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Institute of Medicine (US); Roundtable on Translating Genomic-Based Research for Health. The Economics of Genomic Medicine: Workshop Summary. Washington (DC): National Academies Press (US); 2013.
The Economics of Genomic Medicine: Workshop Summary.
Show detailsKatrina Armstrong, M.D., is professor of medicine, chief of the Division of General Internal Medicine, associate director of the Abramson Cancer Center, and codirector of the Robert Wood Johnson Clinical Scholars Program at the Perelman School of Medicine at the University of Pennsylvania. Dr. Armstrong has completed fellowship training in health services research and clinical epidemiology, as well as clinical training in genetic counseling and testing for breast cancer susceptibility. Her research focuses on the translation of genomic discovery into improvements in cancer control, including understanding the social and economic forces that influence this translation. Her research program has received extensive federal funding, including multiple NIH R01 grants, projects in center grants, and awards from the American Cancer Society, the Department of Defense, and the Robert Wood Johnson Foundation. Dr. Armstrong currently leads two National Cancer Institute-funded centers; they are the Center for Comparative Effectiveness of Genomic Medicine and the Penn Center for Innovation in Personalized Screening funded through the Population-based Research Optimizing Screening through Personalized Regimens initiative.
Euan Angus Ashley, M.R.C.P., D.Phil., FACC, FAHA, is assistant professor in the Division of Cardiovascular Medicine at Stanford University, deputy director of the Stanford Cardiovascular Institute, and director of the Stanford Center for Inherited Cardiovascular Disease. Dr. Ashley graduated with first-class honors in physiology and medicine from the University of Glasgow in 1996. After completing residency at the John Radcliffe Hospital of the University of Oxford, he joined the Ph.D. program in molecular cardiology. His work elucidating a role for intramyocardial nitric oxide in cardiac contractility attracted Young Investigator awards from the Medical Research Society of the United Kingdom, the European Society of Cardiology, and the American Heart Association. In 2002 he moved to California to join the Cardiology Division of Stanford University, first as a fellow and later as faculty. His laboratory is focused on the molecular genetics of inherited cardiovascular disease. In 2008 the team was awarded the National Innovation Award from the American Heart Association, and in 2009 Dr. Ashley was awarded the NIH Director’s New Innovator award. In 2010 he led the team that carried out a clinical interpretation of a whole human genome, and in 2011 the team extended the approach to a family of four. Dr. Ashley is part of the Myocardial Applied Genomics Network, a member of the leadership group of the American Heart Association’s Council on Functional Genomics, and codirector of the NIH-funded Research Training Program in Myocardial Biology at Stanford.
Arthur L. Beaudet, M.D., received a B.S. in biology magna cum laude from College of the Holy Cross in 1963 and his M.D. cum laude from Yale University in 1967. He then did 2 years of pediatrics residency at Johns Hopkins Hospital and spent 2 years as a research associate at the National Institutes of Health in Bethesda before going to Baylor College of Medicine (BCM) in 1971, where he has remained to the present. Dr. Beaudet has published more than 250 original research articles on diverse aspects of mammalian genetics. His contributions included the demonstration of mutations in cultured somatic cells in the 1970s at a time when such evidence was still considered novel. He published extensively on inborn errors of metabolism, particularly on urea cycle disorders. In 1988 his group was the first to describe uniparental disomy in humans. He has had long-standing interests in somatic gene therapy and in cystic fibrosis. He has studied genomic imprinting as it relates to Prader-Willi and Angelman syndromes, including identification of the causative role of the UBE3A gene in Angelman syndrome and of the importance of the snoRNA genes in the pathogenesis of Prader-Willi syndrome. In 2004 Beaudet and a BCM team of investigators were the first in the United States to introduce array comparative genomic hybridization into the clinical lab, and they have gone on to play a leadership role in the transformative impact of this technology on clinical genetics. This work has led to a focus on the role of the CHRNA7 neuronal nicotinic receptor gene in mental retardation, autism, and schizophrenia. Dr. Beaudet is one of the editors of the Metabolic and Molecular Bases of Inherited Disease textbook (6th through 8th and electronic editions), and he has served on numerous editorial boards and national review panels. He was president of the American Society of Human Genetics in 1998 and is an elected member of the Association of American Physicians and the Institute of Medicine of the National Academy of Sciences. Dr. Beaudet is currently the Henry and Emma Meyer Distinguished Service Professor and chair of the Department of Molecular and Human Genetics at BCM and Texas Children’s Hospital in Houston.
