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1 Introduction New genomic discoveries and technologies are shifting the focus from testing for specific and rare genetic disorders to using genetic testing to pre- dict risk of common diseases and help determine prevention and treatment options. Advances in genetics are contributing to improved understanding of the genetic and molecular basis of disease and are increasingly lead- ing to the development of interventions such as gene-based therapy and pharmacogenomics. The integration of advances from genetics into the health care system is marked by three major trends. First, information previously handled by medical geneticists and a few specialists is moving into the arena of other medical specialties and primary care. As this transition is made, it will be necessary to deal with associated barriers and challenges. Second, genetic information that has historically been used as an end point will increasingly have the potential to be used to improve health care outcomes. Such a shift requires providers and patients to think about using genetic information in a different way, one more similar to how other health care data are used. Finally, there is a shift from dealing with a limited amount of information to being confronted with a great deal of information. In the past, there may â âGenomicsâ is the study of the entire human genomeâthe actions of single genes and the interactions of multiple genes with each other and with the environment, whereas âgeneticsâ is the study of single genes and their functions and effects (IOM, 2003a). However, presenters did not agree in advance to these definitions, so not every presenter refers to these terms in the same way.
INNOVATIONS IN SERVICE DELIVERY IN THE AGE OF GENOMICS have been concern about what was unknown; now the concern is about managing the information that is available. The current system for delivering genetic services is based on a model of intensive counseling for rare diseases. As the use of genomic technology becomes more prevalent, providers and patients will need new ways of com- municating about genetic information and how it may change health care options. Old practice models that rely on extensive education and counsel- ing may not be suitable when patients and payers demand the inclusion of genomic information in making everyday health care decisions. New practice models of service delivery will have to be developed to contend with the rising tide of genomic innovations. The Roundtable on Translating Genomic-Based Research for Health was established by the Institute of Medicine (IOM) in 2007 to provide a structured opportunity for dialogue and discussion of issues related to the translation of genomic information for use in maintaining and improving health. At its second meeting, following a workshop that focused on the diffusion of genomic innovations, the Roundtable identified the need for a public workshop that would feature presentations and discussion of strate- gies regarding service delivery in the age of genomics, seeking to understand the current status of service delivery, how needs will change as genomic innovation progresses, and what types of alternative practice models will be needed. The July 28, 2008, workshop was moderated by Wylie Burke, chair of the Roundtable. Presentations followed by discussion occurred in four areas: the current status of genetic service delivery, strengths and challenges of the current system, new models for service delivery, and a vision for the future. Following these presentations, a panel of workshop speakers and participants brainstormed about a service delivery model for the future. The workshop did not address the ethical or legal considerations surrounding genomic innovations and the various new models of service delivery, includ- ing direct-to-consumer marketing of genetic tests. The meeting concluded with a summary of the dayâs discussions. The complete agenda can be found in Appendix A, and biographical sketches of the speakers are provided 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 the pre- senters and participants.