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
- USTAR Center for Genetic Discovery is partnering with California based Omicia, to make analyzing a patient’s genome a routine task:The Center is planning on building a web accessible informatics platform to distill genome data to clinically relevant findings using Opal. Opal embeds VAAST, a disease gene finder algorithm invented by Mark Yandell.
- Strand Genomics announced a strategic partnership with BioHealth Innovation: to further expand its Strand Centers for Genomics and Personalized Medicine and diagnostic services in the US market.
- 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.
- Courtagen Life Sciences announced an agreement with Raptor Pharmaceuticals: to provide genetic testing for RP103 clinical trial as a potential treatment for Leigh syndrome and other mitochondrial disorders.
- Personalis announced a partnership with Inova Translational Medicine Institute (ITMI) on whole genome analysis and interpretation: ITMI will perform WGS in an effort to uncover the genomic cause of the disease. Personalis will provide data analysis and clinical interpretation of the results to identify any likely genetic causes. The Inova team will then review the results and determine how best to use the genomic information in the management of patients’ care at Inova Fairfax Hospital.
- Tute Genomics Selected by Affiliated Genetics (AGI) for Clinical Genome Interpretation: Via this partnering effort, AGI’s genome analytics pipeline will get automated, making the time from sequencing to interpretable results faster. Tute Genomics platform will annotate every genetic variant with public and proprietary data sources and a Tute generated score, which will help with variant prioritization.
- GE Healthcare announced a partnership with Cancer Treatment Services International (CTSI): The purpose of this partnership is to develop a network of 25 cancer care centers in India. Over a period of five years, the two companies will together invest $120 million to establish these centers, through a hub-and-spoke model.
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.
- Bina Technologies introduces Bina Desktop to bring genomic analysis to clinical and academic researchers: The integrated desktop system is small and meant to fit under a scientists’ desk, still performing the same complex whole genome, whole exome, targeted gene panels, and RNA-Seq analysis as the Bina Enterprise offering (formerly known as the Bina Box).
New NGS panels and assays
- Integrated DNA Technologies (IDT) is extending its portfolio by adding the xGen® Inherited Disease and Pan-Cancer Panels: With this additional panel IDT now offers a range of panels for deep sequencing that can be supplemented to cover a comprehensive range of different diseases.
- Ambry Genetics (“Ambry”) announces the launch of two new assays ExomeNext™ and ExomeNext-Rapid™,: which feature lower turnaround times, lower pricing, more comprehensive coverage and a new expedited option called ExomeNext-Rapid™ for severe clinical cases that require an immediate answer for clinical management purposes.
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.
- Return of results in the genomic medicine projects of the eMERGE network: http://journal.frontiersin.org/Journal/10.3389/fgene.2014.00050/full
- Patients’ views on Incidental Findings (IF) from clinical exome sequencing: http://ww2.aievolution.com/acm1401/index.cfm?do=abs.viewAbs&abs=2546