Appendix B

Speaker Biographical Sketches

Jonathan S. Berg, M.D., Ph.D., is an assistant professor in the Department of Genetics at the University of North Carolina at Chapel Hill (UNC). He also has a clinical appointment in the Department of Medicine, Division of Hematology–Oncology and the Lineberger Comprehensive Cancer Center. He graduated from Emory University with a B.S. in biology and completed the M.D./Ph.D. program at UNC in the curriculum in neuroscience. He subsequently underwent residency training in clinical genetics at Baylor College of Medicine. Dr. Berg is now a physician and researcher interested in the development and application of genetic tests in patients and their families. The recent revolution in genetic sequencing technology has led to an unprecedented opportunity to investigate the underlying etiology in families with genetic conditions, and yet it raises potential pitfalls that must be addressed in order to translate these new technologies into the practice of clinical genomics. Dr. Berg is particularly interested in the range of “incidental,” or “secondary,” findings that are discovered during the course of genome-scale sequencing, including the pre-test counseling and informed consent process; computational analysis required to determine the likely clinical relevance of variants; best practices for return of these findings to patients; and the impact of genomic findings on patients and their families. He is co-principal investigator of two National Institutes of Health (NIH) grants, one of them to investigate the use of genome-scale sequencing as a diagnostic test in patients with suspected genetic disorders and as a potential screening tool in healthy newborns and the other to develop a publicly available database of clinically relevant genes and variants through the “ClinGen” project. He is also an investigator in the UNC Center for Genomics and Society, which was recently renewed as a National Human



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Appendix B Speaker Biographical Sketches Jonathan S. Berg, M.D., Ph.D., is an assistant professor in the Depart- ment of Genetics at the University of North Carolina at Chapel Hill (UNC). He also has a clinical appointment in the Department of Medi- cine, Division of Hematology–Oncology and the Lineberger Comprehen- sive Cancer Center. He graduated from Emory University with a B.S. in biology and completed the M.D./Ph.D. program at UNC in the curricu- lum in neuroscience. He subsequently underwent residency training in clinical genetics at Baylor College of Medicine. Dr. Berg is now a physi- cian and researcher interested in the development and application of ge- netic tests in patients and their families. The recent revolution in genetic sequencing technology has led to an unprecedented opportunity to inves- tigate the underlying etiology in families with genetic conditions, and yet it raises potential pitfalls that must be addressed in order to translate these new technologies into the practice of clinical genomics. Dr. Berg is particularly interested in the range of “incidental,” or “secondary,” find- ings that are discovered during the course of genome-scale sequencing, including the pre-test counseling and informed consent process; compu- tational analysis required to determine the likely clinical relevance of variants; best practices for return of these findings to patients; and the impact of genomic findings on patients and their families. He is co- principal investigator of two National Institutes of Health (NIH) grants, one of them to investigate the use of genome-scale sequencing as a diag- nostic test in patients with suspected genetic disorders and as a potential screening tool in healthy newborns and the other to develop a publicly available database of clinically relevant genes and variants through the “ClinGen” project. He is also an investigator in the UNC Center for Ge- nomics and Society, which was recently renewed as a National Human 81

