Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening.

Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decisionmaking, public health objectives, cost, and more. Among the important issues covered:

• Quality control in genetic testing.
• Appropriate roles for public agencies, private health practitioners, and laboratories.
• Value-neutral education and counseling for persons considering testing.
• Use of test results in insurance, employment, and other settings.

Contents

• COMMITTEE ON ASSESSING GENETIC RISKS
• Preface
• Acknowledgments
• Notes
• Executive Summary
• 1. Setting the Stage
  • RECOMBINANT DNA TECHNOLOGY, GENE MAPPING, AND IDENTIFICATION OF DISEASE-RELATED GENES
  • LESSONS FROM THE PAST
  • UPDATING THE FINDINGS OF THE 1975 NAS COMMITTEE
  • REFERENCES
• 2. Genetic Testing and Assessment
  • BASIC HUMAN GENETICS AND GENETIC ANALYSIS
  • NEWBORN SCREENING
  • CARRIER TESTING AND SCREENING
  • PRENATAL DIAGNOSIS
  • TESTING FOR LATE-ONSET DISORDERS
  • CONCLUSIONS AND RECOMMENDATIONS
  • REFERENCES
• 3. Laboratory Issues in Human Genetics
  • PROGRAMS AND REGULATIONS FOR ASSESSING THE QUALITY OF LABORATORIES PROVIDING GENETIC TESTS
  • ENSURING THE SAFETY AND EFFECTIVENESS OF NEW GENETIC TESTS
  • NEWBORN AND OTHER GENETIC SCREENING PROGRAMS
  • FINDINGS AND RECOMMENDATIONS
  • REFERENCES
• 4. Issues in Genetic Counseling
  • BASIC COMPONENTS OF GENETIC COUNSELING
  • THE CONTEXTS OF GENETIC COUNSELING
  • NEED FOR A MORE GENETICALLY LITERATE PUBLIC
  • CONCLUSIONS AND RECOMMENDATIONS
  • NOTES
  • REFERENCES
• 5. Public Education in Genetics
  • BARRIERS TO OVERCOME
  • WHAT DO PEOPLE KNOW?
  • WHAT IS GENETICS EDUCATION?
  • PUBLIC HEALTH EDUCATION
  • BENEFITS AND BURDENS OF GENETICS KNOWLEDGE
  • FINDINGS AND RECOMMENDATIONS
  • NOTES
  • REFERENCES
• 6. Personnel Issues in Human Genetics
  • GENETIC SPECIALISTS
  • GENETICS INSTRUCTION IN MEDICAL SCHOOLS
  • OTHER HEALTH PROFESSIONALS
  • FINDINGS AND RECOMMENDATIONS
  • NOTE
  • REFERENCES
• 7. Financing of Genetic Testing and Screening Services
  • WHO PAYS FOR GENETIC TESTING AND COUNSELING?
  • PRIVATE SOURCES OF PAYMENT FOR GENETICS SERVICES
  • PUBLIC SOURCES OF PAYMENT FOR GENETICS SERVICES
  • CHAMPUS
  • RECOMMENDATIONS
  • NOTES
  • REFERENCES
• 8. Social, Legal, and Ethical Implications of Genetic Testing
  • KEY DEFINITIONS
  • CURRENT PRACTICE OF PROTECTION IN GENETICS
  • APPLYING THE PRINCIPLES TO GENETIC TESTING
  • ISSUES IN GENETIC TESTING
  • FINDINGS AND RECOMMENDATIONS
  • NOTES
• 9. Research and Policy Agenda
  • POLICY OVERSIGHT FOR GENETIC TESTING AND SCREENING
  • NEED FOR ADDITIONAL STANDARDS FOR GENETIC TESTING
  • RESEARCH NEEDS
  • CRITICAL DEFICIENCIES IN DATA ON GENETICS SERVICES
  • RESEARCH ON POPULATION GENETICS
  • REFERENCES
• APPENDIX A. Workshop Participants
• APPENDIX B. Committee Biographies

NOTICE: The project that is the subject of this report was approved by the Governing Board of the National Research Council, whose members are drawn from the councils of the National Academy of Sciences, the National Academy of Engineering, and the Institute of Medicine. The members of the committee responsible for the report were chosen for their special competencies and with regard for appropriate balance.

This report has been reviewed by a group other than the authors according to procedures approved by a Report Review Committee consisting of members of the National Academy of Sciences, the National Academy of Engineering, and the Institute of Medicine.

This project was funded by the National Center for Human Genome Research of the National Institutes of Health (Contract No. NO1-HG-0-001) and by the Health Effects Research Program of the Department of Energy (Contract No. DE-FG05-91ER61115; DOE's support does not constitute an endorsement of the views expressed in the report). The Lucille P. Markey Charitable Trust provided supplemental funding of the study. Additional support for this project was provided by independent Institute of Medicine funds.

The Institute of Medicine was chartered in 1970 by the National Academy of Sciences to enlist distinguished members of the appropriate professions in the examination of policy matters pertaining to the health of the public. In this, the Institute acts under both the Academy's 1863 congressional charter responsibility to be an adviser to the federal government and its own initiative in identifying issues of medical care, research, and education. Dr. Kenneth I. Shine is president of the Institute of Medicine.