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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.

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Suggested Citation

National Academies of Sciences, Engineering, and Medicine. 2017. An Evidence Framework for Genetic Testing. Washington, DC: The National Academies Press. https://doi.org/10.17226/24632.

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Publication Info

148 pages |  8.5 x 11 | 

ISBNs: 
  • Paperback:  978-0-309-45329-5
  • Ebook:  978-0-309-45332-5
DOI: https://doi.org/10.17226/24632
Chapters skim
Front Matter i-xii
Summary 1-12
1 Introduction 13-18
2 Genetic Testing 19-34
3 Genetic Test Assessment 35-58
4 Evidence 59-78
5 An Evidence Framework for Genetic Testi 79-88
Appendix A: Understanding Genetic Variance and Phenotype Expression 89-94
Appendix B: The GETT Checklist 95-100
Appendix C: Using Evidence to Inform Clinical and Policy Decisions 101-110
References 111-130
Glossary 131-136

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