The Association for Molecular Pathology (AMP), Bethesda, Md, has 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."(1)

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."

Click here for a complete copy of the report.

To learn more about AMP’s annual meeting, which will be held in Long Beach, Calif, from October 25 to 27, click here.

[Source: AMP]