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“The findings and conclusions in this book are those of the author(s) and do not
necessarily represent the views of the funding agency.”

 

These chapters were published with modifications by Oxford University Press (2000)

 

Genetics and Public Health in the 21st Century

 


Using Genetic Information to Improve Health and Prevent Disease



Genetics and Public Health in the 21st Century

Edited by

Muin J. Khoury, M.D., Ph.D.
Director, Office of Genomics and Disease Prevention
Centers for Disease Control and Prevention
Atlanta, Georgia

Wylie Burke, M.D., Ph.D.
Associate Professor of Medicine
Department of Medicine
University of Washington
Seattle, Washington

Elizabeth J. Thomson, M.S., R.N., C.G.C.
Director, Ethical, Legal and Social Implications Research Program
National Human Genome Research Institute
National Institutes of Health
Bethesda, Maryland

 




 

Preface

During the next few years, all of the estimated 50,000-100,000 human genes will be identified as a result of the Human Genome Project. As genome technology moves from the laboratory to the healthcare setting, a complex array of challenges will face medical and public health professionals in the appropriate use of genetic information to improve health and prevent disease in individuals, families, and communities. Human genetic variation is associated with many, if not all, human diseases and disabilities, including the common chronic diseases of major public health impact. Genetic variation interacts with environmental factors and sociocultural influences to modify the risk of various disease.

Because the broad mission of public health is to fulfill society's interest in assuring conditions in which people can be healthy, there will be unavoidable integration of new genetic technologies and information into public health programs to target intervention strategies that will prevent morbidity, mortality, and disability from a wide array of conditions. Public health professionals will increasingly use genetic technologies and information in research, policy, and program development. This is not different from the expected integration of genetics into health care in general across the various subspecialties.

In anticipation of the expected growth at the interface of genetics and public health, we have attempted in this book to delineate a framework for the integration of advances in human genetics into public health practice. The book is intended to be a resource to public health students, researchers, and practitioners. Our contributors come from a wide range of disciplines including epidemiology, biostatistics, clinical medicine, health policy and management, health services research, behavioral and social sciences, ethics, law, health economics, and laboratory sciences. Researchers, students, and practitioners in various medical and nursing fields should also benefit from having their perspectives on the emerging and often complex issues of genetic testing as a public health issue.

The book is divided into six parts. Part I presents overarching principles of human genetics in public health. It includes a framework for integrating genetics into public health practice (Chapter 1), historical perspectives (Chapter 2), an update on the impact of the Human Genome Project (Chapter 3), an overview of models of public health policy decisions in genetics (Chapter 4), and a discussion of the multidisciplinary nature of research and training in genetics and public health (Chapter 5).

Part II covers issues related to public health assessment in genetics. It provides an overview of the interface between epidemiology and molecular biology (Chapter 6) and discusses issues of surveillance in birth defects and genetic disorders (Chapter 7), with a focus on hematologic diseases (Chapter 8). This section further deals with public health assessment in the genetics of cancer (Chapter 9), infectious diseases (Chapter 10), and occupational health (Chapter 11).

Part III presents selected examples of public health evaluation of genetic testing. It discusses various strategies to ensure the quality, safety, and effectiveness of genetic testing (Chapter 12) and gives a specific example of newborn quality assurance screening (Chapter 13).

Part IV identifies approaches and gives examples for developing, implementing, and evaluating population interventions that use genetic information to improve health. It contains chapters on population needs assessment and delivery of genetic services (Chapters 14 through 17), the application of prevention effectiveness principles to genetics programs (Chapter 18), and the impact of genetic counseling on public health (Chapter 19). Additional chapters in this section illustrate the process of policy and program development and evaluation in relation to specific disease conditions, such as phenylketonuria (Chapter 20), cystic fibrosis (Chapter 21), sickle cell disease (Chapter 22), hemochromatosis (Chapter 23), and coronary heart disease (Chapter 24).

Part V addresses some but not all of the emerging ethical, legal, and social issues related to the integration of genetics into public health practice. It covers the interface among public health, genetics, and the law (Chapter 25), the informed consent process in traditional public health genetics programs (Chapter 26), and issues surrounding public health surveillance and information systems (Chapter 27).

Finally, Part VI deals with communication, education, and the dissemination of genetic information in public health practice. It presents overall principles of communication science related to genetics and public health (Chapter 28), an overview of efforts to train public health professionals in genetics (Chapter 29), consumer perspectives on genetic testing (Chapter 30), and an account of the use of the Internet as an emerging medium for information dissemination in genetics and public health (Chapter 31).

