VariantWire Adds New Members to its Data-sharing Network

The GeneInsight-powered platform advances molecular informatics initiatives

Oct 13, 2016

TUCSON, Ariz., October 13, 2016 – Sunquest Information Systems Inc. today announced that Nationwide Children’s Hospital Institute for Genomic Medicine Clinical Laboratory, MedComp Sciences and the University of Minnesota Health Fairview are now members of the VariantWire® data sharing initiative. GeneInsight®, a Sunquest company, supports the VariantWire networking infrastructure and crowdsourcing platform, which provides real-time sharing of structured genetic data between laboratories.

VariantWire offers clinical laboratories across the U.S. and Canada the opportunity to access information that can ultimately help toadvance the field of personalized medicine. It is a “share and share alike” initiative that allows users of the GeneInsight IT platform to share variant information.

“We recognize how important collaboration and sharing are to provide exceptional care to our patients, and exceptional trainingopportunities to our students and trainees at the University of Minnesota,” said Matt Bower, MS, certified genetic counselor at the Minneapolis-based University of Minnesota Health Fairview. “With this in mind, we are excited and honored to be part of the VariantWire collaborative effort.”

VariantWire differs from other variant data-sharing repositories that require manual input of data. Specifically, VariantWire leverages the GeneInsight platform, which works in the background to seamlessly share the data so that laboratory workflow disruptions are minimized.VariantWire is currently facilitating the sharing of over 44,300 variant interpretations across 1,865 genes that are associated with more than 300 diseases.

“VariantWire and its data sharing objectives align well with the goals and initiatives of our laboratory,” said Jason Walker, lead scientistfor the Baton Rouge, LA-based MedCompGx, LLC. “We are looking forward to participating in VariantWire and helping to advance the sharing of critical variant data.”

“We are excited to have Nationwide Children’s Hospital, MedComp Sciences and the University of Minnesota Health Fairview joinVariantWire” said Samantha Baxter, the director of VariantWire and a clinical project manager and genetic counselor at the Broad Institute. “These institutions are joining a network of individuals and labs that are committed to data transparency and understand that the sharing of genetic knowledge leads to better patient care.”

For more information on VariantWire, please visit


About GeneInsight

GeneInsight, a Sunquest company, provides a molecular informatics solution that streamlines the analysis, interpretation and reporting of complex genetic tests.  In constant clinical use since 2005, GeneInsight facilitates delivery of test results to treating clinicians so they can integrate genetics into their routine diagnostic workflows.  The hosted solution includes filtration, annotation and storage tools, along withnovel variant assessment, variant knowledge management and reporting capabilities.  GeneInsight is a wholly owned subsidiary of Sunquest Information Systems, a pioneer in laboratory informatics.

About Sunquest Information Systems

Sunquest Information Systems Inc. provides diagnostics informatics solutions to more than 1,700 laboratories. Since 1979, Sunquest hashelped laboratories and healthcare organizations across the world optimize financial results, enhance efficiency and improve the quality of patient care. The company’s singular focus on diagnostic innovation has delivered solutions that offer unique support for complex testing, enable community-wide connectivity and can be used at the point-of-care. Headquartered in Tucson, AZ with offices in the United Kingdom, United Arab Emirates and India, Sunquest is a global leader in healthcare information technology. For more information,

GeneInsight Promotes Information Sharing to Advance Personalized Medicine

VariantWire to Improve Collaboration and Data Sharing

Mar 27, 2014

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.


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 ( 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

Partners Subsidiary GeneInsight Launches Network to Enable Data Sharing Between Clinical Labs

Apr 26, 2013

Seeking to provide clinical laboratories with a data sharing environment, Partners HealthCare subsidiary GeneInsight has launched a network that will allow participating labs to use GeneInsight Lab — its variant knowledge management and reporting software — to transfer, track, and share information about genetic variants and their interpretations with each other.

According to the company, the GeneInsight Network is intended to help genetic testing labs keep abreast of new information about genetic variants’ significance and provide interpretive reports to clinicians that help them select optimal treatments for their patients.

Earlier this month, Sandy Aronson, executive director of information technology at Partners HealthCare Center for Personalized Genetic Medicine, and Heidi Rehm, the director of PCPGM’s Laboratory for Molecular Medicine highlighted the network in presentations at the Bio-IT World conference in Boston.

GeneInsight officially launched the network in January with Illumina and four founding labs that are serving as initial pilot sites for the deployment and implementation of a combined offering that integrates the functionality of Illumina’s MiSeq sequencing system and GeneInsight Lab. The founding labs are the PCPGM’s Laboratory for Molecular Medicine, ARUP Labs, the New York Genome Center, and Mount Sinai Hospital.

During the Bio-IT meeting, Aronson told BioInform that the founding members are currently working on defining the structure and polices that will govern the newly minted network before they begin offering membership more broadly at a yet-to-be-determined date later this year.

These new policies are necessary because although technologically GeneInsight’s infrastructure can support the network, its current governance structure supports “point-to-point” information sharing but not data sharing amongst multiple institutions.

Aronson said that the founding partners met for the first time at the American College of Medical Genetics’ Annual Clinical Genetics Meeting in March and that their initial discussions “went well.”

He declined to go into details about the outcomes of those talks explaining that the group is still formalizing its policies, however, “the goal is to as quickly as possible define this and then open it up to anyone else who wants to join,” he said.

When that happens, interested labs will need to license GeneInsight Lab — if they haven’t already — in order to participate. It’s available for an undisclosed fee, which covers access to the tool under a software-as-a-service model and technical support.

The company also offers GeneInsight Clinic software so that customers of genetic testing labs can receive test results electronically as well as updated information about variants as it becomes available.

GeneInsight Clinic is free to healthcare providers for now but that could change in the future, Aronson said. However, “we will work to prevent the costs of the software from becoming a barrier to use,” he added.

Other plans for the GeneInsight network include linking the infrastructure to the National Center for Biotechnology Information’s ClinVar — a public repository of genetic variants and their relationship to human health — to make it easy for participating labs to submit variant data to the database. They’ll also be able to integrate data from ClinVar into their reports.

GeneInsight also intends to add some new capabilities into its system including tools for assessing novel variants, Aronson said.

“We are working with a number of partners who have the capability to gather and aggregate information about variants” so that network participants can use this data to “formulate assessments about variants, record them in GeneInsight and then use them for their own reporting purposes,” he said.

One of those partners is Ingenuity Systems which announced last month that it was working with Partners’ GeneInsight to develop an integrated workflow solution that will include tools for annotating, analyzing, assessing, and reporting human variants from next-generation sequencing-based tests (BI 3/22/2013).

Other partners are not being named at this time.

From Genomeweb