National Academies Press: OpenBook

An Evidence Framework for Genetic Testing (2017)

Chapter: Front Matter

Suggested Citation:"Front Matter." National Academies of Sciences, Engineering, and Medicine. 2017. An Evidence Framework for Genetic Testing. Washington, DC: The National Academies Press. doi: 10.17226/24632.
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AN EVIDENCE
FRAMEWORK FOR
GENETIC TESTING

Committee on the Evidence Base for Genetic Testing

Board on the Health of Select Populations

Board on Health Care Services

Health and Medicine Division

A Report of

images

THE NATIONAL ACADEMIES PRESS
Washington, DC
www.nap.edu

Suggested Citation:"Front Matter." National Academies of Sciences, Engineering, and Medicine. 2017. An Evidence Framework for Genetic Testing. Washington, DC: The National Academies Press. doi: 10.17226/24632.
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THE NATIONAL ACADEMIES PRESS500 Fifth Street NWWashington, DC 20001

This activity was supported by Contract No. HHSP233201400020B between the National Academy of Sciences and the Department of Defense. Any opinions, findings, conclusions, or recommendations expressed in this publication do not necessarily reflect the views of any organization or agency that provided support for the project.

International Standard Book Number-13: 978-0-309-45329-5
International Standard Book Number-10: 0-309-45329-1
Digital Object Identifier: 10.17226/24632

Additional copies of this publication are available for sale from the National Academies Press, 500 Fifth Street NW, Keck 360, Washington, DC 20001; (800) 624-6242 or (202) 334-3313; http://www.nap.edu.

Copyright 2017 by the National Academy of Sciences. All rights reserved.

Printed in the United States of America

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.

Suggested Citation:"Front Matter." National Academies of Sciences, Engineering, and Medicine. 2017. An Evidence Framework for Genetic Testing. Washington, DC: The National Academies Press. doi: 10.17226/24632.
×

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The National Academy of Sciences was established in 1863 by an Act of Congress, signed by President Lincoln, as a private, nongovernment institution to advise the nation on issues related to science and technology. Members are elected by their peers for outstanding contributions to research. Dr. Marcia McNutt is president.

The National Academy of Engineering was established in 1964 under the charter of the National Academy of Sciences to bring the practices of engineering to advising the nation. Members are elected by their peers for extraordinary contributions to engineering. Dr. C. D. Mote, Jr., is president.

The National Academy of Medicine (formerly the Institute of Medicine) was established in 1970 under the charter of the National Academy of Sciences to advise the nation on medical and health issues. Members are elected by their peers for distinguished contributions to medicine and health. Dr. Victor J. Dzau is president.

The three Academies work together as the National Academies of Sciences, Engineering, and Medicine to provide independent, objective analysis and advice to the nation and conduct other activities to solve complex problems and inform public-policy decisions. The National Academies also encourage education and research, recognize outstanding contributions to knowledge, and increase public understanding in matters of science, engineering, and medicine.

Learn more about the National Academies of Sciences, Engineering, and Medicine at www.national-academies.org.

Suggested Citation:"Front Matter." National Academies of Sciences, Engineering, and Medicine. 2017. An Evidence Framework for Genetic Testing. Washington, DC: The National Academies Press. doi: 10.17226/24632.
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Reports document the evidence-based consensus of an authoring committee of experts. Reports typically include findings, conclusions, and recommendations based on information gathered by the committee and committee deliberations. Reports are peer reviewed and are approved by the National Academies of Sciences, Engineering, and Medicine.

Proceedings chronicle the presentations and discussions at a workshop, symposium, or other convening event. The statements and opinions contained in proceedings are those of the participants and have not been endorsed by other participants, the planning committee, or the National Academies of Sciences, Engineering, and Medicine.

For information about other products and activities of the National Academies, please visit nationalacademies.org/whatwedo.

Suggested Citation:"Front Matter." National Academies of Sciences, Engineering, and Medicine. 2017. An Evidence Framework for Genetic Testing. Washington, DC: The National Academies Press. doi: 10.17226/24632.
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COMMITTEE ON THE EVIDENCE BASE FOR GENETIC TESTING

ALFRED O. BERG (Chair), Professor and Chair Emeritus, Department of Family Medicine, University of Washington School of Medicine

JONATHAN S. BERG, Associate Professor, Department of Genetics, University of North Carolina at Chapel Hill

CHESTER W. BROWN, Professor and Division Chief of Genetics, Department of Pediatrics, University of Tennessee Health Science Center

WYLIE BURKE, Professor, Department of Bioethics and Humanities, University of Washington

BRUCE N. CALONGE, President and CEO, The Colorado Trust

WENDY K. CHUNG, Kennedy Family Associate Professor of Pediatrics and Medicine, Department of Pediatrics, Columbia University

THOMAS W. CLINE, Professor Emeritus, Department of Molecular and Cell Biology, University of California, Berkeley

SEAN P. DAVID, Associate Professor of Medicine, Division of Primary Care and Population Health, Stanford University School of Medicine

JUDY E. GARBER, Director, Center for Cancer Genetics and Prevention, Dana-Farber Cancer Institute, and Professor of Medicine, Harvard Medical School

ROBERT C. GREEN, Associate Professor of Medicine, Division of Genetics, Brigham and Women’s Hospital, Broad Institute and Harvard Medical School

JULIAN A. MARTINEZ-AGOSTO, Associate Professor, Department of Human Genetics, Division of Medical Genetics, David Geffen School of Medicine, University of California, Los Angeles

MARGARET A. PIPER, Senior Medical Research Analyst, Genetic Test Evaluation Program, Hayes, Inc.

