This year’s Bio-IT conference – with theme Big Data – was clearly marked by the presence of clinical genetics: its data sharing, analysis, and interpretation challenges echoed throughout the many talks (and exhibit) whether it was Heidi Rhem’s opening plenary session or George Church’s genomics breakfast session, demonstrating that routine sequencing is within reach. Undoubtedly, there have been great developments in the software space in the past years, but scaling for massive genomics data still requires work! Interestingly, overlapping with Bio-IT 2016, the 13th International Congress of Human Genetics held in Kyoto further exemplified what was communicated
in Boston: it’s all about patient care with indications that the commercial and clinical spaces are working together, and with genome sequencing cost dropping and massive amount of data being generated, computing and storage challenges are on everybody’s mind!
Coinciding with Bio-IT were a number of major announcements as listed below:
Benjamin Franklin Award
- This year’s Benjamin Franklin Award – an award presented annually by bioinformatics.org to an individual who has, in her or his practice, promoted free and open access to the materials and methods used in the life sciences – was awarded to Ben Langmead, Assistant Professor at John Hopkins, one of the most influential and highly cited authors of open source bioinformatics software. His Bowtie read alignment tool and its sequel Bowtie 2 are widely used, with more than 10,000 citations between them, and they are an integral part of more than 50 other software tools.
Best Practices Award
- As every year the commercial sector is actively following the Best Practices awards leading up to this event (check out the pre-conference finalists). This year’s Best Practices award winners included the precisionFDA developed by DNAnexus in “Informatics”, Amgen in “Clinical IT & Precision Medicine”, AstraZeneca in “Knowledge Management”, Human Longevity Inc. for their HLI Knowledgebase which currently has more than 20,000 complete genomes coupled with phenotype data (Judges Prize), and last but not least Xoma as the Editors’ Choice Award.
- Six new products were selected and honored among the 46 originally considered new products or product updates. Winners were selected across four categories:
- Research & Clinical Data Management: ChemPlanner by Wiley
- Informatics Tools & Data Analytics: The Cancer Genomics Cloud by Seven Bridges and honorable mention of the GeneStack platform
- Knowledge Management: eaglediscover by Eagle Genomics
- Optimizing Speed & Storage: PetaSuite 1.0 by PetaGene
- The “In Silico Futures Award” went to The Living Heart Model by Dassault Systems, BIOVIA, whereas the “People’s Choice Award” went to the BaseSpace Suite by Illumina.
Data management, analysis, and interpretation
- Genedata released a new Genedata Profiler with strengthened data security and patient privacy by addressing global regulatory requirements with triple-layer data security and bolstered patient privacy for translational research in both the clinical and pre-clinical settings.
- Illumina introduces BaseSpace® Informatics Suite for genomic data analysis for sequence labs. The integrated informatics solution is a platform that includes laboratory information management, data analysis and sharing, sample interpretation, reporting, and advanced cohort analytics.
- Deloitte announced new additions to its ConvergeHEALTH Suite of life sciences End-to-End Evidence Life Cycle Management solutions. These new additions help life sciences companies leverage data in new ways to translate new breakthroughs into clinical practice.
- Sunquest acquires GeneInsight, an IT company that streamlines the analysis, interpretation and reporting of complex genetic tests to enhance its precision medicine capabilities.
- Twist Bioscience acquires Genome Compiler, a developer of software for genetic engineers and molecular and synthetic biologists. The deal will allow Twist to expand into its first location outside the U.S. as well as enable it to offer an e-commerce solution with gene design capabilities for synthetic and molecular biology experiments.
- LGC buys Douglas Scientific from Kingdom Enterprises to expand the buyer’s high-throughput PCR offerings. Douglas Scientific provides high-throughput PCR and quantitative PCR (qPCR) platforms, as well as consumables, to markets that include agbio and clinical research laboratories.
Partnerships and collaborations
- Juno Therapeutics (JUNO) and WuXi AppTec form joint venture, JW Biotechnology (Shanghai) in China with the mission to build China’s leading cell therapy company by leveraging Juno’s world-class chimeric antigen receptor (CAR) and T cell receptor (TCR) technologies together with WuXi AppTec’s R&D and manufacturing platform and local expertise to develop novel cell-based immunotherapies for patients with hematologic and solid organ cancers.
