Richard Wooster on cancer and the Human Genome Project (interview by Ezzie Hutchinson).
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UNLABELLED: MICROSATELLITE ANALYSIS: By using serological or HLA-testing, the alleged father can be excluded as the biological father, but, regardless of the degree of probability, positive paternity results cannot be obtained without DNA testing. According to the results of the National Human Genome Project, human genome consists of approximately 30.000 genes. The vast majority of human DNA is not organized in genes and has no genetic expression or visible function. Non-coding DNA contains genetic markers important for human identification. Short tandem repeats, or STRs, are a class of microsatellites consisting of tandemly repeated sequences of 2 to 6 base pair length monomers. Most of the microsatellites show a high degree of polymorphism, which can be evaluated by PCR technique, and used in criminalistics, forensic identification and parentage testing. A source of DNA in parentage testing are blood samples or buccal swabs which are routinelly used. Amplification of isolated DNA can be performed in 25-30 cycles by PCR, and fragments are separated by capillary electrophoresis. CONCLUSION: The probability of paternity of 99.99% or higher corresponds to the paternity "practically proven", indicating that the alleged father is the biological father. Such results can be obtained only by DNA testing. DNA-testing laboratories are required to conduct validation of laboratory facilities, equipment and staff and are subject to permanent control by the society.
The Florida Supreme Court's decision in Pate v Threlkel is an early warning sing of the massive impact human genome research will have on medical practice. Genetic screening is a scientific tool whose widespread use in clinical medicine will expand due to the combined influences of the federally funded Human Genome Project, biotechnology market forces, and corporate and societal pressures to both use and further develop the technique. Once testing becomes cost-effective, clinicians, by virtue of their position as "knowledgeable professionals" and as the primary source of health information for patients with genetic disorders, will be required to act as gatekeepers to the genetic heritage of their patients. This will seriously impact the legal definitions of reasonable care, a physician's duty to warn, the concept of informed consent, and the confidentiality of medical records.
The following essay reports on the first session of a 2-day workshop on genetic diversity and science communication, organized by the Institute of Genetics. I argue that the four talks in this session reflected two different facets of a 'post-Human Genome Project (HGP)' view of human genetics. The first is characterized by an increasing interest in genetic differences. Two speakers - Troy Duster and Jasber Singh - expressed skepticism about one aspect of this trend: an emphasis on race in medicine and genetics. The other two speakers - Kenneth Weiss and Gustavo Turecki - spoke to a second facet of the post-HGP view: a recognition of the difficulty in translating genetic discovery into medical or public health applications. Though both sets of talks were highly critical of current trends in genetic research, they pulled in opposite directions: one warned about the role of genetics in stabilizing racial categories, while the other lamented the failure of any genetic claims or categories to stabilize at all. I argue that the use of racial categories in medicine seems likely to encounter scientific, medical, and social challenges.