Paul R. Billings, M.D., Ph.D., is a board-certified internist and clinical geneticist who serves as chief medical officer of Life Technologies Corporation, where he seeks to improve patient care through expanding the use of medically relevant genomic technologies in clinical settings. Dr. Billings brings extensive expertise and health care experience to the areas of genomics and molecular medicine. Most recently, he served as director and chief scientific officer of the Genomic Medicine Institute at El Camino Hospital, the largest community hospital in the Silicon Valley. He has been a member of the Secretary’s Advisory Committee on Genetics, Health and Society at the U.S. Department of Health and Human Services and currently serves on the Scientific Advisory Board of the U.S. Food and Drug Administration and the Genomic Medicine Advisory Committee at the Department of Veterans Affairs. He has been a founder or chief executive officer of companies involved in genetic and diagnostic medicine, including GeneSage, Omicia, and CELLective Dx Corporation.
Wylie Burke, M.D., Ph.D., is professor and chair of the Department of Bioethics and Humanities at the University of Washington. She received a Ph.D. in genetics and an M.D. from the University of Washington and completed a residency in internal medicine at the University of Washington. She was a medical genetics fellow at the University of Washington from 1981 to 1982. From 1983 to 2000, Dr. Burke was a member of the Department of Medicine at the University of Washington, where she served as associate director of the internal medicine residency program and founding director of the University of Washington’s Women’s Health Care Center. She was appointed chair of the Department of Medical History and Ethics (now the Department of Bioethics and Humanities) in October 2000. She is also an adjunct professor of medicine and epidemiology and a member of the Fred Hutchinson Cancer Research Center. She is a member of the Institute of Medicine and the Association of American Physicians and is a past president of the American Society of Human Genetics. Dr. Burke’s research addresses the social, ethical, and policy implications of genetics, including responsible conduct of genetic and genomic research, genetic test evaluation, and implications of genomic health care for underserved populations. She is director of the University of Washington Center for Genomics and Healthcare Equality, a National Human Genome Research Institute Center of Excellence in Ethical, Legal, and Social Implications research, and codirector of the Northwest-Alaska Pharmacogenomics Research Network.
Ned Calonge, M.D., is the president and chief executive officer of The Colorado Trust, which was established in 1985. The Colorado Trust works closely with nonprofit organizations across the state to improve health and well-being. Before joining The Colorado Trust in 2010, Dr. Calonge served as the chief medical officer of the Colorado Department of Public Health and Environment. He also served as the chief of the Department of Preventive Medicine for the Colorado Permanente Medical Group and was a family physician for 10 years. His current academic appointments include serving as associate professor of family medicine, Department of Family Medicine, University of Colorado Denver (UCD) School of Medicine, and associate professor of preventive medicine and biometrics, UCD Colorado School of Public Health. Nationally, Dr. Calonge is the immediate past chair of the U.S. Preventive Services Task Force and a member of the Task Force on Community Preventive Services for the Centers for Disease Control and Prevention (CDC). He is chair of the CDC’s Evaluating Genomic Applications for Practice and Prevention workgroup and is a consultant for and past member of the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children. Dr. Calonge earned a B.A. in chemistry from Colorado College, an M.P.H. from the University of Washington, and an M.D. from the University of Colorado. He was elected to the Institute of Medicine in 2011.
Frederick Chen, M.D., M.P.H., is chief of family medicine at Harborview Medical Center and associate professor in the Department of Family Medicine at the University of Washington, where he teaches health policy, conducts research, and sees patients. He attended medical school at the University of California, San Francisco, and received his master’s of public health in epidemiology from the University of California, Berkeley. After completing his residency in family medicine at the University of Washington, Dr. Chen was a Robert Wood Johnson Clinical Scholar, where he developed his research interest in health policy and medical education. He then moved to Washington, DC, as the Kerr White Scholar at the U.S. Agency for Healthcare Research and Quality. At the University of Washington, he has been the lead faculty for the WWAMI Underserved Pathway, medical director for the Washington State Patient-Centered Medical Home Collaborative, and a researcher in the Rural Health Research Center. He is the medical director for the Washington State employees’ health plan and served as the chair of the American Academy of Family Physicians’ Subcommittee on Genomics.
