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Introduction

Slight variations in genetic composition can contribute greatly to the diversity which we see amongst individuals, from determining eye color and height to increasing the risk of developing breast cancer or heart disease. Numerous gene–disease associations are now known, and genetic/genomic testing is a relatively common laboratory approach for diagnosing presymptomatic genetic disorders, confirming an expressed genetic disease, screening for markers of increased risk of disease, or determining if someone is an asymptomatic heterozygous carrier of a recessive disease. Genetic or genomic testing can be used to guide medical decision-making and treatment, ranging from personalized drug therapy to assessing an individual’s risk of developing common chronic diseases. However, these new technologies have not been widely integrated into clinical practice and the question remains as to how these advances are valued in the health care setting.

The Institute of Medicine’s Roundtable on Translating Genomic-Based Research for Health was established in 2007 to foster dialogue and partnerships that will advance the field of genomics and improve the translation of basic genomic research to applications in health care, education, and health policy. Wylie Burke of the University of Washington, and chair of this roundtable, said that the discussions have brought to light some of the very diverse perspectives regarding which genomic applications will be potentially useful in practice as well as what represents compelling evidence to bring an application into the healthcare setting. A need was identified for a workshop to explore the concept of value in regards to genomics and genetics and how that concept affects the views of stakeholders and the ways they make decisions about using these tests and technologies.



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1 Introduction Slight variations in genetic composition can contribute greatly to the diversity which we see amongst individuals, from determining eye color and height to increasing the risk of developing breast cancer or heart disease. Numerous gene–disease associations are now known, and genetic/genomic testing is a relatively common laboratory approach for diagnosing presymp- tomatic genetic disorders, confirming an expressed genetic disease, screen- ing for markers of increased risk of disease, or determining if someone is an asymptomatic heterozygous carrier of a recessive disease. Genetic or genomic testing can be used to guide medical decision-making and treat- ment, ranging from personalized drug therapy to assessing an individual’s risk of developing common chronic diseases. However, these new technolo- gies have not been widely integrated into clinical practice and the question remains as to how these advances are valued in the health care setting. The Institute of Medicine’s Roundtable on Translating Genomic-Based Research for Health was established in 2007 to foster dialogue and partner- ships that will advance the field of genomics and improve the translation of basic genomic research to applications in health care, education, and health policy. Wylie Burke of the University of Washington, and chair of this roundtable, said that the discussions have brought to light some of the very diverse perspectives regarding which genomic applications will be potentially useful in practice as well as what represents compelling evidence to bring an application into the healthcare setting. A need was identified for a workshop to explore the concept of value in regards to genomics and genetics and how that concept affects the views of stakeholders and the ways they make decisions about using these tests and technologies. 

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 ThE VALuE Of GENETIC AND GENOMIC TEChNOLOGIES BOX 1-1 Definitions Analytic validity The accuracy and reliability of the test in detecting the genetic changes of interest. Clinical validity The accuracy and reliability of the test in identifying patients with the disorder of interest. Clinical utility The possibility that the test will lead to improved health. Diagnostic test A test to confirm a specific condition. Prognostic test A test which predicts the possibility of developing a specific condition. On March 22, 2010, the roundtable 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 mak- ing 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; 1 The planning committee’s role was limited to planning the workshop. This workshop summary has been prepared by a rapporteur as a factual summary of what occurred at the workshop. Statements and opinions are those of individual presenters and participants and should not be construed as reflecting any group consensus.

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 INTRODuCTION pharmacogenomic testing for warfarin dosing; and genomic profiling. Fol- lowing 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 stud- ies are presented in full in the appendixes, along with the workshop agenda and biographical sketches of the panelists.

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