Dr. Keith Stewart is a consultant in the Division of Hematology/Oncology at Mayo Clinic; and recognized as the Vasek and Anna Maria Polak Professor of Cancer Research.

Dr. Stewart received an M.B., Ch.B. degree at Aberdeen University Medical School in the United Kingdom; and an MBA degree at the University of Western Ontario.

As a leader in the precision medicine field, he has more than 20 years of sustained national funding for laboratory research programs focusing on genomics and individualized treatment of multiple myeloma; and has led numerous clinical trials for multiple myeloma.

Dr. Stewart serves as Dean for Research in Arizona and is a member of the Arizona Executive Operations Team and Clinical Practice Committee.

Dr. Stewart has authored more than 250 publications and was an associate editor for Blood from 2009-2014. He has served on multiple national committees and advisory boards recently, including the National Cancer Institute Experimental Therapeutics Study Section Chair; the Medical and Scientific Advisory Board of the Leukemia & Lymphoma Society; and the Investment and Audit Committee of the American Society of Hematology.


Cathy Wurzer is the host of Morning Edition on the MPR News network. She is also the co-host of Almanac, a weekly public affairs program for Minnesota's statewide public television network, the longest running program of its kind in the nation. Ms. Wurzer holds degrees in broadcast journalism and urban studies from the University of Wisconsin-River Falls.

Prior to her work with MPR News, Ms. Wurzer anchored and reported for WCCO-TV, the CBS affiliate in Minneapolis. In addition, she was a talk show host for WCCO-AM radio, a producer for KMSP-TV, and a political reporter for KSTP-AM radio.

She is the author of "Tales of the Road: Highway 61" and co author of the recently released "We Know How This Ends: Living while Dying" published by the University of Minnesota Press with Bruce Kramer, the former Dean of the College of Education at the University of St. Thomas. The book is a follow up to their award winning series of MPR News radio interviews on Bruce Kramer's life with ALS.

Ms. Wurzer was awarded multiple Emmy Awards for her work on Almanac, and is a member and past president of the Society for Professional Journalists Minnesota chapter.

2016 Speakers

Dr. Ashely completed his medical residency and a PhD at the University of Oxford (Molecular Genetics and Cellular Biology). He trained in cardiology and advanced heart failure at Stanford University, joining the faculty in 2006.

In 2010, a precision medicine pioneer, Dr. Ashley led the team that carried out the first clinical interpretation of a human genome. Published in the Lancet the paper was the focus of over 300 news stories, was one of the most cited articles in clinical medicine and was featured in the Genome Exhibition at the Smithsonian Museum.

In 2013, Dr. Ashley was recognized by the White House Office of Science and Technology Policy for his contributions to Personalized Medicine. He is a recipient of the National Innovation Award from the American Heart Association and a National Institutes of Health (NIH) Director’s New Innovator Award for work focused on precision medicine for genetic heart disease. He is a member of the Institute of Medicine of the National Academy of Sciences Roundtable on Translating Genomic-Based Research for Health.

In 2014, under his leadership, the Stanford Center for Undiagnosed Diseases became part of the renowned NIH Undiagnosed Diseases Network, where Dr. Ashley serves as co-chair. Dr. Ashley is an Associate Professor of Medicine and Genetics and, by courtesy, Pathology. He chairs the Stanford Biomedical Data Science Initiative and is the scientific director for the Big Data in Biomedicine Conference.

He is co-PI of MyHeartCounts, developed with Apple as one of the launch applications for their ResearchKit —one of the first clinical studies entirely administered via mobile phone. He is also co-founder of Personalis, Inc., a genetic diagnostics company focused on the development of clinical grade genome scale diagnostics.

Dr. Caulfield graduated from the London Hospital Medical College (1984) in Medicine and trainedat St. Bartholomew’s Hospital (Barts) in Clinical Pharmacology, developing a research program in molecular genetics of hypertension and clinical research. He won the Lily Prize of the British Pharmacology Society (2009). In 2007, 2009 and 2011, his research was rated among the top 10 scientific discoveries in his field. He is a Fellow of The Royal College of Physicians.

He was director of William Harvey Research Institute (2002) and elected to the Academy of Medical Sciences (2008). He is a National Health Service (NHS) consultant in the Barts Blood Pressure Clinic (Barts /William Harvey European Society of Hypertension Centre of Excellence). He raised £25m for the William Harvey Heart Centre which created a translational clinical research center. In 2015 he led the merger of the University College London Hospitals, Heart Hospital, the London Chest Hospital and Barts to create the Bart’s Heart Centre — the UK’s largest heart centre. He is director of the Barts National Institute of Health Research Cardiovascular Biomedical Research Unit (2008).

Dr. Caulfield was President of the British Hypertension Society (2009-2011). He also served on the NICE Guideline Group for hypertension and leads the Joint UK Societies’ Working Group and Consensus on Renal Denervation which he has driven from research into NHS care.

In 2013, he was appointed chief scientist for Genomics England and became aNIHR Senior Investigator. He leads the delivery of the 100,000 Genomes Project in rare disease, cancer and infection, and all scientific activities for Genomics England. He engages with NHS scientific teams and the public to promote the 100,000 Genomes Project and oversees the Clinical Interpretation Partnership. In 2014, he became one of the top 200 most highly cited researchers in the world in genomics, according to Thomson Reuters.

Kathy Giusti, a multiple myeloma patient, is the Founder of the Multiple Myeloma Research Foundation (MMRF) and currently serves on the MMRF Board of Directors. She also has more than two decades of experience in the pharmaceutical industry, previously holding senior positions at G.D. Searle and Merck.


Since founding the MMRF in 1998, Giusti has led the Foundation in establishing innovative, collaborative research models in the areas of tissue banking, genomics, and clinical trials. These models are dramatically accelerating the pace at which lifesaving treatments are brought to patients and are building an end-to-end solution in precision medicine.  Today, Giusti is widely recognized as a pioneer of precision medicine, a champion of open-access data sharing and a strong advocate for patient engagement, not only in their cancer care, but as part of the research and drug development process. 


She was selected to serve on President Obama's 2015 Precision Medicine Initiative Working Group.  She currently serves on the Harvard Business School Health Advisory Board and has previously served on the President's Council of Advisors on Science and Technology, National Cancer Advisory Board and the National Cancer Policy Board.


Giusti's leadership has earned her several prestigious awards and recognitions. She was ranked #19 on Fortune Magazine's Worlds' 50 Greatest Leaders and was named to TIME 100 List of the world's most influential people. She has been named an Open Science Champion of Change by the White House and has also received the American Association for Cancer Research Centennial Medal for Distinguished Public Service.

Giusti received her MBA in general management from Harvard Business School. She holds an honorary Doctorate from the University of Vermont.