Siobhan Dolan, M.D., M.P.H., is an associate professor in the Department of Obstetrics and Gynecology and Women’s Health at the Albert Einstein College of Medicine/Montefiore Medical Center in New York City. She currently serves as a medical advisor to March of Dimes and is on the faculty of the human genetics program at Sarah Lawrence College, where she teaches public health genetics and genomics. Dr. Dolan is board certified in both obstetrics and gynecology and clinical genetics. She received a master’s degree in public health from Columbia University. Dr. Dolan maintains her clinical practice in the Bronx, where she provides prenatal care to women using an innovative group model, and she serves as an attending physician in the Division of Reproductive Genetics at Montefiore. Her research interests focus on the integration of genetics into maternal and child health, specifically looking at ways to apply advances in genetics and genomics to prevent birth defects and preterm birth.
Stephen L. Eck, M.D., Ph.D., is vice president and global head of oncology medical science at Astellas Pharma Global Development. He is directly responsible for the oversight of oncology drug development plans. Much of this work is focused on special cancer populations for which unique biology enables the development of personalized cancer therapies. From 2007 to 2011, Dr. Eck served as vice president of translational medicine and pharmacogenomics at Eli Lilly and Company, where he was responsible for the clinical pharmacology components of drug development, including both early-phase clinical studies and late-stage drug development studies. His group also developed the biomarkers and companion diagnostics needed for effective decision making and for tailoring therapeutics to the right patient population. Before joining Eli Lilly, Dr. Eck served in a variety of drug development leadership roles at Pfizer Inc. Dr. Eck is a board-certified hematologist/oncologist with broad drug development experience in oncology and neuroscience. He is a fellow of the American Association for the Advancement of Science (Pharmaceutical Sciences). He serves on the Scientific Advisory Board of the Alliance for Cancer Gene Therapy Foundation and is a member of the executive committee of the Fairbanks Institute, an institution dedicated to developing data banks to enable personalized medicine. He also serves on the advisory board of the Keck Graduate School and is a board member of the Personalized Medicine Coalition.
James P. Evans, Ph.D., M.D., is the Bryson Distinguished Professor of Genetics and Medicine at the University of North Carolina at Chapel Hill. He directs adult and cancer genetics services and serves as editor-in-chief of Genetics in Medicine, the official journal of the American College of Medical Genetics. After obtaining his M.D. and Ph.D. from the University of Kansas, Dr. Evans served as resident and chief resident of internal medicine at the University of North Carolina and then trained in medical genetics at the University of Washington in Seattle. He is board certified in internal medicine, medical genetics, and molecular diagnostics. He remains clinically active in both genetics and general medicine. Dr. Evans’ research interests focus on cancer genetics, pharmacogenomics, the use of next-generation genomic analytic technologies in medicine, and broad issues of how genetic information is used and perceived. He has been extensively involved in policy issues related to genetics and medicine and has published widely on these topics. He was an advisor to the U.S. Secretary of Health and Human Services on the subject of genetics, health, and society from 2004 to 2010 and is actively involved both nationally and internationally in the education of high court judges about genetic and scientific matters. In 2010, Dr. Evans testified before Congress regarding the regulation of direct-to-consumer genetic testing and advised the Government Accountability Office on the same subject. In 2011, he addressed the U.S. Presidential Commission on Bioethics regarding genetic testing.
W. Gregory Feero, M.D., Ph.D., is special advisor to the director for genomic medicine at the National Human Genome Research Institute. Dr. Feero obtained his M.D./Ph.D. from the University of Pittsburgh School of Medicine with a Ph.D. in human genetics. He then completed his residency in family medicine at the Maine-Dartmouth Family Medicine Residency Program in Augusta, Maine, where he still sees patients. He is an associate professor in the Department of Community and Family Medicine at Dartmouth Medical School. Dr. Feero is board certified in family medicine and holds licenses in Maine and West Virginia. He has written numerous peer-reviewed and invited publications.
