Progress, and Applications
of the Human Genome Project
Sponsored by the U.S. Department of Energy Human Genome Program
Human Genome News Archive Edition
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1997 Santa Fe Highlights
In the News
Book Focuses on Biomarker Implications
Biomarkers: Medical and Workplace Applications (Joseph Henry Press, National Academy of Sciences, May 1998) is the outgrowth of an international meeting called "Biomarkers, the Genome and the Individual: Workplace and Medical Implications of a Rapidly Evolving Technology." Held in May 1997 in Charleston, South Carolina, the DOE-sponsored meeting was organized by the Medical University of South Carolina (MUSC).
The book, also supported by a DOE grant, offers a comprehensive review of the biomarker field through a sampling of 33 talks from the Charleston meeting. It focuses on the use of biomarkers to estimate prior exposures, identify genomic changes, and evaluate underlying susceptibilities in humans. The book was edited by Mort Mendelsohn (Lawrence Livermore National Laboratory), John Peeters (DOE Office of Occupational Medicine), and Lawrence Mohr (MUSC). [Contact for book: National Academy Press (800/624-6242 or 202/334-3313, Fax: -2451)]
The meeting's main focus was the broad and challenging frontier of newly developing and increasingly sophisticated biomarkers. Until recently, biomarkers involved conventional applications of biochemistry and molecular biology to medical and toxicological situations. The new paradigm beginning to attract attention is the enormous effect of biomarker information expected to emerge from the Human Genome Project as less expensive, more accurate methods to assess DNA changes become available.
Opened with a keynote address by geneticist and Nobel laureate Joshua Lederberg (Rockefeller University), the meeting addressed the following broad subjects: (1) biomarkers for assessing prior exposures; (2) sentinel applications; (3) ethical issues and benefits of worker testing; and (4) genomics, including new technologies and biomarkers of genetic susceptibility.
Leading the speakers on genomics and new technologies, Leroy Hood (University of Washington) stated that investigators were facing a sea change in biomarker use and that the deluge of knowledge and new technologies had started already. He predicted that scientists soon will be capable of using biomarkers on a wide scale, identifying for example pharmaceutical or occupational variabilities and creating an entirely new approach to preventive medicine. David Cox (Stanford University School of Medicine) discussed the magnitude of human polymorphisms and gave an optimistic prediction that the number of markers needed to characterize people will prove surprisingly finite. Technology development was emphasized by Robert Lipshutz (Affymetrix), who spoke about the high-density DNA chip; and J. Michael Ramsey (Oak Ridge National Laboratory), who summarized the "lab-on-a-chip" approach.
Most presentations focused on current developments in biomarker research or testing, especially new biomarkers and those with recently improved validation. A new biomarker with great promise is the Clara cell protein biomarker (CC16) for pulmonary toxicity, presented by Alfred Bernard (National Fund for Scientific Research) and his colleagues from Belgium. Two presentations on electron spin resonance (ESR) technology for measuring prior exposure to radiation showed remarkable improvements and the encouraging strong correlation between tooth enamel ESR and stable chromosome aberrations in individual Japanese atomic bomb survivors.
Extensive discussions centered on the ethical and social issues of using biomarker technology to test for genetic susceptibility. A highlight was a second presentation by Cox in which he summarized the ethical aspects of genomics as accentuated by the Human Genome Project. Another highlight was a discussion of the courts' perspective on these issues as presented by two sitting judges (one federal and one state). The discussion was moderated by Franklin Zweig (Einstein Institute for Science, Health, and the Courts). No attempt was made to reach closure on the ethical issues; rather, the goal was to sensitize the audience to their importance. This field is moving so rapidly that ethical and technological issues must be reconciled soon.
Despite the huge potential of the technology, attendees felt that several highly tangible demonstrations of biomarkers' predictive power and potential value will be needed to motivate society to create a truly constructive approach for applying these methods. A current example may be beryllium toxicity, for which a hypersensitivity genetic marker has been identified. Rather than test directly in the workplace in such situations, a reasonable alternative is to offer workers a chance to be tested by a third party so they can make informed decisions about medical risk without endangering employment.
More than 400 people attended the Charleston biomarkers meeting, which brought together geneticists and other scientists, physicians, ethicists, industrialists, government workers, attorneys, and members of the public to discuss the science and societal implications associated with the use of this emerging technology. Meeting organizers made a significant effort to involve the genomics community and to enhance connections with the occupational medicine and worker communities.
A report summarizing the state of biomarker technology and its possible applications for DOE workers is expected later in 1998. Another book, Biomarkers and Occupational Health: Progress and Perspectives (1995), edited by Mendelsohn, Peeters, and Mary Janet Normandy (DOE Office of Occupational Medicine), resulted from a previous DOE-sponsored biomarker meeting held in 1994 in Santa Fe, New Mexico. [See HGN 6(3), 8-9 for 1994 meeting report.] [Mort Mendelsohn (email@example.com), John P. Peeters (firstname.lastname@example.org), and Betty Mansfield (email@example.com)]
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