The commercialization of clinical genetic technologies: A technology assessment using fluorescence in situ hybridization as the genetic lens.

摘要

The speed of technological advances in the biomedical sciences is unparalleled in scientific history and has significantly influenced the practice of clinical genetics. Historically, genetic research and genetic testing took place in an academic medical setting. However, this trend has recently changed as genetic testing services move from academic medical centers to commercial laboratories. Furthermore, this trend will increase as the Human Genome Project continues its work and the biotechnology industry begins aggressively to market test kits, diagnostic products, and services.; This study examines the events and policies that shaped the roles played by U.S. universities and academic medical centers, the federal government, and industry in the research, development, and commercialization of clinical diagnostic genetic technologies. Using the technology assessment perspective, this study views each of the institutions as an entry point in to the commercialization process and allows for an examination of the strengths and weaknesses of the process. In addition, a qualitative framework is applied to this study to present a case study of fluorescence in situ hybridization (FISH) as a means of describing and documenting the commercialization process of genetic technologies. FISH was examined within the context of federal policies that were developed to foster technology transfer. Furthermore, the analysis of the scientific and medical literature and the interviews indicate that FISH revolutionized the field of cytogenetics, but not without controversy.; The combination of the literature review and interviews was important in compiling a complete history of the scientific, medical, health policy, financial, political and social issues of this clinical genetic service. The findings indicate that academia, government, and industry continue to have a pivotal role in the commercialization of FISH technology, and in genetic technologies. Furthermore, as a new clinical diagnostic genetic technology, FISH highlighted the strengths and weaknesses of the commercialization process and of the three institutions involved. The expected proliferation of genetic tests demands sound and well-balanced genetic testing policies. It is critical to the nation's health that the public not be put at risk through premature utilization of tests. The policy recommendations offered in this study contribute to the ongoing and increasingly important discussion of the role of academia, industry, and government in the development, implementation and utilization of clinical genetic technologies.