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Generating Evidence for Genomic Diagnostic Test Development: Workshop Summary Appendix B Speaker Biographical Sketches Robert L. Becker, Jr., M.D., Ph.D., is chief medical officer for the Office of In Vitro Diagnostic Devices Evaluation and Safety (OIVD), Center for Devices and Radiological Health (CDRH), at the U.S. Food and Drug Administration, with special attention to inter-office coordination on regulation of newly emerging genetic and genomic IVDs. Dr. Becker previously served as director of the Division of Hematology and Immunology Devices in OIVD. He is experienced in regulation of IVDs aimed at cell- and tissue-based specimens (e.g., classical hematology, flow cytometry, cytology, and histopathology) as well as of blood coagulation tests and immunoserologic tests. Dr. Becker earned his M.D. and Ph.D. in immunology at Duke University, and he is board certified in anatomic and clinical pathology. He served in the U.S. Air Force as a pathologist at the Armed Forces Institute of Pathology, Washington, DC, from 1983 to 2004, specializing in urologic pathology and with research and clinical service applying image analysis and flow cytometry to diagnostic pathology. Ned Calonge, M.D., M.P.H., is the president and chief executive officer of the Colorado Trust, a philanthropic foundation dedicated to advancing the health and well-being of the people of Colorado. He is an associate professor of family medicine at the Colorado School of Medicine, University of Colorado, Denver, and an associate professor of epidemiology at the Colorado School of Public Health. Outside of the trust, Dr. Calonge is a member and past president of the Colorado Medical Board, which licenses and regulates physicians. He teaches epidemiology, biostatistics and research methods at the University of Colorado Schools of Medicine and Public
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Generating Evidence for Genomic Diagnostic Test Development: Workshop Summary Health. He is a member of the Delta Dental Foundation Board and chairs the board of directors for LiveWell, Colorado. Nationally, Dr. Calonge is the chair of the United States Preventive Services Task Force and a member of the Centers for Disease Control and Prevention’s (CDC’s) Task Force on Community Preventive Services. He is the chair of the CDC’s Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Workgroup and is a member of the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children in the Maternal and Child Health Bureau in the Health Resources and Services Administration. Dr. Calonge received his B.A. in chemistry from the Colorado College, his M.D. from the University of Colorado and his M.P.H. from the University of Washington; he is board certified in both family medicine and preventive medicine. Prior to coming to the trust, Dr. Calonge was the chief medical officer of the Colorado Department of Public Health and Environment. Aled Edwards, Ph.D., is Banbury Professor of Medical Research at the University of Toronto, visiting professor of chemical biology at the University of Oxford, and chief executive of the Structural Genomics Consortium (SGC), an Anglo–Canadian–Swedish public-private partnership created to increase substantially the number of protein structures of relevance to human health available in the public domain, without restriction on use. Funded by industry, governments, and charitable foundations, the SGC accounts for more than a quarter of the world’s output of human protein structures and more than 75 percent of the world’s output of proteins from the parasites that cause malaria, toxoplasmosis, and cryptosporidiosis. Dr. Edwards believes that the discovery of new medicines would be most efficiently accomplished by performing many aspects of drug discovery research, from discovery to clinical proof of concept, within pre-competitive research consortia, and by de-emphasizing the perceived value of patents. Dr. Edwards was scientific consultant for the Canadian dramatic TV series, ReGenesis, and has founded a number biotechnology companies. Robert S. Epstein, M.D., M.S., is chief medical officer and president, Medco Research Institute, Medco Health Solutions, Inc. Dr. Epstein joined Medco in 1995 and has served as chief medical officer since 1997. In this capacity, he is responsible for formulary development, clinical guidelines, drug information services, accreditation oversight, and personalized medicine services. He is also responsible for analysis and reporting for Medco’s clients. In 2009, Dr. Epstein was named president of the Medco Research Institute, where he oversees Medco’s peer-reviewed research initiatives and collaborations in the areas of personalized medicine, comparative effectiveness, and chronic conditions. Dr. Epstein was trained as an epidemiologist and worked in public health and academia