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82 GENOME SEQUENCE INFORMATION IN HEALTH CARE DECISIONS Genome Research Institute (NHGRI) Center for Excellence in Ethical, Legal, and Social Implications Research to evaluate the prospect of using genomics to improve the health of adults in the general public. Dr. Berg has led the development of a novel semi-quantitative metric that evalu- ates several key aspects of “actionability” in order to score gene– phenotype pairs in a transparent, unbiased fashion. This approach was adopted by the Evaluation of Genome Applications in Practice and Pre- vention (EGAPP) Working Group as a means of approaching the prob- lem of systematically evaluating the clinical utility of genomic information, and it is being studied as a way to guide the return of ge- nomic findings in projects at UNC. Bruce D. Blumberg, M.D., is the director of graduate medical education (the resident physician training programs) for Northern California Kaiser Permanente. He currently maintains a clinical practice in medical genet- ics at Kaiser Permanente Oakland. He is a clinical professor of pediatrics at the University of California, San Francisco, and an adjunct clinical professor of pediatrics at Stanford University School of Medicine. His clinical interests within genetics are broad, and he has a subspecialty in- terest in inherited disorders of skeletal and connective tissue develop- ment. His research interest is in the area of the psychosocial and emotional aspects of prenatal diagnosis. Dr. Blumberg, who holds a med- ical degree from the Yale University School of Medicine, completed his residency in pediatrics at Stanford University Hospital and the University of California, Los Angeles (UCLA) Center for the Health Sciences as well as a fellowship in medical genetics at Harbor–UCLA Medical Cen- ter. He received his B.A. from Dartmouth College. Jessica Everett, M.S., is a clinical instructor of internal medicine and a genetic counselor in the Cancer Genetics Clinic at the University of Michigan Comprehensive Cancer Center. She also provides genetic counseling as part of multi-disciplinary teams in endocrine oncology, cutaneous oncology, and pancreatic cancer clinics. She currently works on the Michigan Oncology Sequencing Project, a Clinical Sequencing Exploratory Research project funded by NHGRI and the National Cancer Institute (NCI) which is exploring clinical implementation of whole- genome and whole-exome sequencing for targeted oncology treatment. Ms. Everett’s research interests include clinical applications of genetic and genomic technologies and the evolving role of genetic counselors in providing comprehensive care. She participates in the education of health

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APPENDIX B 83 professional trainees, including genetic counseling graduate students, medical students, and hematology/oncology fellows. Ms. Everett is also active in the National Society of Genetic Counselors, and she has served as co-chair of the Familial Cancer Special Interest Group. Ms. Everett completed her M.S. in medical genetics at the University of Cincinnati in 1999 and her certification with the American Board of Genetic Counsel- ing in 2002. W. Gregory Feero, M.D., Ph.D., obtained his M.D./Ph.D. from the University of Pittsburgh School of Medicine’s medical scientist training program with his Ph.D. in human genetics. He then completed his resi- dency in family medicine at the Maine–Dartmouth Family Medicine Residency Program in Augusta, Maine. After 5 years in practice in Maine, Dr. Feero accepted a position at NHGRI of NIH as senior advisor to the director for genomic medicine under Drs. Francis Collins and Alan Guttmacher. He played a key role in coordinating NHGRI’s activities related to family health history and was the planning chair for the NIH Consensus Development Program’s 2009 State of the Science Confer- ence “Family History and Improving Health.” He also participated in efforts to help ensure the appropriate representation of family health his- tory and genomic data in electronic health records. Additionally, as chief of the Genomic Healthcare Branch in the Office of the Director, he over- saw efforts to advance genomics education for health professional disci- plines, including nurses, physician assistants, physicians, and pharmacists. In 2012, Dr. Feero stepped down from his position at NHGRI and continued on in his role as faculty and research director at the Maine–Dartmouth family medicine residency program. Currently he serves on the Institute of Medicine (IOM) Roundtable on Translating Genomic-Based Research for Health and is a contributing editor for the Journal of the American Medical Association. Dr. Feero sees patients 4 days a week in Fairfield, Maine; is board certified in family medicine; and holds professional licenses in Maine and West Virginia. He has au- thored numerous peer-reviewed and invited publications. Michael J. Gambello, M.D., Ph.D., is the section chief of the Division of Medical Genetics at the Emory School of Medicine. His team diagno- ses and cares for children and adults with birth defects, intellectual disa- bility, lysosomal storage diseases, inborn errors of metabolism, and many other rare disorders. He is board certified by the American Board of Medical Genetics (ABMG) in clinical and medical biochemical genetics.

