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 decision-making, 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.
- ASSESSING GENETIC RISKS
- Copyright
- Preface
- ADDITIONAL VIEWS OF THE CHAIRMAN
- Acknowledgments
- Contents
- Executive Summary
- PROMISE AND PROBLEMS IN GENETIC TESTING
- COMMITTEE ON ASSESSING GENETIC RISKS
- GENETIC TESTING AND ASSESSMENT
- Newborn Screening
- Carrier Identification
- Prenatal Diagnosis
- Testing for Late-Onset Disorders
- Testing of Children or Minors
- LABORATORY ISSUES IN GENETIC TESTING
- Genetic Tests for Rare Disorders
- CLIA88
- Genetic Tests and the FDA
- GENETIC COUNSELING
- Basic Tenets of Genetic Counseling
- Tailoring Counseling to the Client
- PUBLIC EDUCATION
- PROFESSIONAL EDUCATION
- FINANCING OF GENETIC TESTING SERVICES
- SOCIAL, LEGAL, AND ETHICAL ISSUES IN GENETIC TESTING
- Voluntariness
- Informed Consent
- Confidentiality
- Genetic Discrimination in Health Insurance
- Genetic Discrimination in Employment
- RESEARCH AND POLICY AGENDA
- Policy Oversight
- Research Policy
- Need for Additional Standards
- Policy Research Needs
- 1 Setting the Stage
- RECOMBINANT DNA TECHNOLOGY, GENE MAPPING, AND IDENTIFICATION OF DISEASE-RELATED GENES
- Implications of Recombinant DNA Technology for Genetic Testing
- Other Recent Advances and Their Implications for Genetic Testing
- Limitations of Genetic Testing
- LESSONS FROM THE PAST
- Phenylketonuria
- Sickle Cell Anemia and Trait
- Tay-Sachs Disease and Trait
- Thalassemia
- UPDATING THE FINDINGS OF THE 1975 NAS COMMITTEE
- Aims of Testing and Screening
- Criteria for Testing
- Quality of Testing
- Conflicts of Interest
- Pilot Studies
- Auspices and Settings
- Standards of Care
- Age for Testing
- Education of the Public
- Ethical Issues
- Allocation of Resources
- Recognition of Human Diversity and Respect and Tolerance for People with Disabilities
- REFERENCES
- 2 Genetic Testing and Assessment
- BASIC HUMAN GENETICS AND GENETIC ANALYSIS
- Technologies for Detecting Genetic Disorders
- NEWBORN SCREENING
- CARRIER TESTING AND SCREENING
- PRENATAL DIAGNOSIS
- Critical Issues in Prenatal Diagnosis
- TESTING FOR LATE-ONSET DISORDERS
- Monogenic Disorders of Late Onset
- Huntington Disease
- Alzheimer Disease
- Hemochromatosis
- Familial Hypercholesterolemia
- Polycystic Kidney Disease
- Inherited Susceptibility to Cancers
- Testing for Multifactorial Genetic Disorders
- Coronary Heart Disease
- Hypertension
- Cancers of Complex Origin
- Diabetes
- Rheumatoid Arthritis
- Infectious Diseases
- Psychiatric Diseases
- CONCLUSIONS AND RECOMMENDATIONS
- Newborn Screening
- Carrier Testing and Screening
- Prenatal Diagnosis
- Testing for Late-Onset Disorders
- REFERENCES
- 3 Laboratory Issues in Human Genetics
- PROGRAMS AND REGULATIONS FOR ASSESSING THE QUALITY OF LABORATORIES PROVIDING GENETIC TESTS
- State Assessments of Laboratories Providing Genetic Tests
- Voluntary Quality Assurance and Proficiency Testing in Genetics
- Costs, Benefits, and Limitations of State and Voluntary Quality Assurance Programs
- Federal Regulation of Clinical Laboratories
- History
- Laboratories Covered by CLIA88
- CLIA88 Regulations
- Genetic Tests Under CLIA88
- Research Laboratories and Tests for Rare Disorders
- Interpretation of Laboratory Test Results
- ENSURING THE SAFETY AND EFFECTIVENESS OF NEW GENETIC TESTS
- Premarket Approval of Medical Devices
- Collection of Data for Test Validation
- Humanitarian Exemptions
- Investigational Use of New Devices
- Institutional Review Boards and Genetic Tests
- Inappropriate Use of Investigational Devices
- NEWBORN AND OTHER GENETIC SCREENING PROGRAMS
- FINDINGS AND RECOMMENDATIONS
- Ensuring the Quality of Laboratories
- Ensuring the Safety of New Tests
- REFERENCES
- 4 Issues in Genetic Counseling
- BASIC COMPONENTS OF GENETIC COUNSELING
- Awareness of the Impediments to Effective Genetic Counseling
- Nondirectiveness
- Informed Consent
- Confidentiality
- Communicating Risks and Dealing with Uncertainty
- Recognizing Social and Cultural Differences
- THE CONTEXTS OF GENETIC COUNSELING
- Newborn Screening
- Determining Carrier Status
- Prenatal Diagnosis
- Screening for Late-Onset Disorders
- Multiplex Testing
- NEED FOR A MORE GENETICALLY LITERATE PUBLIC
- CONCLUSIONS AND RECOMMENDATIONS
- Components of Genetic Counseling
- Providing Genetic Counseling
- The Contexts of Genetic Counseling
- Newborn Screening
- Determining Carrier Status
- Prenatal Diagnosis
- Screening for Late-Onset Disorders
- Multiplex Testing
- NOTES
- REFERENCES
- 5 Public Education in Genetics
- BARRIERS TO OVERCOME
- WHAT DO PEOPLE KNOW?