Although the interface of genetics and public health will continue to evolve over the next few years, we hope this volume will provide a solid foundation for increasing the level of awareness of the emerging role of genetics in public health practice in the 21st century.

Atlanta, Ga. M.J.K.

Seattle, Wash. W.B.

Bethesda, Md. E.T.

September 1999

 

Contributors

Michael Aidoo, Ph.D.
Molecular Vaccine Section, Immunology Branch
Division of Parasitic Diseases
National Center for Infectious Diseases
Centers for Disease Control and Prevention
Atlanta, Georgia

Melissa A. Austin, Ph.D.
Department of Epidemiology
Public Health Genetics Program
Public Health and Community Medicine
University of Washington
Seattle, Washington

Diane L. Baker, M.S., C.G.C.
Department of Human Genetics
University of Michigan Medical School
Ann Arbor, Michigan

Carol J. Bell , B.S., MT (ASCP)
Newborn Screening Quality Assurance Program
Division of Laboratory Sciences
National Center for Environmental Health
Centers for Disease Control and Prevention
Atlanta, Georgia

Judith L. Benkendorf, M.S., C.G.C.
Division of Genetics
Department of Obstetrics and Gynecology
Georgetown University Medical Center
Washington, DC

Lorenzo D. Botto, M.D.
Birth Defects and Genetic Diseases Branch
National Center for Environmental Health
Centers for Disease Control and Prevention
Atlanta, Georgia

Wylie Burke, M.D., Ph.D.
Department of Medicine
University of Washington
Seattle, Washington

Scott Burris, J.D.
James E. Beasley School of Law
Temple University
Philadelphia, Pennsylvania

Susan M. Caumartin, Ph.D.
Department of Epidemiology
School of Public Health
University of Michigan
Ann Arbor, Michigan

Ellen Wright Clayton, M.D., J.D.
Department of Pediatrics
Vanderbilt University
Nashville, Tennessee

Mary Cogswell, Dr. P.H.
Division of Nutrition and Physical Activity
National Center for Chronic Disease Prevention and Health Promotion
Centers for Disease Control and Prevention
Atlanta, Georgia

Debra L. Collins, M.S.
University of Kansas Medical Center
Kansas City, Kansas

Francis S. Collins, M.D., Ph.D.
National Human Genome Research Institute
National Institutes of Health
Bethesda, Maryland

Celeste M. Condit, Ph.D.
Department of Speech Communication
University of Georgia
Athens, Georgia

Steven S. Coughlin, Ph.D.
Division of Cancer Prevention and Control
Centers for Disease Control and Prevention
Atlanta, Georgia

Karey David, B.A.
Alliance of Genetic Support Groups
Washington, DC

Mary E. Davidson, M.S.W.
Alliance of Genetic Support Groups
Washington, DC

D. Gayle DeBord, Ph.D.
Molecular and Genetic Monitoring Section
Biomonitoring and Health Assessment Branch
Division of Applied Research and Technology
National Institute for Occupational Safety and Health
Centers for Disease Control and Prevention
Cincinnati, Ohio

Janice S. Dorman, Ph.D.
Department of Epidemiology
Graduate School of Public Health
University of Pittsburgh
Pittsburgh, Pennsylvania

Marie V. Downer, M.D., M.P.H.
Immunogenetics Section
Immunology Branch
Division of AIDS, STD and TB Laboratory Research
National Center for Infectious Diseases
Centers for Disease Control and Prevention
Atlanta, Georgia

Debra Lochner Doyle, M.S., C.G.C.
Genetic Services Section
Washington State Department of Health
Seattle, Washington

Bruce L. Evatt, M.D.
Hematologic Diseases Branch
Division of AIDS, STD and TB Laboratory Research
National Center for Infectious Diseases
Centers for Disease Control and Prevention
Atlanta, Georgia

Philip M. Farrell, M.D., Ph.D.
University of Wisconsin Medical School
Madison, Wisconsin

Robert M. Fineman, M.D., Ph.D.
Office of Maternal and Child Health
Washington State Department of Health
Seattle, Washington

Leslie Fink , B.S.
Office of Communications and Public Liaison
National Institute of Allergy and Infectious Diseases
National Institutes of Health
Bethesda, Maryland

Adele Franks, M.D.
Prudential Center for Healthcare Research
Atlanta, Georgia

Lawrence O. Gostin, J.D., L.L.D.
Georgetown/Johns Hopkins University
Washington, DC

