Do-it-yourself genetic testing

Center for Bioinformatics and Computational Biology, University of Maryland, College Park, MD 20742, USA. .
Genome biology (Impact Factor: 10.47). 10/2010; 11(10):404. DOI: 10.1186/gb-2010-11-10-404
Source: PubMed

ABSTRACT We developed a computational screen that tests an individual's genome for mutations in the BRCA genes, despite the fact that both are currently protected by patents.

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    ABSTRACT: Personalized pharmacogenomics aims to use individual genotypes to direct medical treatment. Unfortunately, the loci relevant for the pharmacokinetics and especially the pharmacodynamics of most drugs are still unknown. Moreover, we still do not understand the role that individual genotypes play in modulating the pathogenesis, the clinical course and the susceptibility to drugs of human diseases which, although appearing homogeneous on the surface, may vary from patient to patient. To try to deal with this situation, it has been proposed to use interpopulational variability as a reference for drug development and prescription, leading to the development of "race-targeted drugs". Given the present limitations of genomic knowledge and of the tools needed to fully implement it today, some investigators have proposed to use racial criteria as a palliative measure until personalized pharmacogenomics is fully developed. This was the rationale for the FDA approval of BiDil for treatment of heart failure in African Americans. I will evaluate the efficacy and safety of racial pharmacogenomics here and conclude that it fails on both counts. Next I shall review the perspectives and the predicted rate of development of clinical genomic studies. The conclusion is that "next-generation" genomic sequencing is advancing at a tremendous rate and that true personalized pharmacogenomics, based on individual genotyping, should soon become a clinical reality.
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    Brazilian Journal of Medical and Biological Research 04/2011; 44(4):268-275. DOI:10.1590/S0100-879X2011007500031 · 1.03 Impact Factor
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    American Journal of Clinical Pathology 05/2011; 135(5):668-72. DOI:10.1309/AJCP9GDNLWB4GACI · 3.01 Impact Factor
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