As a genetic epidemiologist and computational biologist Dr. Haines has a track record of performing specialized work. He has extensive experience in all aspects of human genetic studies including clinical ascertainment, statistical and computational analysis, and molecular genetics. He has ascertained and followed thousands of participants in studies of multiple sclerosis, Alzheimer’s disease, autism, and macular degeneration. These cohorts include special populations (Amish) and minority populations (African-Americans).

Dr. Haines has expertise in design/implementation of large-scale clinical studies. He has created and overseen biobanks with >300,000 samples and used the resulting data for extensive genome-wide genotyping and sequencing studies. He has worked extensively with electronic health record (EHR) data to define and refine phenotypes and helped to develop the concept of phenome-wide association studies (PheWAS), which exploits the power of biobanks linked to EHR data. He was one of the founding developers of Vanderbilt's BioVU EHR-linked biobank.

Dr. Haines has been the principal investigator of numerous National Institutes of Health (NIH)-funded initiatives including the eMERGE network coordinating center and experience with several successful investigative collaborations. He is currently leading two national consortia (Alzheimer’s disease and macular degeneration). He is also on the external advisory board for the PhenX project, which aims to standardize phenotypic measures, and the PAGE network, which is aggregating longitudinal epidemiologic cohorts to examine genetic influences on disease, particularly in minority populations.

Dr. Hood graduated from Johns Hopkins University School of Medicine with an MD (1964) and Caltech with a PhD in Biochemistry (1968). He was a senior investigator for three years at the National Institutes of Health. At Caltech, he and colleagues developed the DNA gene sequencer/synthesizer, and the protein synthesizer/sequencer–four instruments that paved the way for the successful mapping of the human genome. A pillar in the biotechnology field, Dr. Hood has played a role in founding 15 biotechnology companies including Amgen, Applied Biosystems, and Integrated Diagnostics. He is a member of the National Academy of Sciences, the National Academy of Engineering, and the Institute of Medicine. Of the more than 6,000 scientists world-wide who belong to one or more of these academies, he is one of only 15 people nominated to all three academies with his endless knowledge and vision in precision medicine.

Dr. Hood has co-authored numerous textbooks in biochemistry, immunology, and genetics, as well as The Code of Ethics, a book on the human genome project. He is currently finishing a text on systems biology. He received 17 honorary degrees from prestigious universities in the U.S. and abroad, published over 750 peer reviewed articles and currently holds 36 patents.

He is the recipient of numerous national and international awards, including the Lasker Award for Studies of Immune Diversity (1987), the Kyoto Prize in advanced technology (2002), the Heinz Award for pioneering work in Systems Biology (2006), and the NAE 2011 Fritz J. and Delores H. Russ Prize for developing automated DNA sequencing.

Dr. Hood received the National Medal of Science from President Obama (2013). He was named by The Best Schools as one of the 50 Most Influential Scientists in the World Today (2014) and Scientific American named him as one of the top six in their selection of 100 biotech visionaries world-wide (2015).

Dr. Johnson graduated from the Ohio State University with a B.S. in Pharmacy and a PharmD from the University of Texas, Austin, and the Health Science Center at San Antonio. She completed a post-doctoral fellowship in cardiovascular pharmacology/pharmacokinetics at Ohio State. She is a board certified pharmacotherapy specialist with added qualifications in cardiology.

Dr. Johnson is a Distinguished Professor of Pharmacy and Medicine and Director of the University of Florida Health Personalized Medicine Program.Her research focuses on cardiovascular pharmacogenomics and genomic medicine. She leads a hypertension pharmacogenomics research group, funded under the National Institutes of Health (NIH) Pharmacogenomics Research Network, and another NIH-funded group in genomic medicine implementation in the NIH IGNITE network. She is an internationally-recognized leader in cardiovascular pharmacogenomics and genomic medicine, with over 240 peer reviewed publications and more than $35 million in research funding as principal investigator.

She served on the FDA Nonprescription Drugs Advisory Committee, the XNDA Study Section at NIH, and in numerous capacities with NIH’s NHLBI. Her leadership roles include the American College of Clinical Pharmacy (ACCP), the American Heart Association (AHA), and the American Society of Clinical Pharmacology and Therapeutics (ASCPT), fwhere she served as president (2016). She is an elected fellow of ACCP, AHA and American College of Clinical Pharmacology.

Dr. Johnson was elected to the National Academy of Medicine (2014). She has received awards from the University of Tennessee (1996) and the University of Florida (2001) for teaching; the Ohio State University Alumni Association William Oxley Thompson Award for early career achievement (1997); Leon I. Goldberg Young Investigator Award from ASCPT (2004); Paul Dawson Biotechnology Research Award (2007), Therapeutic Frontiers Award (2009) and Russell R. Miller Award for Contributions to the Literature (2010) from ACCP; and the Southeastern Universities Research Association Distinguished Scientist Award (2015); among others.

Justin is a Co-Founder and Senior Vice President of Corporate Development, Operations, and Strategy at Helix, a consumer genomics company that is focused on empowering every person to discover insights into his or her own DNA through an ecosystem of high-quality content partners. Helix handles sample collection, sequencing, and data storage so that its partners are free to focus on incorporating genomic insights into innovative consumer products.

Prior to Helix, Justin was a Vice President in the healthcare group at Warburg Pincus, a global private equity firm focused on growth investing. He also spent time at the Boston Consulting Group and Onyx Pharmaceuticals. Justin holds a B.S. in Chemical Engineering and a M.S. in Bioengineering from Stanford University. He also received a J.D. from Stanford Law School and a M.B.A. from Stanford Graduate School of Business, where he was an Arjay Miller Scholar.Co-Founder, Senior Vice President of Corporate Development, Operations, and Strategy. Helix

Dr. Scherer graduated with a PhD from the University of Toronto under Professor Lap-chee Tsui. Together they founded Canada's first human genome centre, the Centre for Applied Genomics (TCAG) at the Hospital for Sick Children. He continues to serve as Director of TCAG, and is also Director of the McLaughlin Centre at the University of Toronto Faculty of Medicine.

Dr. Scherer holds the GlaxoSmithKline-Canadian Institutes of Health Research Endowed Chair in Genome Sciences at The Hospital for Sick Children (SickKids) and the University of Toronto (U of T).

His group contributed to the discovery of global gene copy number variation (CNV) as a common form of genetic variation in human DNA. They also identified CNV to contribute to the aetiology of autism and many other disorders. Dr. Scherer founded The Database of Genomic Variants which facilitates hundreds of thousands of clinical diagnoses each year.

Dr. Scherer's research is documented in over 450 publications and he is one of the most highly cited scientists in the world. Dr. Scherer has won numerous honors such as the Steacie Prize, a Howard Hughes Medical Institute Scholarship, and the Premier's Summit Award for Medical Research.

He is a distinguished Fellow of the Canadian Institute for Advanced Research, the American Association for the Advancement of Science, and the Royal Society of Canada

In 2014, he was selected as a Thomson Reuters Citation Laureate in the field of Physiology or Medicine for "The Discovery of Large-Scale CNV and its Association with Specific Diseases".

