Thursday, 27 June 2013

PubMed Highlight: The state of the art in Genomic Medicine

As interested in genomic studies, we can not miss this review appeared on Science Translational Medicine, that give a comprhensive overview of the impact and future perspective of genomics applied to medicine. The authors will guide you through a decade of genomic research that lead to identification of genetic causes for many mendelian diseases as well as the dissection of genetic factors underlying complex diseases. They also show how recent advances in sequencing technology have finally allowed for development of clinical genomic-driven care of patients, at least in some field such as cancer pharmacogenomics and genetic diagnosis.

Personalized medicine, the final goal that pushed us to decipher the whole DNA sequence, seems now close...or at least NGS has posed this goal within grasp.

Genomic Medicine: A Decade of Successes, Challenges, and Opportunities
Jeanette J. McCarthy1,2, Howard L. McLeod3 and Geoffrey S. Ginsburg1,*

Sci Transl Med 12 June 2013: Vol. 5, Issue 189, p. 189sr4 

Genomic medicine—an aspirational term 10 years ago—is gaining momentum across the entire clinical continuum from risk assessment in healthy individuals to genome-guided treatment in patients with complex diseases. We review the latest achievements in genome research and their impact on medicine, primarily in the past decade. In most cases, genomic medicine tools remain in the realm of research, but some tools are crossing over into clinical application, where they have the potential to markedly alter the clinical care of patients. In this State of the Art Review, we highlight notable examples including the use of next-generation sequencing in cancer pharmacogenomics, in the diagnosis of rare disorders, and in the tracking of infectious disease outbreaks. We also discuss progress in dissecting the molecular basis of common diseases, the role of the host microbiome, the identification of drug response biomarkers, and the repurposing of drugs. The significant challenges of implementing genomic medicine are examined, along with the innovative solutions being sought. These challenges include the difficulty in establishing clinical validity and utility of tests, how to increase awareness and promote their uptake by clinicians, a changing regulatory and coverage landscape, the need for education, and addressing the ethical aspects of genomics for patients and society. Finally, we consider the future of genomics in medicine and offer a glimpse of the forces shaping genomic medicine, such as fundamental shifts in how we define disease, how medicine is delivered to patients, and how consumers are managing their own health and affecting change.

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