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.
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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.
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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;
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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.
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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.
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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.
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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
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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.
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