Genetics and Public Health in the 21st Century

Using Genetic Information to Improve Health and Prevent Disease

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

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

6. Epidemiology, Molecular Biology, and Public Health, page 103
   Janice S. Dorman and Donald R. Mattison
7. Surveillance for Birth Defects and Genetic Diseases, page 123
   Lorenzo D. Botto and Pierpaolo Mastroiacovo
8. Surveillance for Hemophilia and Inherited Hematologic Disorders, page 141
   J. Michael Soucie, Frederick R. Rickles, and Bruce L. Evatt
9. Public Health Assessment of Genetic Predisposition to Cancer, page 151
   Steven S. Coughlin and Wylie Burke
10. 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
11. 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

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

Part IV DEVELOPING, IMPLEMENTING, AND EVALUATING POPULATION INTERVENTIONS

14. Public Health Needs Assessment for State-Based Genetic Services Delivery, page 261
    Robert M. Fineman and Debra Lochner Doyle
15. 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
16. Community Genetics in The Netherlands, page 291
    Leo P. ten Kate
17. Delivery of Genetic Services in Developing Countries, page 301
    Victor B. Penchaszadeh
18. Genetics and Prevention Effectiveness, page 329
    Scott D. Grosse and Steven M. Teutsch
19. Impact of Genetic Information and Genetic Counseling on Public Health, page 361
    Judith L. Benkendorf, Beth N. Peshkin, and Caryn Lerman
20. Lessons Learned from Newborn Screening for Phenylketonuria, page 385
    Kenneth A. Pass
21. 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
22. Newborn Screening for Sickle Cell Disease: Public Health Impact and Evaluation, page 431
    Richard S. Olney
23. Public Health Strategies to Prevent the Complications of Hemochromatosis, page 447
    Wylie Burke, Mary Cogswell, Sharon McDonnell, and Adele Franks
24. 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

25. Genetics, Public Health, and the Law, page 489
    Ellen Wright Clayton
26. Genetics and Public Health: Informed Consent Beyond the Clinical Encounter, page 505
    Nancy Press and Ellen Wright Clayton
27. 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

28. Principles and Practices of Communication Processes for Genetics in Public Health, page 549
    Celeste M. Condit, Roxanne L. Parrott, and Beth O’Grady
29. Training in Public Health Genetics, page 569
    Susan M. Caumartin, Diane L. Baker, and Carl F. Marrs
30. 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
31. 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).