Advisory Committee on Heritable Disorders in Newborns and Children Bethesda Marriott – Pooks Hill 5151 Pooks Hill Road Bethesda, MD 20814 February 26-27, 2009 Presenters Biographies Duane F. Alexander, M.D. Department of Health and Human Services National Institutes of Health National Institute of Child Health and Human Development 31 Center Drive, Room 2A03, MSC 2425 Bethesda, MD 20892-2425 Dr. Alexander is Director of the National Institute of Child Health and Human Development at the National Institutes of Health in Bethesda, Maryland. He earned his B.S. degree at Pennsylvania State University in 1962 and his M.D. at the Johns Hopkins University School of Medicine in 1966, where he also did his residency in pediatrics and a fellowship in developmental disabilities at the John F. Kennedy Institute. He is a diplomat of the American Board of Pediatrics (1973) and a member of the American Academy of Pediatrics, the Society for Developmental Pediatrics, and the American Pediatric Society. As Director of the Institute, he oversees programs relating to the reproductive, developmental, rehabilitative, and behavioral processes that determine the health of children, adults, families, and populations. Edward Bartlett, Ph.D. Division of International Activities Office of Human Research Protection 1101 Wootton Parkway, Suite 200 Rockville, MD 20852 Dr. Bartlett has over 30 years experience in the healthcare field. He received his undergraduate degree in the behavioral sciences from Ohio University, his Master of Public Health degree from the University of Illinois at Chicago, and his doctorate in public health from Johns Hopkins University. He has worked as an Army medical corpsman, researcher, teacher, and consultant. He was the Editor-in-Chief of Patient Education and Counseling journal for 8 years. He has published over 100 scholarly articles on doctor-patient communications, informed consent, confidentiality, and other topics. In 1998 he received the Innovations in Risk Management Award from the American Hospital Association. More recently he worked as an IRB member and administrator at a major teaching hospital in Washington DC. Dr. Bartlett has worked as the International Human Research Liaison at the Office for Human Research Protections since 2003. He is responsible for the development of human research protections in the international setting and for policy development. Page 1 Jeffrey Botkin, M.D., M.P.H. Professor of Pediatrics & Medical Ethics Associate Vice President for Research University of Utah Research Administration Building 75 South 2999 East #108 Salt Lake City, UT 84112-8930 Dr. Botkin is a Professor of Pediatrics at the University of Utah, an Adjunct Professor of Internal Medicine in the Division of Medical Ethics and an Adjunct Professor of Human Genetics. He is the Associate Vice President for Research Integrity at the University of Utah with oversight responsibilities for the IRB, conflict of interest, responsible conduct of research, biosafety, and research ethics education. He was an undergraduate at Princeton University and received his MD at the University of Pittsburgh, an MPH at Johns Hopkins University and was a fellow in Law, Ethics and Health at Johns Hopkins in affiliation with the Kennedy Institute of Ethics at Georgetown. He has over 20 years of experience in the clinical care of pediatric patients. His research and publications are focused on the ethical, legal, and social implications of genetic technology with a particular emphasis on research ethics, genetic testing for cancer susceptibility, newborn screening, and prenatal diagnosis. Dr. Botkin formerly was Chair of the Committee on Bioethics for the American Academy of Pediatrics and is a member of the Secretary’s Advisory Committee on Human Research Protections at DHHS. He is a member of the FDA’s Pediatric Ethics Advisory Committee and the CDC’s Working Group for the Evaluation of Genomic Applications in Practice and Prevention (EGAPP). Dr. Botkin is an elected fellow of the Hastings Center. Bruce Nedrow (Ned) Calonge, M.D., M.P.H. Chief Medical Officer Colorado Department of Public Health and Environment 4300 Cherry Creek Drive South Denver, CO 80246-1530 Dr. Calonge is the Chief Medical Officer of the Colorado Department of Public Health and Environment, and the State Epidemiologist. He is an Associate Professor of Family Medicine and of Preventive Medicine and Biometrics at the University of Colorado Health Sciences Center. Dr. Calonge also serves as the President of the Colorado Board of Medical Examiners, which licenses and regulates physicians in the state. Nationally, he is the Chair of the United States Preventive Services Task Force, a federal panel of experts convened by the AHRQ and charged by Congress to develop national evidence-based recommendations for preventive health care services for clinicians. Dr. Calonge is a member of the CDC’s Task Force on Community Preventive Services, which develops community-level prevention recommendations. He is a member of the CDC’s Evaluating Genomic Applications for Practice and Prevention (EGAPP) Workgroup, which is charged with creating evidence-based recommendations for genetic testing services. He received his BA in Chemistry from The Colorado College, his MD from the University