
Program Schedule
Wednesday, August 15: 5:00 pm - 9:00 pm | |
We’ll begin our course by exploring proven approaches to laboratory stewardship of ID and cancer tests with a deep dive into issues of syndromic multiplex pathogen detection including NGS. Current approaches to genotypic bacterial resistance testing will be discussed as well as next generation phenotypic approaches. In addition, the impact of the dramatic reemergence of HIV and HCV infection driven by the opioid crisis will be discussed with an update on testing. | |
Gary Procop, MD, MS
![]() Gary Procop, MD, MSProfessor of Pathology, Cleveland Clinic Lerner College of MedicineDirector, Mol. Microbiology, Mycology, Parasitology and Virology Laboratories, Medical Director and Co-Chair, Enterprise Laboratory Stewardship Committee of Medical Operations, Cleveland Clinic Dr. Procop is past Chair of the Departments of Clinical Pathology and Molecular Pathology, and past Section Head for Clinical and Molecular Microbiology. He completed a Bachelor of Science at Eastern Michigan University, followed by an M.D. and M.S. at Marshall University School of Medicine. Residency training in Anatomic and Clinical Pathology training was completed at Duke University Medical Center and a Clinical Microbiology Fellowship at the Mayo Clinic. He is a diplomat of the American Board of Pathology in Anatomic and Clinical Pathology, and Medical Microbiology. He is a Fellow of the American Academy of Microbiology, the College of American Pathologists, and the American Society for Clinical Pathology, the Infectious Diseases Society of America, and the Royal Society of Tropical Medicine and Hygiene. He is a Trustee and a past President of the American Board of Pathology, and a Member of Board of Directors for both American Board of Medical Specialties and the Clinical Laboratory Standards Institute. He has given more than 615 scientific presentations, and has 204 published manuscripts, 49 chapters, and three books to his credit. |
Adventures in Laboratory Stewardship: Improving Quality and Care while Lowering Costs |
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Assessing the Value of Multiplex Syndromic Infectious Disease Panels Panel Discussion: | |
Marc Couturier, PhD, D(ABMM)
![]() Marc Couturier, PhD, D(ABMM)Associate Professor of Pathology University of Utah School of MedicineDr. Couturier is an associate professor of pathology at the University of Utah School of Medicine. He received his PhD in medical microbiology and immunology with a specialty in bacteriology from the University of Alberta in Edmonton, Alberta, Canada. Dr. Couturier served as a research associate/post-doctoral fellow at the Alberta Provincial Laboratory for Public Health and completed a medical microbiology fellowship (ABMM) at the University of Utah. His research interests include Helicobacter pylori diagnostics and population prevalence, in particular identifying populations with increased risk of infection and reduced access to medical care. Dr. Couturier also has a research focus aimed at developing improved diagnostics for emerging agents of infectious gastroenteritis. He is board certified in medical microbiology, and a member of the American Society for Microbiology and Infectious Disease Society of America. Dr. Couturier is the program director for the Medical Microbiology fellowship at the University of Utah/ARUP. |
An Overview of Multi-target Syndromic Testing for Clinical Microbiology |
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Christine C. Ginocchio, PhD, MT(ASCP)
![]() Christine C. Ginocchio, PhD, MT(ASCP)VP, Scientific and Medical Affairs, BioFire DiagnosticsVP, Global Microbiology, bioMerieux Professor of Medicine, Hofstra North Shore-LIJ School of Medicine, NY Christine C. Ginocchio, Ph.D., MT(ASCP) is the VP, Global Microbiology Affairs, bioMérieux, NC and Professor of Medicine, Hofstra North Shore-LIJ School of Medicine, NY. Previously, she was Senior Medical Director and Chief, Division of Infectious Disease Diagnostics, North Shore-LIJ Health System Laboratories, NY. She has 40 years’ experience in clinical diagnostics and has been the principal investigator for more than 60 industry and pharmaceutical clinical trials. Dr. Ginocchio’s areas of extra-mural funded research have included HIV, CMV, respiratory viruses, HPV, antibiotic resistance and molecular diagnostics for infectious diseases. Her awards include the President’s Award and Irving Abrahams Award for outstanding basic science research, the PASCV 2012 award in Diagnostic Virology and the ASM 2013 BD Award for Research in Clinical Microbiology. She is currently the Co-Editor-in-Chief for the Journal of Clinical Virology. Dr. Ginocchio has published 9 book chapters, over 225 peer-reviewed articles/abstracts and has been an invited speaker at over 200 national and international conferences. |