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Generating Evidence for Genomic Diagnostic Test Development: Workshop Summary before joining the private sector. He is a past elected president of the International Society of Pharmacoeconomics and Outcomes Research and has served on the board of directors for the Drug Information Association. In 2008, Dr. Epstein was nominated and elected to the stakeholder group of the Evaluation of Genomic Applications in Practice and Prevention of the Centers for Disease Control and Prevention as well as the Agency for Healthcare Research and Quality Centers for Education and Research on Therapeutics steering committee. He has published more than 50 peer-reviewed medical articles and book chapters and serves as a reviewer for several influential medical journals. Gregory G. Germino, M.D., is the deputy director of the National Institute of Diabetes and Digestive and Kidney Diseases, a senior investigator in its intramural program, and an adjunct professor of medicine at the Johns Hopkins School of Medicine. He received his medical degree from the Pritzker School of Medicine at the University of Chicago in 1983 and pursued clinical training in internal medicine and nephrology at Yale–New Haven Hospital. He spent a research year in the Nuffield Department of Medicine at Oxford University in the department of Sir David Weatherall before returning to Yale to complete his research training in nephrology. He joined the faculty of the Johns Hopkins University School of Medicine in 1992 and became a professor in the Department of Medicine and in the Department of Molecular Biology and Genetics in 2003. He was an affiliate member of the McKusick-Nathans Institute of Genetic Medicine from 2002 to 2009. Dr. Germino moved to the National Institutes of Health in 2009 to assume his current position. Dr. Germino served on the scientific advisory board of the Polycystic Kidney Research Foundation from 1994 to 2000 and was a councilor of the American Society of Clinical Investigation from 2004 to 2006 as well as a member of the board of directors of the Federation of American Societies for Experimental Biology from 2004 to 2009. His research interests are in genetic renal disease. Daniel Fleming Hayes, M.D., is the clinical director of the breast oncology program at the University of Michigan Comprehensive Cancer Center (UM CCC), where he is the Stuart B. Padnos Professor of Breast Cancer Research. He received a bachelor’s degree (1974) and a master’s degree (1977) from Indiana University. He received his M.D. from the Indiana University School of Medicine in 1979, followed by a residency in internal medicine at the University of Texas Health Science Center at Dallas (Parkland Memorial and affiliated hospitals). He served a fellowship in medical oncology from 1982 to 1985 at Harvard’s Dana Farber Cancer Institute (DFCI) in Boston. In 1992, he assumed the role of the medical director of the Breast Evaluation Center at DFCI. He held that title until
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Generating Evidence for Genomic Diagnostic Test Development: Workshop Summary 1996, when he moved to the Georgetown University Lombardi Cancer Center. In 2001, Dr. Hayes joined the UM CCC and continues treating patients and doing research in translational science. Dr. Hayes and colleagues published the first reports concerning the development of the CA15-3 blood test, which is currently used worldwide to evaluate patients with breast cancer. He has become an internationally recognized leader in the use of this and other tumor markers, such as HER-2, circulating tumor cells, and pharmacogenomics. In 2007, he was awarded the American Society of Clinical Oncology’s Gianni Bonadonna Breast Cancer Award. He is chair of the Breast Cancer Translational Medicine Committee of the Southwest Oncology Group and chair of the Correlative Sciences Committee of the U.S. Breast Cancer Intergroup, and he co-chairs the Expert Panel for Tumor Marker Practice Guidelines for the American Society of Clinical Oncology. Roger D. Klein, M.D., J.D., is director of the Molecular Oncology Laboratory at the BloodCenter of Wisconsin’s Diagnostic Laboratories. He has focused on DNA- and RNA-based testing for evaluation of cancer patients. He has helped to expand the BloodCenter’s services to diagnose and treat patients with blood-related cancers. Previously, Dr. Klein worked at the H. Lee Moffitt Cancer Center, where he served