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84 GENOME SEQUENCE INFORMATION IN HEALTH CARE DECISIONS He is a member of the ABMG board of directors. He teaches genetic medicine and serves as the program director for the Accreditation Coun- cil for Graduate Medical Education–accredited medical genetics residen- cy program. He completed his pediatric residency at St. Louis Children’s Hospital/Washington University and his clinical genetics training in the Metropolitan Washington, DC, Medical Genetics Residency Program. His laboratory studies the neurogenetic disorder tuberous sclerosis com- plex and its association with autism. He also has interest in identifying new Mendelian neurodevelopmental disorders using whole-exome se- quencing. Geoffrey Ginsburg, M.D., Ph.D., is the founding director for genomic medicine at Duke University and assumed his current position in the Duke Institute for Genome Sciences & Policy in 2004. He is also the founding executive director of the Center for Personalized Medicine, which was established in the Duke University Health System in 2010. He is currently professor of medicine and pathology at the Duke University Medical Center. While at Duke, Dr. Ginsburg has pioneered translational genomics, initiating programs in genome-enabled biomarker discovery, longitudinal registries with linked molecular and clinical data, biomarker- informed clinical trials, and the development of novel practice models and implementation research for the integration of genomic tools in health care systems. With a strong commitment to interdisciplinary sci- ence, he has led projects to develop predictive models for common com- plex diseases using high-dimensional genomic data as well as collaborations with engineering groups to develop novel point-of-care sensors. His work spans oncology, infectious diseases, cardiovascular disease, and metabolic disorders, and his research addresses the chal- lenges for translating genomic information into medical practice using new and innovative paradigms and also examines the integration of per- sonalized medicine into health care. He is an internationally recognized expert in genomics and personalized medicine with more than 200 pub- lished papers, and he has received funding from NIH, the Department of Defense, the Defense Advanced Research Projects Agency, the Bill & Melinda Gates Foundation, and industry. In 1990, he joined the faculty of Harvard Medical School, where he was director of preventive cardiol- ogy at Beth Israel Hospital and led a laboratory in applied genetics of cardiovascular disease at Children’s Hospital. In 1997, he joined Millen- nium Pharmaceuticals, Inc., as senior program director for cardiovascular diseases and was eventually appointed vice president of molecular and

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APPENDIX B 85 personalized medicine, with responsibility for developing pharmacogenomic strategies for therapeutics as well as biomarkers for disease and their im- plementation in the drug development process. He has received a number of awards for his research accomplishments, including the Innovator in Medicine Award from Millennium in 2004 and the Basic Research Achievement Award in Cardiovascular Medicine from Duke in 2005. He is a founding member and former board member of the Personalized Medicine Coalition, a senior consulting editor for the Journal of the American College of Cardiology, an editor for The HUGO Journal, and an editorial advisor for Science Translational Medicine. In addition, he is the editor of Genomic and Personalized Medicine (Elsevier), whose first edition was published in 2009. He has been a member of the Secretary of Veterans Affairs Advisory Council on Genomic Medicine and the Na- tional Advisory Council for Human Genome Research at NIH. He is cur- rently an international expert panel member for Genome Canada; a member of the board of external experts for the National Heart, Lung, and Blood Institute; co-chair of the IOM Roundtable on Translating Ge- nomic-Based Research for Health; and a member of the external scien- tific panel for the Pharmacogenomics Research Network. He has recently been appointed to the advisory council for the newly established National Center for Advancing Translational Sciences at NIH. He has recently been nominated to serve on the World Economic Forum’s Global Agen- da Council on Personalized and Precision Medicine. He received his M.D. and Ph.D. in biophysics from Boston University and completed an internal medicine residency at Beth Israel Hospital in Boston, Massachu- setts. Subsequently he pursued postdoctoral training in clinical cardio- vascular medicine at Beth Israel Hospital and in molecular biology at Children’s Hospital as a Bugher Foundation Fellow of the American Heart Association. Katrina Goddard, Ph.D., is a senior investigator at the Kaiser Permanente Northwest Center for Health Research in Portland, Oregon. She focuses on public health genomics and the translation of genetic testing into practice. She co-directs a study that is part of the Clinical Sequencing Exploratory Research consortium to explore how to use a new technology—whole- genome sequencing—in everyday clinical practice. The study will test would-be parents before they conceive for genetic mutations that could cause rare but serious diseases in their children and will explore how to implement such testing in a health plan. Dr. Goddard also co-directs the Knowledge Synthesis Center for the EGAPP program, which supports

