Do-it-yourself genetic testing

Center for Bioinformatics and Computational Biology, University of Maryland, College Park, MD 20742, USA. .
Genome biology (Impact Factor: 10.81). 10/2010; 11(10):404. DOI: 10.1186/gb-2010-11-10-404
Source: PubMed


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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    • "The first two of these can be addressed in part by improving the accessibility and lowering the costs of obtaining genomic information suitable for clinical use, which is occurring rapidly with expanding certification of genomic technologies and laboratories under CLIA and CAP. Testing fees can be substantial, especially when individual genetic variants are assayed sequentially, and indeed are soon likely to rival the cost of obtaining an entire genome sequence.41 For a genetically heterogeneous condition, such as Charcot-Marie-Tooth disease, that is potentially due to variation at one or more of over 40 genetic loci, for example, whole-exome sequencing can already be performed for less than half the price of the current clinically available “multigene panel.”42 "
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    ABSTRACT: Although the potential for genomics to contribute to clinical care has long been anticipated, the pace of defining the risks and benefits of incorporating genomic findings into medical practice has been relatively slow. Several institutions have recently begun genomic medicine programs, encountering many of the same obstacles and developing the same solutions, often independently. Recognizing that successful early experiences can inform subsequent efforts, the National Human Genome Research Institute brought together a number of these groups to describe their ongoing projects and challenges, identify common infrastructure and research needs, and outline an implementation framework for investigating and introducing similar programs elsewhere. Chief among the challenges were limited evidence and consensus on which genomic variants were medically relevant; lack of reimbursement for genomically driven interventions; and burden to patients and clinicians of assaying, reporting, intervening, and following up genomic findings. Key infrastructure needs included an openly accessible knowledge base capturing sequence variants and their phenotypic associations and a framework for defining and cataloging clinically actionable variants. Multiple institutions are actively engaged in using genomic information in clinical care. Much of this work is being done in isolation and would benefit from more structured collaboration and sharing of best practices. Genet Med 2013:15(4):258–267
    Genetics in medicine: official journal of the American College of Medical Genetics 01/2013; 15(4). DOI:10.1038/gim.2012.157 · 7.33 Impact Factor

  • Medecine sciences: M/S 11/2010; 26(11):999-1001. DOI:10.1051/medsci/20102611999 · 0.67 Impact Factor
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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.
    Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas / Sociedade Brasileira de Biofisica ... [et al.] 03/2011; 44(4):268-75. · 1.01 Impact Factor
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