as medical director of molecular diagnostics, and was an assistant professor in the Department of Oncologic Sciences at the University of South Florida Medical School. Dr. Klein’s academic and clinical efforts focus on the translation of molecular genetics knowledge into clinical diagnostic tests. In addition, Dr. Klein has an active research program involving the ethical, legal, and social implications of the Human Genome Project, with particular emphasis on the areas of intellectual property and the regulation of in vitro diagnostics and clinical laboratories. Dr. Klein is a member of the Evaluation of Genomic Applications in Practice and Prevention working group of the Centers for Disease Control and Prevention and a consultant to the Clinical and Molecular Genetics Advisory Panel of the U.S. Food and Drug Administration. He also serves on the College of American Pathologists’ Molecular Oncology Resource Committee, and the Association for Molecular Pathology’s professional relations and CPT coding committees. Dr. Klein has a B.A. degree in chemistry from Case Western Reserve University, magna cum laude, where he was a member of Phi Beta Kappa and Phi Alpha Theta. He has an M.D. from Case Western Reserve University and earned a J.D. degree from Yale Law School, where he was an Olin Fellow and served as an articles editor of the Yale Journal on Regulation. Eric Larson, M.D., M.P.H., MACP, is executive director of the Group Health Research Institute. A graduate of Harvard Medical School, he trained in internal medicine at Beth Israel Hospital in Boston, completed
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Generating Evidence for Genomic Diagnostic Test Development: Workshop Summary a Robert Wood Johnson Clinical Scholars and masters of public health program at the University of Washington, and then served as chief resident of University Hospital in Seattle. He served as medical director of the University of Washington Medical Center and associate dean for clinical affairs from l989 to 2002. His research spans a range of general medicine topics and has focused on aging and dementia, including a long running study of aging and cognitive change set in the Group Health Cooperative—The UW/Group Health Alzheimer’s Disease Patient Registry/Adult Changes in Thought Study. He has served as president of the Society of General Internal Medicine, chair of the Office of Technology Assessment (OTA)/Department of Health and Human Services Advisory Panel on Alzheimer’s Disease and Related Disorders, and chair of the board of regents of the American College of Physicians (2004–2005). He is an elected member of the Institute of Medicine of the National Academy of Sciences. Debra Leonard, M.D., Ph.D., received her M.D. and Ph.D. from the New York University School of Medicine, and is currently professor and vice chair for laboratory medicine in the Department of Pathology and Laboratory Medicine, and director of the clinical laboratories for New York–Presbyterian Hospital’s Cornell campus (NYPH–WCMC). She is also director of the pathology residency training program at NYPH–WCMC. Dr. Leonard was previously director of molecular pathology at the University of Pennsylvania School of Medicine and is a nationally recognized expert in molecular pathology. She has served on several national committees that develop policy for the use of genetic and genomic technologies and information, including most recently the Secretary’s Advisory Committee on Genetics, Health and Society that advises the Secretary of Health and Human Services. Dr. Leonard is editor of two molecular pathology textbooks and has spoken widely on various molecular pathology test services, the future of molecular pathology, and the impact of gene patents on molecular pathology practice. Dr. Leonard is interested in the use of genomic technologies in the practice of medicine to improve patient outcomes. Caryn Lerman, Ph.D., is the Mary W. Calkins Professor in the Department of Psychiatry and the Annenberg Public Policy Center, and the interim director of the Abramson Cancer Center at the University of Pennsylvania. She also directs Penn’s Center for Interdisciplinary Research on Nicotine Addiction. Dr. Lerman’s work focuses on the translation of research in genetics, pharmacology, and neuroscience to develop and improve treatments for nicotine addiction. She was among the first to publish evidence for genetic influences on smoking behavior and to study genetic modifiers of response to pharmacotherapy for nicotine addiction. The ultimate goal of her research program is to translate these findings to clinical practice
