AMP Reports on Possibilities, Challenges, and Applications of Next-Generation Sequencing

Bethesda, MD, October 9, 2012 – The Association for Molecular Pathology (AMP) published the report of the Whole Genome Analysis (WGA) Working Group of the AMP Clinical Practice Committee in the November 2012 issue of The Journal of Molecular Diagnostics (JMD). Titled “Opportunities and Challenges Associated with Clinical Diagnostic Genome Sequencing,” the timely report provides a detailed and compelling overview of the landscape of next generation sequencing (NGS) technology and its clinical relevance and impact on improving patient care. The issues addressed in the report are comprehensive, including “…current technical, bioinformatic, and clinical implementation considerations, as well as medical applications, clinical utility, and ethical, legal, and education issues presented by genome-level diagnostic testing.” 

NGS-related technologies and instrumentation introduced over the past decade have significantly alleviated the amount of resources required to conduct complex genomic analysis. “The possibilities of these technologies are numerous,” noted Iris Schrijver, AMP President and lead author of the report. “As the only Association whose members are experts specifically dedicated to the field of molecular pathology, AMP has the responsibility to initiate and lead the discussion on safe, effective and practical applications of next-generation sequencing.”

The report illuminates the current state of NGS by calling out and highlighting the issues to be addressed in greater depth moving forward. “The next phase of reporting will include detailed studies of the validation, interpretation, and bioinformatics elements of NGS. We are excited to collaborate with other organizations to develop guidelines for application and quality assessment,” said Jane Gibson, WGA Working Group Chair. “While this report is comprehensive, there is much yet to be done.”

A full copy of the report in PDF format is available online at: http://bit.ly/OHt5hr
 

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Notes for editors 
Schrijver, I, et al: Opportunities and Clinical Challenges Associated with Clinical Diagnostic Genome Sequencing. The Journal of Molecular Diagnostics 2012, 14: 541-549, published by Elsevier

About The Journal of Molecular Diagnostics
The Journal of Molecular Diagnostics, (http://jmd.amjpathol.org), the official publication of the Association for Molecular Pathology, co-published by the American Society for Investigative Pathology, seeks to publish high quality original papers on scientific advances in the translation and validation of molecular discoveries in medicine into the clinical diagnostic setting, and the description and application of technological advances in the field of molecular diagnostic medicine. The editors welcome for review articles that contain: novel discoveries or clinicopathologic correlations including studies in oncology, infectious diseases, inherited diseases, predisposition to disease, or the description of polymorphisms linked to disease states or normal variations; the application of diagnostic methodologies in clinical trials; or the development of new or improved molecular methods for diagnosis or monitoring of disease or disease predisposition.

The Journal of Molecular Diagnostics, with an Impact Factor of 3.576, ranks 15th among 78 journals in Pathology, according to 2011 Journal Citation Reports® Thomson Reuters, 2012.

About AMP
The Association for Molecular Pathology (AMP) is an international medical professional association dedicated to the advancement, practice, and science of clinical molecular laboratory medicine and translational research based on the applications of molecular biology, genetics, and genomics. For more information, please visit www.amp.org.

About Elsevier

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Media contact
David Sampson
Executive Publisher
Elsevier
+1-215-239-3171
jmdmedia@elsevier.com

Mary Steele Williams
Association for Molecular Pathology (AMP)
+1-301-634-7921
mwilliams@amp.org