Personalized Medicine: Genetic Diagnosis for Inherited Cardiomyopathies/Channelopathies

Departments of Medicine (Division of Cardiovacular Diseases), Pediatrics (Division of Pediatric Cardiology), and Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, Minnesota, Estados Unidos. Electronic address: .
Revista Espa de Cardiologia (Impact Factor: 3.79). 02/2013; 66(4). DOI: 10.1016/j.rec.2012.12.010
Source: PubMed


Major advances in the field of molecular genetics have expanded our ability to identify genetic substrates underlying the pathogenesis of various disorders that follow Mendelian inheritance patterns. Included among these disorders are the potentially lethal and heritable channelopathies and cardiomyopathies for which the underlying genetic basis has been identified and is now better understood. Clinical and genetic heterogeneity are hallmark features of these disorders, with thousands of gene mutations being implicated within these divergent cardiovascular diseases. Genetic testing for several of these heritable channelopathies and cardiomyopathies has matured from discovery to research-based genetic testing to clinically/commercially available diagnostic tests. The purpose of this review is to provide the reader with a basic understanding of human medical genetics and genetic testing in the context of cardiovascular diseases of the heart. We review the state of clinical genetic testing for the more common channelopathies and cardiomyopathies, discuss some of the pertinent issues that arise from genetic testing, and discuss the future of personalized medicine in cardiovascular disease. Full English text available

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    • "This includes personalized pharmacotherapy targeting genomic aberrations in an individual's unique molecular and genetic profile, while at the same time decreasing adverse drug reactions caused by altered drug metabolism encoded by the patients' genome. Personalized medicine could then potentially reduce disease incidence and mortality, and increase therapeutic efficacy, as well as impact other aspects of health care (Ackerman et al., 2013; Whirl-Carrillo, 2012). To establish PM in the community at the grassroots level, public engagement and citizen participation in genomics medicine (GM) are essential. "
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    ABSTRACT: Abstract Science journalism is a previously neglected but rapidly growing area of scholarship in postgenomics medicine and socio-technical studies of knowledge-based innovations. Science journalism can help evaluate the quantity and quality of information flux between traditional scientific expert communities and the broader public, for example, in personalized medicine education. Newspapers can play a crucial role in science and health communication, and more importantly, in framing public engagement. However, research on the role of newspaper coverage of genomics-related articles has not been readily available in resource-limited settings. As genomics is rapidly expanding worldwide, this gap in newspaper reportage in China is therefore an important issue. In order to bridge this gap, we investigated the coverage of genomics medicine in eight major Chinese national newspapers, using the China Core Newspapers Full-text Database (CCND) and articles in scientific journals in PubMed from 2000 to 2011. Coverage of genomics medicine in these eight official government Chinese newspapers has remained low, with only 12 articles published per newspaper per year between 2000 and 2011. Between 2000 and 2011, over a 40-fold difference was observed in the number of genomics medicine-related articles in PubMed, as compared to that in newspapers. The numbers of genomics-related articles among the eight major newspapers from 2000 to 2011 were significantly different (p=0.001). Commentary/mini reviews and articles about gene therapy for specific diseases were most frequently published in 2006 and 2011. In parallel, we observed that "cancer gene therapy," "new susceptibility gene locus," and "gene technology revolution" were the top three thematic strands addressed in the newspapers, even though their volume remained low. This study reports on the under-representation of newspaper coverage of genomics medicine in China, despite the vast growth of scientific articles in journals in this knowledge domain. This underscores the need to enhance collaboration between scientists, medical professionals, and journalists as an important strand of overall communications efforts in disseminating genomic medicine knowledge to larger audiences. Yet a substantive question remains to be examined: would traditional journalism, alone, be adequate to address the advances and challenges in genomics medicine in the media? Conversely, should we invest in science journalism programs as a subspecialty in biomedicine so scientists and clinicians acquire the twin scholarship of science/clinical medicine and journalism in their formative education?
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