Clinical and Economic Value of Syndromic Testing for Infectious Diseases |
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Kimberly E. Hanson, MD, MHS
![]() Kimberly E. Hanson, MD, MHSAssociate Professor of Medicine and Pathology, University of Utah School of MedicineDr. Hanson is the head of Immuncompromised Host Infectious Diseases Services at the University Hospital and Huntsman Cancer Center, as well as director of Clinical Microbiology at ARUP Laboratories. She is an associate professor of medicine and pathology, splitting her time between patient care, laboratory administration, research and teaching. Dr. Hanson was recruited to the University of Utah in 2008 from Duke University, where she obtained specialty training in adult infectious diseases, medical microbiology, and health sciences research. She maintains an active research program that is focused on the development and validation of novel, cost-effective diagnostic tests for infectious diseases. Dr. Hanson has authored over 60 scientific papers, book chapters, and review articles with a focus on transplant-related infectious diseases and clinical diagnostics. As the Medical Microbiology Fellowship Program director, she is also actively involved in the training of medical students, residents, and fellows within the University of Utah School of Medicine. |
Issues and Controversies from a Clinician Perspective |
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Gary Procop, MD, MS
![]() Gary Procop, MD, MSProfessor of Pathology, Cleveland Clinic Lerner College of MedicineDirector, Mol. Microbiology, Mycology, Parasitology and Virology Laboratories, Medical Director and Co-Chair, Enterprise Laboratory Stewardship Committee of Medical Operations, Cleveland Clinic Dr. Procop is past Chair of the Departments of Clinical Pathology and Molecular Pathology, and past Section Head for Clinical and Molecular Microbiology. He completed a Bachelor of Science at Eastern Michigan University, followed by an M.D. and M.S. at Marshall University School of Medicine. Residency training in Anatomic and Clinical Pathology training was completed at Duke University Medical Center and a Clinical Microbiology Fellowship at the Mayo Clinic. He is a diplomat of the American Board of Pathology in Anatomic and Clinical Pathology, and Medical Microbiology. He is a Fellow of the American Academy of Microbiology, the College of American Pathologists, and the American Society for Clinical Pathology, the Infectious Diseases Society of America, and the Royal Society of Tropical Medicine and Hygiene. He is a Trustee and a past President of the American Board of Pathology, and a Member of Board of Directors for both American Board of Medical Specialties and the Clinical Laboratory Standards Institute. He has given more than 615 scientific presentations, and has 204 published manuscripts, 49 chapters, and three books to his credit. |
Laboratory Stewardship |
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Mark Fisher, PhD, D(ABMM)
![]() Mark Fisher, PhD, D(ABMM)Associate Professor of Pathology, University of Utah School of MedicineDr. Fisher is the medical director of the Bacteriology and Special Microbiology laboratories at ARUP and an associate professor of Pathology at the University of Utah School of Medicine. He earned his PhD in Microbiology and Molecular Genetics from Emory University, completed a basic research postdoctoral fellowship in the genetics and transmission of Lyme Disease at the NIH Rocky Mountain Labs, and completed a Clinical Microbiology fellowship at the University of Utah. He is board certified in medical microbiology, and his research interests include novel infectious disease diagnostics, antimicrobial resistance, and vector-borne transmission of plague. |
Rapid Antimicrobial Susceptibility Testing |
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Robert Schlaberg, MD, Dr Med, MPH
![]() Robert Schlaberg, MD, Dr Med, MPHAssistant Professor of Pathology, University of Utah School of MedicineDr. Schlaberg is an assistant professor of pathology at the University of Utah School of Medicine. He received his MD and doctor medicinæ degrees at the Julius-Maximilians-University in Wuerzburg, Germany and his master of public health at the Mailman School of Public Health at Columbia University in New York City, where he also served as a postdoctoral fellow. Dr. Schlaberg trained in clinical pathology at the Columbia University College of Physicians & Surgeons, where he was the chief clinical pathology resident. He is certified in clinical pathology and medical microbiology by the American Board of Pathology. His research focuses on the use of next-generation sequencing for unbiased pathogen detection and host response-based diagnostics. |
Unbiased Pathogen Detection by NGS - Ready for Primetime? |
