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7 months ago
in The Unusually High Standards of Genomics on Think Gene
Singles ONLY project
In contrast to multifactorial diseases, the genetic basis of many monogenic disorders appears to be 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?b... ).
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 utility of the DNA tests.
Modern methods of genome analysis could probably be capable of detecting all single-gene disease mutations listed in the Genetests reviews over single run (next-generation DNA sequencing or high density array hybridization).
Conceivably, in the clinical diagnostics setting the computer-annotated sequence data must be reviewed and verified by a knowledgeable physician. The physician carries the brunt of responsibility for the patient life and welfare. Being that he/she is put in the position of the ultimate judge on whether or not the information produced by Navigenics or similar company can be useful or helpful.
For some time I have been wandering about the web in the hope of finding encouraging testimonials on the use of personalized genomics in the medical practice coming from the medical practitioners. But I have found essentially nothing.
Thus, the rapid comprehensive analysis of the genes involved in single-gene genetic disorders appears to be both feasible and not available.
Does anybody do that? If not, what is the matter?
In contrast to multifactorial diseases, the genetic basis of many monogenic disorders appears to be 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?b... ).
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 utility of the DNA tests.
Modern methods of genome analysis could probably be capable of detecting all single-gene disease mutations listed in the Genetests reviews over single run (next-generation DNA sequencing or high density array hybridization).
Conceivably, in the clinical diagnostics setting the computer-annotated sequence data must be reviewed and verified by a knowledgeable physician. The physician carries the brunt of responsibility for the patient life and welfare. Being that he/she is put in the position of the ultimate judge on whether or not the information produced by Navigenics or similar company can be useful or helpful.
For some time I have been wandering about the web in the hope of finding encouraging testimonials on the use of personalized genomics in the medical practice coming from the medical practitioners. But I have found essentially nothing.
Thus, the rapid comprehensive analysis of the genes involved in single-gene genetic disorders appears to be both feasible and not available.
Does anybody do that? If not, what is the matter?
1 reply
Andrew Yates
Patients and liability, foremost. But good question. Why DOESN'T that test exist? I think it will in the next ten years when full genome sequencing is more prevalent.
