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.