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David R. Hillyard, MD
![]() David R. Hillyard, MDProfessor of Pathology, University of Utah School of MedicineMedical Director, Molecular Infectious Diseases, ARUP Laboratories Dr. Hillyard is a professor of pathology at the University of Utah School of Medicine. Dr. Hillyard received his MD from the Columbia University College of Physicians and Surgeons. His training was in anatomic and clinical pathology, with fellowships in medical microbiology and microbial genetics. |
Resurgence of Needle-Transmitted Infectious Disease (HIV, HCV) |
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Thursday, August 16: 7:30 am – 12:30 pm | |
Day two begins with challenges for opioid and monoclonal antibody testing. This is followed by presentations describing innovative tools for genetics such as CRISPR and the use of big data related to thousands of genomes/exomes. Finally, an open panel discussion with the experts, describes diagnostic tools and aspects of germline genetics testing using actual clinical exome cases. | |
Gwen McMillin, PhD
![]() Gwen McMillin, PhDProfessor (Clinical) of Pathology, University of Utah School of MedicineDr. Gwendolyn A. McMillin is a professor at the University of Utah School of Medicine and serves as a Medical Director of Toxicology and Pharmacogenomics at ARUP Laboratories. She received her PhD in pharmacology and toxicology through the College of Pharmacy, completed fellowship training in clinical chemistry, both at the University of Utah, and is certified by the American Board of Clinical Chemistry in clinical chemistry and toxicological chemistry. Dr. McMillin’s research and clinical interests are on novel approaches for drug testing and appropriate utilization of drug and pharmacogenetics testing, with emphasis on detection of the drug-exposed neonate, adherence testing and personalized drug/dose selection. |
Opioids, Cannabis and Benzos, Oh My! Understanding Strengths and Weaknesses of Drug Testing Today |
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Eszter Lazar-Molnar, PhD, D(ABMLI)
![]() Eszter Lazar-Molnar, PhD, D(ABMLI)Assistant Professor of Pathology, University of Utah School of MedicineEszter Lazar-Molnar is an assistant professor in the Department of Pathology at the University of Utah School of Medicine. She is director of Histocompatibility & Immunogenetics Laboratory at the University of Utah, and Medical Director in Immunology at ARUP laboratories where she oversees immunogenicity and functional immune testing. Her research interests include cellular immunology, immunotherapy, and transplantation immunology. |
Implications of Monoclonal Antibody Therapeutics Use for Clinical Laboratory Testing |
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Tools to Use for Diagnostic Odyssey With NGS, testing algorithms have changed tremendously and will continue changing. In this session, we will plan case focus studies. We will discuss methodology, applications by discussing cases. | |
Anne O'Donnell-Luria, MD, PhD
![]() Anne O'Donnell-Luria, MD, PhDAssociate Director, Center for Mendelian GenomicsAnne O'Donnell-Luria is associate director of the Center for Mendelian Genomics at the Broad Institute of MIT and Harvard. She is interested in using large-scale genomic approaches to increasing the rate of rare disease diagnosis through improving rare variant interpretation and empowering the discovery of novel disease genes. She is particularly interested in how we can leverage massive reference population databases such as ExAC and gnomAD in these efforts. She also studies why only some people with a disease-causing genetic variant will develop symptoms, which is known as incomplete penetrance of genetic conditions. O’Donnell-Luria is also a practicing clinician who runs a clinic at Boston Children’s Hospital (BCH) focused on evaluating families with epigenomic disorders. Her training was supported by a Pfizer/ACMG Foundation Translational Genomic Scholars Fellowship. Her research has been recognized by the David W. Smith Peter Duncan Award (2015), BCH Alumni Association Trainee Travel Award (2016), and BCH Medical Staff Organization Faculty Innovated Research Award (2017). Prior to joining the Broad Institute in 2015, O'Donnell-Luria completed her M.D./Ph.D. training at Columbia University Medical Center, where her thesis work was on the role of DNA methylation in the pathophysiology of complex disease, particularly breast cancer and psychiatric disease. This was followed by the Five-Year Boston Children's Hospital and Harvard Medical School Combined Pediatrics-Genetics Residency Program and an additional year of clinical training in medical biochemical genetics. She spent 18 months as a clinical fellow in the MacArthur laboratory at the Broad Institute before taking her current post. |