Scott D. Grosse, Ph.D.
Office of Program Evaluation and Legislation
National Center for Environmental Health
Centers for Disease Control and Prevention
Atlanta, Georgia

W. Harry Hannon, Ph.D.
Newborn Screening Quality Assurance Program
Division of Laboratory Sciences
National Center for Environmental Health
Centers for Disease Control and Prevention
Atlanta, Georgia

L. Omar Henderson, Ph.D.
Newborn Screening Quality Assurance Program
Division of Laboratory Sciences
National Center for Environmental Health
Centers for Disease Control and Prevention
Atlanta, Georgia

Thomas Hodge, Ph.D.
Immunogenetics Section
Immunology Branch
Division of AIDS, STD and TB Laboratory Research
National Center for Infectious Diseases
Centers for Disease Control and Prevention
Atlanta, Georgia

Gary Hoffman
Newborn Screening
State Laboratory of Hygiene
Madison, Wisconsin

Paul N. Hopkins, M.D., M.S.P.H.
Cardiovascular Genetics Research Clinic
University of Utah School of Medicine
Salt Lake City, Utah

Nancy Hsu, B.A.
University of Wisconsin Medical School
Madison, Wisconsin

Steven C. Hunt, Ph.D.
Cardiovascular Genetics Research Clinic
University of Utah School of Medicine
Salt Lake City, Utah

Muin J. Khoury, M.D., Ph.D.
Office of Genomics and Disease Prevention
Centers for Disease Control and Prevention
Atlanta, Georgia

Michael R. Kosorok, Ph.D.
Department of Biostatistics and Medical Informatics
University of Wisconsin Medical School
Madison, Wisconsin

Janet M. McNicholl, M.D., MS
Immunogenetics Section
Immunology Branch
Division of AIDS, STD and TB Laboratory Research
National Center for Infectious Diseases
Centers for Disease Control and Prevention
Atlanta, Georgia

Beth O'Grady, B.S.
Department of Speech Communication
University of Georgia
Athens, Georgia

Leslie A. O'Leary, Ph.D.
Office of Genomics and Disease Prevention
Centers for Disease Control and Prevention
Atlanta, Georgia

Richard S. Olney, M.D. M.P.H.
Division of Birth Defects and Pediatric Genetics
National Center for Environmental Health
Centers for Disease Control and Prevention
Atlanta, Georgia

Gilbert S. Omenn, M.D., Ph.D.
Departments of Medicine, Genetics, and Public Health
University of Michigan
Ann Arbor, Michigan

Roxanne L. Parrott, Ph.D.
Department of Speech Communication
University of Georgia
Athens, Georgia

Kenneth A. Pass, Ph.D.
Newborn Screening and Genetic Services
Wadsworth Center
State of New York Department of Health
Albany, New York

Victor B. Penchaszadeh, M.D., M.S.P.H.
Albert Einstein School of Medicine
Division of Medical Genetics
Beth Israel Medical Center
New York, New York

Beth N. Peshkin, M.S., C.G.C.
Department of Oncology
Georgetown University Medical Center
Lombardi Cancer Center
Washington, DC

Ronald H. Laessig, Ph.D.
Department of Preventive Medicine
University of Wisconsin Medical School
State Laboratory of Hygiene
Madison Wisconsin

Anita Laxova, B.S.
Department of Pediatrics
University of Wisconsin Medical School
Madison, Wisconsin

Caryn Lerman, Ph.D.
Department of Oncology
Georgetown University Medical Center
Lombardi Cancer Center
Washington, DC

Jane S. Lin-Fu, M.D.
Genetic Services Branch
Maternal and Child Health Bureau
Health Resources and Services Administration
U.S. Department of Health and Human Services
Potomac, Maryland

Michele Lloyd-Puryear, M.D, Ph.D.
Genetic Services Branch
Maternal and Child Health Bureau
Health Resources and Services Administration
U.S. Department of Health and Human Services
Rockville, Maryland

Carl F. Marrs, Ph.D.
Department of Epidemiology
University of Michigan
Ann Arbor, Michigan

Pierpaolo Mastroiacovo, M.D.
Institute of Pediatrics
Catholic University
International Center for Birth Defects
Rome, Italy

Donald R. Mattison, M.D.
March of Dimes Birth Defects Foundation
White Plains, New York

Sharon McDonnell, M.D, M.P.H.
Division of Nutrition and Physical Activity
National Center for Chronic Disease Prevention and Health Promotion
Centers for Disease Control and Prevention
Atlanta, Georgia