Michelle Gilats, M.S., is a licensed genetic counselor at the Ann and Robert H. Lurie Children’s Hospital of Chicago. She received her B.S. from the University of Wisconsin, Madison, and her M.S. in genetic counseling from the University of California, Berkeley. She has worked in the areas of pediatric, prenatal, and cancer counseling. At Lurie Children’s Hospital she helps coordinate the pediatric neurofibromatosis clinic. For the Center for Jewish Genetics, Ms. Gilats provides education regarding Jewish genetic disorders and hereditary cancers to community groups and counsels individuals and couples about carrier testing. She also answers inquiries from people across the country and internationally. She helps coordinate the center’s screening programs by interacting with participants prior to registration to ensure that testing is appropriate for that individual or couple. She relays screening results to all participants and provides follow-up testing and counseling as needed.
Scott Grosse, Ph.D., is research economist and associate director for Health Services Research and Evaluation in the Division of Blood Disorders, National Center on Birth Defects and Developmental Disabilities, CDC, in Atlanta, Georgia. He has degrees in economics and public health from the University of Michigan. Dr. Grosse conducts research on the health outcomes and economic benefits of the early identification of hereditary conditions and prevention of preventable conditions that manifest in early childhood. He has written and cowritten more than 150 journal articles and book chapters. In addition to research on specific diseases, he publishes policy analyses and cost-effectiveness analyses of public health strategies, such as newborn screening and genetic testing. Dr. Grosse also publishes on health economic measures and methods. These include summary health measures, methods of assessing the economic value of diagnosis or prevention, the history of the $50,000 per QALY threshold for cost-effectiveness, and human capital measures of productivity losses.
Richard Heimler is a former nonprofit executive who was diagnosed with non-small-cell lung cancer at the age of 44 in 2004. In the past 8 years he has been diagnosed six times with malignant tumors in the lung, brain, and thorax. After Mr. Heimler’s cancer progressed to Stage 4, his tissue was tested and found to be positive for ALK. He subsequently enrolled in a clinical trial of Xalkori, during which his tumors have shrunk, his pulmonary function has increased, and his overall health has improved. Since his initial diagnosis, Mr. Heimler has been an active lung cancer advocate, providing inspiration and advice to newly diagnosed lung cancer patients and raising awareness among the media, politicians, and the general public so that he and fellow lung cancer survivors may look forward to celebrating many more birthdays.
Timothy J. Ley, M.D., received his M.D. from Washington University Medical School in St. Louis in 1978 and performed his internal medicine residency at Massachusetts General Hospital. He completed fellowships in hematology and oncology at the NIH and at Washington University and joined the faculty at Washington University in 1986. He now holds the Lewis T. and Rosalind B. Apple Chair in Oncology, is professor of medicine and of genetics at Washington University, and serves as an associate director of the Genome Institute (for Cancer Genomics). Dr. Ley is a past president of the American Society for Clinical Investigation and is a fellow of the American Association for the Advancement of Science and the American Academy of Arts and Sciences and a member of the Institute of Medicine. He has performed pioneering studies of acute myeloid leukemia genomes and modeled several key AML mutations in the mouse.
Michael F. Murray, M.D., is a former primary care provider and is now the clinical chief of genetics at Brigham and Women’s Hospital in Boston. He trained in internal medicine at the Cleveland Clinic and then went on to do fellowships in infectious diseases and medical genetics. Dr. Murray directs the annual course in The Genetic Basis of Adult Medicine: What the Primary Care Provider Needs to Know, as well as directing a combined residency training program in internal medicine and medical genetics. He leads the Adult Genetics Clinic at Brigham and Women’s Hospital, where more than 400 patients per year are evaluated, diagnosed, and treated. He is one of the principal investigators in an NHGRI project titled “Integration of Whole Genome Sequencing into Clinical Medicine.” His research interests include the integration of electronic family health history tools into medical practice and the use of whole genome testing in medicine.