Dr. Summar is well-known for his pioneering work in caring for children diagnosed with rare diseases. He joined Children’s National in 2010 from Vanderbilt University. At Children’s National he leads the Division of Genetics and Metabolism, currently the largest clinical division in the world seeing over 7,500 patients a year with rare diseases. Dr. Summar’s laboratory works on both devices and treatments for patients with genetic diseases and adapting knowledge from rare diseases to mainstream medicine. His work has resulted in new drugs in FDA trials for patients with congenital heart disease and premature birth. He has over 30 patents and patent applications. His laboratory is best known for its work in the rare diseases affecting nitrogen and ammonia metabolism. Dr. Summar has also organized and led a large number of international work groups to develop standards of care and treatment for rare diseases resulting in significant improvements in outcomes. Dr. Summar developed a program with the National Institutes of Health (NIH) where very young children can benefit from NIH research programs at Children’s National. Dr. Summar is board-certified in Pediatrics, Clinical Genetics, and Biochemical Genetics and has been listed with Best Doctor’s in America since 2004. He serves on the board of directors of the National Organization of Rare Diseases (Treasurer) and the Society of Inherited Metabolic Diseases (President). He directs the National Organization of Rare Diseases Scientific and Medical Advisory Committee and is spearheading an effort to develop national standards for families to collect information about poorly understood rare diseases affecting 25 million Americans. He is very active in newborn screening issues developing testing and follow-up systems.

Concurrent Session 2A Utility of Genetic Testing: Promises and Pitfalls

Additional concurrent speaker information added as we receive it throughout the year.

Concurrent Session Speakers

Dr. Atwal is a clinical and medical biochemical geneticist and medical director of the center for individualized medicine on the Jacksonville campus, having joined the Mayo Clinic in August 2015. He received his medical degree from the University of Glasgow in 2003 and initially trained in hospital internal medicine with The Royal College of Physicians at Glasgow Royal Infirmary in Scotland. He did his genetics fellowship at Stanford University in Palo Alto CA and subspecialty biochemical genetics fellowship at Baylor College of Medicine in Houston TX where he was involved in developing a clinical metabolomic profiling test. In addition he holds diplomas in structural molecular biology and forensic medical science and awards include the 2014-2015 ACMG Foundation/Genzyme Fellowship in Biochemical Genetics Award and The Neurobiology of Disease in Children Young Investigator Award.

He has a long standing interest in rare and undiagnosed disease including the use of multiple concurrent –omics platforms to provide a diagnosis to patients. Dr. Atwal’s clinical interests include medical genetics, undiagnosed diseases following lengthy diagnostic odysseys and inborn errors of metabolism including mitochondrial diseases.

Concurrent Session 4A Genomic Case Review with the Experts

Dr. Baudhuin is Associate Professor of Laboratory Medicine and Pathology at Mayo Clinicand is co-director of the Personalized Genomics Laboratory, the Clinical Genome Sequencing Laboratory, and the Cardiovascular Laboratory at Mayo Clinic. Dr. Baudhuin received her Ph.D. in Clinical Chemistry from Cleveland State University in conjunction with the Cleveland Clinic. She then completed fellowships in Clinical Chemistry and Clinical Molecular Genetics at Mayo Clinic. She is board certified in Clinical Molecular Genetics by the American Board of Medical Genetics and Genomics. Dr. Baudhuin’s clinical and research interests are related to Personalized Medicine and lie primarily in the areas of cardiovascular-related inherited disorders, pharmacogenomics, and next-generation sequencing.

Concurrent Session 3D Advances in Genomic Laboratory Medicine

Dr. Bauer is a Principal Investigator and staff physician at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, where he is the Associate Director of the Thalassemia Program. He is also an Assistant Professor of Pediatrics at Harvard Medical School, Principal Faculty at the Harvard Stem Cell Institute, and Associate Member of the Broad Institute.

As a physician-scientist his research integrates genetic, epigenetic, and functional genomic methodologies to understand the determinants of blood cell development and develop innovative therapeutic strategies for blood disorders. By comparing common trait-associated genetic variation with epigenetic modification of primary human erythroid precursors, and applying genome editing technology, he identified an erythroid enhancer element of the BCL11A gene that is a critical determinant of fetal hemoglobin level and a potential therapeutic target for the β-hemoglobin disorders. His laboratory has developed techniques to perform genome editing using CRISPR-Cas9 RNA-guided endonucleases in hematopoietic cells. He has developed a method termed Cas9-mediated in situ saturating mutagenesis to determine at high-throughput and high-resolution the function of non-coding elements in their native chromosomal setting. Dr. Bauer’s clinical work in pediatric hematology focuses on the care of patients with hemoglobin disorders.

Dr. Bauer received his B.S. in Biology from Brown University and M.D.-Ph.D. from the University of Pennsylvania. He completed clinical training in Pediatrics and Pediatric Hematology/Oncology at Boston Children’s Hospital and Dana-Farber Cancer Institute. where he is Associate Director of the. He has received awards including the Young Physician-Scientist Award of the American Society for Clinical Investigation Council, Junior Faculty Scholar Award of the American Society of Hematology, and Career Award for Medical Scientists from the Burroughs Wellcome Fund.

Concurrent Session 1C Novel Genetic Applications with Potential to Transform Healthcare

Dr. Borenstein is an associate professor of Genome Sciences at the University of Washington, with an adjunct position in the Department of Computer Science and engineering. He is also an external professor at the Santa Fe Institute for complexity science. Dr. Borenstein received his Ph.D. in computer science from Tel-Aviv University, Israel, and held a joint postdoctoral fellowship at the Department of Biology in Stanford and at the Santa Fe Institute. He also has extensive professional experience in the hi-tech industry, where he held top management positions in several hi-tech companies.

Dr. Borenstein integrates metagenomic data with methods inspired by systems biology, network theory, machine-learning, and statistical inference to develop a variety of computational methods for studying the human microbiome. His work focuses on reconstructing predictive, systems-level models of the human microbiome and on integrative, multi-meta-omic analysis, aiming to provide a better principled understanding of the microbiome and its role in human health.

Dr. Borenstein is the recipient of various awards including, most recently, the Alfred P. Sloan Fellowship and the National Institutes of Health New Innovator Award.

Concurrent Session 3C Transforming Patient Care with Microbiome Research

Dr. Bryce is a consultant in the Division of Hematology and Oncology, Department of Internal Medicine at Mayo Clinic in Arizona and serves as vice chair and practice chair of the division. He currently serves as medical director of the Genomic Oncology Clinic at Mayo Clinic in Arizona. He holds the academic rank of assistant professor of medicine, Mayo Clinic College of Medicine. He joined the staff of Mayo Clinic in 2011.

Dr. Bryce earned his B.S. degree in biochemistry at University of California, Los Angeles, and his M.D. degree at Finch University of Health Sciences, Chicago Medical School. He completed a residency in internal medicine and a fellowship and chief fellowship in hematology/oncology at Mayo Graduate School of Medicine.

