The 2012 annual ACMG meeting has just finished (March 27-31), and the topics that deserve attentions are many. One of the main point on which the meeting focused was the use of the next generation techniques in clinical and diagnostic field, as demonstrated by the high number of talks and posters related to this topic. Among them, one of the most interesting is the update given by the Undiagnosed Diseases Program director, Prof. Boerkoel, who presented an "extreme novel filtering" method (here is the link to the paper) to find disease-associated mutations behind conditions represented by just one or a few patients.
Another relevant event of the meeting was the release by the ACMG Board of Directors of the "Policy Statement" regarding Whole Genome and Exome Sequencing. This statement is divided in four section: Definitions, Indication for diagnostic testing, Clinical testing and result reporting, and Genetic screening. This is one of the first attempts to define and elucidate for clinicians and genetists what is next generation sequencing, how and when it can be used as a diagnostic tool, and how they should face and report the results.
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