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86 GENOME SEQUENCE INFORMATION IN HEALTH CARE DECISIONS evidence-based recommendations on genomic applications. She is a co- investigator for the Clinical Genome Resource program funded by NHGRI. That program is designing and implementing a framework to evaluate which genes play a role in disease and are relevant to patient care. Dr. Goddard is director of the NW Biobank, a repository of blood and tissue samples linked to the comprehensive electronic medical records of Kaiser Permanente’s members. The NW Biobank enables researchers to connect people’s genetic information with their health care, including vital signs, diagnoses, and treatments. In 2007, Dr. Goddard completed a 1-year fellowship in the National Office of Public Health Genomics, which was jointly sponsored by the Centers for Disease Control and the American Society of Human Genetics. Prior to her appointment as a sen- ior investigator at the Kaiser Permanente Center for Health Research, Dr. Goddard was on the faculty at Case Western Reserve University in the Division of Genetic and Molecular Epidemiology. She received her Ph.D. in biostatistics from the University of Washington in 1999 and a B.S. in molecular biology from the University of Wisconsin–Madison. Robert C. Green, M.D., M.P.H., is a medical geneticist and physician– scientist who directs the Genomes to People (G2P) Research Program (genomes2people.org) in translational genomics and health outcomes in the Division of Genetics at Brigham and Women’s Hospital and Harvard Medical School. Dr. Green is the principal investigator of the Risk Eval- uation and Education for Alzheimer’s Disease (REVEAL) Study, funded by NIH, in which a cross-disciplinary team has conducted four separate multi-center randomized clinical trials, collectively enrolling 1,100 indi- viduals to disclose a genetic risk factor for Alzheimer’s disease in order to explore emerging themes in translational genomics. Dr. Green also co- directs the NIH-funded PGen Study, the first prospective study of direct- to-consumer genetic testing services. He is the principal investigator of the MedSeq Project, the first NIH-funded research study to explore the use of whole-genome sequencing in the clinical practice of medicine, and he co-directs the BabySeq Project, the first NIH-funded trial of sequenc- ing in newborns. The MedSeq and BabySeq projects are conducing pilot trials in utilizing whole-genome sequencing, both in patients who are affected with hereditary disease and in those who are healthy, and study- ing downstream impact on health, behavior, and economics. Dr. Green is currently the associate director for research at the Partners Center for Personalized Genetic Medicine, a board member of the Council for Re- sponsible Genetics and a member of the informed cohort oversight

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APPENDIX B 87 boards for both the Children’s Hospital Boston Gene Partnership Pro- gram and the Coriell Personalized Medicine Collaborative. He was lead author of the recently published recommendations from the American College of Medical Genetics and Genomics for the management of inci- dental findings in clinical sequencing. Madhuri Hegde, Ph.D., FACMG, is a professor of human genetics and the executive director of the Emory Genetics Laboratory at Emory Uni- versity. Her areas of specialty and interest are muscular dystrophy and novel and high-throughput methodologies to detect and interpret se- quence variation. The focus of her laboratory is to develop and perform comprehensive mutation analysis and interpretation for complex or chal- lenging genetic disorders using multiple approaches. The primary focus of her clinical work is the development of high-throughput next- generation sequencing strategies for rare disorders using sequence cap- ture technologies, robotics, clinical exome and genome sequencing, oli- gonucleotide array platforms, and robotics. Her research is focused on gene discovery and the functional analysis of sequence variants in dis- ease-associated genes, specifically muscular dystrophies and translating what is learned in the basic research laboratory to clinical practice. She received a B.Sc. and a M.Sc. from the University of Bombay, India, and a Ph.D. from the University of Auckland, New Zealand. She did postdoc- toral studies at Baylor College of Medicine and is board certified in clin- ical molecular genetics. Kathleen T. Hickey, Ed.D., FNP-BC, ANP-BC, R.N., CCRN, APNG, FAHA, FAAN, is an assistant professor of nursing and a family/adult nurse practitioner in the Division of Cardiology at Columbia University. She is also a Robert Wood Johnson Foundation Nurse Faculty Alumni, focusing her research on the interrelated areas of arrhythmias, cardioge- netics, and the prevention of sudden cardiac death. Dr. Hickey has re- ceived funding from NIH, the Robert Wood Johnson Foundation, and Columbia University to support her research endeavors. For more than 20 years she has collaborated with interdisciplinary teams in her role as a nurse practitioner on several landmark multi-center NIH clinical trials that contributed significant advances in knowledge to the fields of ar- rhythmia, heart failure, and overall cardiovascular research. She consist- ently advocates for nursing’s critical role in the rapidly evolving field of genomics while raising public awareness of potentially life-threatening cardiac conditions. Dr. Hickey is part of a small cadre of cardiogenetic