Big Data: Genomic Reference Databases to Empower Mendelian Diagnosis |
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The Genomics Journey Case Discussions: | |
John Carey, MD
![]() John Carey, MDProfessor and Vice Chair of Academic Affairs, Department of Pediatrics University of UtahJohn C. Carey, MD, MPH, is Professor and Vice Chair of Academic Affairs, Department of Pediatrics, at the University of Utah. Throughout his career, Dr. Carey has been interested in birth defect syndromes and the care of children with these conditions. Dr. Carey graduated from Villanova University in 1968 with an A.B. and obtained his M.D. from Georgetown University School of Medicine in 1972. He trained in pediatrics, genetics and dysmorphology as a resident and fellow at the University of California San Francisco, 1972-1979. Dr. Carey obtained an M.P.H. from the University of California at Berkeley in 1976 in between his residency and fellowship years. Dr. Carey joined the faculty at University of Utah Health Sciences Center in 1979. He became Chief of the Division of Medical Genetics in 1985 and remained in that leadership position until 1999 when he stepped down to assume the role as Editor-in-Chief of the American Journal of Medical Genetics. He has held that editorial position since 2001. Dr. Carey established the Medical Genetics Fellowship Program at the University of Utah and continues as Program Director. Dr. Carey’s research focus has been in congenital malformations, neurofibromatosis and syndrome delineation. He has authored or co-authored over 280 papers, chapters, invited articles and editorials for scientific journals. He also co-authored the textbook, “Medical Genetics,” by Jorde, Carey, & Bamshad, now in its 4th edition. The book is a widely used text in schools of medicine throughout North America and Europe. Dr. Carey has served as medical adviser and “founding professional” for the Support Organization for Trisomy 18, 13 and Related Disorders (SOFT) since 1980. The medical and ethical aspects of care of infants and children with these conditions are currently some of his major academic interests. |
Decision-Making Process for Ordering Genomic Tests: Pros & Cons of Testing Approaches and Conversations with Family |
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Pinar Bayrak-Toydemir, MD, PhD
![]() Pinar Bayrak-Toydemir, MD, PhDProfessor of Pathology, University of Utah School of MedicineMedical Director, Molecular Genetics and Genomics, ARUP Laboratories Dr. Bayrak-Toydemir is a professor of pathology at the University of Utah School of Medicine. She received her MD from the Ankara University School of Medicine in Ankara, Turkey, where she also received her PhD in human genetics. Subsequently, she completed her fellowship in clinical molecular genetics at the University of Utah. Dr. Bayrak-Toydemir is board certified in medical genetics, and her research interests include inherited vascular disorders, specifically hereditary hemorrhagic telangiectasia; capillary malformation-arteriovenous malformation syndrome, lymphatic dysplasia, and aortopathies; and implementation of new technologies, such as next generation sequencing, in clinical settings. |
My Journey as a Medical Laboratory Director |
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Hunter Best, PhD, FACMG
![]() Hunter Best, PhD, FACMGAssociate Professor of Clinical Pathology University of Utah School of MedicineDr. Best is an associate professor of clinical pathology at the University of Utah School of Medicine. He received his PhD in molecular and cellular pathology at the University of North Carolina at Chapel Hill and completed a fellowship in clinical molecular genetics at the Vanderbilt University in Nashville. His research focuses on the genetics of pulmonary arterial hypertension. |
Variant Interpretation: Evidence Needed and Evidence Gaps |
Jamie McDonald, MS
![]() Jamie McDonald, MSAssistant Professor of Pathology, University of Utah School of MedicineJamie McDonald is a Licensed Genetic Counselor and Assistant Professor, Department of Pathology at the University of Utah. She received an undergraduate degree from Carleton College in biology and a master’s degree in Genetic Counseling at the University of California at Berkeley. She is certified as a Genetic Counselor by the American Board of Medical Genetics and American Board of Genetic Counseling. Jamie began work at the University of Utah Medical Center in 1988 and worked in the Departments of Pediatrics, Obstetrics and Gynecology and the Huntsman Cancer Institute’s Hereditary Cancer Clinics as a managing genetic counselor before focusing on hereditary hemorrhage telangiectasia (HHT). In 1995 she helped establish the University of Utah HHT Center of Excellence and has been a core member of its multidisciplinary team and the Center Co-Director for many years. |
