GeneInsight Inc. today announced a relationship with Brigham and Women’s Hospital (BWH) to integrate high-quality cancer content with GeneInsight functionality to make complex genetic test interpretation easier and more accessible to laboratories everywhere. 

Over the last several years, BWH and Dana-Farber Cancer Institute have developed a vast cancer mutation knowledgebase through rigorous research initiatives and clinical applications. Working collaboratively, BWH and Dana-Farber have carefully curated cancer variants and the associated classifications from thousands of clinical cases. Through this new relationship with GeneInsight, somatic testing labs can access this content within their own case interpretation workflow; making precision medicine and complex genetic testing more attainable for labs with a limited pool of geneticists and pathologists. At the same time, it will improve delivery of care for patients and decrease the cost of care through more efficient interpretation of critical cancer tests.

“The challenges faced by genetic testing laboratories are getting more complex,” said Neal Lindeman, M.D., Director of Molecular Diagnostics, BWH, and Associate Professor of Pathology, Harvard Medical School. “Labs need access to sophisticated IT systems and up-to-date, accurate information regarding the clinical significance of genetic variants identified in patients through testing. Further, they need to understand how test results will impact treatment decisions which are increasingly informed by the genetic profiles of individual tumors. Moreover, genetic testing for inherited diseases and genetic testing for cancers are profoundly different; each having a unique set of IT needs and requiring access to a different base of knowledge to support test interpretation and reporting.”

Limited access to highly-annotated and transparently-sourced content has hindered laboratories in their efforts to leverage next generation sequencing. Clinical laboratories require access to high-quality content, preferably clinically validated and evidence based information that is not widely available today. The data that is available through various public and commercial databases is often siloed with few parameters to ensure quality. Additionally, a 2013 report published by the American College of Medical Genetics and Genomics, warns that few, if any, of these databases are curated to a level necessary for clinical use.
 
“It is our belief that IT solutions must empower laboratory and clinical professionals to network, share and continuously improve knowledge about the genetic variants identified in patients,” said Sandy Aronson, Executive Director of IT for Partners HealthCare and an officer of GeneInsight. “To this end, GeneInsight is committed to addressing the content gap through participation in national data sharing efforts like ClinVar, by establishing its own data sharing network called VariantWire, and through meaningful relationships with leading academic institutions like BWH.”

BWH and GeneInsight have an ongoing relationship to further define enhancements to the software to meet the needs of the continuously evolving cancer field. Working closely with Sunquest Information Systems, the laboratory information systems provider for BWH and the larger Partners HealthCare system, including Massachusetts General Hospital, GeneInsight seeks to provide seamless genetic testing workflow capabilities to clinical geneticists and pathologists focused on oncology. 

GeneInsight is additionally supported through a strategic alliance formed in 2014 between Partners HealthCare and Sunquest to accelerate genomic-based medicine.