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Index
COVER PAGE
TITLE PAGE
COPYRIGHT PAGE
TABLE OF CONTENTS
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
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