1
Introduction1

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. Until fairly recently, genetic information was used primarily in the diagnosis of relatively rare genetic diseases, such as cystic fibrosis and Huntington’s Disease, but a transformation in the use of genetic and genomic information is under way.

Genetic markers of increased risk for such chronic diseases as diabetes and coronary artery disease have been identified. Research on how genes influence the effects of drugs holds promise for helping physicians individualize drug therapy. Tests designed to help providers make treatment decisions based on variations in a patient’s genome are being developed. The Department of Health and Human Services has launched a Personalized Health Care Initiative, one goal of which is to “link clinical and genomic information to support personalized health care”2 (DHHS, 2007). It is anticipated that “genetic prediction of individual risks of disease and responsiveness to drugs will reach the medical mainstream in the next decade or so” (Collins and McKusick, 2001). To date, however, few of these promising discoveries have resulted in actual applications in medicine and health (Burke et al., 2006).

1

The planning committee’s role was limited to planning the workshop, and the workshop summary has been prepared by the workshop rapporteur as a factual summary of what occurred at the workshop.

2

Personalized health care, as defined by the Department of Health and Human Services, refers to medical practices that are targeted at individuals based on their specific genetic code in order to provide a tailored approach (www.hhs.gov/myhealthcare/glossary/glossary.html).



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1 Introduction 1 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. Until fairly recently, genetic information was used primarily in the diagnosis of relatively rare genetic dis- eases, such as cystic fibrosis and Huntington’s Disease, but a transformation in the use of genetic and genomic information is under way. Genetic markers of increased risk for such chronic diseases as diabetes and coronary artery disease have been identified. Research on how genes influence the effects of drugs holds promise for helping physicians indi- vidualize drug therapy. Tests designed to help providers make treatment decisions based on variations in a patient’s genome are being developed. The Department of Health and Human Services has launched a Person- alized Health Care Initiative, one goal of which is to “link clinical and genomic information to support personalized health care”2 (DHHS, 2007). It is anticipated that “genetic prediction of individual risks of disease and responsiveness to drugs will reach the medical mainstream in the next decade or so” (Collins and McKusick, 2001). To date, however, few of these promising discoveries have resulted in actual applications in medicine and health (Burke et al., 2006). 1 The planning committee’s role was limited to planning the workshop, and the workshop summary has been prepared by the workshop rapporteur as a factual summary of what occurred at the workshop. 2 Personalized health care, as defined by the Department of Health and Human Services, refers to medical practices that are targeted at individuals based on their specific genetic code in order to provide a tailored approach (www.hhs.gov/myhealthcare/glossary/glossary.html). 

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 DIFFUSION AND USE OF GENOMIC INNOVATIONS In 2007 the Institute of Medicine established the Roundtable on Trans- lating Genomic-Based Research for Health. The purpose of the Roundtable is to foster dialogue and discussion that will advance the field of genomics and improve the translation of research findings to health care, public health, and health policy. As a first step in examining issues of translation of genomic innovations, the Roundtable decided to hold a workshop to gather information on three questions below. Information obtained from the workshop was then used to further discussion and exploration of the answers to these questions: 1. Are there different pathways by which new scientific findings move from the research setting into health care? 2. If so, what are the implications of those different pathways for genomics? 3. What can we learn from the translation of other new technologies as we seek to understand the translation of genome science into health care? The December 4, 2007, workshop was moderated by Wylie Burke, chair of the Roundtable, and consisted of panel presentations in four areas: the process of translation of innovations, practical incentives and barriers to translation, translation of genomic technology at the clinical level, and opportunities and constraints for translation both within the United States and globally. A discussion period followed each panel. At the conclusion of the meeting Burke offered a summary of the day’s presentations. While vari- ous types of genomic innovation were discussed, a number of presentations focused primarily on genomic testing technologies. The complete agenda can be found in Appendix A, and biographical sketches of the speakers are in Appendix B. The following report summarizes speaker presentations and discus- sions. Any conclusions reported should not be construed as reflecting a group consensus, rather they are the statements and opinions of presenters and participants.