Dr. Bryce's research centers on understanding the genetic mutations of individual cancer cells in order to allow for a precise, targeted treatment strategy. The ultimate goal is for every patient to have their tumor biopsied and sequenced, resulting in a personalized treatment plan. In his leadership role with the Genomic Oncology Clinic, he utilizes whole genome sequencing of tumors to identify key driver mutations. This approach allows for precise targeting of a patient's tumor, leading to a greater chance of remission. Dr. Bryce participates in community outreach to underserved populations and has in interest in health disparities research. He has authored numerous journal articles, abstracts and other written publications.

Dr. Bryce has received numerous awards and honors, including the Excellence in Teaching Recognition Award, conferred by Mayo Medical School, Mayo Clinic College of Medicine; the Young Investigator Award, conferred by the American Journal of Hematology; the Oncology Scholar in Training Award, conferred by the American Association of Cancer Research, Bristol-Myers Squibb; and the Outstanding Trainee Award, conferred by the Hematology/Oncology Fellowship Program, Mayo Clinic.

Concurrent Session 4C Cancer and Precision Medicine

Dr. Caudle is the Clinical Pharmacogenetics Implementation Consortium (CPIC) coordinator at St. Jude Children's Research Hospital. CPIC provides guidelines that enable the translation of genetic laboratory test results into actionable prescribing decisions for specific drugs. To date, CPIC has published 19 gene-based clinical guidelines. In this position, Dr. Caudle oversees the CPIC guideline development process including the coordination of the guideline writing committees, the guideline evidence reviews, and the writing of the guideline manuscript and supplement. In addition, Dr. Caudle is involved in the clinical implementation of pharmacogenetics at St. Jude Children's Research Hospital.

Prior to her current position, Dr. Caudle was an Assistant Professor at the James L. Winkle College of Pharmacy, University of Cincinnati and Research Pharmacist at Cincinnati Children’s Hospital Medical Center.

Dr. Caudle received her Pharm.D. and Ph.D. from The University of Tennessee Health Science Center and completed an ASHP-accredited PGY2 residency at Le Bonheur Children’s Research Hospital. She is also a board‐certified Pharmacotherapy Specialist. Dr. Caudle is currently an affiliate Assistant Professor at The University of Tennessee Health Science Center.

Concurrent Session 2D Pharmacogenomics Guidelines: International and US Perspectives

Dr. Chopra is a physician-scientist at Baylor College of Medicine with clinical expertise in Medical Genetics with research expertise in the field of energy homeostasis and metabolic disease. Through the assessment of humans with genetic defects in the processing of energy, we are able to identify new genes and pathways that have escaped attention so far. This not only benefits patients but also allows us to take the discovery into the lab and focus on filling in the gap from the gene to the phenotype. The overarching aim is to help one patient at a time but also a broader swath of humanity via advancing medical knowledge and developing novel therapeutics.

Concurrent Session 4A Genomic Case Review with the Experts

Karl Clark is an Assistant Professor at Mayo Clinic in Rochester, MN, and director of the Functional Validation Core within the Functional Validation Center at the Center for Individualized Medicine. Dr. Clark and team of researchers and clinicians functionally test variants of unknown significance (VUS) observed in patient genomes that may contribute to disease. Dr. Clark’s research laboratory deploys zebrafish, a vertebrate model organism with genetic tractability, to study the vertebrate stress response system, a diverse suite of neuronal, endocrine and autonomic response mechanisms that play key roles in environmental interactions. The clinical significance of stress-aggravated disorders is high, but the molecular nature of how stress contributes to disease are largely unknown.  Stress and the stress response system’s role in disease progression depends on heritable genetic factors, life-priming events, and later life stressors that may trigger disease onset.  Dr. Clark's research goals are to contribute to better understanding of the development of the stress response system, how it impacts patient health, and how it can be modulated for the benefit of patients.

Dr. Clark earned his Bachelor of Science from the University of Wisconsin- Eau Claire in Biochemistry and Molecular Biology. He attended graduate school at the University of Minnesota, where he trained with Perry Hackett, PhD and helped develop the Sleeping Beauty transposon system, earning his PhD from the Molecular, Cellular, Developmental Biology, and Genetics program. Dr. Clark worked at Discovery Genomics, Inc., a gene therapy startup in Minneapolis, Minn., before returning to the University of Minnesota for post-doctoral training in the laboratory of Scott Fahrenkrug, PhD There he helped improve genome engineering applications in livestock that contributed to starting Recombinetics, Inc., a livestock genome-editing company. He moved to Rochester to work and train with Stephen Ekker, PhD at Mayo Clinic before starting his own laboratory.

Concurrent Session 2C Functional Studies to Disambiguate Variants of Uncertain Significance in Clinical Testing

Dr. Rita R. Colwell is a Distinguished University Professor at the University of Maryland, College Park and Johns Hopkins University Bloomberg School of Public Health and Chairman and Chief Science Officer, CosmosID, Inc. Her interests are focused on genomics, biodiversity, and molecular microbial systematics and ecology. Dr. Colwell is an honorary member of the microbiological societies of the UK, Australia, France, Israel, Bangladesh, India and the U.S. Dr. Colwell served as the 11th Director of the National Science Foundation from 1998 to 2004. She has authored/co-authored 19 books and over 700 scientific publications. She is a member of the National Academy of Science and has been awarded the Stockholm Water Prize, Order of the Rising Sun, Japan, and the US National Medal of Science.

Concurrent Session 1B The New Frontier - Next Generation Sequencing Based Microbial Diagnostics

KDr. Cuppen is professor of Human Genetics, manager Research and Education of the Division of Biomedical Genetics and director of the Center for Molecular Medicine at the University Medical Center Utrecht in The Netherlands. He is also the director of a national large scale sequencing center, the Hartwig Medical Foundation, in Amsterdam.

Dr. Cuppen is an expert in DNA sequencing and applies next-generation sequencing for both research and diagnostic purposes. He is a pioneer in personalized genomics, carrying his genome not only in his own cells, but also on his iPad.

In 2005, Dr. Cuppen received a European Young Investigators Award and in 2013, he was awarded a prestigious NWO Vici grant for dissecting the molecular mechanisms behind and functional consequences of structural variation in genomes. In his current work he combines experimental methods, including next-generation DNA sequencing technology and other -omics techniques, with patient cohort and cellular model systems and integrative bioinformatic approaches to understand the induction and the effects of genetic variation under normal and disease conditions like cancer and congenital disease.

Dr. Cuppen is also one of the initiators of the nationally operating Center for Personalized Cancer Treatment (CPCT), for which he heads the centralized genome analysis and bioinformatic data integration efforts. This national collaboration aims for the stratification of cancer patients towards targeted treatments based on DNA measurements of the tumor. CPCT, in close collaboration with the Hartwig Medical Foundation, aims to bring these developments to all cancer patients in The Netherlands in a timely and responsible manner.

