Circulation · 2012 · 96 citations · 38 references
Life SciencesCardiologyGeneticsGenetic CounselingHuman GeneticsMedical GeneticsCardiovascular GenomicsClinical GenomicsGenetic EthicsGenetic Research EthicsGenetic RiskClinical Genomics EthicsFamily History AssessmentFamily History MethodologyGenetic Disease EvaluationHuman Health EffectsMolecular GenotypingPotential Conflicts Of InterestRegulatory Requirements
A lthough the power of family history to identify a genetic predisposition to disease has been appreciated for some time, it is only recently, through the development of efficient methods for molecular genotyping and specific genetic tests, that a detailed genetic evaluation could be used to influence clinical medicine. Indeed, the mapping of the human genome and the more recent development of high-throughput methodologies have the potential to entirely transform how we think about genetic predisposition to disease. This represents a great opportunity to improve human health. Yet these recent technological advances also create new moral, ethical, and legal challenges that must be addressed before the opportunities to improve human health can be fully realized. In the present report, we summarize the existing regulatory landscape with respect to the use of genetic information in clinical medicine and offer new policy recommendations designed to facilitate the safe incorporation of the latest technologies and research findings into the clinical domain. Specifically, we focus on areas in which genetic evaluation, including personal and family history, examination, counseling, and testing, has the potential to impact the practice of cardiovascular medicine and research.
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The Path to Personalized Medicine
Margaret Hamburg, Francis S. Collins · New England Journal of Medicine · 2010 · 1.9K citations · Full text
The complete genome of an individual by massively parallel DNA sequencing
David A. Wheeler, Maithreyan Srinivasan, Yufeng Shen et al. · Nature · 2008 · 1.8K citations · Full text
Effect of <i>VKORC1</i> Haplotypes on Transcriptional Regulation and Warfarin Dose
Mark J. Rieder, Alex P. Reiner, Brian F. Gage et al. · New England Journal of Medicine · 2005 · 1.4K citations · Full text