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ACMG 2014 headlines included rethinking diagnostics, incidental findings, & variant interpretation

This year’s Annual Clinical Genetics Meeting was held in Nashville, Tennessee, and made this location for a couple of days a site of pilgrimage for genetics professionals (medical and clinical geneticists, physicians/clinicians, laboratory directors and technicians) and tool providers: Meeting participants were able to hear first-hand about the most recent clinical trends, obstacles, and new applications in how genetics and genomics are being integrated into clinical practice. The conference with its content rich sessions and talks and an ever-bigger exhibit was also accompanied by major new headlines and announcements that I want to summarize for you in this blog post.



Commercial partnership announcements

  • BioDiscovery partners with N-of-One: to provide an integrated genomic analysis interpretation solution. Their goal is to enable clinicians to use genomic data generated by laboratories more easily and efficiently to identify targeted therapeutic options appropriate for each specific patient as well as better understand the molecular profile of the patient’s tumor.

 New software tools or tool enhancements

  • Syapse launches knowledge integration features that enable clinical omics reporting. These new capabilities enable popular third-party commercial omics interpretation providers to make their content available through the Syapse platform. Syapse also announced that its customers will be able to integrate public and open databases, such as ClinVar, COSMIC, PhenoDB, and OMIM, through standard connectors in its platform.

 New NGS panels and assays

Other relevant announcements in conjunction with this conference

  • Intel & Broad Institute dramatically improved GATK3.1: By optimizing the latest version of the Broad’s Genome Analysis Toolkit (GATK) 3.1, Intel and Broad Institute were able to achieve three to five times overall improvement in variant discovery to meet the challenges of research and accelerate discovery. GATK3.1 is licensed for commercial organizations through Appistry.
  • The electronic Medical Records and Genomics (eMERGE) network, established in 2007 to further genomic discovery using biorepositories linked to the electronic health record (EHR), published a paper (Kullo et al., 2014) describing studies conducted within the eMERGE network to develop best practices for integrating genomic findings into the EHR, and the challenges associated with such work.
  • ACMG Updates Recommendation on “Opt Out” for Genome Sequencing Return…: Heated discussions surrounding the initial AMCG recommendations for the return of results from genome-scale sequencing resulted in a careful review and updated recommendations. These include that patients have now an opportunity to “Opt Out” of the analysis of medically actionable genes when undergoing either whole genome or whole exome sequencing.



Brigitte Ganter


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