The Center for Integrated Diagnostics (CID) at Massachusetts General Hospital (MGH) is collaborating with InterSystems, a provider of software for connected healthcare, to help accelerate innovations in molecularly targeted medicine.
MGH CID is exploring how the InterSystems HealthShare® health informatics platform can support genomic research and clinical innovations. HealthShare enables interoperability across multiple systems and data formats, making it possible to capture, share, understand, and act on large volumes of structured and unstructured health information. The platform is used by private hospitals and health systems, regional and statewide health information exchanges, and entire nations.
The CID research is specifically leveraging HealthShare to target large data set management and cross-organizational collaboration, to allow integration of genetic and clinical data to improve clinical decision support and to enhance genomic knowledge discovery.
The CID’s mission is to foster the development of actionable clinical diagnostics and to accelerate the adoption of novel personalized therapies. The CID genetically fingerprints patient tumors across the complete spectrum of disease sites to guide targeted therapies, thereby enhancing the efficacy of drug treatments and supporting new clinical trial designs. Patients whose cancers harbor susceptible genotypes can be offered the most appropriate clinical treatment.
“While we have already made strides in the cancer field, it is our goal to expand our testing to other disciplines,” said A. John Iafrate, M.D.-Ph.D, founder and director of the CID. As a molecular pathologist, Dr. Iafrate oversees research focused on lung and brain tumors, and he has been closely involved in the clinical development of the anti-cancer drug Crizotinib and companion diagnostics in ALK- and ROS1-positive lung cancers.
The Centers for Medicare & Medicaid Services (CMS) regulates all laboratory testing performed on humans in the U.S. through the Clinical Laboratory Improvement Amendments (CLIA). Using these guidelines, the CID’s patient analyses are performed as CLIA-certified clinical tests, and results are generated within a timeframe that allows for direct patient care decision making.
The CID laboratory pursues retrospective and corollary research studies to support the expansion of its genotyping profiles. To accomplish these goals, the lab utilizes a number of molecular and cellular techniques, including fluorescent in situ hybridization (FISH), qPCR, DNA sequencing, SNP-based approaches and DNA sizing analyses. The combination of these approaches allows for the detection of somatic genetic aberrations on multiple levels, including gene copy number, point mutations and small deletions and insertions.
Both InterSystems and MGH are partner members of the Global Alliance for Genomics and Health, which was formed in 2013 to help accelerate the potential of genomic medicine to advance human health. The alliance brings together over 220 leading institutions working in healthcare, research, disease advocacy, life science, and information technology. The partners in the Global Alliance are working together to create a common framework of harmonized approaches to enable the responsible, voluntary, and secure sharing of genomic and clinical data.
“Dr. Iafrate is widely respected for his pioneering work in genomics research, and Mass. General Hospital has been a wellspring of health technology innovation, including the first programming language for doctors, which helped spawn a raft of health IT companies – including InterSystems. We are very proud that our technology platform is supporting this important work,” said Paul Grabscheid, Vice President of Strategic Planning, InterSystems.