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?
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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