of Colorado and his MPH from the University of Washington; he is board certified in both Family Medicine and Preventive Medicine. Page 2 Anne Marie Comeau, Ph.D. Deputy Director New England Newborn Screening Program University of Massachusetts Medical School 305 South Street Jamaica Plain, MA 02130 Dr. Comeau is Deputy Director of the New England Newborn Screening Program and Associate Professor of Pediatrics at the University of Massachusetts Medical School. The principal focus of Dr. Comeau’s work has been the identification and epidemiology of disease that is detectable in neonates through population-based services and population-based research. She is the Principal Investigator of the recently-awarded CDC grant to study the feasibility of newborn screening for SCID and she continues as the Project Leader for the HRSA-funded Priority Focus on Long-Term Follow up in New England. Technical advances from her laboratory have made sophisticated molecular assays available to patients and providers working in international and domestic centers that would otherwise be unable to access such technology. Her early publications include work on the identification of HIV sequences in infected newborns for early diagnosis, study of mother to infant transmission and evaluation of the efficacy of treatment. More recent publications include evaluations of newborn screening for cystic fibrosis, implications of expanded newborn screening on the healthcare community and recommendations for successful implementation. Dr. Comeau authored Human Subjects Research Protocols that facilitated the 1999 Massachusetts expansion of newborn screening services. She organized condition-specific Workgroups that promote interdisciplinary review and action for newborn screening systems; work from several of these groups will be the topic of her discussion today. Lisa Feuchtbaum, Dr.P.H., M.P.H. Research Scientist IV Genetic Disease Screening Program California Department of Health Services 850 Marina Bay Parkway Room F175, Mail Stop-8200 Richmond, CA 94804 Dr. Feuchtbaum. received advanced degrees from the University of California Berkeley, including Doctorate in Public Health in May 1995 and Masters of Public Health in May 1985. She has been employed at the Genetic Disease Screening Program for the past 17 years. Her overall focus of work has been to organize and oversee complex investigations on the efficacy and effectiveness of the California newborn screening program. More recent focus has been on developing, implementing and evaluating a short-term surveillance project for infants who test positive on the newborn screening panel; and a long-term surveillance project for newborns diagnosed with confirmed disorders. Her most recent publications have focused on: the need for informed consent for pilot newborn screening research; California’s MS/MS program implementation experience; an economic analysis of MS/MS screening in California; results from a national survey focused on barriers and issues associated with newborn screening expansion; and provider educational gaps as it relates to expanded newborn screening; Page 3 Dr. Feutchbaum is currently the Principal Investigator of Centers for Disease Control & Prevention funded project focused on enhancing the quality and completeness of newborn screening short-term and long-term follow-up data; and is participating in a four-state pilot newborn screening disease surveillance system. She has also served as Principal Investigator of Health Resources & Services Administration grant to evaluate the 18-month pilot MS/MS newborn screening program that has since become part of mandatory screening in California. Her participation in national policy development committees include: the National Coordinating Committee Data Collection Work Group on newborn screening long term follow-up; the LongTerm Follow up and Treatment Meeting for the Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children; Chair of national planning group for 3rd MS/MS Program Implementation meeting; workshop on “Challenges for the Future: Newborn Screening State Policies and Procedures”; and workshop on “Interfacing MS/MS Outcome Information Into Newborn Screening Systems. Alan R. Fleischman, M.D. Senior Vice President and Medical Director March of Dimes 1275 Mamaroneck Avenue White Plains, NY 10605 Dr. Fleischman is Senior Vice President and Medical Director of the March of Dimes Foundation. He is also Chair of the Federal Advisory Committee to the National Children’s Study at the National Institute of Child Health and Human Development, NIH, and Clinical Professor of Pediatrics and Clinical Professor of Epidemiology and Population Health at the Albert Einstein College of Medicine in New York. Born in New York City, Dr. Fleischman was graduated Phi Beta Kappa from the City College of New York and Alpha Omega Alpha from the Albert Einstein College of Medicine. He continued his education in Pediatrics at the Johns Hopkins Hospital in Baltimore, Maryland, and completed a Fellowship in Perinatal Physiology at the National Institutes of Health and through a Royal Society of Medicine Foundation Scholarship at Oxford University in England. He joined the faculty at the Albert Einstein College of Medicine and the Montefiore Medical Center