Concurrent Session 3B Applying Pharmacogenomics: Changing Practice, Changing Lives

Bernard Esquivel, M.D.,M.S., M.H.A.,is a specialist in Clinical Immunology and Allergies certified member of the American College of Allergy, Asthma and Immunology (ACAAI), as well as the European Academy of Allergy and Clinical Immunology (EAACI). He received his medical training at the National Autonomous University of Mexico (UNAM), followed by a Masters in Medical Genetics from the University of Valencia (Spain) and a Masters in Health Administration. He cofounded and has served as president of the Latin American Association for Personalized Medicine (ALAMP) since 2014. He established the first integral genetic services company in Mexico: Total Quality Medicine and in 2016 opened the first precision medicine clinic in Mexico, Genomedik.

Concurrent Session 4B – Predictive and Consumer Genomics

Dr. Freimuth's research program centers on developing standards-based knowledge representation schemas for the pharmacogenomics domain, including gene-drug interactions and clinical recommendations that are used in decision support algorithms. The goal of his research is to help realize the promise of precision medicine through the development of interoperable systems that provide caregivers with genomic clinical decision support (CDS) at the point of care. He is accomplishing this by developing computational methods, tools and infrastructure that facilitate the translation of genomic data to clinical practice.

Dr. Freimuth is an active member of the National Institutes of Health (NIH) Pharmacogenomics Research Network (PGRN). He is PI of the PGRN Pharmacogenomics Ontology network resource, which aims to create standardized representations for pharmacogenomics data. He Chairs the Data Standardization Work Group within the PGRN Translational Pharmacogenetics Program and he is co-Chair of the Clinical Pharmacogenetics Implementation Consortium (CPIC) Informatics Work Group. Dr. Freimuth participates in many other research networks and standards development initiatives, including eMERGE, ClinGen, HL7 Clinical Genomics, W3C Healthcare and Life Sciences, and the ONC Standards & Interoperability Framework. He recently completed two terms as Chair of the AMIA Genomics and Translational Bioinformatics Working Group, and continues to serve that community through the role of Past-Chair.

Dr. Freimuth is an Assistant Professor of Biomedical Informatics in the Department of Health Sciences Research, Mayo Clinic. He earned a Ph.D. in Molecular Pharmacology from Mayo Graduate School, where he studied the pharmacogenomics and functional genomics of drug metabolizing genes. He completed a postdoctoral fellowship in the Division of Molecular Oncology at Washington University, where he developed a bioinformatics pipeline for the annotation of genomic variants. Prior to his current position, he worked in the Siteman Cancer Center Bioinformatics Core at Washington University as a scientific domain expert for software development projects.

Concurrent Session 2D Pharmacogenomics Guidelines: International and US Perspectives

Axel Grothey, M.D., is a consultant in the Division of Medical Oncology, Department of Oncology, at Mayo Clinic. He holds the academic rank of professor of oncology and has teaching/examining privileges in Clinical & Translational Science at Mayo Graduate School. He is a member of Mayo Clinic’s Cancer Center.

Dr. Grothey received his medical degree at Ruhr-Universitat Bochum, Germany, and completed residencies at West-German Tumorcenter and the Institute of Pathology at the University of Essen and a residency and fellowship at the University of Bochum. He also completed a research fellowship at MD Cancer Center at the University of Texas. He joined Mayo Clinic as a consultant in 2005.

Dr. Grothey’s clinical interests focus on gastrointestinal cancers, in particular, colorectal cancer, anti-angiogenesis, signal transduction inhibitors, and clinical trial design and statistics. As a consultant and investigator, his research has been funded by the National Cancer Institute (NCI) and the National Institutes of Health, among other organizations. He currently chairs the NCI colon cancer task force, and serves as vice-chair of the gastrointestinal cancer committee of the Alliance for Clinical Trials in Oncology, an NCI-funded cooperative group. He is also chair of the Academic and Community Cancer Research United (ACCRU) international research network.

He currently holds professional positions in the Association of German Internists, German Cancer Association, Working Group of Experimental Cancer Research in Germany, American Association for Cancer Research, European Association for Cancer Research, American Society for Cell Biology, MD Anderson Associates, American Society of Clinical Oncology, European Society for Medical Oncology, German Association for Internal Oncology and the Minnesota Medical Association. He also has served in various leadership positions at Mayo Clinic Cancer Center.

Dr. Grothey serves in journal review and editorial activities for numerous medical journals and is editor for Clinical Colorectal Cancer, Emerging Cancer Therapeutics, OncologySTAT, and Therapeutic Advances in Medical Oncology. In educational activities, he has served as a teacher, and he is a five-time recipient of Teacher of the Year recognition at Mayo Clinic. Dr. Grothey has given numerous international, national and regional presentation, as well as invited and visiting professor presentations. He has co-authored more than 250 articles, books, book chapters, editorials, abstracts and letters.

Concurrent Session 3D Advances in Genomic Laboratory Medicine)

Dr. Jill Hagenkord joined the company in 2014 and serves as chief medical officer for 23andMe where she is responsible for all medical affairs activities serving as the company liaison to physician, medical, genetics and research industry groups. Jill also oversees laboratory, shipping and fulfillment operations for the company.

Previously, Jill served as senior vice president of medical strategy for InVitae Corporation, a genetics information company, where her role included serving as medical director, contributing to corporate strategy, acting as commercial liaison, and leading the company’s physician education programs.

Jill is a board-certified molecular genetic pathologist. Prior to joining Invitae, she served as chief medical officer and senior vice president at Complete Genomics, Inc. Her other prior experiences include founder and chief medical officer for iKaryos Diagnostics, associate professor of pathology at Creighton University School of Medicine, director of molecular pathology and clinical genomics at Creighton Medical Laboratories, and pathologist at Deltagen, Inc. Jill received her M.D. from Stanford University School of Medicine in 1999, did her residency training in pathology at the University of California at San Francisco and the University of Iowa, and completed fellowships in pathology/oncology informatics and molecular genetic pathology at the University of Pittsburgh Medical Center.

Consumer Genomics Panel Discussion

Louanne Hudgins, M.D., is Professor of Pediatrics in the Division of Medical Genetics at Stanford School of Medicine. She received her bachelor’s degree and medical degree from the University of Kansas, and completed her internship and residency in Pediatrics as well as her fellowship in Human Genetics at the University of Connecticut. She is board certified in Clinical Genetics by the American Board of Medical Genetics. Dr. Hudgins was on the faculty at the University of Arizona and the University of Washington before moving to Stanford in 1999. Clinically, she provides pediatric and adult genetic evaluations, and is the Director of the Perinatal Genetics service at Lucile Packard Children’s Hospital Stanford.

