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{bio,medical} informatics

Monday, July 17, 2000

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Individual.Com The SNP Consortium and Orchid Announce Collaboration to Determine Frequency of SNPs in Diverse Populations
"Orchid BioSciences, Inc. (Nasdaq: ORCH) and The SNP Consortium Ltd. today announced that they have entered into an agreement under which Orchid will determine the allelic frequency of 60,000 single nucleotide polymorphism (SNP) genomic markers in diverse populations. This work will be undertaken in Orchid's MegaSNPatron(TM) service facility in Princeton using its SNP-IT(TM) primer extension technology."
GeneLetter Drawing DNA lines of ethnicity
"The idea of using genetics to determine ethnic heritage has been growing in popularity over recent years. When Rick Kittles, a geneticist at Howard University, offered to trace tribal roots via a $350 DNA test, African Americans flooded his telephone line with requests.

"Even if an identifying marker shows up, the result isn't necessarily definitive. While certain markers may be more common to one ethnic group, most also can be found in other populations as well.

"Because of the tremendous genetic variation within populations, it would be biologically impossible to settle on a limited number of genetic markers that could define "Native Americans," says Morris Foster, an anthropologist at the University of Oklahoma who has wrestled with the risks faced by Indian tribes interested in genetic research.

Furthermore, Foster added in an e-mail interview with GeneLetter, "it is absurd to try to define what is essentially a social identity by using biological characteristics. This, though, is how racism has historically worked.""

redux [04.11.00]
The British Medical Journal Science, medicine, and the future: Pharmacogenetics
"Pharmacogenetic testing may provide the first example of a mechanism whereby DNA based testing can be applied to populations, but we are still a long way from having a pharmacogenetic DNA chip that general practitioners can use to identify all the drugs to which any particular patient is sensitive. However, there is increasing evidence that pharmacogenetics will be extremely important in the health service. One day it may be considered unethical not to carry out such tests routinely to avoid exposing individuals to doses of drugs that could be harmful to them. The ability to identify sensitive individuals, either before drug treatment or after an adverse drug response would also be of economic importance as it would avoid the empiricism associated with matching the most appropriate drug at its optimal dose for each patient. It might also substantially reduce the need for hospitalisation, and its associated costs, because of adverse drug reactions.

Our increasing knowledge of the mechanisms of drug action, the identification of new drug targets and the understanding of genetic factors that determine our response to drugs may allow us to design drugs that are specifically targeted towards particular populations or that avoid genetic variability in therapeutic response. The extent of genetic polymorphism in the human population indicates that pharmacogenetic variability will probably be an issue for most new drugs.

The development of pharmacogenetics provides at least one mechanism for taking prescription away from its current empiricism and progressing towards more "individualised" drug treatment. In view of the momentum that pharmacogenetics is developing, it is essential that the subject is taught as part of the medical student curriculum."

redux [04.16.00]
The New York Times Back to the Future: Medicine and Our Genes
[requires 'free' registration]
"SINCE the invention of the stethoscope by the French physician Réné Laennec in 1816, medicine has been troubled by a predicament: the technological advances that have enhanced our ability to diagnose and cure have also distanced us from our patients.

This problem was highlighted recently, when PE Celera Corporation, of Rockville, Md., announced that it had identified the three billion chemical letters of which human genes are made -- a feat accomplished by row upon row of tireless, automated gene-sequencing machines, like something out of Aldous Huxley's "Brave New World."

But this time technology has finally advanced far enough that it will enable medicine and medical research to return to some of its best, and most old-fashioned, traditions. In fact, the emerging gene sciences will reunite the patient, doctor and researcher in ways not seen since the 19th and early 20th centuries."

GeneLetter Genetics for all
"The topic of human genetics did not play a prominent role in the health care reform debates that began in the U.S. in the early 1990s. While participants recognized how progress in the field could revolutionize medicine and emphasize prediction and prevention in clinical practice, the reforms proposed for the multi-billion dollar health care industry did not utilize the "genetic card".

"While I am optimistic about technology providing us with new ways to attack important social problems, I do not think it is a cure-all. Making sure everyone can benefit from the new, genetically-informed medicine is a moral and political dilemma as much as a technological challenge. To be properly dealt with, it will require continued broad based, informed public debate and democratic action. "

[ rhetoric ]

Bioinformatics will be at the core of biology in the 21st century. In fields ranging from structural biology to genomics to biomedical imaging, ready access to data and analytical tools are fundamentally changing the way investigators in the life sciences conduct research and approach problems. Complex, computationally intensive biological problems are now being addressed and promise to significantly advance our understanding of biology and medicine. No biological discipline will be unaffected by these technological breakthroughs.


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