Bethesda, MD, October 18, 2012 The Association for Molecular Pathology (AMP) published thereport of the Whole Genome Analysis (WGA) Working Group of the AMP Clinical Practice Committeein the November 2012 issue of The Journal of Molecular Diagnostics (JMD). Titled "Opportunities andChallenges Associated with Clinical Diagnostic Genome Sequencing," the timely report provides adetailed and compelling overview of the landscape of next generation sequencing (NGS) technologyand its clinical relevance and impact on improving patient care. The issues addressed in the reportare comprehensive, including "…current technical, bioinformatic, and clinical implementationconsiderations, as well as medical applications, clinical utility, and ethical, legal, and education issuespresented by genome-level diagnostic testing."1
NGS-related technologies and instrumentation introduced over the past decade have significantlyalleviated the amount of resources required to conduct complex genomic analysis. "The possibilitiesof these technologies are numerous," noted, Iris Schrijver, AMP President and lead author of thereport. "As the only Association whose members are experts specifically dedicated to the field ofmolecular pathology, AMP has the responsibility to initiate and lead the discussion on safe, effectiveand practical applications of next-generation sequencing."
The report illuminates the current state of NGS by calling out and highlighting the issues to beaddressed in greater depth moving forward. "The next phase of reporting will include detailed studiesof the validation, interpretation, and bioinformatics elements of NGS. We are excited to collaboratewith other organizations to develop guidelines for application and quality assessment," said JaneGibson, WGA Working Group Chair. "While this report is comprehensive, there is much yet to bedone."