N Engl J Med. 2010 Mar 10.
Whole-Genome Sequencing in a Patient with Charcot-Marie-Tooth Neuropathy.
Lupski JR, Reid JG, Gonzaga-Jauregui C, Rio Deiros D, Chen DC, Nazareth L, Bainbridge M, Dinh H, Jing C, Wheeler DA, McGuire AL, Zhang F, Stankiewicz P, Halperin JJ, Yang C, Gehman C, Guo D, Irikat RK, Tom W, Fantin NJ, Muzny DM, Gibbs RA.
In this paper researches address a new question that is the hope for pharmacogenomics based therapy. The identification of individual genes that alter alter the course of a patients care is constantly growing. What these studies add to our arsenal of knowledge is often a probabilty that an individual has for a certain outcome.
The study above is a different beast, here reseachers address what specific alleles (sequence) a patient has and draws conclusions as to what the appropiate treatment course might be. This approach is only possible as population genetics and sequencing technology have matured.
If you are a Tox. student I would like to know what you think about the following.
What different forms can this disease take?
What form is identified in this study, and what allele is used to determine this?
What do you think about using genomic sequencing like this?
Would you want your genome sequenced? Why or why not?