In the fall of 2014, Boston-based Partners Healthcare and the Tucson, Ariz.-based diagnostic IT solutions company Sunquest Information Systems announced a joint collaboration with the aim to accelerate genomic-based medicine. At the core of the relationship is a strategic investment by Sunquest into GeneInsight, Inc., an IT platform company owned and developed by Partners over the last decade. The platform streamlines the analysis, interpretation, and reporting of complex genetic test results.
Partners is a majority shareholder in GeneInsight, and when the 2014 announcement was made, officials from the organizations noted that Sunquest and Partners have a shared vision for clinical genomics, with the goal of developing a next-generation genomic information system and knowledgebase that will speed the advent of precision medicine. “With this relationship we will be able to bring new genomic knowledge to treating clinicians much more rapidly, advancing the field of personalized medicine and ensuring that our patients, and patients worldwide, will benefit from the most up-to-date genomic information available at the point of care,” Anne Klibanski, M.D., chief academic officer at Partners HealthCare, said at the time of the collaboration.
Now that the tool is fully developed, Partners recently announced that it is looking to sell GeneInsight to hospitals and labs around the world, “hoping to tap into the emerging market for genomics and generate more money to support operations and research at Partners,” according to November report from the Boston Globe. The report noted that Partners will sell GeneInsight to Sunquest, which then will market the technology. Partners will earn royalties from the sale, the Globe said, adding that the global market for genetic sequencing is growing at double-digit annual rates and is expected to reach $2.8 billion by 2018, according to consulting and research firm Frost & Sullivan.
Indeed, the technology has been developed to integrate genomic information into the pathology workflow, and into hospital and health system electronic medical records (EMRs). Integrating this genetic information into the practice of medicine in a robust and timely manner is challenging, however, as the complexity of the genomic interpretation process allows for only a small fraction of data to be accessible to researchers and clinicians, according to experts at Partners.
To this end, Sandy Aronson, executive director of information technology at Partners, recently spoke with Healthcare Informatics about these challenges, how the partnership is working so far to improve access to genetic data at the point of care, and what the future holds for integrating genetics into healthcare. Below are excerpts of that conversation.
What is the concept behind the GeneInsight platform?
The central concept behind GeneInsight is that we, as a community, have constantly gotten better and better at the sequencing technology that underlies identifying variance in patients. For a long time we have known that the interpretation of those variances is a very critical step that needs to be managed well in order for all of this sequencing technology to yield significant benefits for patients. When genetic tests are launched, within the research enterprise there is a discovery made that links a gene or a set of genes to a clinically important fact where clinicians would want to be able to determine which of their patients have genetic variations that links them to his fact. This could be a predisposition to a sudden cardiac death, for instance.
When that research occurs and papers are published, and there are decisions made by clinical labs that say, ‘Okay, this is significant enough where we should launch a clinical test,’ and the labs then start sequencing patient genes. When the research enterprise says that a gene is linked to a clinically relevant fact, what they’re actually saying is that they have identified variance within a gene. When you sequence patients, you’re literally reading all of the letters associated with the relative parts of a gene, and you’re going to find variations that weren’t initially seen in the research. This is happening in the clinical context and you have to decide what to do with them. Through the clinical process itself, you will likely develop better data that may help you refine and better understand the interpretation and significant of those variances.
Can you give examples of what researchers are looking for to help clinicians?
We do an inherited heart disease panel, and there you have some instances where sudden cardiac death runs in the family. Sometimes you will have really healthy people who will experience sudden cardiac events and die, and there is a genetic predisposition to it. Underlying that, there are a large number of different genes, any number of which can contain a mutation that puts a person at risk for this. If you can identify within a family the specific mutation that is putting that family at risk, being passed down through generations, or not passed down, once you have that knowledge, you can go and look at each member of that family and say if he or she is at risk or not at risk. Either you’re just like the general population, or you’re at risk like your previous family members were.