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Generating Evidence for Genomic Diagnostic Test Development: Workshop Summary in the form of personalized medicine for smoking cessation. Dr. Lerman is a member of the Institute of Medicine. Additional honors include the American Psychological Association Award for Outstanding Contributions to Health Psychology, the American Society of Preventive Oncology Cullen Award for Tobacco Research, and the Alton Ochsner Award for Research Relating Tobacco and Health. She is currently the president of the Society for Research on Nicotine and Tobacco. Dr. Lerman serves on the National Institute on Drug Abuse Advisory Council, and is a former member of the National Cancer Institute board of scientific advisors, and the National Advisory Council for Human Genome Research. Leslie Levin, M.B., M.D., FRCP, FRCPC, is the senior medical, scientific and health technology advisor to the Ministry of Health and Long-Term Care (MOHLTC) and head of the Medical Advisory Secretariat (MAS), which is mandated to provide evidentiary platforms for policy decision making. In this capacity, Dr. Levin has overall leadership in evidence-based assessment relating to all health technologies, including equipment, devices, medical and surgical interventions, and health systems. In these initiatives Dr. Levin works closely with the leadership of Academic Health Science Centers, academia, and industry. Dr. Levin was instrumental in creating the Ontario Health Technology Advisory Committee, which advises the MOHLTC on the adoption of all non-drug health technologies. He was a member of the Canadian Task Force on Health Technology. Dr. Levin initiated the Cancer Care Ontario evidence-based cancer guidelines initiative as vice president of Cancer Care Ontario, and he was instrumental in creating a unique evidence-based provincial cancer drug program. He has published in the area of health technology assessment, evidence-based analysis, and chemotherapy dose intensity research in addition to numerous other cancer research publications. He is a member of the Health Technology Assessment Council of the International Society of Pharmacoeconomics and Clinical Outcomes, a member of the medical advisory panel of Blue Cross and Blue Shield (U.S.), and a director on the board of the International Network of Agencies for Health Technology Assessment. Dr. Levin has senior leadership experience in public and hospital health and in academic administration in addition to experience in clinical and wet bench research. Dr. Levin has advised governments and funding agencies on evidence-based policy decision-making in Canada, the United States, Scotland, Australia, and China and has forged academic collaborations internationally. Dr. Levin is a professor in the Department of Medicine, University of Toronto, and is a senior consultant in medical oncology at the Princess Margaret Hospital. Prior to this, he was professor and chair of the Department of Oncology at the University of Western Ontario and chief executive officer of the London Regional Cancer Centre. His M.D. was awarded by the University
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Generating Evidence for Genomic Diagnostic Test Development: Workshop Summary of Birmingham for research in cancer immunology, and he has Royal College certification in internal medicine. Elizabeth Mansfield, Ph.D., is the director of the personalized medicine staff in the Office of In Vitro Diagnostic Device Evaluation and Safety (OIVD) at the Center for Devices and Radiological Health at the U.S. Food and Drug Administration (FDA), where she is developing a program to address companion and novel diagnostic devices. She was previously a senior policy analyst in OIVD, managing policy and scientific issues. Dr. Mansfield served as the director of regulatory affairs at Affymetrix, Inc. from 2004 to 2006. She previously served in other positions at FDA, including scientific reviewer and genetics expert. Dr. Mansfield received her Ph.D. from Johns Hopkins University and completed further postdoctoral training at the National Cancer Institute and the National Institute for Arthritis, Musculoskeletal, and Skin Diseases. Margaret Piper, Ph.D., M.P.H., is the director of genomics resources at the Blue Cross and Blue Shield Association Technology Evaluation Center (TEC, www.bcbs.com/tec), an evidence-based practice center funded by the Agency for Healthcare Research and Quality (AHRQ–EPC). She has been with TEC since 1994, joining the staff full-time in 1999. Her experience at TEC has focused on systematic reviews of medical technology, including topics in autoimmunity and transplantation, oncology, laboratory medicine, and genomics/genetic