My Journey as a Patient and Patient Advocate |
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Joshua L. Bonkowsky, MD, PhD
![]() Joshua L. Bonkowsky, MD, PhDAssociate Professor, Pediatrics, Assistant Chief, Division of Pediatric Neurology, Bray Chair in Child Neurology Research, University of Utah School of MedicineJosh Bonkowsky is an associate professor of Pediatrics at the University of Utah School of Medicine. After graduating from Harvard College, he received a Fulbright Fellowship to Vienna, Austria. He received his MD and PhD degrees from the University of California, San Diego, and completed residency training at the University of Utah (pediatrics), Children’s Hospital of Boston and University of Utah (pediatric neurology). A physician-scientist, he studies genetic mechanisms of nervous system development and disease, including prematurity, leukodystrophies, and epilepsy. His bibliography includes over 75 peer-reviewed articles. His lab has been at the forefront of using CRISPR, zebrafish, and other novel tools. Since 2006, Dr. Bonkowsky has personally mentored 49 trainees, 29 of whom are women or minorities. In his “spare” time he enjoys playing with his kids, coaching his daughter’s soccer team, and trail running. |
CRISPR and Diagnostics: Challenges and Strategies for Understanding Results from Sequencing including Variants of Unknown Significance |
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Optional: Lunch with the Experts |
Friday, August 17: 7:30 am – 12:30 pm | |
The third day of the conference will cover emerging clinical applications of next generation sequencing testing in oncology, with emphasis on the applications of somatic and germline data for cancer and cancer predisposition, interpretation and reporting of sequence variants in oncology, and updates in lung cancer molecular testing. Whole genome sequencing for disease prevention and management in healthy adults, machine learning and a practical discussion on bioinformatics infrastructure will also be discussed. Clinical utility and accompanying coding, coverage and payment challenges will be presented, with legal and ethical perspectives of genomic medicine concluding the conference. | |
Colin Pritchard, MD, PhD
![]() Colin Pritchard, MD, PhDAssistant Professor, Laboratory Medicine, University of Washington School of MedicineAssociate Director, Clinical Molecular Genetics Laboratory, UW Medicine Dr. Pritchard is an Associate Professor and Head of the Genetics Division of Laboratory Medicine, as well as the Co-Director of the Genetics and Solid Tumors Laboratory at the University of Washington Medical Center that services the Seattle Cancer Care Alliance (SCCA). Dr. Pritchard undertook his graduate and medical training at the University of Washington. The Pritchard laboratory focuses on oncology molecular diagnostics, particularly the source and utility of cell-free nucleic acid biomarkers in blood, and the development of innovative molecular diagnostics for the identification of DNA repair gene mutations that can guide therapeutic decision-making. His clinical work focuses on applications of next-generation sequencing gene panels for cancer risk assessment and precision treatment. He has led the development and implementation of the ColoSeq™ Lynch and Polyposis Syndrome Panel and UW-OncoPlex™ Cancer Gene Panel in current clinical use for cancer patients and their families. |
Emerging NGS Applications at the Intersection Germline and Somatic Cancer Genetics |
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Deepika Sirohi, MD
![]() Deepika Sirohi, MDAssistant Professor of Pathology, University of Utah School of MedicineDr. Deepika Sirohi is an assistant professor of pathology at the University of Utah, School of Medicine. She received her MD from Armed Forces Medical College in Prune, India and went on to complete her residency in anatomical and clinical pathology at University of Texas Health Science Center at San Antonio. Dr. Sirohi completed fellowship programs in Genitourinary Pathology at Cedar-Sinai Medical Center and Molecular Genetic Pathology at the University of California San Francisco. Her research interests include genomic alterations in urologic malignancies, viral oncogenesis and molecular oncology. |
Interpretation and Reporting of Sequence Variants in Oncology |
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Anna Matynia, MD
![]() Anna Matynia, MDAssistant Professor of Pathology, University of Utah School of MedicineDr. Matynia is an assistant professor of pathology at the University of Utah School of Medicine. She received her MD from the Jagiellonian University in Kraków, Poland, and completed her residency in pathology, as well as fellowships in hematopathology and molecular genetic pathology, at the University of Utah and ARUP Laboratories. Dr. Matynia is certified by the American Board of Pathology in anatomic and clinical pathology, with subspecialty certification in hematology and molecular genetic pathology. Her academic interests include molecular diagnostics of hematolymphoid and solid tumor malignancies. |