Patricia A. Peyser, Ph.D.
Department of Epidemiology
Public Health Genetics
Interdepartmental Concentration
School of Public Health
University of Michigan
Ann Arbor, Michigan

Toni I. Pollin, M.S.
University of Maryland School of Medicine
Division of Diabetes, Obesity, and Nutrition
Baltimore, MD

Nancy Press, Ph.D.
Department of Public Health and Preventive Medicine
Oregon Health Sciences University
Portland, Oregon

Frederick R. Rickles, M.D.
George Washington University Medical Center
Washington, DC

Michael J. Rock, M.D.
Department of Pediatrics
University of Wisconsin
Madison, Wisconsin

Paul A. Schulte, Ph.D.
Education and Information Division
National Institute for Occupational Safety and Health
Centers for Disease Control and Prevention
Department of Health and Human Services
Cincinnati, Ohio

J. Michael Soucie, Ph.D.
Hematologic Diseases Branch
Division of AIDS, STD and TB Laboratory Research
National Center for Infectious Diseases
Centers for Disease Control and Prevention
Atlanta, Georgia

Mark L. Splaingard, M.D.
Pulmonary Department
Children's Hospital of Wisconsin
Milwaukee, Wisconsin

Leo P ten Kate, M.D., Ph.D.
Free University
Amsterdam, The Netherlands

Steven M. Teutsch, M.D., M.P.H.
Outcomes Research & Management
Merck & Co., Inc.
West Point, Pennsylvania

Elizabeth J. Thomson, M.S., R.N., C.G.C.
National Human Genome Research Institute
National Institutes of Health
Bethesda, Maryland

Deborah Tress, J.D.
Office of the General Counsel
Centers for Disease Control and Prevention
Atlanta, Georgia

Venkatachalam Udhayakumar, Ph.D.
Molecular Vaccine Section, Immunology Branch
Division of Parasitic Diseases
National Center for Infectious Diseases
Centers for Disease Control and Prevention
Atlanta, Georgia

Michael S. Watson, Ph.D.
Washington University School of Medicine
Washington University Medical Center
St. Louis Children's Hospital
St. Louis, Missouri

Joan O. Weiss, M.S.W.
Alliance of Genetic Support Groups
Chevy Chase, Maryland

Benjamin S. Wilfond, M.D.
National Human Genome Research Institute
Department of Clinical Bioethics
National Institutes of Health
Bethesda, Maryland

Nachama Wilker
Alliance of Genetic Support Groups
Washington, DC

Roger R. Williams, M.D.
Cardiovascular Genetics Research Clinic
University of Utah School of Medicine
Salt Lake City, Utah

Mary Ann Wilson
Alliance of Genetic Support Groups
Washington, DC

Lily Wu, Ph.D.
Cardiovascular Genetics Research Clinic
University of Utah School of Medicine
Salt Lake City, Utah

Lan Zeng, M.S.
Department of Pediatrics
University of Wisconsin Medical School
Madison, Wisconsin


Deceased.

 


Table of Contents


Part I GENETICS AND PUBLIC HEALTH: AN OVERVIEW

  1. Genetics and Public Health: A Framework for the Integration of Human Genetics into Public Health Practice, page 3
    Muin J. Khoury, Wylie Burke, and Elizabeth J. Thomson
  2. Genetics and Public Health: Historical Perspectives and Current Challenges and Opportunities, page 25
    Gilbert S. Omenn
  3. The Human Genome Project: Evolving Status and Emerging Opportunities for Disease Prevention, page 45
    Leslie Fink and Francis S. Collins
  4. Models of Public Health Genetic Policy Development, page 61
    Benjamin S. Wilfond and Elizabeth J. Thomson
  5. The Multidisciplinary Nature of Public Health Genetics in Research and Education, page 83
    Melissa A. Austin and Patricia A. Peyser

 

Part II PUBLIC HEALTH ASSESSMENT

  1. Epidemiology, Molecular Biology, and Public Health, page 103
    Janice S. Dorman and Donald R. Mattison
  2. Surveillance for Birth Defects and Genetic Diseases, page 123
    Lorenzo D. Botto and Pierpaolo Mastroiacovo
  3. Surveillance for Hemophilia and Inherited Hematologic Disorders, page 141
    J. Michael Soucie, Frederick R. Rickles, and Bruce L. Evatt
  4. Public Health Assessment of Genetic Predisposition to Cancer, page 151
    Steven S. Coughlin and Wylie Burke
  5. Public Health Assessment of Genetic Susceptibility to Infectious Diseases: Malaria, Tuberculosis, and HIV, page 173
    Janet M. McNicholl, Marie V. Downer, Michael Aidoo, Thomas Hodge, and, Venkatachalam Udhayakumar
  6. Public Health Assessment of Genetic Information in the Occupational Setting, page 203
    Paul A. Shulte and D. Gayle DeBord

