Boston Children’s Hospital, Children’s Hospital of Philadelphia, and Cincinnati Children’s Hospital have been awarded an $8.5 million federal grant that they plan to use to expand the Genomics Research and Innovation Network (GRIN). These three hospitals formed GRIN in 2015 with the goal of accelerating the translation of genomic discoveries about pediatric diseases into improved clinical care. Now the collaboration will use this award, which came from the National Institute of Health’s National Center for Advancing Translational Sciences, to transform GRIN into a larger federation of medical centers equipped to share pediatric genomic data while protecting patient privacy. University of Pittsburgh Medical Center and Washington University, St. Louis have already joined the project. By expanding GRIN to include more medical centers, the collaboration hopes to help identify large patient cohorts for pediatric genomic studies, a significant challenge for this field.

“As medicine evolves from art to digital data-driven science, large datasets are needed for care and discovery,” said Kenneth Mandl, MD, MPH, director of the Boston Children’s Hospital Computational Health Informatics Program and the project’s principal investigator. “Clinicians and researchers need diverse reference populations to better understand individual patients’ genetic findings, while allowing data to remain with the patients and the hospitals that generated it. And those reference populations should resemble the patients being studied and treated.”

Promega, Merck Partner on Microsatellite Instability Co-Diagnostic

Merck has tapped Promega to develop a microsatellite instability (MSI) companion diagnostic for use with Merck’s anti-programmed cell death protein 1 therapy, Keytruda (pembrolizumab). Promega’s MSI detection technology uses polymerase chain reaction to measure the genomic accumulation of insertion or deletion errors caused by a deficient mismatch-repair system, which occurs in certain types of solid tumors. This helps to determine whether a tumor is MSI-high and therefore more likely to respond to an immune checkpoint inhibitor therapy such as Keytruda. Merck selected Promega to develop this companion diagnostic because Promega’s MSI technology has already been used extensively in clinical research for more than 15 years and is supported by more than 140 peer-reviewed publications. Additionally, “unlike other DNA-based, molecular screening options, Promega MSI technology uses five mono-morphic mononucleotides, which is recommended by the National Cancer Institute,” said Jeff Bacher, PhD, a senior research scientist at Promega Corporation.

Thermo Fisher Enters Breath Biopsy Collaboration, Introduces New NGS Platform

Thermo Fisher Scientific has joined forces with Owlstone Medical to develop a noninvasive breath biopsy for early disease detection. Under the terms of the collaboration, both parties will work to integrate the Thermo Scientific Q Exactive GC Hybrid Quadrupole-Orbitrap Mass Spectrometer into Owlstone Medical’s Breath Biopsy platform. Once the technology is validated, Owlstone Medical will use the new platform in metabolomic studies of breath samples that aim to discover novel biomarkers that could be translated into clinical tests.

Separately, Thermo Fisher has also launched the Ion Torrent Genexus System, which the company says is the first next-generation sequencing (NGS) platform that delivers results in a single day. The system features a fully integrated, specimen-to-report workflow as well as a novel sequencing chip design that enables labs to cost-effectively process small sample batches. Thermo Fisher hopes that this platform will enable local hospitals to overcome common NGS adoption barriers and to start offering this type of testing. The company also envisions laboratories using the Genexus System to generate comprehensive NGS results within the same time frame as single-gene tests and analyzing NGS information in parallel with first-line testing modalities such as immunohistochemistry. The first test available on the Genexus System is the Oncomine Precision assay, a pan-cancer panel that enables genomic profiling to be performed on both formalin-fixed, paraffin embedded tissue and liquid biopsy samples.

Qiagen to Develop Tests on Illumina’s NGS Systems

Illumina and Qiagen have entered a 15-year partnership intended to broaden the availability of next-generation sequencing (NGS)-based in vitro diagnostic (IVD) kits. The agreement grants Qiagen non-exclusive rights to develop and globally commercialize diagnostic kits designed for use with Illumina’s MiSeq Dx and NextSeq 550Dx systems. Both partners are also exploring opportunities for Qiagen to develop and market companion diagnostics based on Illumina’s TruSight Oncology assays, which enable comprehensive genomic profiling of tumor samples during immunotherapy. The partnership will initially focus on commercializing oncology diagnostic kits but might expand in the future to include additional clinical diagnostic fields such as cardiology, hereditary diseases, infectious diseases, and inflammatory and autoimmune diseases. “We are committed to expanding the range of clinical use cases addressed by genomic sequencing by enabling partners to deliver IVD tests and companion diagnostics on Illumina’s Dx instruments,” said Francis deSouza, CEO of Illumina. “Our partnership with Qiagen will complement Illumina’s TSO 500 family with additional testing menu options, accelerating NGS adoption in oncology patient management.”

Sherlock Biosciences, Mologic Team on POC Molecular Diagnostics

Sherlock Biosciences and Mologic are collaborating to develop molecular point-of-care diagnostics for both resource-limited and at-home settings. The partnership will combine Sherlock’s synthetic-biology based molecular diagnostics platform, INSPECTR (Internal Splint-Pairing Expression Cassette Translation Reaction), with Mologic’s immunoassay platforms, ELTABA (Enzymatic Ligand Transformation Affinity Binding Assay) and CARD, the latter of which is named after the Mologic Centre for Advanced Rapid Diagnostics that developed it. ELTABA is designed to enable untrained users to measure enzymatic activity outside of the lab. In contrast, CARD is a high-sensitivity lateral flow technology that features several differences from traditional lateral flow instruments, including the use of a novel nanoparticle instead of gold. The Bill & Melinda Gates Foundation supported the development of CARD with a grant that will now be expanded to fund Mologic’s new partnership with Sherlock Biosciences.