Dr. Hudgins has been active in the American College of Medical Genetics serving on the Board of Directors, as Vice President of Clinical Genetics, and as co-chair of the Professional Practice and Guidelines Committee. She is currently President-Elect. She is also an active member of the American Society of Human Genetics, the Western Society for Pediatric Research, and several regional, state and local genetics groups. She has volunteered with the March of Dimes, and is a member of the Kabuki Syndrome Network Professional Advisory Group. Dr. Hudgins has authored over 100 journal articles and book chapters, edited the textbook Signs and Symptoms of Genetic Conditions: A Handbook, and has given hundreds of presentations on various aspects of genetics and genetic counseling. Her research interests include syndrome delineation, gene discovery for "unknown" genetic disorders, and noninvasive prenatal genetic screening and diagnosis.

Concurrent Session 4A Genomic Case Review with the Experts

Dr. Mahim Jain MD, PhD is a member of the Osteogenesis Imperfecta Clinic at Kennedy Krieger Institute, Assistant Professor, Department of Pediatrics, Johns Hopkins University, Clinical Director of the Statistical Genetics Program in the Medical Genetics Branch of NHGRI and Co-Lead of the Balor College of Medicine Clinical Site of the Undiagnosed Diseases Network Sequence Analysis Group. Dr. Jain received his bachelor’s degree from The University of Notre Dame, graduating summa cum laude in biochemistry. He completed his medical school at Indiana University School of Medicine and completed a Ph.D. from The University of Oxford, focused on using statistical and computational methods to identify genetic variants that contribute to both rare and complex human traits. During that time he was a Howard-Hughes Medical Institute-National Institutes of Health Research Scholar and a National Institutes of Health-Oxford Biomedical Scholar. He completed his clinical residency at Baylor College of Medicine in the combined pediatrics and genetics residency program. During training he was involved in clinical research efforts focused on studying clinically-relevant outcomes in a large multi-center cohort of patients with osteogenesis imperfecta. He also gained skills in the evaluation of next-generation sequencing data and is currently the Co-lead of the Baylor College of Medicine Clinical Site of the Undiagnosed Diseases Network Sequence Analysis Group.

Concurrent Session 4A Genomic Case Review with the Experts

Dr. Jenkins has focused his professional career on cancer genetics, particularly elucidation of the genetic events important for cancer initiation and progression. His cancer genetics efforts have encompassed both basic genetic investigations as well as clinical translation of those basic genetic observations. His primary interest has been centered on the genetics of gliomas, where both his basic genetic studies and clinical translation activities have had a major impact on neuro-oncology. As a part of his research, his lab has worked in other areas of neuro-oncology as well. For example, his lab discovered that 1p/19q codeletion is associated with tumors of olidogendroglial lineage and predicts response to chemotherapy and radiation therapy and then designed a FISH test that is used world-wide to test for these deletions. In addition, his lab developed carrier peptides to deliver proteins and small molecules across the blood-brain barrier (BBB). This technology has been licensed by several drug companies and is showing evidence of success for the treatment of neurologic disorders. Along with Genome Diagnostics Inc., his lab developed an expression profiling test that predicts which men with prostate cancer are likely to develop clinical progression. This test is now included in the NCCN prostate cancer diagnostic guidelines. During his concurrent CIM conference session, he will be discussing the development of mate-pair NGS for use as a clinical cytogenetics test.

Concurrent Session 1C Novel Genetic Applications with Potential to Transform Healthcare

Dr. Kashyap is an Assistant Professor of Medicine and Physiology, as well as a consultant in the Department Gastroenterology and Hepatology. His research program aims to better understand the pathogenesis of functional gastrointestinal disorders and develop newer treatment options for patients. The current understanding of the disease process remains poor, and as a result treatment options are very limited and fail to address the underlying causes. His team hopes to extend this knowledge to address other diseases associated with changes in human gut bacteria such as C. difficile colitis and obesity.

The human gastrointestinal (GI) tract harbors 100 trillion microbes that live in harmony with their human host and perform processes vital for health. Changes in the normal gut microbiota have been associated with a number of disease states with changes in gastrointestinal (GI) motility, such as irritable bowel syndrome and Clostridium difficile colitis. Dr. Kashyap’s laboratory primarily focuses on the influence of gut bacteria on gastrointestinal physiology by modulating host pathways such as the serotonergic system. We use targeted and non-targeted metabolomics, transcriptomics, and genomics in combination with gnotobiotic mouse models to help identify novel bacterial taxa and microbial metabolites which affect the key players involved in gastrointestinal motility, secretion and sensation. In order to better understand the role of human derived gut microbes his research team uses the humanized mouse model where we colonize germ free mice with human derived bacteria to allow us to more effectively translate our findings and develop targeted therapies for humans. They have recently described the role of gut microbiota derived short chain fatty acids in increasing serotonin biosynthesis and release using these methods. The long-term goal of our research is to develop new biomarkers and microbiota-targeted therapies for treatment of functional gastrointestinal disorders, including irritable bowel syndrome.They are interested in engineering commensal gut bacteria to produce a metabolite of interest, which will help overcome deficiencies in the current approach of probiotics.

Concurrent Session 3C Transforming Patient Care with Microbiome Research

Microbiome All You Need Is Bugs

Dr. Eric Klee is an Assistant Professor of Medical Informatics and Bioinformatics Program faculty member in the Department of Health Sciences Research, and has been at Mayo Clinic since 2005. Dr. Klee is Director of Bioinformatics of Mayo Clinic’s Clinical Genome Sequencing Laboratory and member of the Department of Laboratory Medicine and Pathology, a position held since 2012. Dr. Klee is also the Associate Director of Mayo Clinic’s Center for Individualized Medicine Bioinformatics Program and has directed the Individualized Medicine Bioinformatics team since 2012.

Dr. Klee earned his Bachelors of Science degree in Electrical Engineering at Iowa State University in 1997, obtained a Master of Science degree in Health Informatics with focus in Bioinformatics at the University of Minnesota, Minneapolis. He completed his Ph.D .in Health Informatics and Bioinformatics in the University of Minnesota, Minneapolis, in 2005.

Dr. Klee’s research is focused on the application of next generation sequencing for clinical testing and diagnostics. His work includes the translation of emerging bioinformatics methods from the research domain into clinical practice. He is actively involved in the in development and implementation of systems to support sequence analysis and interpretation in the context of individualized, precision medicine. Dr. Klee also leads a functional validation program that uses experimental techniques to better characterize the putative role of variants of uncertain significance in the context of patient-specific disease state.

Concurrent Session 2C Functional Studies to Disambiguate Variants of Uncertain Significance in Clinical Testing

Ms. Kruisselbrink is Genetic Counselor Supervisor in the Mayo Clinic Center for Individualized Medicine. She began her career in 1997 at Mayo Clinic by establishing the role of the laboratory based genetic counselor in Molecular Genetics, Biochemical Genetics, Cytogenetics and Maternal Serum Screening. She has provided genetic counseling in Medical Genetics, neurology, obstetrics, cardiology and outreach clinics. She contributes to numerous educational programs including Mayo Medical School, Graduate School, and fellowship and residency programs in the laboratory and clinical environments. She is also actively involved in mentoring high school and college students wishing to pursue a career in genetic counseling. Ms. Kruisselbrinkreceived her B.S. in Molecular, Cellular, Developmental Biology and Genetics and M.S. in Genetic Counseling from the University of Minnesota. She is an Instructor of Laboratory Medicine and Pathology.

