeutic response and measuring tumor DNA shed in serum.
8:00 AM - 12:30 PM Focus Session 2 Resources to Support Genomic Medicine
Genomic medicine programs, including pharmacogenomics, are becoming widespread. A variety of resources have been developed to facilitate the implementation of genomic medicine programs within existing clinical information systems. This focus session will review public resources developed by NIH-funded research programs such as the PGRN, eMERGE, CSER, IGNITE, ClinGen, and CPIC, as well as supporting standards from HL7, RxNorm, and LOINC. Together, these resources reduce barriers to the implementation of scalable genomic medicine through the development of knowledge bases, clinical guidelines and decision support tools, and common data models and terminologies.
You should attend this focus session if you are involved in the technical implementation of systems to support a genomic medicine program, the management or delivery of clinical genomic knowledge, or the translation of genomic research into clinical practice. Attendees will learn about resources to support genomic medicine and discuss some of the challenges and opportunities that remain.
- Robert R. Freimuth PhD, Mayo Clinic (Moderator)
- Casey Overby, PhD, University of Maryland
- Josh Peterson, MD, Vanderbilt
- Bob Milius, National Marrow Donor Program
- Sandy Aronson, Partners Healthcare
- “Community Initiatives Focused on Building the IT Ecosystem Required to Better Support the Use of Genetics in Medicine”
- Robert R. Freimuth, PhD, Mayo Clinic
8:00 AM - 12:30 PM Focus Session 3 Functional Genetic Strategies for Clinical Diagnosis and Treatment
Two primary challenges facing individualized medicine are understanding the clinical relevance of variants of uncertain significance (VUS) in patient health and disease, and using a patient’s genetic profile to guide therapy in the absence of standard of care. This session will cover current methods for characterizing genetic variants using model systems and how genetic models can be used to discover novel therapeutic approaches.
- Eric Klee, PhD and Karl Clark, PhD, Mayo Clinic (Moderators)
- Anthony Antonellis, PhD, University of Michigan
- Diane Slusarski, PhD, University of Iowa
- “Functional Characterization of the Bardet-Biedl Syndrome 1 Mutation in Zebrafish”
- Jason Rihel, PhD, University College, London
- Behavioral, Neurodevelopmental, and Pharmacological Phenotyping of Zebrafish Models of Autism
- Sangeetha Iyer, PhD, Perlstein Lab
- Andrew Badley, MD, Mayo Clinic
- Nicole Boczek, PhD, Mayo Clinic
8:00 AM - 12:30 PM Focus Session 4 Epigenomics-to-Practice: Neuroepigenomics
Epigenomics is a rapidly emerging scientific discipline which seeks to define how genes across the entire genome are turned on and off in response to genetic, environmental and lifestyle factors to produce distinct normal and diseased phenotypes. Recent developments in epigenomic technology provide an unprecedented opportunity to understand the pathogenesis of human disease including neurodegenerative diseases. This session will highlight cutting-edge research unraveling the role of genome-wide epigenetic changes in neurological disease affecting the central, peripheral and autonomic nervous systems.
- Philip De Jager, MD, PhD, Brigham and Women's Hospital
- Christopher Klein, MD, Mayo Clinic
- “Defects of the maintenance methyltransferase DNMT 1 lead to progressive neurological phenotypes in association with global hypomethylation and local hypermethylation”
- Menno Creyghton, PhD, Hubrecht Institute
- ”Epigenomic analysis of the human brain during development and disease”
- Raul Urrutia, MD, Mayo Clinic
- “Role of the Histone Code Reader, HP1, in NGF-Induced Neuronal Cell Differentiation”
- Tamas Ordog, MD, Mayo Clinic
- cancer”Ezh2-mediated H3K27me3 in mesenchymal cells controls a molecular switch between modes of enteric neuromuscular regulation”
- Manolis Kellis, PhD, MIT
8:00 AM - 12:30 PM Focus Session 5 Microbiome and Metabolomics
Join us for a half-day workshop as we explore the interface between the microbiome and human health using metabolomics. Attendees will obtain state-of-the-art information regarding the relevance of microbiome in human health. Emphasis will be placed on importance of understanding microbial metabolism and the role of microbiota derived metabolites on host function.
8:00 AM - 12:30 PM Focus Session 6 Metabolomics-informed Pharmacogenomics
Presentations in this session will focus on individual variation in drug response and ways in which basic and clinical investigators can utilize Pharmacometabolomics to “inform” Pharmacogenomics--to make it possible to predict response to drug therapy, and to understand underlying mechanisms of drug action.
8:00 AM - 12:30 PM Focus Session 7 Big Data to Knowledge (BD2K) Consortium Activities
The NIH-funded BD2K Centers have the mission of developing and disseminating scalable algorithms for transmitting, accessing, analyzing, and interpreting biomedical Big Data that are directly relevant to data-driven discovery in medicine. This focus session will discuss the key challenges that each participating Center is tackling and brainstorm how to synergize national efforts in Big Data science by promoting innovative collaboration opportunities. This session will provide an invaluable opportunity to engage medical community leaders in a dialogue with the computational researchers leading the BD2K Consortium.
- Jun S. Song, PhD, and Saurabh Sinha, PhD, University of Illinois at Urbana-Champaign (Moderators)
- Jieping Ye, PhD, University of Michigan
- “Large-Scale Structured Sparse Learning”
- Mario Medvedovic, PhD, University of Cincinnati
- BD2K-LINCS Data Coordination and Integration Center: Big Data
- Ian Foster, PhD, University of Chicago
- Santosh Kumar, PhD, University of Memphis
- Mobile Sensor Data-to-Knowledge (MD2K)
- Mark Craven, PhD, University of Wisconsin
- “The Challenge of Computational Phenotyping”
- Sunduz Keles, PhD, University of Wisconsin
- Sushimita Roy, PhD, University of Wisconsin