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 -- Medicare -- Medicaid -- 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.