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88 GENOME SEQUENCE INFORMATION IN HEALTH CARE DECISIONS nurse practitioners in the United States who focus on improving the lives of families with inherited cardiac conditions. She is actively involved in the American Heart Association Council on Cardiovascular Nursing and Functional Genomics and the International Society of Nursing Genetics (ISONG). She is the past president of ISONG, and her efforts are recog- nized on both a national and international level. Dr. Hickey received her doctorate from Columbia University, and her postdoctoral education in- cludes participation in the National Institute of Nursing Research Sum- mer Genetics Institute and NHGRI. She is recognized as a nurse leader who shapes and improves the lives of cardiovascular patients and their families. Amy Hower, Ph.D., is a neuroscientist focused largely in the fields of neural development and regeneration. Her thesis work was concentrated in the areas of axon growth and guidance, receptor biology, enzyme bi- ology, cell signaling, and oncogenesis. She has technical expertise in many aspects of molecular biology, protein biochemistry, imaging, cell culture, and behavior. Dr. Hower received her Ph.D. in neuroscience from the University of Miami School of Medicine and her bachelors de- grees from the UNC at Chapel Hill. She has also carried out research projects at Harvard University, the University of Hawaii, Duke Universi- ty, and field stations, including Mount Desert Island Biological Labora- tory in Maine and Tiputini Research Station in Ecuador. Dr. Hower has authored multiple peer-reviewed papers and received various competitive awards and recognitions. Louis B. Jacques, M.D., joined the Centers for Medicare & Medicaid Services (CMS) in 2003 and has been director of the Coverage and Analysis Group (CAG) since October 2009. The group reviews evidence and develops Medicare national coverage policy. From 2004 through 2009 he was director of the Division of Items and Devices within CAG. Prior to his arrival at CMS, Dr. Jacques was the associate dean for cur- riculum at Georgetown University School of Medicine, where he retains a faculty appointment. He served on a number of university committees including the executive faculty, committee on admissions, and the insti- tutional review board. He previously worked in the palliative care pro- gram at Georgetown’s Lombardi Cancer Center where he covered the gynecologic oncology service and he made home visits as a volunteer physician for a rural hospice on the Maryland Eastern Shore.

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APPENDIX B 89 Muin J. Khoury, M.D., Ph.D., is the first and current director of the Office of Public Health Genomics at the Centers for Disease Control and Prevention (CDC). The office was formed in 1997 to evaluate how ad- vances in human genomics can be used responsibly and effectively to improve health and prevent disease across the lifespan. CDC’s Office of Public Health Genomics serves as the national focus for integrating ge- nomics into public health research and programs for disease prevention and health promotion. Dr. Khoury joined CDC as an epidemic intelli- gence service officer in 1980 in the Birth Defects and Genetic Diseases Branch and served as a medical epidemiologist in that branch begin- ning in 1987. In 1990 he became deputy chief of the same branch. In ad- dition to his CDC role, since 2007 Dr. Khoury has served as a senior consultant in public health genomics at the NCI. Since 2011 he has also served as the acting associate director for the Epidemiology and Ge- nomics Research Program in the Division of Cancer Control and Popula- tion Sciences at NCI. Dr. Khoury received his B.S. in biology and chemistry from the American University of Beirut, Lebanon, and re- ceived his medical degree and pediatrics training from the same institu- tion. He received a Ph.D. in human genetics and genetic epidemiology and training in medical genetics from Johns Hopkins University. Dr. Khoury is board certified in medical genetics. Dr. Khoury has published extensively in the fields of genetic epidemiology and public health genet- ics, is a member of many professional societies, and serves on the edito- rial boards of several journals. He is an adjunct professor of epidemiology at the Emory University School of Public Health and an associate in the Department of Epidemiology at the Johns Hopkins Bloomberg School of Public Health. Shashikant Kulkarni, Ph.D., is the director of cytogenomics and mo- lecular pathology at Washington University School of Medicine in St. Louis. He is an associate professor in the departments of pathology and immunology, pediatrics, and genetics. He trained at Harvard Medical School, Imperial College in London, and at the All India Institute of Medical Sciences. He is a board-certified medical geneticist by the American Board of Medical Genetics. In his role at Washington University, Dr. Kulkarni oversees one of the most modern Clinical Laboratory Im- provement Amendments–certified and College of American Pathologist– accredited state-of-the-art, full-service academic cytogenomics and molecular pathology laboratories in the country, which is currently staffed by more than 150 board-certified pathologists, clinical ge-

