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Promoting Safe and Effective Genetic Testing in the United States

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