Concurrent Session 3A Clinical Genomics Management: From the Patient Perspective

Dr. Lazaridis is a Professor of Medicine and a Consultant in the Division of Gastroenterology and Hepatology at Mayo Clinic College of Medicine.

He received his medical degree at the University of Ioannina in Greece. He completed his Internal Medicine and Gastroenterology fellowship training at Mayo Clinic and was a Mayo Clinic Scholar in Genomics in the laboratory of Francis Collins, M.D., Ph.D., at the National Human Genome Research Institute.

Dr. Lazaridis is considered a leader in the area of the genomics of chronic cholestatic liver diseases, namely, Primary Biliary Cirrhosis (PBC) and Primary Sclerosing Cholangitis (PSC). Since 2003, he has established and is the principal investigator of the two national consortia for studying patients afflicted with these diseases. His research group applies the latest genomic and genetic epidemiology approaches to better understand the pathogenesis and improve the therapy of patients with PBC and PSC. This research effort is supported by the National Institutes of Health.

As Associate Director of the Mayo Clinic Center for Individualized Medicine iDr. Lazaridis has been instrumental in the establishment and expansion of the Individualized Medicine Clinic and the direction of the Clinomics translational program.

Concurrent Session 4B Predictive and Consumer Genomics

Michael Linderman, Ph.D., is an Assistant Professor of Computer Science at Middlebury College, and previously was a Research Assistant Professor in the Department of Genetics and Genomic Sciences at Mount Sinai in New York. Michael is a computer engineer and computational biologist working to implement medical genomics. At Mount Sinai, he was a co-investigator in HealthSeq, a study investigating the return of whole genome sequencing data to healthy individuals, and the co-developer and director of "Practical Analysis of Your Personal Genome", a unique laboratory-style genomics course in which students have the option to sequence and analyze their own whole genome. His research interests include variant interpretation, structural variant genotyping, and genomics education for the public, patients and providers.

Concurrent Session 4B Predictive and Consumer Genomics

Dr. McWilliams is a staff consultant and Associate Professor of Oncology at the Mayo Clinic, and Vice Chair of the Division of Medical Oncology. After receiving his undergraduate degree from the University of Virginia, he completed medical school at Georgetown University in Washington, DC, graduating summa cum laude. He completed his medical residency at Johns Hopkins, and a fellowship in hematology/oncology at Mayo Clinic in Rochester, MN. He also has completed a postdoctoral cancer genetic epidemiology fellowship at Mayo, and has actively studied and published extensively in the field of genetics of pancreatic cancer since 2003. He is principal investigator of multiple clinical trials in gastrointestinal cancer and melanoma, and serves as Chair of the Mayo Clinic Genomic Tumor Board.

Concurrent Session 4C Cancer and Precision Medicine

Dr. Nelson is the Fred C. Andersen Professor of Surgery at Mayo Clinic in Rochester, Minn., Chair of the Department of Surgery and past Chair of the Division of Colon and Rectal Surgery.

Dr. Nelson received her medical degree from the University of Washington, School of Medicine, completed her General Surgery Residency at Oregon Health and Science University and her fellowship training in Colon and Rectal Surgery at Mayo Clinic. Dr. Nelson’s long standing research interests parallel her clinical work in colon and rectal cancer. She was the PI of the National Cancer Institute (NCI)-grant and lead investigator for the National Institutes of Health (NIH)-funded laparoscopic colectomy for cancer trial. She has been the recipient of numerous nationally funded grants and is widely published in high impact journals. In addition to her own basic and clinical laboratory work she has held several research leadership roles including past program director within the Mayo Clinic Cancer Center and current director of the Mayo Microbiome Program in the Mayo Clinic Center for Individualized Medicine. Within the NCI Cooperative Groups she was the Vice Chair of the North Central Cancer Treatment Group and then served as a Group Chair of American College of Surgeons Oncology Group. She has been on the faculty for the AACR/ASCO Methods in Clinical Cancer Research Workshop for a three year term, a member and then chair of two NIH (NCI) study sections including, Subcommittee H (Cooperative Group Study Section), Clinical Oncology and a member of the NCI Clinical Trials Advisory Committee.

Concurrent Session 1B The New Frontier - Next Generation Sequencing Based Microbial Diagnostics

Dr. Nowakowski is a consultant and chair of education in the Division of Hematology at Mayo Clinic.He is also an assistant professor of medicine in Mayo Clinic College of Medicine and program director of the Hematology/Oncology Fellowship in Mayo School of Graduate Medical Education.

Dr. Nowakowski received his M.D. from the Medical University of Warsaw, Poland. He completed his internal medicine residency at Norwalk Hospital in Norwalk, Conn., and his fellowship in hematology-oncology at Mayo Clinic. Dr. Nowakowski joined the Mayo Clinic lymphoma group in 2006 as a Mayo Foundation Scholar.

Dr. Nowakowski's research focuses on molecular classification, biology and novel therapies of lymphoproliferative disorders. Dr. Nowakowski is the principal investigator of multiple investigator-initiated and cooperative group clinical trials. He also serves as scientific officer in the Academic and Community Cancer Research United (ACCRU), where he is responsible for overseeing hematology clinical trials.

Dr. Nowakowski is an alumnus of the American Society of Hematology (ASH) Clinical Research Training Institute. He served as a member of the ASH Committee on Scientific Affairs. He also chairs the American Society of Clinical Oncology Lymphoma and Myeloma Education Committee for 2014-2015.

Concurrent Session 4D Epigenomics to Therapy: Emerging Agents

Dr. Robin Patel graduated from Princeton University with a BA in Chemistry in 1985 and from McGill University in Montreal, Canada with an M.D.(C.M.) in 1989. She then moved to Rochester, Minnesota, where she completed residencies in Internal Medicine and Microbiology and a fellowship in Infectious Diseases at the College of Medicine, Mayo Clinic. In 1996, upon completion of post-graduate training, she joined the staff of Mayo Clinic. She is currently Professor of Medicine, and Professor of Microbiology, Director of the Clinical Bacteriology Laboratory and the Infectious Diseases Research Laboratory, and Chair of the Division of Clinical Microbiology, Mayo Clinic.

Dr. Patel’s research focuses on clinical bacteriology diagnostic testing, antimicrobial resistance, and microbial biofilms. She has published over 250 peer reviewed manuscripts and has delivered numerous national and international presentations. She is a Fellow of American Academy of Microbiology, a past member of the IDWeek Program Planning Committee, the chair of the United States Medical Licensing Examination Microbiology and Immunology Test Material Development Committee and the chair of the ASM Microbe 2016 Program Planning Committee. She is an associate editor for the Journal of Clinical Microbiology, and the course director for the Mayo Medical School Microbiology course.

