In clinical use since 2005, GeneInsight was developed in collaboration with leading geneticists, laboratory operations personnel, practicing physicians and IT professionals.
The result is GeneInsight, a software solution which provides big data variant analysis pipeline, diagnostic laboratory knowledge-management, clinical provider access, and networking infrastructure.
The suite of applications includes:
GeneInsight Lab®, a laboratory tool to assist with variant annotation and filtration, knowledge management, and interpretative report generation.
GeneInsight Clinic®, a hosted clinician interface to enable delivery of patient genetic test results and future variant updates to clinicians.
GeneInsight VariantWire®, a networking infrastructure designed to enable high throughput transfer of structured genetic data between and among laboratories and clinicians.
2003 – The platform is developed
GeneInsight Inc. was developed at the Partners Healthcare Laboratory for Molecular Medicine (LMM), a CLIA-certified laboratory in 2003 to support the use of genetics in laboratories and clinical practices. Given the broad array of genetic tests performed by Partners’ laboratories, they needed a robust platform that would support the volume and complexity of tests performed and enable their vision that genetics could radically improve patient care now and in the future. This effort resulted in the creation of an efficient infrastructure to support genetic laboratory knowledge management and report generation.
With the increasing interest in and use of genetic information in the clinical setting, and the rapidly evolving body of knowledge associated with human genetic variants relative to every potential clinical indication, we recognized that clinicians need a means of managing their patient genetic profiles over time. Specifically, alerts are needed as new information emerges on variants after they are identified in patients. To meet this need, GeneInsight Clinic was developed.
It also became evident that no single institution would be able to support the massive costs and resources associated with maintaining, updating and fully annotating the rapidly evolving body of knowledge associated with human genetic variants and that these challenges would rapidly grow as the clinical community continues to move towards broader spectrum, and ultimately whole genome, sequencing. Providing clinicians with the best possible genetic interpretations would require a network of institutions. Furthermore, it would be important for clinicians and labs in the network to be able to exchange structured genetic information between GeneInsight Lab and GeneInsight Clinic resulting in the development of GeneInsight VariantWire.
2005 – GeneInsight is put into clinical use
From 2005 through 2016, GeneInsight software has been in continuous clinical use at Partners HealthCare Laboratory for Molecular Medicine.
2010 – GeneInsight is made commercially available to other labs
In 2012, GeneInsight was used as the model for the winning team of Boston Children’s Hospital International Genomics Competition. Starting in January 2013, Partners HealthCare Center for Personalized Genetic Medicine (PCPGM) began offering whole genome sequencing, one of only ten facilities nationwide to offer this service. Meanwhile, GeneInsight launched content integrations and Partners HealthCare and GeneInsight earned the 2013 Editors’ Choice Award for Technology Innovation in the Life Sciences.
2014 – Development progresses with help from Sunquest
In 2014, Sunquest Information Systems Inc. and Partners HealthCare announced a strategic alliance to accelerate genomic-based medicine. As part of the alliance, Sunquest became an investor and partial owner in GeneInsight Inc. with the goal of helping to expand the footprint of the software application to laboratories across the globe. In addition to the investment, Sunquest and GeneInsight agreed to collaborate on development efforts to expand genetic testing workflow capabilities and build seamless integration with other Sunquest laboratory solutions. Under this partnership significant new development is completed and GeneInsight is enhanced with capabilities to support somatic and inherited genetic testing.
2016 – GeneInsight makes plans for the next stage of growth
GeneInsight software has supported the interpretation and reporting workflow for more than 50,000 complex genetic tests across multiple diagnostic reference laboratories. In April 2016, Sunquest announced the acquisition of GeneInsight Inc. with plans to continue the full-scale commercialization of the GeneInsight software platform. Today, Partners Healthcare continues to collaborate with Sunquest as a development partner for the advancement of the GeneInsight platform.