Current Landscape of Molecular Testing in Lung Cancer |
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Karl V. Voelkerding, MD, FCAP
![]() Karl V. Voelkerding, MD, FCAPProfessor of Pathology, University of UtahMedical Director, Genomics and Bioinformatics, ARUP Laboratories Karl V. Voelkerding, M.D., received his Bachelor of Science from the Ohio State University in 1978 and his Medical Degree from the University of Cincinnati College of Medicine in 1983. Subsequently, he completed post-doctoral research and clinical training in molecular biology and clinical pathology. In 1990, he joined the faculty of the Department of Pathology and Laboratory Medicine at the University of Wisconsin in Madison, Wisconsin, where he built and directed a molecular diagnostics laboratory while also practicing transfusion medicine. In 2001, Dr. Voelkerding served as President of the Association for Molecular Pathology, and in 2002 he moved to Salt Lake City, Utah to join the ARUP Laboratories. Currently, he is a Professor of Pathology at the University of Utah and a Medical Director of Genomics and Bioinformatics at the ARUP Laboratories. Dr. Voelkerding is board certified in clinical pathology and molecular genetic pathology. He has a longstanding involvement in the translation of new technologies into molecular diagnostics, and this interest has focused over the past several years on next generation sequencing. He is currently the Chair of the College of American Pathologists Genomic Medicine Resource Committee which is responsible for advancing genomic medicine initiatives of CAP. |
Lessons Learned from Establishing a Whole Genome Sequencing Program for Healthy Adults |
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Joshua Coleman, MD
![]() Joshua Coleman, MDAssistant Professor of Pathology, University of Utah School of MedicineJosh Coleman joined the faculty at the University of Utah as a molecular genetic pathologist in July of 2017 with prior experience in both academic pathology and the software industry. His interests include data analysis, information science, and machine learning, especially as applied to genomic and other large biological data sets. |
Machine Learning and Data Science for Genetic Analysis |
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Brendan O’Fallon, PhD
![]() Brendan O’Fallon, PhDBioinformatics Scientist, Sr, ARUP LaboratoriesBrendan is the bioinformatics technical lead for the BioComputing group at ARUP Labs. He has been working at ARUP for 6 years, and previously worked at 23andMe. He completed postdoctoral work in population genetics in the Felsenstein Lab at the Department of Genome Sciences at the University of Washington, and obtained a PhD in biology from the University of Utah. |
Building a Modular, Scalable Bioinformatics Architecture: The ARUP Experience |
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Elaine Lyon, PhD, FACMG
![]() Elaine Lyon, PhD, FACMGProfessor of Pathology, University of Utah School of MedicineDr. Lyon is a professor in the Pathology Department at the University of Utah, and a Medical Director of Molecular Genetics/Genomics at ARUP Laboratories. She participated nationally in developing guidelines such as the “Interpretation of Sequence Variants”. As President of The Association for Molecular Pathology (AMP), she led a Task Force for the Framework for the Evidence Needed to Demonstrate (FEND) Clinical Utility, which resulted in the manuscript on the spectrum of clinical utilities in molecular pathology. She is a member of AMP’s Economic Affairs and Professional Relations committees and on the Molecular Pathology Advisory Group, advising the American Medical Association regarding CPT coding for molecular pathology procedures. |
Evaluating Clinical Utility in Molecular Diagnostics; Coding, Coverage and Payment Challenges |
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Teneille Brown, JD
![]() Teneille Brown, JDProfessor of Law, University of Utah School of MedicineTeneille is a Professor of Law at the University of Utah, S.J. Quinney College of Law. She teaches and researches in the areas of genetics, neuroscience, and health law. Professor Brown received her law degree from the University of Michigan and her undergraduate degree from the University of Pennsylvania. |
Of Needles, Haystacks, and Next-generation Genetic Sequencing: Legal and Ethical Obligations for the Return of Secondary Findings |
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