 

Part III EVALUATION OF GENETIC TESTING

  1. Medical and Public Health Strategies for Ensuring the Quality of Genetic Testing, page 223
    Michael S. Watson
  2. Newborn Screening Quality Assurance, page 243
    W. Harry Hannon, L. Omar Henderson, and Carol J. Bell

 

Part IV DEVELOPING, IMPLEMENTING, AND EVALUATING POPULATION INTERVENTIONS

  1. Public Health Needs Assessment for State-Based Genetic Services Delivery, page 261
    Robert M. Fineman and Debra Lochner Doyle
  2. Access to Genetic Services in the United States: A Challenge to Genetics in Public Health,   page 273
    Jane S. Lin-Fu and Michele Lloyd-Puryear 
  3. Community Genetics in The Netherlands, page 291
    Leo P. ten Kate
  4. Delivery of Genetic Services in Developing Countries, page 301
    Victor B. Penchaszadeh
  5. Genetics and Prevention Effectiveness, page 329
    Scott D. Grosse and Steven M. Teutsch
  6. Impact of Genetic Information and Genetic Counseling on Public Health, page 361
    Judith L. Benkendorf, Beth N. Peshkin, and Caryn Lerman
  7. Lessons Learned from Newborn Screening for Phenylketonuria, page 385
    Kenneth A. Pass
  8. Newborn Screening for Cystic Fibrosis: A Paradigm for Public Health Genetics Policy Development, page 405
    Philip M. Farrell, Michael R. Kosorok, Michael J. Rock, Anita Laxova, Lan Zeng, Gary Hoffman, Ronald H. Laessig, Mark L. Splaingard, and the Wisconsin Cystic Fibrosis Neonatal Screening Study Group
  9. Newborn Screening for Sickle Cell Disease: Public Health Impact and Evaluation, page 431
    Richard S. Olney
  10. Public Health Strategies to Prevent the Complications of Hemochromatosis, page 447
    Wylie Burke, Mary Cogswell, Sharon McDonnell, and Adele Franks
  11. Applying Genetic Strategies to Prevent Atherosclerosis, page 463
    Roger R. Williams, Paul N. Hopkins, Lily L. Wu, and Steven C. Hunt

 

Part V GENETICS AND PUBLIC HEALTH: ETHICAL, LEGAL, AND SOCIAL ISSUES

  1. Genetics, Public Health, and the Law, page 489
    Ellen Wright Clayton
  2. Genetics and Public Health: Informed Consent Beyond the Clinical Encounter, page 505
    Nancy Press and Ellen Wright Clayton
  3. Public Health Surveillance of Genetic Information: Ethical and Legal Responses to Social Risk, page 527
    Scott Burris, Lawrence O. Gostin, and Deborah Tress

 

Part VI COMMUNICATION, EDUCATION, AND INFORMATION DISSEMINATION

  1. Principles and Practices of Communication Processes for Genetics in Public Health, page 549
    Celeste M. Condit, Roxanne L. Parrott, and Beth O'Grady
  2. Training in Public Health Genetics, page 569
    Susan M. Caumartin, Diane L. Baker, and Carl F. Marrs
  3. Consumer Perspectives on Genetic Testing: Lessons Learned, page 579
    Mary E. Davidson, Karey David, Nancy Hsu, Toni I. Pollin, Joan O. Weiss, Nachama Wilker, and Mary Ann Wilson
  4. Using the Internet to Disseminate Genetics Information for Public Health, page 603
    Leslie A. O'Leary and Debra L. Collins

 

Reviews

Book reviewed by M. Rothstein in the New England Journal of Medicine, November 23, 2000 (subscription paid acccess only)

Book reviewed by Belle-Isle, L. in Chronic Dis Can; 2000; 21(3):157-8.

Book reviewed by Dr. Ron Zimmern in Community Genetics, 2001

Book reviewed by Patricia Baird in Annals of the Royal College of Physicians and Surgeons of Canada, 2001 (March issue).

Book reviewed by P. Phaorah in British Medical Journal, 2001 (April issue).

Book reviewed by M.Caggana in Am J Human Genetics, 2001 (November issue).

Book reviewed by Joel Zlotogora in Am J Medical Genetics, 2002 (July issue).


 

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  • Additional information for Public Health Genomics is available on our contact page.
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