testing. Dr. Piper has authored over 30 TEC systematic reviews and reports and has co-authored 4 AHRQ–EPC reports. Among other outreach activities, Dr. Piper has served on the Medicare Evidence Development & Coverage Advisory Committee of the Centers for Medicare and Medicaid Services and on a work group for the Institute for Quality in Laboratory Medicine, and she currently serves on the working group for the Evaluation of Genomic Applications in Practice and Prevention (EGAPP) project of the Centers for Disease Control and Prevention (CDC). Roles of the EGAPP working group include establishing methods and process for evidence-based evaluation of genetic tests, prioritizing and selecting topics for review, participating in technical expert panels for commissioned evidence reviews, and developing conclusions or recommendations based on the evidence. In addition to these activities, Dr. Piper has given presentations on evidence-based evaluation of genetic tests at meetings organized by the Institute of Medicine, AHRQ, and the National Cancer Institute (NCI). Prior experience includes over 13 years of managing a variety of clinical diagnostic laboratory departments in both academic hospital and commercial clinical laboratory settings, designing and evaluating new laboratory diagnostics for the biomedical industry, consulting with physicians, publishing, and volunteer teaching for professional organiza-
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Generating Evidence for Genomic Diagnostic Test Development: Workshop Summary tions in laboratory medicine. In 2000, Dr. Piper received a distinguished service award from the American Society of Clinical Pathologists Commission on Continuing Education. Following a mid-career NCI fellowship in cancer prevention and control, which included obtaining an M.P.H. in epidemiology, Dr. Piper gained experience in cancer epidemiology at the NCI and subsequently at the CDC, with a focus on cancer genetics. Dr. Piper has a B.S. in molecular biology (University of Wisconsin–Madison), a Ph.D. in immunology (Duke University), and an M.P.H. in epidemiology (Emory University). David F. Ransohoff, M.D., is an internist (gastroenterology, University of Chicago) and clinical epidemiologist (research methodology, Yale University) with long-standing interest in improving the methods used to evaluate diagnostic tests, particularly for screening. He and clinical epidemiology mentor Alvan Feinstein wrote one of the first papers about methodologic challenges in evaluating diagnostic tests. After years of research on conventional tests for cancer and other diseases, he extended his work, starting 10 years ago, to include molecular tests, after being introduced to this area by EXACT Sciences (stool DNA markers for colon cancer) and by a sabbatical supported by the National Cancer Institute (NCI). At the University of North Carolina at Chapel Hill, Dr. Ransohoff directs a faculty development program in translational research, and he works closely with staff and investigators in NCI’s Division of Cancer Prevention and other NCI groups on topics related to molecular markers for cancer. His areas of expertise include clinical epidemiology, methodology for evaluating diagnostic tests, cancer screening, and internal medicine. Richard Simon, D.Sc., is chief of the Biometric Research Branch (BRB) of the National Cancer Institute (NCI) (http://linus.nci.nih.gov/brb), where he is chief statistician for the Division of Cancer Diagnosis and Treatment. He holds a doctoral degree in applied mathematics and computer science from Washington University in St. Louis, Missouri. With over 450 publications, he has developed statistical methods widely used today in clinical trials. Dr. Simon is an elected member of the American Statistical Association, a former member of the National Research Council Committee on Theoretical and Applied Statistics, and a former member of the Oncologic Drug Advisory Committee of the U.S. Food and Drug Administration. He is a member of the editorial board of several journals in the areas of cancer research and bioinformatics. In 1998, Dr. Simon established the Molecular Statistics and Bioinformatics Section of the NCI, a multi-disciplinary group of scientists developing and applying methods for the application of genomics data to cancer therapeutics. He is involved in the training of statistical and computational scientists in trans-disciplinary research. He is the archi-
