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Promoting Safe and Effective Genetic Testing in the United States

Promoting Safe and Effective Genetic Testing in the United States

Table of Contents Acknowledgements and Executive Summary Chapter 1 Chapter 2 Chapter 3 Chapter 4 Chapter 5 Chapter 6 Appendix 1 Appendix 2 Appendix 3 Appendix 4 Appendix 5 Appendix 6 Glossary

Table of Contents

Final Report of the Task Force on Genetic Testing

The Task Force was created by the National Institutes of Health-Department of Energy Working Group on Ethical, Legal and Social Implications of Human Genome Research.

September 1997

EDITORS
Neil A. Holtzman, M.D., MPH
Michael S. Watson, Ph.D.

ACKNOWLEDGEMENTS

EXECUTIVE SUMMARY

  • Origin and Work of the Task Force
  • Definition of Genetic Tests
  • The Need for Recommendations
  • Need for an Advisory Committee on Genetic Testing
  • Overarching Principles
    • Informed Consent
      • Test Development
      • Testing in Clinical Practice
      • Newborn Screening
    • Prenatal and Carrier Testing
    • Testing of Children
    • Confidentiality
    • Discrimination
      • Consumer Involvement in Policy Making

ENSURING THE SAFETY AND EFFECTIVENESS OF NEW GENETIC TESTS

  • Ensuring Compliance with Criteria for Safety and Effectiveness
    • Conflict of Interest
    • Enforcement
    • Data Collection
    • The Need for Post-market Surveillance
  • Evidence-based Entry of New Genetic Tests into Clinical Practice
    • Local Review
    • National Review

ENSURING THE QUALITY OF LABORATORIES PERFORMING GENETIC TESTS

  • Principles for Laboratories Adopting New Genetic Tests
  • Requirements Under CLIA
    • Complexity Ratings
    • CLIA Specialties
    • Laboratory Personnel
  • Monitoring Laboratory Performance
    • Proficiency Testing (PT)
    • Onsite Inspection
  • Making Laboratory Performance Assessments Public
  • A Central Repository of Cell Lines and DNA
  • The Importance of the Pre- and Post-analytic Phases of Testing
  • Direct Marketing of Genetic Tests to the Public
  • International Harmonization

IMPROVING PROVIDERS' UNDERSTANDINGS OF GENETIC TESTING

  • A Role for Non-genetic Health Care Professionals
  • Policies for Improving the Abilities of Non-genetic Health Care Professionals
    • Greater Public Knowledge of Genetics
    • Undergraduate and Graduate Medical Education
    • Licensure and Certification
    • Continuing Medical Education
    • Demonstrating Provider Competence
  • Other Models
    • Nursing
    • Community and Public Health

GENETIC TESTING FOR RARE INHERITED DISORDERS

  • Dissemination of Information About Rare Diseases
  • Ensuring Continuity and Quality of Tests for Rare Diseases
  • Ensuring the Quality of Genetic Tests for Rare Diseases

Chapter 1: INTRODUCTION

  • ORIGIN AND WORK OF THE TASK FORCE
  • DEFINITION OF GENETIC TESTS
  • REVIEW OF GENETIC TESTING
  • THE NEED FOR RECOMMENDATIONS
  • SCOPE OF THE REPORT
  • NEED FOR AN ADVISORY COMMITTEE ON GENETIC TESTING
  • OVERARCHING PRINCIPLES
    • Informed Consent
      • Test Development
      • Testing in Clinical Practice
      • Newborn Screening
    • Prenatal and Carrier Testing
    • Testing of Children
    • Confidentiality
    • Discrimination
    • Consumer Involvement in Policy Making
    • Issues Not Covered