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90 GENOME SEQUENCE INFORMATION IN HEALTH CARE DECISIONS nomocists, clinical bioinformaticists, and certified genetic technologists. Test areas include prenatal diagnostics, perinatal and childhood studies in the evaluation of congenital and developmental disorders, infertility and pregnancy loss studies, and cancer. Dr. Kulkarni is actively involved in defining standards for next-generation sequencing in clinical diagnostics through his collaboration with CDC through the Clinical Next- Generation-Sequencing Quality Standards National Working Group, and he is a co-chairman of the Clinical Laboratory Standards Institute for microarray-based clinical diagnostics. He also serves on the scientific advisory board of the National Institute of General Medical Science. Dr. Kulkarni is considered an expert and key opinion leader in the field of clinical genomics and next-generation sequencing technology, and he has given numerous invited presentations both nationally and internationally. He is on the editorial board of several peer-reviewed journals. Dr. Kul- karni is the program director of the clinical genomics training program at the Washington University School of Medicine and trains residents and fellows in clinical genomics. He conducts basic research in the genomics of multiple myeloma and acute myeloid leukemia and has published ex- tensively in such peer-reviewed journals as Cell, Nature, Nature Bio- technology, Journal of American Medical Association, and New England Journal of Medicine. Debra G. B. Leonard, M.D., Ph.D., is professor and chair of the De- partment of Pathology, University of Vermont College of Medicine, and physician leader of pathology and laboratory medicine at Fletcher Allen Health Care in Burlington, Vermont. She is an expert in the molecular pathology of genetic and infectious diseases and cancer and in policy development for genomic medicine. Her M.D. and Ph.D. degrees were completed at the New York University School of Medicine, where she also did her postgraduate clinical training in anatomic pathology, includ- ing a surgical pathology fellowship. She is certified by the American Board of Pathology in anatomic pathology and by the American Boards of Pathology and Medical Genetics in molecular genetic pathology. Cur- rently Dr. Leonard is a member of the IOM Roundtable on Translating Genomic-Based Research for Health, and she previously served as a member of the IOM Committee on the Review of Genomics-Based Tests for Predicting Outcomes in Clinical Trials. She is a fellow of the College of American Pathologists (CAP) and chair of CAP’s personalized health care committee. Dr. Leonard is a past member of the Secretary’s Adviso- ry Committee on Genetics Health and Society to Secretary Michael O.