Robert L. Nussbaum, M.D., is chief of the Division of Medical Genetics in the Department of Medicine and a faculty member in the Institute of Human Genetics at the University of California, San Francisco. He focuses on three main areas of research: (1) an investigation of the genetic contribution to Parkinson’s disease; (2) a long-standing effort to understand the rare X-linked disease known as the oculocerebrorenal syndrome of Lowe, characterized by congenital cataracts, Fanconi syndrome of the renal proximal tubules, neurological dysfunction, and developmental delay; and (3) a translational research effort to assess the value of “personalized medicine,” the application of genetic and genomic approaches to improving patient care. Dr. Nussbaum seeks to evaluate if and how genetic and genomic information about an individual can be used effectively to improve health care by improving outcomes, reducing adverse reactions, lowering costs, and promoting health through risk education. Dr. Nussbaum is seeking to develop collaborative research efforts with clinician-researchers interested in studying how applying genomics can improve patient care.
Kenneth Offit, M.D., is chief of the clinical genetics service at Memorial Sloan-Kettering Cancer Center and a professor of medicine and public health at the Weill College of Medicine at Cornell University. His research group first described and characterized the most common BRCA2 mutation associated with breast and ovarian cancer, was among the first to measure prospectively the impact of preventive ovarian surgery in individuals carrying BRCA mutations, and performed the first genome-wide association study of BRCA2 breast cancer. His lab is currently defining genomic markers of risk for breast, colon, and prostate cancer and lymphoma. Dr. Offit has received a career research recognition award from the American Cancer Society and is a member of the Board of Scientific Counselors of the U.S. National Cancer Institute.
Herbert Pardes, M.D., former president and chief executive officer of New York-Presbyterian Hospital and New York-Presbyterian Healthcare System, is executive vice chairman of the board of New York-Presbyterian Hospital. Nationally recognized for his broad expertise in education, research, clinical care, and health policy, he is an ardent advocate of academic medical centers, humanistic care, and the power of technology and innovation to transform 21st-century medicine. Under his leadership, New York-Presbyterian has become one of the most highly regarded and comprehensive health care institutions in the world. The hospital is top-ranked in the New York metropolitan area and is consistently ranked among the best academic medical institutions in the nation, according to U.S. News & World Report. Before joining the hospital in 1999, Dr. Pardes served as vice president for health sciences at Columbia University and dean of the faculty of medicine at Columbia University College of Physicians and Surgeons. A noted psychiatrist, he served as director of the National Institute of Mental Health and U.S. assistant surgeon general during the Carter and Reagan administrations and was president of the American Psychiatric Association. He received his medical degree from the State University of New York in Brooklyn and completed his residency in psychiatry at Kings County Hospital in Brooklyn, with additional psychoanalytic training at the New York Psychoanalytic Institute.
Scott Ramsey, M.D., Ph.D., is a full member in the Cancer Prevention Program at the Fred Hutchinson Cancer Research Center, where he directs the Research and Economic Assessment in Cancer and Healthcare group, a multidisciplinary team devoted to clinical and economic evaluations of new and existing cancer prevention, screening, and treatment technologies. He is also a professor in the School of Medicine, School of Pharmacy, and Institute for Public Health Genetics at the University of Washington. Trained in medicine and economics, his primary research interest is studying the economic aspects of new medical technologies. Dr. Ramsey is a leader in the field of comparative-effectiveness research. He is past president of the International Society of Pharmacoeconomics and Outcomes Research and has served on the National Cancer Policy Forum of the Institute of Medicine.
Mary Lou Smith, J.D., M.B.A., is a cofounder of the Research Advocacy Network. She is a two-time breast cancer survivor and serves as cochair of the Patient Representative Committee of the Eastern Cooperative Oncology Group and the Patient Advocate Committee of the Radiation Therapy Oncology Group. Ms. Smith also serves on the National Comprehensive Cancer Network Breast Cancer Screening and Treatment Guidelines Committees and the Translational Breast Cancer Research Consortium. In addition, she serves on the advocate core of the Department of Defense Center of Excellence for Individualization of Therapy for Breast Cancer and on the advocate core of the Komen Promise Grant at Indiana University. Ms. Smith was a community member of Chicago’s Rush University Medical Center institutional review board for 10 years. She is past president of the Y-ME National Breast Cancer Organization and has served on the Cancer Leadership Council and the National Breast Cancer Coalition’s board of directors. Ms. Smith was involved in the development of numerous managed care products for the Blue Cross and Blue Shield Association, including a pediatric cancer network. She has a juris doctorate with a health law certification and a master’s degree in business administration.
