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Suggested Citation:"1 Introduction." Institute of Medicine. 2009. Systems for Research and Evaluation for Translating Genome-Based Discoveries for Health: Workshop Summary. Washington, DC: The National Academies Press. doi: 10.17226/12691.
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Page 1
Suggested Citation:"1 Introduction." Institute of Medicine. 2009. Systems for Research and Evaluation for Translating Genome-Based Discoveries for Health: Workshop Summary. Washington, DC: The National Academies Press. doi: 10.17226/12691.
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Page 2

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1 Introduction The sequencing of the human genome has generated excitement about the potential of genomic innovations to improve medical care, preventive and community health services, and public health. (IOM, 2008) How variations in genes contribute to variations in disease risk has been a subject of study for more than 100 years (IOM, 2006). Until fairly recently research focused on single genes that give rise to rare genetic dis- eases such as cystic fibrosis or Huntington’s disease. With the advent of genome-wide association (GWA) studies, however, numerous associations between specific gene loci and complex diseases have been identified, for example for breast cancer, type II diabetes, coronary artery disease, asthma, and bipolar disorder (Goldstein, 2009; Hardy and Singleton, 2009; Smith and Lusis, 2009). This rapidly advancing field of genomics has stirred great interest in “personalized” health care from both the public and private sectors. The hope is that using genomic information in clinical care will lead to reduced health care costs and improved health outcomes as therapies are tailored to the genetic susceptibilities of patients. A variety of genetically based health care innovations have already reached the marketplace, but information about the clinical use of these treatments and diagnostics is limited. While GWA studies provide information about an association between a gene and a trait or disease, these data do not provide information about how a genomic test or other innovation impacts clinical care and patient health outcomes—other approaches are needed to garner such information. The Institute of Medicine’s Roundtable on Translating Genomic-Based 

 SYSTEMS FOR RESEARCH AND EVALUATION Research for Health identified a need for a workshop to examine existing systems that could be adapted to evaluate the clinical use and impact of genetically based innovations in patient care. Established in 2007, the Roundtable seeks to foster dialogue and partnerships that will advance the field of genomics and improve the translation of basic genomic research to health care, education, and health policy. On February 12, 2009, the Roundtable convened a workshop designed to address four central ques- tions related to the development of systems to evaluate clinical use of health care innovations that stem from genome-based research: • What are the practical realities of creating such systems? • What different models could be used? • What are the strengths and weaknesses of each model? •  ow effectively can such systems address questions about health H outcomes? The following chapters summarize the presentations by the expert panelists, and the open discussions moderated by Roundtable Chair Wylie Burke. Chapter 2 provides an overview describing how the evidence needed for decision making may vary according to the particular application of the genome-based intervention. Chapters 3 through 5 summarize the three panel sessions: creating evidence systems; current practices in moving from evidence to decision; and gaps in the system for evaluation of genome- based health care. Closing remarks are provided in Chapter 6, and the workshop agenda and biographical sketches of the panelists are available in the appendixes.  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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With the advent of genome-wide association studies, numerous associations between specific gene loci and complex diseases have been identified--for breast cancer, coronary artery disease, and asthma, for example. This rapidly advancing field of genomics has stirred great interest in "personalized" health care from both the public and private sectors. The hope is that using genomic information in clinical care will lead to reduced health care costs and improved health outcomes as therapies are tailored to the genetic susceptibilities of patients.

A variety of genetically based health care innovations have already reached the marketplace, but information about the clinical use of these treatments and diagnostics is limited. Currently data do not provide information about how a genomic test impacts clinical care and patient health outcomes--other approaches are needed to garner such information.

This volume summarizes a workshop to address central questions related to the development of systems to evaluate clinical use of health care innovations that stem from genome-based research:

What are the practical realities of creating such systems?

What different models could be used?

What are the strengths and weaknesses of each model?

How effectively can such systems address questions about health outcomes?

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