- WHAT IS GENETICS EDUCATION?
- Formal Genetics Education
- Genetics Education for the Future
- DNA Learning Center
- Biological Sciences Curriculum Study
- Project Genethics
- University of Kansas Medical Center
- Informal Educational Interventions
- PUBLIC HEALTH EDUCATION
- BENEFITS AND BURDENS OF GENETICS KNOWLEDGE
- FINDINGS AND RECOMMENDATIONS
- NOTES
- REFERENCES
- 6 Personnel Issues in Human Genetics
- GENETIC SPECIALISTS
- Background Data on Genetics Professionals
- Training Programs
- Master's-Level Genetic Counselors
- Non-Master's-Level Counselors
- Certification and Accreditation of Genetics Specialists
- Related Genetics Certification and Training: Cytogenetics
- GENETICS INSTRUCTION IN MEDICAL SCHOOLS
- Continuing Medical Education
- Professional Statements, Guidance, and Proficiencies
- OTHER HEALTH PROFESSIONALS
- Nurses in Genetics
- Social Workers in Genetics
- Public Health
- 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
- Self-Insurance by Employers
- Key Health Insurance Policy Barriers to Reimbursement for Genetics Services
- Survey of Attitudes of Health Insurers About the Use of Genetic Information
- The Impact of CPT Codes on Reimbursement
- PUBLIC SOURCES OF PAYMENT FOR GENETICS SERVICES
- CHAMPUS
- State Genetics Services Programs
- Federal Support for Genetics Services Programs
- RECOMMENDATIONS
- NOTES
- REFERENCES
- 8 Social, Legal, and Ethical Implications of Genetic Testing
- KEY DEFINITIONS
- Autonomy
- Ethical Analysis
- Legal Issues
- Privacy
- Ethical Analysis
- Legal Issues
- Confidentiality
- Ethical Analysis
- Legal Issues
- Equity
- Ethical Analysis
- Legal Issues
- CURRENT PRACTICE OF PROTECTION IN GENETICS
- APPLYING THE PRINCIPLES TO GENETIC TESTING
- ISSUES IN GENETIC TESTING
- Autonomy
- Special Issues in the Screening and Testing of Children
- Voluntariness of Subsequent Uses
- Confidentiality
- Disclosing Genetic Information to Spouses
- Disclosing Genetic Information to Relatives
- Confidentiality and Discrimination When Third Parties Seek Genetic Information
- FINDINGS AND RECOMMENDATIONS
- Overall Principles
- Autonomy
- Informed Consent
- Multiplex Testing
- Voluntariness
- Screening and Testing of Children
- Subsequent Uses
- Confidentiality
- Disclosure to Spouses and Relatives
- Discrimination in Insurance and Employment
- NOTES
- 9 Research and Policy Agenda
- POLICY OVERSIGHT FOR GENETIC TESTING AND SCREENING
- National Policy Oversight
- National Advisory Committee and Working Group
- State Oversight: Role of State Commissions
- Research Policy for Studies Involving Genetic Testing
- NEED FOR ADDITIONAL STANDARDS FOR GENETIC TESTING
- Prenatal Diagnosis
- Predispositional Genetic Testing and Screening
- Testing of Minors
- Multiplex Testing
- RESEARCH NEEDS
- Assessment of ELSI Research and Policy Studies
- Pilot Studies
- Laboratory Quality Assurance
- Genetics Knowledge and Attitudes of Health Professionals
- Genetics Education and Counseling
- Informed Consent
- Psychosocial Factors in Genetic Testing
- Culturally Appropriate Genetic Testing and Counseling
- Development of Balanced Materials on Genetic Disorders
- Measuring the Effectiveness of Genetic Education and Counseling
- Public Education
- Computer Innovation in Genetics Education
- Cost-Effectiveness Analysis of Genetic Testing
- CRITICAL DEFICIENCIES IN DATA ON GENETICS SERVICES
- RESEARCH ON POPULATION GENETICS
- REFERENCES
- APPENDIX A Workshop Participants
- PARTICIPANTS IN THE FEBRUARY 1992 WORKSHOP ON LABORATORY ISSUES IN GENETICS
- PARTICIPANTS IN THE JUNE 1992 WORKSHOP ON ISSUES IN GENETIC SERVICES
- PARTICIPANTS IN THE SEPTEMBER 1992 MINI-WORKSHOPS ON GENETIC COUNSELING; PUBLIC EDUCATION; PRIVACY AND INSURANCE
- PARTICIPANTS IN THE SEPTEMBER 1992 PUBLIC FORUM ON ASSESSING GENETIC RISKS: ISSUES AND IMPLICATIONS FOR HEALTH
- APPENDIX B Committee Biographies
- Index
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