Concurrent Session 1B The New Frontier - Next Generation Sequencing Based Microbial Diagnostics

Dr. Petrosino is an associate professor of molecular virology and microbiology at Baylor College of Medicine, where he also holds joint appointments in the Human Genome Sequencing Center, and the Department of Ophthalmology. Dr. Petrosino was a principal investigator for the National Institutes of Health (NIH) Common Fund Human Microbiome Project and has since established and directs the Alkek Center for Metagenomics and Microbiome Research (CMMR). With over 150 collaborations, the CMMR is pursuing over 300 metagenomics projects internationally with the goal to improve human health through detection and modulation of the microbiome and to translate new discoveries into new diagnostics and therapeutics. Among the latest CMMR projects initiated is a comprehensive microbiome analysis of 20,000+ type 1 diabetes samples from the NIH/NIDDK TEDDY (The Environmental Determinants of Diabetes in the Young) prospective cohort with the goal to identify microbial taxonomic and functional associations, and potentially triggers, for this disease. From 2012-2014, Dr. Petrosino was an American Society for Microbiology Distinguished lecturer and has contributed to more than 70 peer-reviewed microbiome studies since 2011, when the CMMR was founded.

Concurrent Session 1B The New Frontier - Next Generation Sequencing Based Microbial Diagnostics

Dr. Prokop is a senior scientist with HudsonAlpha Institute for Biotechnology. His research focus is on combining in silico tools with bench top research to understand proteins, how they evolve, what regulated their expression, and how modifications alter their function. His group utilizes computer tools such as evolutionary analysis, promoter analysis, codon selection, protein modeling, and molecular dynamic simulations, to name a few, in order to study what features of proteins are conserved and how those elements may function. This computer work is currently funded by the National Institutes of Health (NIH) Big Data to Knowledge initiative to develop a deep Sequence-to-Structure-to-Function analysis for disease variants. Once his group has computer generated hypotheses for function, they utilize biochemistry, molecular genetics, and physiological approaches to test their predictions. Recently, Dr. Prokop’s work has focused in two areas, using evolution to determine novel peptide inhibitors/activators, particularly in signaling biology and studying genetic variants that contribute to disease. For diseases his group is currently focusing on utilization of whole genome sequencing for rare/undiagnosed diseases in addition to dissecting the mechanisms for Genome Wide Association Data (GWAS) in common diseases such as cardiovascular/kidney disease and cancer.

Concurrent Session 2C Functional Studies to Disambiguate Variants of Uncertain Significance in Clinical Testing

Dr. Saunders is an Associate Professor of Pathology at the University of Missouri-Kansas City School of Medicine, and Clinical Director of the Center for Pediatric Genomic Medicine at Children's Mercy Hospital.

Dr. Saunders received a Ph.D. with honors in Molecular Biology at The University of Kansas, and completed a Post-Doctoral Fellowship in Clinical Molecular Genetics at Emory University School of Medicine.

She has served as director of the Molecular Genetics Laboratory at Children's Mercy since 2002. Dr. Saunders's research interests include the use of next-generation sequencing in both clinical and research settings, identification of new human disease genes, and mitochondrial disease.

Concurrent Session 3D Advances in Genomic Laboratory Medicine

Dr. Swann is a Senior Lecturer in Human Development and Microbiomics within the Division of Computational and Systems Medicine at Imperial College London. He leads a metabonomic-based research program to understand the influence of gene-environment interactions on the mammalian metabolic system and their implications for development, health and disease. His primary interests are in the field of global health exploring the biochemical consequences of under-nutrition and infection in children from the developing world and characterizing the metabolic interactions between the gut microbiome and the host and its role in host development.

Concurrent Session 3C - Transforming Patient Care with Microbiome Research

Jesse Swen Pharm.D., Ph.D. is an associate professor of pharmacogenetics and clinical pharmacist at the Department of Clinical Pharmacy & Toxicology, Leiden University Medical Center. He is a staff member of the laboratory section of the hospital pharmacy, with most of his time devoted to the pharmacogenetics laboratory. His research efforts are in 2 areas. First, he is interested in finding genomic biomarkers for the response to pharmacotherapy in oncology. He is particularly interested in unravelling genetic mechanisms behind the response to antiangiogenic drugs. Second, he is interested in the clinical implementation of pharmacogenomics. He is one of the primary investigators of the “Ubiquitous Pharmacogenomics” project ( This project aims to implement pharmacogenetics across 7 European sites by genotyping 8,000 patients. Dr. Swen has published multiple papers on the identification of barriers for clinical implementation of pharmacogenomics and the development of approaches to overcome them. In addition he has (co)authored pharmacogenomic guidelines and is actively involved in the Dutch Pharmacogenetics Working Group and the international Clinical Pharmacogenetics Implementation Consortium.

Concurrent Session 2D Pharmacogenomics Guidelines: International and US Perspectives

Pharmacogenomics (PGx) Applying PGx with the Clinical Pharmacogenetics Implementation Consortium (CPIC) and the Dutch Pharmacogenetic Work Group (DPWG)

Dr. Wick is a Consultant and Assistant Professor in the Department of Obstetrics and Gynecology and the Department of Medical Genetics. She is board certified by the American Board of Obstetricians and Gynecologists and the American Board of Medical Genetics. Dr. Wick received her Ph.D. from Mayo Graduate School of Medicine and her M.D. from Mayo Medical School. She completed residencies in the Department of Obstetrics and Gynecology and the Department of Medical Genetics through the Mayo Graduate School of Medicine.

Dr. Wick’s clinical practice focuses on prenatal genetics and the genetics of hereditary cancer syndromes, particularly those syndromes associated with gynecologic cancers. Research interests include bio-banking of umbilical cord blood and placental tissue, epigenetic markers in fetal alcohol syndrome, the genetics of hypoplastic left heart syndrome, and prenatal molecular diagnostics. She is a member of the Mayo Clinic Genomic Odyssey Board, the Department of Laboratory Medicine and Pathology Prenatal Disease Oriented Group and the Hereditary Cancer Disease Oriented Group. She is also a teacher for the Year One Genetics through the Mayo Medical School and has been a reviewer for the Mayo Clinic Proceedings journal since 2013.

Concurrent Session 2A Utility of Genetic Testing: Promises and Pitfalls

Friday Session Speakers

Dr. Aida Lteif graduated with an M.D. degree from St. Joseph University in 1992. She did her pediatric residency training at SUNY in upstate New York and her pediatric endocrinology fellowship training at Mayo Clinic in Rochester, Minnesota. She is currently an assistant professor of pediatrics and the chair of the Division of Pediatric endocrinology at Mayo Clinic, Rochester, Minnesota. Dr. Lteif’s clinical research interest evolves around the topics of adrenal and pituitary disorders in addition to the topic of pediatric diabetes.

Minnesota Neurofibromatosis (NF) Symposium: Growth in Children with NF1