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Old 12-01-2008, 07:15 AM   #1
Michael L. Altshuler
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In contrast to multifactorial diseases, the genetic basis of many monogenic disorders is firmly established. It is published, summarized and explained on paper or in highly regarded databases such as a series of reviews in http://www.genetests.org/ (recently moved to the NCBI bookshelf, http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene ).

There are thousands of recognized single gene (monogenic) disorders. Their cumulative incidence is roughly 1%.

Also, the penetrance is usually very high with single gene disorders. So must be the clinical validity or predictive value of the DNA tests.

The new-generation methods of DNA sequencing or, for that matter, chip genotyping could probably be capable of detecting all single-gene disease mutations listed in the Genetests reviews over single run. Conceivably, in the clinical diagnostics setting the computer-annotated sequence data should be examined and verified by a qualified physician.

Thus, the rapid comprehensive analysis of the genes implicated in single-gene genetic disorders appears to be feasible.

Does anybody do that? If not, what is the matter?
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Old 12-01-2008, 07:23 AM   #2
ECO
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Michael,

This post did not make any sense where you put it, so I've moved it here. If you had another destination in mind, let me know.

-=ECO
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Old 12-10-2008, 07:37 AM   #3
dcfargo
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Seems like a custom SNP-Chip would pass the FDA/CLIA more readily.
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