GeneInsight – Timely, Actionable, Impactful

Partners HealthCare Spin-off, GeneInsight, makes personalized medicine a reality for patients throughout the United States.

Dazzling discoveries in genomics and genetics are ushering in new possibilities for precision medicine. But simmering beneath the surface of this excitement is a layer of uncertainty: As researchers expand the list of disease-associated genes, laboratories are debating the best ways to interpret and report this information. On the front lines of clinical care, physicians question how to integrate these complex findings into routine practice.

These challenges inspired Partners leadership to establish a joint center in the early 2000s – now known as Partners HealthCare Personalized Medicine (PPM). Today, GeneInsight, a Partners spin-off powered by clinical and information system innovators and additional world-class experts, has abolished many of the initial barriers to supporting personalized medicine via their three-part software solution, the GeneInsight Suite®.

The software – connected to Partners’ hospitals, labs, and electronic health records since 2006 – helps laboratories manage the steady influx of knowledge about genetic variants; ensures that clinical providers deliver accurate and up-to-date test results; and provides a networking infrastructure that allows laboratories and clinicians to share clinically relevant and actionable genetic information.

Sunquest Information Systems intends to acquire GeneInsight in the future, expanding the technology’s reach and bringing these benefits to a broader patient population. “This type of technology will enhance utilization of critical clinical information by electronic health records,” said Matthew Hawkins, president, Sunquest. “This collaboration is perfectly aligned with our product vision and strategy. Sunquest wants to enable precision medicine by delivering solutions to make molecular and genetics-based diagnostics the standard of care, accessible in all clinical labs. We have said all along that our systems must capture, discretely store, and provide decision support on genomic variant data. GeneInsight is built to do exactly that. With GeneInsight and a long term collaboration with Partners, Sunquest is building a next generation genomics system that will reduce the cost and complexity of precision medicine. It is a great example of the innovative way Sunquest is bringing new solutions to our clients.”

“Everyone talks about the benefits of certain drugs or diagnostics based on the use of genomics and genetics in clinical practice. But the clinical utility of that information depends on robust IT systems that allow clinicians and patients to use that information in an actionable way,” says Trung Do, Executive Director of Business Development at Partners HealthCare and a member of GeneInsight’s Executive Management Team.

Key to GeneInsight’s success, according to Do, is their history of bringing together leaders across the Partners hospitals in genetics, laboratory operations, clinical practice, and health care IT – areas critical to the generation of electronically structured genetic results that can be incorporated into an electronic health record and used in clinical decision support.

“It is important for clinicians to know that when they order a genetic test, they will be able to understand, store and manage the result over time. GeneInsight helps address these issues by robustly transferring reports in structured electronic form from the laboratory environment to the Partners EHR ecosystem, organizing the results in the EHR as they arrive, and providing clinicians with alerts when the laboratory reclassifies a variant in a manner that could potentially change its interpretation for one their patients,” says Sandy Aronson, Executive Director of IT for Partners HealthCare Personalized Medicine (PPM) and a member of GeneInsight’s Executive Management Team.

Genetic testing often produces results of unclear significance, meaning that a patient might carry a gene that differs slightly from the norm, but pathologists and geneticists aren’t sure if that’s a good or a bad thing. Those patients might come back one year later for repeat genetic testing, at which time the physician might consult with the laboratory to determine if new information about that genetic variant is available. GeneInsight’s alerts help automate this process.

“Keeping up to date with accurate knowledge of genetic risk is critical, particularly for conditions like hypertrophic cardiomyopathy or other causes of sudden cardiac death, where a patient may die suddenly,” notes Heidi Rehm, PhD, Chief Laboratory Director, Laboratory for Molecular Medicine – PPM, and an Associate Professor of Pathology at Brigham and Women’s Hospital (BWH) and Harvard Medical School (HMS).

When laboratories learn new information about a genetic variant, the GeneInsight software automatically updates every report and alerts clinicians who previously ordered the genetic test, allowing clinicians to access the network and view the updated result along with supporting scientific evidence.

The VariantWire network, a Share and Share Alike system for laboratories using GeneInsight software, allows laboratories to share knowledge, crowd source variant interpretation and boost the collection of evidence for millions of rare disease variants that can impact patient health. “This is critical for laboratories trying to manage the vast amount of genetic knowledge need to support genomic medicine,” says Rehm.

As health care provider systems strive to develop new ways of incorporating genomics information into clinical practice, GeneInsight’s story highlights the key role of cross-disciplinary teamwork.

“The power of collaborative innovation can produce amazing results for patient care and also drive commercial interests,” says Do. “At the end of the day, when people talk about collaboration in our health care system, this is where we have three very different groups coming together to do something quite unique.”