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Generating Evidence for Genomic Diagnostic Test Development: Workshop Summary tect of BRB-ArrayTools software for the analysis of microarray expression and copy number data; with over 10,000 registered users in 65 countries, it has been cited in over 1,000 publications. Sharon Terry, M.A., is president and chief executive officer of the Genetic Alliance, a coalition of over 600 disease specific advocacy organizations working to increase capacity in advocacy organizations and to leverage the voices of the millions of individuals and families affected by genetic conditions. She is the founding executive director of PXE International, a research advocacy organization for the genetic condition pseudoxanthoma elasticum (PXE). She is at the forefront of consumer participation in genetics research, services, and policy and serves as a member of many of the major governmental advisory committees on medical research, including the Cellular, Tissue and Gene Therapies Advisory Committee of the U.S. Food and Drug Administration and the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children. She is a member of the board of directors of the Biotechnology Institute and is on the advisory board of the Johns Hopkins Genetics and Public Policy Center funded by the Pew Charitable Trusts. She is the chair of the Coalition for Genetic Fairness, composed of advocates, health-care providers, and industry, which is working to enact effective federal policy to prohibit genetic information discrimination. She is also chair of the Social Issues Committee of the American Society of Human Genetics. In 2005, she received an honorary doctorate from Iona College for her work in community engagement and haplotype mapping. Ms. Terry is a co-founder of the Genetic Alliance Biobank and serves as president of its board. It is a centralized biological and data [consent/clinical/environmental] repository catalyzing translational genomic research on rare genetic diseases. The biobank works in partnership with academic and industrial collaborators to develop novel diagnostics and therapeutics to better understand and treat these diseases. Along with the other co-inventors of the gene associated with PXE (ABCC6), she holds the patent for the invention. She codirects a 19-lab research consortium and manages 52 offices worldwide for PXE International. Sean Tunis, M.D., M.Sc., is the founder and director of the Center for Medical Technology Policy in Baltimore, Maryland. Dr. Tunis was a member of the Institute of Medicine Committee on Initial National Priorities for Comparative Effectiveness Research. He advises a wide range of domestic and international public and private healthcare organizations on issues of comparative effectiveness, evidence-based medicine, clinical research, reimbursement, and health technology policy. Through September 2005, Dr. Tunis was the director of the Office of Clinical Standards and Quality
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Generating Evidence for Genomic Diagnostic Test Development: Workshop Summary and chief medical officer at the Centers for Medicare and Medicaid Services (CMS). In this role he had lead responsibility for clinical policy and quality for the Medicare and Medicaid programs, which provide health coverage to over 100 million U.S. citizens. Dr. Tunis supervised the development of national coverage policies, quality standards for Medicare and Medicaid providers, quality measurement and public reporting initiatives, and the Quality Improvement Organization program. As chief medical officer, Dr. Tunis served as the senior advisor to the CMS administrator on clinical and scientific policy. He also co-chaired the CMS Council on Technology and Innovation. Dr. Tunis joined CMS in 2000 as the director of the coverage and analysis group. Before joining CMS, Dr. Tunis was a senior research scientist with the Technology Assessment Group, where his focus was on the design and implementation of prospective comparative effectiveness trials and clinical registries. Dr. Tunis also served as the director of the health program at the congressional Office of Technology Assessment and as a health policy advisor to the U.S. Senate Committee on Labor and Human Resources, where he participated in policy development regarding pharmaceutical and device regulation. He received a B.S. degree in biology and history of science from the Cornell University School of Agriculture and a medical degree and masters in health services research from the Stanford University School of Medicine. Dr. Tunis did his residency training at UCLA and the University of Maryland in emergency medicine and internal medicine. He is board certified in internal medicine and holds adjunct faculty appointments at Johns Hopkins University, Stanford University, and the University of California San Francisco schools of medicine.