Looking back at genomic medicine in 2011

CNRS Institute of Biological Sciences, European Institute for Systems Biology & Medicine, Claude Bernard University, 69007 Lyon, France. .
Genome Medicine (Impact Factor: 5.34). 01/2012; 4(1):9. DOI: 10.1186/gm308
Source: PubMed
Download full-text


Available from: Muin J Khoury
  • [Show abstract] [Hide abstract]
    ABSTRACT: Handbook of Systems Biology, 2012 343-365. 10.1016/B978-0-12-385944-0.00018-6
    No preview · Book · Dec 2011
  • [Show abstract] [Hide abstract]
    ABSTRACT: Human genome sequencing technology is developing rapidly. These developments are providing exciting opportunities for genetic mapping of human traits, ranging from accelerated discovery of mutations underlying relatively simple Mendelian disorders to more genetically complex human diseases. This chapter outlines the development of whole-genome sequencing in a historical context of genetic mapping and explores the impact that sequencing is having on gene discovery study design. Using the example of epilepsy, the authors outline the opportunities and barriers for the translation of genetic predictors from discovery to the clinic. Finally, the authors discuss the practical challenges of actual implementation of whole-genome sequencing to the clinic.
    No preview · Article · Oct 2012
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: Purpose: We examined hospital use of the epidermal growth factor receptor assay in patients with lung cancer in the United States. Our goal was to inform the development of a model to predict phase 3 translation of guideline-directed molecular diagnostic tests. Methods: This was a retrospective observational study. Using logistic regression, we analyzed the association between hospitals' institutional and regional characteristics and the likelihood that an epidermal growth factor receptor assay would be ordered. Results: Significant institutional predictors included affiliation with an academic medical center (odds ratio, 1.48; 95% confidence interval, 1.20-1.83), participation in a National Cancer Institute clinical research cooperative group (odds ratio, 2.06, 1.66-2.55), and -availability of positron emission tomography scan (odds ratio, 1.44, 1.07-1.94) and cardiothoracic surgery (odds ratio, 1.90, 1.52-2.37) services. Significant regional predictors included metropolitan county (odds ratio, 2.08, 1.48-2.91), population with above-average education (odds ratio, 1.46, 1.09-1.96), and population with above-average income (odds ratio, 1.46, 1.04-2.05). Distance from a National Cancer Institute cancer center was a negative predictor (odds ratio, 0.996, 0.995-0.998), with a 34% decrease in likelihood for every 100 miles. Conclusion: In 2010, only 12% of US acute-care hospitals ordered the epidermal growth factor receptor assay, suggesting that most patients with lung cancer did not have access to this test. This case study illustrated the need for: (i) increased dissemination and implementation research, and (ii) interventions to improve adoption of guideline-directed molecular diagnostic tests by community hospitals.
    Full-text · Article · Feb 2013 · Genetics in medicine: official journal of the American College of Medical Genetics
Show more