in 1975, where he became Professor of Pediatrics and Professor of Epidemiology and Social Medicine and served as Director of the Division of Neonatology until 1994. Dr. Fleischman was a member of the American Academy of Pediatrics Bioethics and AIDS Committees, a member of the National Human Research Protections Advisory Committee for the Office for Human Research Protections of the Department of Health and Human Services, an expert advisor to the Institute of Medicine’s Committee on Ethical Conduct of Clinical Research Involving Children and a member of the National Research Council/Institute of Medicine Committee on Ethical Issues in Housing-Related Health Hazard Research Involving Children Youth, and Families. He was a founding member and is currently still a member of the New York State Governor's Task Force on Life and the Law, and a member of the DHHS Secretary’s Advisory Committee on Human Research Protections’ Subcommittee on Research Involving Children. Page 4 William H. Hannon, Ph.D. Chief, Biochemical Branch Division of Laboratory Sciences National Center for Environmental Health Centers for Disease Control and Prevention 4770 Buford Highway Mailstop F-43 Atlanta, GA 30341-3724 Dr. Hannon is Chief of the Newborn Screening Branch, Division of Laboratory Sciences, Centers for Disease Control and Prevention (CDC). He received his Ph.D. (1972) from the University of Tennessee in Biochemistry and did post-doctoral training (1972-1974) at the Oak Ridge National Laboratories. His areas of expertise are immunochemistry, dried-blood spot technologies, newborn screening for metabolic disorders, and laboratory quality assurance systems. In 1978, he created Newborn Screening Quality Assurance Program at CDC, which now provides services to all U.S. newborn screening laboratories and to over 400 laboratories in 53 countries for more than 35 disorders. This program is co-sponsored by Association of Public Health Laboratories. He has over 250 scientific publications and has served on over 25 national and international committees for a variety of laboratory standardization and quality assurance issues. Dr. Hannon co-authored standards for WHO for designing and implementing congenital hypothyroid and PKU screening in developing and developed countries. He chaired the committee that developed the CLSI approved standard for “Blood spot collection on filter paper for neonatal screening programs.” He has served on organizing committees for numerous national and international newborn screening symposia. He is Vice-president of the International Society for Neonatal Screening (ISNS). He has provided on-site assistance and consultations for the enhancement of newborn screening programs, e.g., Thailand, China, Philippines. Dr. Hannon has received many awards for his contributions to newborn screening, including the Robert Guthrie Award in 2002. Ellen Lipstein, M.D. MassGeneral Hospital for Children Center for Child and Adolescent Health Policy 50 Staniford St, Suite 901 Boston, MA 02114 Ellen A. Lipstein, M.D. is a fellow in the Harvard Pediatric Health Services Fellowship, based at the Center for Adolescent and Child Health Policy at MassGeneral Hospital for Children, and working towards her Master’s in Public Health from the Harvard School of Public Health. Both will be completed in June 2009. Her research is focused on vulnerable children and how parents’ perceptions of their children and their use of health information impact child health. She previously conducted research evaluating the impact of parental chronic disease on children’ health status and school absenteeism among children with asthma. She is currently conducting a qualitative study of parent and primary care provider preferences for newborn screening tests. Dr. Lipstein graduated from Brandeis University and the University of Pittsburgh School of Medicine. She completed a pediatric residency and chief residency at Seattle Children’s Hospital. Page 5 Nicola Longo, M.D., Ph.D. Professor and Chief Medical Genetics/Pediatrics University of Utah 2C412 SOM, 50 N Mario Capecchi Drive Salt Lake City UT 84132 Dr. Longo received his M.D. and Ph.D. in molecular biology and pathology from the University Of Parma School of Medicine in Italy. He trained in Medical and Biochemical Genetics at Emory University in Atlanta, Georgia. Dr. Longo is board certified in medical genetics and clinical biochemical genetics. Currently, Dr. Longo is Professor of Pediatrics and Pathology at the University of Utah, Chief of the Division of Medical Genetics, Director of the Metabolic Service, Director of the Training Program in Clinical Biochemical Genetics and Medical CoDirector of the Biochemical Genetics Laboratory at ARUP laboratories of the University of Utah in Salt Lake City. His research concerns disorders of fatty acid oxidation and the development of new therapies for metabolic disorders. Gerard Vockley, M.D., Ph.D. University of Pittsburgh Professor of Pediatrics, School of Medicine Professor of Human Genetics, Graduate School of Public Health Chief of Medical Genetics Children's Hospital of Pittsburgh of UPMC 3705 Fifth Avenue Pittsburgh, PA 15213 Dr. Vockley is Professor of Pediatrics in the School of Medicine and Professor of Human Genetics in the Graduate School of Public Health