Assessing genetic risks : implications for health and social policy / Lori B. Andrews ... [et al.], editors.

Format:

Book

Contributor:

Andrews, Lori B., 1952-

Language:

English

Subjects (All):

Medical genetics--Social aspects.

Medical genetics.

Human chromosome abnormalities--Diagnosis--Social aspects.

Human chromosome abnormalities.

Medical policy--United States.

Medical policy.

Physical Description:

xiv, 338 pages : illustrations.

Edition:

1st ed.

Place of Publication:

Washington, D.C. : National Academy Press, 1994.

Language Note:

English

Summary:

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:

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

Carrier Testing and Screening

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

Communicating Risks and Dealing with Uncertainty

Recognizing Social and Cultural Differences

THE CONTEXTS OF GENETIC COUNSELING

Determining Carrier Status

Screening for Late-Onset Disorders

Multiplex Testing

NEED FOR A MORE GENETICALLY LITERATE PUBLIC

Components of Genetic Counseling

Providing Genetic Counseling

The Contexts of Genetic Counseling

NOTES

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

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

NOTE

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

8 Social, Legal, and Ethical Implications of Genetic Testing

KEY DEFINITIONS

Autonomy

Ethical Analysis

Legal Issues

Privacy

Equity

CURRENT PRACTICE OF PROTECTION IN GENETICS

APPLYING THE PRINCIPLES TO GENETIC TESTING

ISSUES IN GENETIC TESTING

Special Issues in the Screening and Testing of Children

Voluntariness of Subsequent Uses

Disclosing Genetic Information to Spouses

Disclosing Genetic Information to Relatives

Confidentiality and Discrimination When Third Parties Seek Genetic Information

Overall Principles

Screening and Testing of Children

Subsequent Uses

Disclosure to Spouses and Relatives

Discrimination in Insurance and Employment

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

Predispositional Genetic Testing and Screening

Testing of Minors

RESEARCH NEEDS

Assessment of ELSI Research and Policy Studies

Laboratory Quality Assurance

Genetics Knowledge and Attitudes of Health Professionals

Genetics Education and Counseling

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

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

PRIVACY AND INSURANCE

PARTICIPANTS IN THE SEPTEMBER 1992 PUBLIC FORUM ON ASSESSING GENETIC RISKS: ISSUES AND IMPLICATIONS FOR HEALTH

APPENDIX B Committee Biographies

Index.

Notes:

Bibliographic Level Mode of Issuance: Monograph

Includes bibliographical references and index.

ISBN:

9786610196401

9781280196409

1280196408

9780309585057

0309585058

9780585002170

0585002177

OCLC:

814272375