NEIL J. RISCH, Lamond Family Foundation Distinguished Professor in Human Genetics and Director, Institute for Human Genetics, University of California, San Francisco

J. SANFORD SCHWARTZ, Leon Hess Professor of Medicine, Health Management and Economics, Perelman School of Medicine and Wharton School of Business, University of Pennsylvania

DAVID VALLE, Henry J. Knott Professor and Director, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine

DAVID L. VEENSTRA, Professor, Pharmaceutical Outcomes Research and Policy Program, Department of Pharmacy, University of Washington

NANCY S. WEXLER, President, Hereditary Disease Foundation, and Higgins Professor of Neuropsychology, College of Physicians and Surgeons, Columbia University

Study Staff

CAROLYN FULCO, Scholar

CARY HAVER, Program Officer

SARAH BEACHY, Senior Program Officer

JOSEPH GOODMAN, Senior Project Assistant

Editor

NORMAN GROSSBLATT

Suggested Citation:"Front Matter." National Academies of Sciences, Engineering, and Medicine. 2017. An Evidence Framework for Genetic Testing. Washington, DC: The National Academies Press. doi: 10.17226/24632.
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Suggested Citation:"Front Matter." National Academies of Sciences, Engineering, and Medicine. 2017. An Evidence Framework for Genetic Testing. Washington, DC: The National Academies Press. doi: 10.17226/24632.
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REVIEWERS

This report has been reviewed in draft form by persons chosen for their diverse perspectives and technical expertise. The purpose of the independent review is to provide candid and critical comments that will assist the institution in making its published report as sound as possible and to ensure that the report meets institutional standards of objectivity, evidence, and responsiveness to the study charge. The review comments and draft manuscript remain confidential to protect the integrity of the deliberative process. We thank the following individuals for their review of the report:

Jose Fernandez, University of Alabama at Birmingham

Bruce Gelb, Icahn School of Medicine at Mount Sinai

Stephen Gruber, University of Southern California

Mehdi Hatamian, 2Pi-Sigma Corporation

Barbara A. Koenig, University of California, San Francisco

Edward R McCabe, March of Dimes Birth Defects Foundation

Hope Northrup, University of Texas Health Sciences Center

Susan P. Pauker, Harvard Medical School

Aleksander Rajkovic, Magee-Womens Research Institute

Stephen S. Rich, University of Virginia

Sean Tunis, Center for Medical Technology and Policy

Janet Williams, University of Iowa

Although the reviewers listed above have provided many constructive comments and suggestions, they were not asked to endorse the conclusions or recommendations, nor did they see the final draft of the report before its release. The review of the report was overseen by Harold C. Sox, Patient-Centered Outcomes Research Institute, and Maxine Hayes, University of Washington. They were responsible for making certain that an independent examination of the report was carried out in accordance with institutional procedures and that all review comments were carefully considered. Responsibility for the final content of the report rests entirely with the authoring committee and the institution.

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Suggested Citation:"Front Matter." National Academies of Sciences, Engineering, and Medicine. 2017. An Evidence Framework for Genetic Testing. Washington, DC: The National Academies Press. doi: 10.17226/24632.
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Suggested Citation:"Front Matter." National Academies of Sciences, Engineering, and Medicine. 2017. An Evidence Framework for Genetic Testing. Washington, DC: The National Academies Press. doi: 10.17226/24632.
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Suggested Citation:"Front Matter." National Academies of Sciences, Engineering, and Medicine. 2017. An Evidence Framework for Genetic Testing. Washington, DC: The National Academies Press. doi: 10.17226/24632.
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ACRONYMS AND ABBREVIATIONS

ACA Patient Protection and Affordable Care Act
ACCE analytic validity, clinical validity, clinical utility, and associated ethical, legal, and social implications
ACMG American College of Medical Genetics and Genomics
AHRQ Agency for Healthcare Research and Quality
ASCO American Society of Clinical Oncology
CAP College of American Pathologists
CDC Centers for Disease Control and Prevention
CED coverage with evidence development
CFTR cystic fibrosis transmembrane conductance regulator
CLIA Clinical Laboratory Improvement Amendments
CMS Centers for Medicare & Medicaid Services
CNV copy number variant
CPG Clinical Practice Guideline
CPIC Clinical Pharmacogenetics Implementation Consortium
CU clinical utility
CV clinical validity
DHA Defense Health Agency
DNA deoxyribonucleic acid
DoD Department of Defense
EGAPP Evaluation of Genomic Applications in Practice and Prevention
ELSI ethical, legal, and social implications
EPC Evidence-Based Practice Center
EWG EGAPP Working Group
FDA Food and Drug Administration
GETT Genetic testing Evidence Tracking Tool
GINA Genetic Information Nondiscrimination Act
GRADE Grading of Recommendations Assessment, Development and Evaluation
GTR Genetic Testing Registry
Suggested Citation:"Front Matter." National Academies of Sciences, Engineering, and Medicine. 2017. An Evidence Framework for Genetic Testing. Washington, DC: The National Academies Press. doi: 10.17226/24632.
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LDT laboratory-developed test
MAF minor allele frequency
MHS Military Health System
NBS newborn screening
NF1 neurofibromatosis, type 1
NGC National Guideline Clearinghouse
NGS next-generation sequencing
NIH National Institutes of Health
NSGC National Society of Genetic Counselors
OMIM Online Mendelian Inheritance in Man
PCORI Patient-Centered Outcomes Research Institute
RCT randomized controlled trial
RNA ribonucleic acid
SNP single nucleotide polymorphism
SNV single nucleotide variant
USPSTF US Preventive Services Task Force
VUS variant of uncertain significance
WES whole-exome sequencing
WGS whole-genome sequencing
Suggested Citation:"Front Matter." National Academies of Sciences, Engineering, and Medicine. 2017. An Evidence Framework for Genetic Testing. Washington, DC: The National Academies Press. doi: 10.17226/24632.
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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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