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  • Formaat: 148 pages
  • Ilmumisaeg: 21-Mar-2017
  • Kirjastus: National Academies Press
  • Keel: eng
  • ISBN-13: 9780309453325
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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.

Table of Contents



Front Matter Summary 1 Introduction 2 Genetic Testing 3 Genetic Test Assessment 4 Evidence 5 An Evidence Framework for Genetic Testi Appendix A: Understanding Genetic Variance and Phenotype Expression Appendix B: The GETT Checklist Appendix C: Using Evidence to Inform Clinical and Policy Decisions References Glossary
Acronyms And Abbreviations xi
Summary 1(12)
Statement of Task
1(1)
Approach to the Task
2(1)
Uses of Genetic Testing
2(2)
Ethical, Legal, and Social Implications
4(1)
Assessment of Genetic Tests
4(1)
Evidence
5(2)
Research Recommendation
7(1)
Overview of the Proposed Framework
8(4)
Framework Recommendation
12(1)
1 Introduction
13(6)
Genetics and Medicine: A Brief Historical Perspective
14(1)
Statement of Task
15(1)
Approach to the Task
16(1)
Organization of the Report
17(2)
2 Genetic Testing
19(16)
Genomic Features and Genetic Variation
19(3)
Genetic Variation and Health Outcomes
22(1)
Additional Complexity of Monogenic Disorders
23(1)
Genetic Tests
23(12)
3 Genetic Test Assessment
35(24)
Evaluating Genetic Tests
35(1)
Methods for Evaluating Genetic Tests
36(13)
Comparative Analysis of Evaluation Methods
49(3)
Integration Between Genetic Test Assessment Methods and Relevant Outcomes
52(3)
Summary
55(4)
4 Evidence
59(20)
Analytic Validity
60(3)
Clinical Validity
63(7)
Clinical Utility
70(5)
Evaluation of Evidence on Genetic Tests
75(1)
Recommendation
76(3)
5 An Evidence Framework For Genetic Testing
79(10)
Overview of the Proposed Framework
80(6)
Recommendation
86(3)
APPENDIXES
A Understanding Genetic Variance And Phenotype Expression
89(6)
B The GETT Checklist
95(6)
C Using Evidence To Inform Clinical And Policy Decisions
101(10)
References 111(20)
Glossary 131