Genomics: Implications for Health Systems / the Effect of Genomics on Health Services Management: Ethical and Legal Perspectives / Commentaries / Replies (2001)

SUMMARY - IN ANTICIPA TION of and following the announcement of the completion of the mapping of the human genome, numerous articles have appeared in scientific, industry, and consumer journals and magazines on the topic of genomics. Building off the excitement surrounding this scientific milestone, many of these articles-irrespective of the audience-look to the future and anticipate how this knowledge breakthrough will change the way classes of diseases are diagnosed, treated, and even prevented over the next several generations. However, literature that explores the potential effect of genomics on health system care delivery is virtually nonexistent. As such, this article begins to prepare health system executives for the future by speculating how genomics may affect their organizations and suggesting strategies for future success. GENOMICS: THE PAST, PRESENT, AND FUTURE Until very recently, speculation about genes and how they work was little more than science fiction. Fifty years ago, scientists made the discovery that DNA was the source of heredity. They soon realized, however, that this was only one piece of a complicated puzzle. As scientists learned more about how DNA was encoded and duplicated, they began to understand that a key part of finding applications for this information was determining how the instructions contained in DNA are carried out. Genes were found to code for proteins, many of which are essential for basic biological functions. From this observation came a discovery that remains the basis for all gene-based therapies: changes or mutations in genes are associated with many types of disease. To use this information therapeutically, however, scientists needed to learn how to work with DNA. In the late 1960s and early 1970s, scientists made their first attempts at creating, changing, and interpreting DNA sequences in the lab. By the early 1980s, finding, removing, copying, and producing proteins from pieces of DNA sequences had become routine. This so-called recombinant DNA technology also enabled scientists to synthetically manufacture a protein once the sequence of its corresponding gene was known. The promise that synthetic proteins, gene testing, and the stilldeveloping field of gene therapy held for clinical applications prompted the foundation of the Human Genome Project (a nonprofit international research consortium) around 1990. The ultimate goal of the Project-and the goal of an analogous mapping effort led by Celera Genomics-is to identify all human genes and determine what they do, thus creating an immensely powerful toolbox for researchers and clinicians. In June of 2000, the first of the Projects goalscompletion of a working draft of the human genome sequence-was met. Although this milestone will provide invaluable information about the similarity of our 50,000 to 100,000 genes to those of other well-studied species, the full potential of this information will not be realized until the functions of the genes revealed by completion of the sequence have been determined. Nevertheless, once this process is complete, the wealth of new targets for drugs and therapies provided by the Human Genome Project is expected to transform healthcare delivery. Already, several genomics-based therapies are in regular clinical use. Others, like gene therapy, are still in various stages of testing and may not be available for several years. All, however, have the potential to revolutionize how providers diagnose, treat, and prevent a wide range of diseases. Gene Testing Applications Once genomics provides scientists with the sequence of a gene and the knowledge that it is associated with a disease, gene testing can reveal whether the gene is present in a patients genome. DNA is isolated from a blood sample and tested for a reaction with a specially labeled probe that contains the sequence of the gene for which the patient is being tested. …