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Translational genomics in personalized medicine – scientific challenges en route to clinical practice

DOI: 10.1186/1877-6566-6-2

Keywords: Biomarkers, Bioinformatics, Cancer, Genomics, Next-generation sequencing, Personalized medicine, Economics, Ethics

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Abstract:

Personalized medicine generally promises to result in both higher quality in treatment for individual patients and in lower costs in health care since patients will be offered only such therapies that are more effective for them and treatments that will not be safe or effective will be avoided. Recent advancements in biomedical and genomic sciences have paved the way to translate such research into clinical practice and health policies. However, the move towards greater personalization of medicine also comes along with challenges in the development of novel diagnostic and therapeutic tools in a complex framework that assumes that the use of genomic information is part of a translational continuum, which spans from basic to clinical research, preclinical and clinical trials, to policy research and the analysis of health and economic outcomes. The use of next-generation genomic technologies to improve the quality of life and efficiency of healthcare delivered to patients has become a mainstay theme in the field as benefits derived from such approaches include reducing a patient’s need to go through ineffective therapies, lowering side- and off-target effects of drugs, prescribing prophylactic therapies before acute exacerbations, and reducing expenditures.As such, personalized medicine promises to increase the quality of clinical care and, in some cases, to decrease health care costs. Besides the scientific challenges, there are several economic hurdles. For instance, healthcare providers need to know, whether the approach of personalized healthcare is affordable and worth the expenses. In addition, the economic rationale of personalized healthcare includes not only the reduction of the high expense of hospitalizations, the predictive diagnostics that will help to reduce cost through prevention or the increased efficacy of personalized therapies needs to offset prices of drugs. There are also several factors that influence payer adoption, coverage and reimbursement; t

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