Advances in genetics and genomics are transforming medical practice, resulting in a dramatic growth of genetic testing in the health care system. The rapid development of new technologies, however, has also brought challenges, including the need for rigorous evaluation of the validity and utility of genetic tests, questions regarding the best ways to incorporate them into medical practice, and how to weigh their cost against potential short- and long-term benefits. As the availability of genetic tests increases so do concerns about the achievement of meaningful improvements in clinical outcomes, costs of testing, and the potential for accentuating medical care inequality.

Given the rapid pace in the development of genetic tests and new testing technologies, An Evidence Framework for Genetic Testing seeks to advance the development of an adequate evidence base for genetic tests to improve patient care and treatment. Additionally, this report recommends a framework for decision-making regarding the use of genetic tests in clinical care.

Contents

• The National Academies of SCIENCES • ENGINEERING • MEDICINE
• COMMITTEE ON THE EVIDENCE BASE FOR GENETIC TESTING
• REVIEWERS
• ACRONYMS AND ABBREVIATIONS
• Summary
  • STATEMENT OF TASK
  • APPROACH TO THE TASK
  • USES OF GENETIC TESTING
  • ETHICAL, LEGAL, AND SOCIAL IMPLICATIONS
  • ASSESSMENT OF GENETIC TESTS
  • EVIDENCE
  • RESEARCH RECOMMENDATION
  • OVERVIEW OF THE PROPOSED FRAMEWORK
  • FRAMEWORK RECOMMENDATION
• 1. Introduction
  • GENETICS AND MEDICINE: A BRIEF HISTORICAL PERSPECTIVE
  • STATEMENT OF TASK
  • APPROACH TO THE TASK
  • ORGANIZATION OF THE REPORT
• 2. Genetic Testing
  • GENOMIC FEATURES AND GENETIC VARIATION
  • GENETIC VARIATION AND HEALTH OUTCOMES
  • ADDITIONAL COMPLEXITY OF MONOGENIC DISORDERS
  • GENETIC TESTS
• 3. Genetic Test Assessment
  • EVALUATING GENETIC TESTS
  • METHODS FOR EVALUATING GENETIC TESTS
  • COMPARATIVE ANALYSIS OF EVALUATION METHODS
  • INTEGRATION BETWEEN GENETIC TEST ASSESSMENT METHODS AND RELEVANT OUTCOMES
  • SUMMARY
• 4. Evidence
  • ANALYTIC VALIDITY
  • CLINICAL VALIDITY
  • CLINICAL UTILITY
  • EVALUATION OF EVIDENCE ON GENETIC TESTS
  • RECOMMENDATION
• 5. An Evidence Framework for Genetic Testing
  • OVERVIEW OF THE PROPOSED FRAMEWORK
  • RECOMMENDATION
• APPENDIXES
  • A. Understanding Genetic Variance and Phenotype Expression
  • B. The GETT Checklist
  • C. Using Evidence to Inform Clinical and Policy Decisions
• References
• Glossary

Suggested citation:

National Academies of Sciences, Engineering, and Medicine. 2017. An evidence framework for genetic testing. Washington, DC: The National Academies Press. doi: 10.17226/24632.