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Cover of The Value of Genetic and Genomic Technologies

The Value of Genetic and Genomic Technologies

Workshop Summary


Washington (DC): National Academies Press (US); .
ISBN-13: 978-0-309-15771-1ISBN-10: 0-309-15771-4


On March 22, 2010, the roundtable (Institute of Medicine's Roundtable on Translating Genomic-Based Research for Health) convened a public workshop to examine the perceived value of genetic and genomic technologies, both present and future, in clinical practice from the perspectives of different stakeholders.1 The workshop was designed to build on the concepts of analytical validity, clinical validity, and clinical utility (Box 1-1) as well as the concepts of personal utility, public utility, and economic value, and to explore these concepts through questions such as:

  • How do different stakeholders define the value of genetic and genomic technologies?
  • How do stakeholders prioritize various aspects of genetic tests when determining value?
  • How do people assess the relative value of genetic tests when making personal health care decisions?
  • How do these types of value relate, or not relate, to the monetary cost of the technologies?

To facilitate discussion of the concepts, three specific case examples of genetic/genomic tests currently in use were presented, representing a range of different applications and spanning a range of opinions regarding their value: genetic testing for Lynch syndrome in colorectal cancer patients; pharmacogenomic testing for warfarin dosing; and genomic profiling. Following the reactions of the expert panel to each scenario, there was open discussion with stakeholders, including patients, clinicians, payers, policy makers, and other workshop participants. The discussion was intended to focus not on the value of the specific treatment or test presented, but rather on the broader issues of how each individual stakeholder derives his or her personal or professional opinion of the value of using the technology.

Chapters 2 through 4 of this report summarize the discussions of each clinical scenario by the expert panelists and provide highlights of the open discussions. Closing remarks are provided in chapter 5. The three case studies are presented in full in the appendixes, along with the workshop agenda and biographical sketches of the panelists.


Rapporteurs: Theresa Wizemann and Adam C Berger

This project was supported by contracts between the National Academy of Sciences and the American College of Medical Genetics (unnumbered contract); American Medical Association (unnumbered contract); American Nurses Association (unnumbered contract); Blue Cross and Blue Shield Association (unnumbered contract); Centers for Disease Control and Prevention (Contract No. 200-2005-13434); College of American Pathologists (unnumbered contract); Department of Veterans Affairs (Contract No. V101(93) P-2238); Eli Lilly and Company (Contract No. LRL-0028-07); Genetic Alliance (unnumbered contract); Genomic Health, Inc. (unnumbered contract); Health Resources and Services Administration; Johnson & Johnson (unnumbered contract); Kaiser Permanente (unnumbered contract); National Cancer Institute (Contract No. N01-OD-4-2139, TO#189); National Heart, Lung, and Blood Institute (Contract No. N01-OD-4-2139, TO#189); National Human Genome Research Institute (Contract No. N01-OD-4-2139, TO#189); National Institute of Child Health and Human Development (Contract No. N01-OD-4-2139, TO#189); National Society of Genetic Counselors (unnumbered contract); Pfizer Inc. (Contract No. 140-N-1818071); and the Secretary’s Advisory Committee on Genetics, Health, and Society (Contract No. N01-OD-4-2139, TO#189).

Suggested citation:

IOM (Institute of Medicine). 2010. The value of genetic and genomic technologies: Workshop summary. Washington, DC: The National Academies Press.

Any opinions, findings, conclusions, or recommendations expressed in this publication are those of the author(s) and do not necessarily reflect the views of the organizations or agencies that provided support for the project.

NOTICE: The project that is the subject of this report was approved by the Governing Board of the National Research Council, whose members are drawn from the councils of the National Academy of Sciences, the National Academy of Engineering, and the Institute of Medicine.

Copyright © 2010, National Academy of Sciences.
Bookshelf ID: NBK52756PMID: 21391344
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