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APPENDIX B 91 Leavitt and a past president and 2009 Leadership Award recipient of the Association for Molecular Pathology. She has spoken widely on various molecular pathology test services, the future of molecular pathology, the impact of gene patents on molecular pathology, and the practice of ge- nomic medicine. Gary Lyman, M.D., M.P.H., is a practicing medical oncologist and is nationally and internationally recognized for his leadership in compara- tive effectiveness, health services, and outcomes research. He is a full member in the Cancer Prevention Program, Public Health Sciences Divi- sion at the Fred Hutchinson Cancer Research Center, where he co-directs the Hutchinson Institute for Cancer Outcomes Research, a multidiscipli- nary team devoted to clinical and economic evaluations of new and exist- ing cancer prevention, screening, and treatment technologies. In addition, Dr. Lyman is a professor in the School of Public Health and School of Pharmacy at the University of Washington. The overarching goal of Dr. Lyman’s research is the reliable and valid demonstration of the efficacy, effectiveness, and safety of clinical interventions in real-world cancer patients, ranging from prevention and screening to treatment to survivor- ship and cancer surveillance. He has published some 400 research arti- cles in the professional medical literature. Dr. Lyman’s research has played a key role in establishing clinical practice guidelines for cancer management through the American Society of Clinical Oncology (ASCO), and he is co-leading the development of comprehensive ASCO breast cancer and survivorship guidelines. He has served on numerous ASCO committees, including the ASCO Value in Cancer Care Task Force, which is leading efforts to integrate economics into evidence- based medicine, policy, and research. Dr. Lyman currently serves on the ASCO board of directors and is also active with the American Society of Hematology and several other professional clinical and cancer research organizations. Robert S. McDonough, M.D., J.D., is senior director of clinical policy research and development for Aetna, where he is responsible for devel- oping Aetna’s clinical policies. He is co-chairman of Aetna’s Pharmacy and Therapeutics Committee and Aetna’s Policy and Plan Design Com- mittee. He is a member of the advisory board for the Institute for Clinical and Economic Review. He has special interests in preventive health services, technology assessment, and outcomes research. He is former senior ana- lyst and project director with the health program of the Congressional

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92 GENOME SEQUENCE INFORMATION IN HEALTH CARE DECISIONS Office of Technology Assessment. He is a graduate of the Duke Univer- sity School of Medicine and School of Law (J.D.), and he has a master’s degree in policy analysis from Duke’s Sanford Institute of Public Policy. He completed an internship in internal medicine at the Stanford Universi- ty School of Medicine and is a fellow of the American College of Legal Medicine. Heidi L. Rehm, Ph.D., FACMG, is the director of the Laboratory for Molecular Medicine at the Partners Healthcare Center for Personalized Genetic Medicine and an assistant professor of pathology at Harvard Medical School. Her lab focuses on the translation of new genetic dis- coveries and technologies into clinical tests that can be used to improve patient outcomes, supporting the model of personalized medicine. Dr. Rehm also conducts research in hearing loss, Usher syndrome, genomic medicine, and health care information technology. Mark Robson, M.D., is an attending physician of the Clinical Genetics and Breast Cancer Medicine Services in the Department of Medicine at Memorial Sloan–Kettering Cancer Center. He received his B.Sc. from Washington and Lee University and his M.D. from the University of Virginia. He performed residency and fellowship training at Walter Reed Army Medical center before coming to Memorial Sloan–Kettering in 1996. He is currently the clinic director of the Clinical Genetics Service and the immediate past chair of the Cancer Genetics Subcommittee of the Cancer Prevention Committee of the American Society of Clinical Oncology. Dr. Robson’s research is primarily directed toward improving the integration of genetic information into the clinical management of women with breast cancer. He and his colleagues have conducted a num- ber of studies examining outcomes in women with hereditary breast can- cer in order to better define the risks and benefits of treatments such as breast-conserving therapy and adjuvant chemotherapy in this group. He and his co-workers have also conducted a number of studies examining the effectiveness of screening interventions such as breast magnetic res- onance imaging or ovarian cancer screening in women at hereditary risk. He is currently conducting studies to evaluate the impact of intensive screening or surgical prevention upon women’s quality of life and to de- velop new screening tools, such as serum peptide profiling. He is also investigating the optimal integration of new genetic technologies, such as genomic profiling, into the care of women at risk for breast cancer.

