BOSTON--(BUSINESS WIRE)--Partners HealthCare and GeneInsight® announced that a clinical consortium, originally piloted in 2013, is now actively sharing data in real time, offering clinical laboratories across the U.S. and Canada the opportunity to access information that can ultimately help to advance the field of personalized medicine. GeneInsight, which supports reporting and knowledge management for genetic testing laboratories, is enabling this secure data sharing and collaboration among participant members through a ‘share and share alike’ networking philosophy.
The consortium, now known as VariantWire®, leverages a structured ‘crowdsourcing’ mechanism, supported by GeneInsight to assist laboratories interpret the significance of genetic variants found in clinical patients. The secure data shared as part of VariantWire includes variant information interpreted in a translational or clinical setting but does not include identifiable patient information.
"The clinical meaning of genetic variants is constantly changing. At Brigham and Women’s Hospital and Massachusetts General Hospital we strive for the highest quality care for our patients. In order to do so, we must have robust ways to share what we know, as soon as we learn it,” said Heidi Rehm, PhD, Chief Laboratory Director, Partners HealthCare Laboratory for Molecular Medicine.
Participants
The VariantWire founding members,
including Partners HealthCare Laboratory for Molecular Medicine (LMM),
ARUP Laboratories, and Mount Sinai Genetic Testing Laboratory at Icahn
School of Medicine in New York, were recently joined by Mount Sinai
Hospital in Toronto and the Canadian Open Genetics Registry (COGR). COGR
is a consortium of Canadian clinical laboratories dedicated to jointly
developing and maintaining a unified Canadian clinical-grade genetic
database, based on GeneInsight technology, which draws from the genetic
holdings in place at clinical labs and hospitals across Canada. The
laboratories already contributing data to VariantWire are sharing over
18,500 variant interpretations across 4,500 genes associated with over
60 diseases.
Early successes
The first real-time data sharing
among VariantWire participants began at the end of 2013 and the effect
of this collaborative model has already influenced patient results.
Recently, an FBN1 variant of unknown significance was re-classified to
benign when data accumulated by ARUP Laboratories and the LMM was
merged, providing both laboratories with more information and thus a
stronger argument that the variant in question was not disease-causing.
“Although this particular variant was novel to our laboratory, we were
able to see the LMM’s evidence and classification,” explained Elaine
Lyon, Medical Director at ARUP Laboratories. “Knowing another
laboratory’s experience with a variant in conjunction with your own data
provides additional context and thus confidence in a final
classification.”
As with any instance of data being shared across institutions, there are ethical and legal concerns that must be addressed. Data stewardship, including policy development and oversight of data shared through VariantWire falls to the network governance committee, comprised of one voting member from each participating laboratory. This committee reviews all applications of laboratories seeking to join the network. All participating laboratories continue to retain control over their own data, choosing which variants they plan to contribute to the broader network. “We feel it is important for all participating laboratories to have a voice in this process,” explained Sandy Aronson, Executive Director of Information Technology at Partners HealthCare Center for Personalized Genetic Medicine. “It is important that the goals and policies of the network align with each network member’s existing institutional policy on data sharing. But even beyond this, we have found network participants think deeply about how to construct the best policies to optimize patient care, which is the ultimate purpose of this infrastructure.”
The idea of sharing data across laboratories is gaining traction in the genetics community with increasing efforts to compile public databases of clinical variants. Jordan Lerner-Ellis, Head of Advanced Molecular Diagnostics at Toronto's Mount Sinai Hospital and Co-Principal Investigator of the COGR project, detailed how VariantWire goes one step further, “The COGR project’s data sharing on VariantWire differs from most other initiatives in that it allows for real-time sharing and consensus building of genetic data resources in a more systematic, robust, and community-wide basis.” He further adds, “We are pleased to be working with many other international efforts with similar objectives and believe that this project will make a very significant contribution to knowledge translation, lead to advances in research, reduce the cost of genetic testing, and ultimately improve patient care.” The GeneInsight team also looks forward to working with network members interested in submitting data to ClinVar to enable the broadest possible information sharing. ClinVar is a NIH funded initiative to develop a robust, public, annotated database of genotype-phenotype information.
The VariantWire members invite other interested clinical laboratories to join the network and start contributing to the advancement of patient care.
About GeneInsight, LLC
GeneInsight LLC (www.geneinsight.com)
is a wholly owned subsidiary of Partners HealthCare. GeneInsight Suite®
was developed by Partners HealthCare in collaboration with leading
geneticists, laboratory operations personnel, practicing physicians, and
IT professionals. GeneInsight has been in clinical use since 2005 and
has supported the interpretation and reporting workflow for more than
35,000 complex genetic tests across multiple diagnostic reference
laboratories, including Partners HealthCare Laboratory for Molecular
Medicine.
About Partners HealthCare
Partners HealthCare is an
integrated health system founded by Brigham and Women’s Hospital and
Massachusetts General Hospital. In addition to its two academic medical
centers, the Partners system includes community and specialty hospitals,
a managed care organization, community health centers, a physician
network, home health and long-term care services, and other
health-related entities. Partners is one of the nation’s leading
biomedical research organizations and a principal teaching affiliate of
Harvard Medical School. Partners HealthCare is a non-profit organization.
