Last revised June 9, 2002 Working draft
Making new technology work may be easier than using it to discover truth. Roger Brent "Functional genomics: learning to think about gene expression data" Current Biology 9: R338-R341, 1999. Brent compares microarrays to the microscope and telescope because they "enable observation of the previous unobservable" [transcripts expressed under different conditions in cells, tissues, and organisms].
New technologies often spur scientific advances (and are sometimes overhyped).
Unfamiliar technologies can be confusing for almost everyone.
From bench to bedside:
-Will pharmacogenomics only increase drug market
See also ADME, biomarkers, mechanism of action, metabolic profiling, molecular profiling, personalized medicine, pharmacoproteomics, predictive genomics, structural pharmacogenomics
diseases: Collections of symptoms and signs (phenotypes) that appear to be similar … Similar clinical phenotypes may have very different underlying mechanisms. As genetic capabilities increase, we will have additional tools to subdivide disease designations that are clinically identical. [Allen D. Roses “Pharmacogenetics and future drug development and delivery” Lancet 355 (9212):1358-61 Apr 15, 2000]
Evolving definitions: determinism (genetic), diagnosis, genetics, prognosis.
See also behavioral genomics, clinical genomics, genetic enhancement, molecular diagnostics, molecular pathology,
In most contexts talk about being "post- genomic" seems a little premature. "Post Mendelian" seems more accurate as we move from an era in which genetics has been rooted in monogenic diseases with high penetrance to a greater awareness (but limited understanding) of polygenic diseases (and traits) often with relatively low penetrance. (Thanks to Sam Broder, Celera Genomics, speaking at CHI’s Implications of Human Genetic Variation, SNPs, Polymorphisms, Diseases & Treatment meeting, Nov. 1998 for this useful insight.)
Useful concepts: biocomplexity, complex, complexity, nonlinear.
Challenges and uncertainties
genetic testing: Until now, government sponsored committees convened to address ‘genetic testing’ have generally limited their definition and their reports to concerns regarding diseases caused by single gene mutations… Another class of ‘genetic tests’ is related to pharmacogenetics, including ... variants or other inherited polymorphic traits that are not diagnostic of disease ... Clear language and differentiation of respective ethical, legal and societal issues are required to prevent inaccurate vernacular usage creating a confused public perception. [Allen Roses “Pharmacogenetics and the practice of medicine” Nature 405: 857-865 June 15 2000]
See also family history, genetic discrimination, genetic testing, "good genes", "bad genes", predisposition test
Risk assessment gets personal. The Median Isn’t the Message by Steven J. Gould http://www.cancerguide.org/median_not_msg.html Cancer genomics glossary
Key points from the working draft Human Genome special issues Feb. 2001
Science's review of "The sequence of the human genome" (J. Craig Venter et al 291: 1304-1352 Feb. 16, 2001) concludes that a "paramount challenge awaits: public discussion of this information and its potential for improvement of personal health ...
Nature's "Initial sequencing and analysis of the human genome" (International Human Genome Sequencing Consortium, 409 (no. 6822:860-914, 15 Feb. 2001) concludes "Finally it has not escaped our notice [a graceful allusion to Crick and Watson's 1953 Nature paper] that
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