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APPENDIX B 93 Howard M. Saal, M.D., is a professor of pediatrics at the University of Cincinnati College of Medicine. He is the director of the Section of Clin- ical Genetics in the Division of Human Genetics at Cincinnati Children’s Hospital Medical Center and medical director of the Cytogenetics Labor- atory. Dr. Saal is board certified in clinical genetics, clinical cytogenet- ics, and pediatrics. Prior to moving to Cincinnati, Dr. Saal was the director of the Cytogenetics Laboratory at the University of Connecticut Health Center and subsequently vice-chairman of the Department of Medical Genetics at Children’s National Medical Center in Washington, DC, where he was also the director of the Craniofacial Center. Dr. Saal is interested in the genetic etiologies and natural histories of craniofacial disorders, especially cleft lip and cleft palate. He is also has an interest in the ethical aspects of genetics, genomics, and genetic testing. Dr. Saal has authored or co-authored more than 100 publications primarily cen- tered on the etiology, natural history, and management of various genetic conditions, with special attention to neurofibromatosis, cleft lip, cleft palate, and Pierre Robin sequence. His career has also included involve- ment in community activities, having been named to the health profes- sionals advisory committee and later to the board of directors of the National Capital Area March of Dimes, and he serves on the medical advisory council for the Ohio Bureau for Children with Medical Handi- caps and Developmental Disorders. His national committee activities include having been chair of the American Academy of Pediatrics (AAP) Section on Genetics and Birth Defects, chair of the AAP Committee on Genetics, and president of the American Cleft Palate–Craniofacial Asso- ciation. Dr. Saal has been at Cincinnati Children’s Hospital Medical Cen- ter for 20 years, and his accomplishments have included establishing urban genetics outreach clinics in Hamilton County, developing the Cin- cinnati Children’s Hereditary Cancer Program, and acting as director of the Craniofacial Center at Cincinnati Children’s, where he continues to cultivate his interests in the care of children and families with genetic conditions and craniofacial disorders. Sharon Terry, M.A., is president and chief executive officer of the Ge- netic Alliance, a network of more than 10,000 organizations, 1,200 of which are disease advocacy organizations. Genetic Alliance improves health through the authentic engagement of communities and individuals. It develops innovative solutions through novel partnerships, connecting consumers to smart services. Ms. Terry is the founding chief executive officer of PXE International, a research advocacy organization for the

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94 GENOME SEQUENCE INFORMATION IN HEALTH CARE DECISIONS genetic condition pseudoxanthoma elasticum (PXE). As co-discoverer of the gene associated with PXE, ABCC6, she holds the patent for that gene and has assigned her rights to the foundation. She developed a diagnostic test for PXE and is conducting clinical trials. Ms. Terry is also a co- founder of the Genetic Alliance Registry and Biobank. She is the author of more than 90 peer-reviewed articles. In her position at the forefront of consumer participation in genetics research, services, and policy, she serves in a leadership role on many of the major international and nation- al organizations, including the IOM Health Sciences Policy Board, the National Coalition for Health Professional Education in Genetics board, and the International Rare Disease Research Consortium Interim Execu- tive Committee, and is a member of the IOM Roundtable on Translating Genomic-Based Research for Health. She is on the editorial boards of several journals. She was instrumental in the passage of the Genetic In- formation Nondiscrimination Act. She received an honorary doctorate from Iona College in 2005 for her work in community engagement, the first Patient Service Award from the University of North Carolina Insti- tute for Pharmacogenomics and Individualized Therapy in 2007, the Research!America Distinguished Organization Advocacy Award in 2009, and the Clinical Research Forum and Foundation’s Annual Award for Leadership in Public Advocacy in 2011. She is an Ashoka Fellow. 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 Universi- ty of Washington, Seattle. He graduated from the University of Califor- nia, San Francisco, with doctoral degrees in clinical pharmacy and computational chemistry. He carried out his postdoctoral training in out- comes research with the University of Washington, including a 1-year externship with Roche Global Pharmacoeconomics. Dr. Veenstra’s pri- mary research interests are the clinical, economic, and policy implica- tions of using genomic information in health care. His major research projects include evaluation of warfarin pharmacogenomics and decision modeling in breast and lung cancer to inform research prioritization and stakeholder decision making. Dr. Veenstra’s research is funded through grants from the CDC, NCI, NHGRI, and the National Institute for Gen- eral Medical Sciences. Dr. Veenstra is a member of EGAPP, a CDC- sponsored, evidence-based recommendation group for genetic tests. Dr. Veenstra’s other major research interest is the development of disease- simulation models for chronic diseases. He has worked extensively with

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APPENDIX B 95 the Academy of Managed Care Pharmacy to develop guidelines and train decision makers in the practical application of cost-effectiveness models. Dr. Veenstra is an author or co-author of 100 peer-reviewed publications and 5 book chapters.

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