at the University of Pittsburgh and Chief of Medical Genetics at the Children’s Hospital of Pittsburgh. Dr. Vockley graduated with University Honors with a B.S. in Biological Sciences from Carnegie-Mellon University, Pittsburgh, PA in 1978. He completed a concurrent M.D., Ph.D. (in genetics) in the Medical Scientist Training Program at the University of Pennsylvania in 1984. Following a residency in pediatrics at the Children’s Hospital of Denver, he spent four years at the Yale School of Medicine first as a Fellow and then an Instructor in Pediatrics and Human Genetics. !n 1991, Dr. Vockley joined the faculty of the Mayo Clinic School of Medicine as an assistant professor of Medical Genetics and rose to Professor and Chair of the Department in his 12 years there. In 2004, Dr. Vockley assumed his current position. Dr. Vockley is an internationally recognized leader in the diagnosis and treatment of inborn errors of metabolism with a special interest in disorders of fatty acid oxidation and branched chain amino acid catabolism. He is also a world leader in research of these disorders and his laboratory has identified six new disorders in the past six years. Dr. Vockley has been elected to the American Society for Clinical Research and the Pediatric Academic Societies. He is a Founding Fellow in the American College of Medical Genetics and recently completed a two year term as President of the Society for Inherited Metabolic Disorders. Dr. Vockley has been active in numerous national and international committees related to genetic disorders and inborn errors of metabolism. Page 6 Michael S. Watson, Ph.D., FACMG Executive Director American College of Medical Genetics 9650 Rockville Pike Bethesda, MD 20814-3998 Dr. Watson received his PhD in Physiology and Biophysics from the University of Alabama at Birmingham while focusing on human medical genetics and received his postdoctoral training at Yale University School of Medicine where he was also the Associate Director of Clinical Cytogenetics. He was director of Clinical and Molecular Cytogenetics at Washington University School of Medicine in St. Louis, and Professor of Pediatrics and Genetics from 1986–2001 and is certified by the American Board of Medical Genetics (ABMG) in Clinical Cytogenetics and as a Ph.D. Medical Geneticist. Dr. Watson served on the Board of Directors of the American College of Medical Genetics (1992–1998) and was Vice President for Laboratory Affairs, chair of the Laboratory Practice committee and co-chair of the Test and Technology Transfer Committee. He has chaired the ACMG Economics Committee and the Intellectual Property subcommittee. He was co-chair of the NIH/DOE Task Force on Genetic Testing from 1995 through 1997. He co-chaired the Rare Diseases Subcommittee of the Secretary’s Advisory Committee on Genetic Testing (SACGT) of DHHS from 2000–2002. As of 2001, he became an Adjunct Professor of Pediatrics at Washington University School of Medicine and Executive Director or the American College of Medical Genetics and the American College of Medical Genetics Foundation Alan E. Zuckerman, M.D. Consultant, AHIC Personalized Healthcare Workgroup Primary Care Informatics Program Director Georgetown University School of Medicine 3800 Reservoir Road, N.W. 2 PHC Building Washington, DC 20007 Dr. Zuckerman is a board certified pediatrician who received his MD from Columbia University College of Physicians and Surgeons in New York City and completed his pediatric residency and a Robert Wood Johnson Clinical Scholar Program at Johns Hopkins Hospital in Baltimore, Maryland. He practices general pediatrics at Georgetown University Hospital in Washington DC and teaches pediatrics, family medicine, and informatics at Georgetown University School of Medicine where he directs a Primary Care Informatics Program. He is a member of the executive committees of the American Academy of Pediatrics (AAP) Council on Clinical Information Technology and the American Medical Informatics Association (AMIA) Primary Care Informatics Working Group. He is involved in providing clinical input to standards development with ASTM (Continuity of Care Record CCR), HL7 (Structured Documentation CCD), and NCPDP (Electronic Prescribing). He has been a member of the Commission for Certification of Healthcare Information Technology (CCHIT) Interoperability Workgroup since its creation and is co-chair of the new Interoperability Workgroup this year. He is also one of the four CCHIT representatives to the joint working group with the Healthcare Information Technology Standards Panel (HITSP). He Page 7 was a member of the Health Information Communication and Data Exchange Taskforce of the State Alliance for e-Health (National Governors Association) that examined the state level role in Health Information Exchange and the Nationwide Health Information Network (NHIN). He is a member of the Clinician Advisory Group for the Dossia personal health record and the steering committee for PDF Healthcare. He is a consultant to the AHIC Personalized Healthcare Workgroup working on newborn screening and family history interoperability. Research interests include Personal Health Records, Health Data Exchange and Interoperability, and Health Data Security particularly Digital Signature and PKI. Page 8