David L. Veenstra, Pharm.D., Ph.D., is a professor in the Pharmaceutical Outcomes Research and Policy Program in the Department of Pharmacy and a member of the Institute for Public Health Genetics at the University of Washington in Seattle. He graduated from the University of California, San Francisco, with doctoral degrees in clinical pharmacy and computational chemistry. He conducted his postdoctoral training in outcomes research with the University of Washington, including a 1-year externship with Roche Global Pharmacoeconomics. Dr. Veenstra’s primary research interests are the clinical, economic, and policy implications of using genomic information in health care. His other major research interest is the development of simulation models for chronic diseases. Dr. Veenstra’s major research projects include evaluation of warfarin pharmacogenomics and decision modeling in breast and lung cancer to inform research prioritization and stakeholder decision making. His research is funded through grants from the Centers for Disease Control and Prevention, National Cancer Institute, National Human Genome Research Institute, and National Institute for General Medical Sciences. He has worked extensively with the Academy of Managed Care Pharmacy to develop guidelines and train decision makers in the practical application of cost-effectiveness models. Dr. Veenstra is a member of the Evaluation of Genomic Applications in Practice and Prevention working group and an author or coauthor of 100 peer-reviewed publications and 5 book chapters.
John West, M.B.A., M.S., is chief executive officer of Personalis, Inc. He was first involved in DNA sequencing, and DNA sequence interpretation, starting in 1982. In the 1980s he led the development of an automated DNA sequencing system based on pattern recognition from autoradiographs, and he licensed software from the lab of Roger Staden at the Medical Research Council, Cambridge, United Kingdom, for sequence assembly and analysis. In the 1990s Mr. West was general manager and subsequently president of Princeton Instruments, a company focused on low-light scientific imaging used in fluorescent-automated DNA sequencing. In 2001 Mr. West joined Applied Biosystems as vice president of genetic analysis. He was subsequently promoted to vice president, DNA platforms. In 2004 Mr. West became chief executive officer of Solexa Ltd., a venture capital-backed UK company focused primarily on single-molecule DNA sequencing. In 2005 he led Solexa’s reverse merger into U.S.-based Lynx Therapeutics. The company introduced its first system in mid-2006. Mr. West negotiated the January 2007 acquisition of Solexa by Illumina, Inc., and stayed as vice president of the DNA sequencing business there into 2008. From 2009 through mid-2011 Mr. West served as chief executive officer of ViaCyte, Inc., a company leveraging stem cell technology to develop a diabetes cell therapy. In mid-2009 Illumina introduced its individual genome sequencing service, and Mr. West and his family were the first family of four sequenced by the company. Mr. West received his B.S. and M.S. engineering degrees from MIT and earned an M.B.A. from the University of Pennsylvania’s Wharton School.
Thomas J. White, Ph.D., received his B.A. in chemistry from Johns Hopkins University and his Ph.D. in biochemistry from the University of California, Berkeley. His postdoctoral research was carried out at the University of California, San Francisco, Medical Center and at the University of Wisconsin, Madison. From 1978 to 1989 Dr. White held the positions of vice president of research and associate director of research and development at the biotechnology firm Cetus Corporation. He worked on the discovery, research, and development of human proteins as therapeutics, such as Betaseron for the treatment of multiple sclerosis and interleukin-2 for renal cell carcinoma, and on research, forensic, and diagnostic products using polymerase chain reaction (PCR) technology. From 1989 to 2000 he worked for Roche Molecular Systems, a diagnostics division of Hoffmann-La Roche. As senior vice president of research and development, he was responsible for La Roche’s research and development on PCR-based tests on the Cobas instrument systems for diagnosing infectious diseases, genetic diseases, and cancer; for screening the blood supply for human immunodeficiency virus, hepatitis C virus, and hepatitis B virus; and for developing new applications of PCR for basic research, forensics, and the human genome project. From 2001 to 2011 Dr. White was chief scientific officer at Celera Corporation. He retired in June 2011 and is the regents’ lecturer at the University of California, Berkeley, for 2012-2013.
- Speaker Biographical Sketches - The Economics of Genomic MedicineSpeaker Biographical Sketches - The Economics of Genomic Medicine
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