- Flatiron Health announced strategic relationships with Celgene and Amgen to further advance personalized medicine for cancer patients and accelerate clinical research.
- Broad Institute collaborates with cloud providers Amazon Web Services (AWS), Cloudera, Google, IBM, Intel, and Microsoft, to move their leading genome analysis toolkit (GATK) to the cloud to enable cloud-based access.
- Qiagen partners with BioTeam on novel infrastructure for genomics, a microbial genomics solution. BioTeam and QIAGEN’s proof-of-concept appliance packages QIAGEN’s bioinformatics solution for microbial genomics with the BioTeam Appliance scientific computing platform that includes CLC Genomics Workbench enhanced with a series of modules offering specialized tools for microbial typing and microbiome research.
- Seven Bridges signs Collaborative Research and Development Agreement (CRADA) with VA to develop hybrid cloud and Genotype-Phenotype Analytical Engine. The aim of the Hybrid Cloud project outlined in the CRADA is to establish an automated execution framework that has the ability to distribute data, metadata and compute jobs across on-premise and remote resources, on the basis of access permissions, resource availability and specific datasets involved.
- Macrogen selects N-of-One to provide patient-specific interpretation for the launch of its new clinical next-generation sequencing panels.
- Dotmatics partners with BioByte to offer ClogP across the entire Dotmatics Platform which enables users of the Dotmatics Platform including Vortex and Browser to calculate ClogP seamlessly within the applications. This will streamline the research process and speed up the selection of potential drug candidates.
- Human Longevity announced an offering of Series B Preferred Stock, raising in excess of $220 million from Illumina, Celgene, GE Ventures, and Series A investors. HLI plans to use the money to fund the growth and expansion of the company and its products including Health Nucleus.
- Cynvenio clinical trial data supports benefits of multi-template liquid biopsy sequencing for cancer mutational profiling. Molecular diagnostic approaches to cancer detection and monitoring can benefit from a multiple-template strategy that analyzes DNA from circulating tumor cells (ctcDNA) and circulating cell-free DNA (ccfDNA) in blood, as well as from tissue biopsies, according to a new NCI-supported clinical trial published by scientists from Cynvenio Biosystems, Inc., and collaborators.
- Eagle Genomics ranks the most valuable cancer projects. The results of the International Cancer Genome Consortium (https://icgc.org/) data, with over 17,000 patient donors, were translated into a ranking of the most valuable constituent projects according to their scientific value. This analysis was performed using eaglediscover. The eaglediscover platform objectively measures the value of data assets as defined by their usefulness and relevance: “The Cancer Genome Atlas (TCGA) Breast Cancer” was found to be taking the top spot.
- Illumina is now offering professional consulting services from technical experts to help laboratories minimize trial-and-error when adopting new protocols, scaling up, or implementing NGS for the first time. Services include proof-of-concept testing, genomics IT consulting, instrument qualification and compliance, hands-on-training, and bioinformatics services. Services will help laboratories implement and scale NGS quickly and easily.
Some other news releases, not directly associated with the Bio-IT World Conference, but released within the same time frame and of relevance to the same audience
- Apple’s ResearchKit incorporates more genetics through a new 23andMe module. 23andMe has released a new software module, allowing its genetics results to be incorporated into ResearchKit apps.
- Second genome sequencing of gorilla reveals level of similarity with us. This latest genome sequence positions the gorilla even closer to the human genome with only a 1.6% difference in genes of both of species.
- New effort by 23andMe could increase diversity in genetic research. The National Institutes of Health (NIH) has funded a new study by scientists at 23andMe that could help alleviate some of the existing disparities in genetic research between people of European ancestry and people of African, Latino and Asian ancestry. The $250,000 Small Business Innovation Research Grant will go towards developing an analysis pipeline that is an alternative to the traditional genome-wide association study (GWAS) for identifying genetic variants associated with disease.
- First quarter brings in between $980M and $1.8B digital health funding based on a report released by Startup Health and Rock Health. Rock Health’s data showed a 50 percent growth year over year — this was the highest first quarter total the digital health seed fund has tracked. The two largest deals this quarter, Flatiron’s $175 million and Jawbone’s $165 million made up 35% of the funding tracked.