Chapter 2: ENSURING THE SAFETY AND EFFECTIVENESS OF NEW

  • GENETIC TESTS
  • CRITERIA FOR DEVELOPING GENETIC TESTS
    • Establishing Associations Between a Disease, Genes, and Inherited Mutations
    • Analytical Validity
    • Clinical Validity
      • Heterogeneity
      • Penetrance
    • Clinical Utility
  • ENSURING COMPLIANCE WITH CRITERIA
    • Institutional Review Board (IRB) Review
      • Is Review of the Scientific Merit of Genetic Test Protocols Within the
      • Purview of IRBs?
      • Improving IRB's Ability to Review Genetic Test Protocols
      • Conflict of Interest
      • Enforcement
    • Data Collection
    • The Need for Post-market Surveillance
  • EVIDENCE-BASED ENTRY OF NEW GENETIC TESTS INTO CLINICAL PRACTICE
    • Local Review
    • National Review

Chapter 3: ENSURING THE QUALITY OF LABORATORIES PERFORMING GENETIC TESTS

  • PRINCIPLES FOR LABORATORIES ADOPTING NEW GENETIC TESTS
  • CLINICAL LABORATORY IMPROVEMENT AMENDMENTS OF 1988 (CLIA)
    • Complexity Ratings
    • CLIA Specialties
  • LABORATORY PERSONNEL
    • Laboratory Director
    • Testing Personnel
  • MONITORING LABORATORY PERFORMANCE
    • Proficiency Testing
    • Onsite Inspection
    • Making Laboratory Performance Assessments Public
  • A CENTRAL REPOSITORY OF CELL LINES AND DNA
  • THE IMPORTANCE OF THE PRE- AND POST-ANALYTIC PHASES OF TESTING
    • Pre-analytic Phase
    • Post-analytic Phase
    • Ensuring the Quality of Pre- and Post-analytic Phases
  • DIRECT MARKETING OF GENETIC TESTS TO THE PUBLIC
  • INTERNATIONAL HARMONIZATION

Chapter 4: IMPROVING PROVIDERS' UNDERSTANDINGS OF GENETIC TESTING

  • A ROLE FOR NON-GENETIC HEALTH CARE PROFESSIONALS
    • Eliciting Risks of Genetic Disease in Healthy People
      • Family History
      • Past History
      • Genetic Testing
    • The Role of Non-genetic Health Care Providers
  • OBSTACLES TO THE INVOLVEMENT OF NON-GENETIC PROFESSIONALS
  • POLICIES FOR IMPROVING THE ABILITY OF NON-GENETIC HEALTH
  • CARE PROFESSIONALS TO BE INVOLVED IN GENETIC TESTING
    • Greater Public Knowledge of Genetics
    • Professional Education
      • Undergraduate and Graduate Medical Education
      • Licensure and Certification
      • Continuing Medical Education
    • Demonstrating Provider Competence
      • Prerequisites
      • Enforcement
    • Assisting Providers in Gaining Competence in Genetics
  • OTHER MODELS
    • Nursing
    • Community and Public Health

Chapter 5: GENETIC TESTING FOR RARE INHERITED DISORDERS

  • DISSEMINATION OF INFORMATION ABOUT RARE DISEASES
    • Research Activity
    • Finding Information on the Interpretation of Clinical Findings
    • Finding Clinical Diagnostic Laboratories
    • Need for Coordination
  • ENSURING CONTINUITY AND QUALITY OF TESTS FOR RARE DISEASES
  • ENSURING THE QUALITY OF GENETIC TESTS FOR RARE DISEASES

Chapter 6: SUMMARY AND CONCLUSIONS

Appendix 1: Individuals and Organizations Who Provided Comments to the Task Force

Appendix 2: Response of the Task Force to the Food and Drug Administration's Proposed Rule on Analyte Specific Reagents

Appendix 3: State of the Art of Genetic Testing in the United States: Survey of Biotechnology Companies and Nonprofit Clinical Laboratories and Interviews of Selected Organizations

Appendix 4: Informational Materials about Genetic Tests

Appendix 5: The History of Newborn Phenylketonuria Screening in the U.S.

Appendix 6: Scientific Advances and Social Risks: Historical Perspectives of Genetic Screening Programs for Sickle Cell Disease, Tay-Sachs Disease, Neural Tube Defects and Down Syndrome, 1970-1997

GLOSSARY

Last updated: October 01, 2012