How SOPHiA GENETICS Leverages Rhapsody to Revolutionize Genomic Data Interpretation

When handling medical information, human error can be a matter of life and death. Manually inputting data makes such errors inevitable. Healthcare organizations handle large, complicated datasets every day. As those records continue to grow, the manpower necessary to consolidate that data from multiple sources and convert it into a clinician-friendly format becomes unsustainable.

SOPHiA GENETICS, a leading AI company, recognized the need for a technology solution to automate their manual processes. By partnering with Rhapsody, they’ve streamlined the interpretation of complex genomic data and expedited reporting, ultimately enhancing patient care.

Introducing SOPHiA GENETICS

SOPHiA GENETICS processes data from multiple sources and modalities, including Next-Generation Sequencing (NGS) data. Since its inception, SOPHiA GENETICS has analyzed over 1.8 million genomic profiles. Their platform uses sophisticated AI to call, annotate, and pre-classify genomic variants, providing clinicians with critical insights into a patient’s genetic makeup.

SOPHiA GENETICS transforms raw genomic data into concise, readable formats that produce actionable insights for clinicians. is the biggest hurdle to making the transition from raw data to clinically relevant information? The sheer volume of data they need to process. A single patient’s genome sequence can take up to 20 gigabytes.

SOPHiA GENETICS, headquartered in Rolle, Switzerland, originally relied on JSON scripts and manual inputs. The time it took to onboard customers took too long for them to scale effectively. They wanted to connect their platform to a broader, global market, particularly in the United States. Perhaps more importantly, they needed a technology partner with the tools and expertise to truly provide integration as a service.

Choosing the Right Integration Solution

One of the first decisions a healthcare organization must make when scaling their infrastructure is whether to buy or build. SOPHiA GENETICS quickly realized they needed an expert in integration and data quality such as semantic interoperability. They wanted to make sure whoever they partnered with would be able to tailor the solution to any kind of data type or system they might be connected to, like Epic electronic health record (EHR) systems.

Rhapsody Digital Health Enablement Platform, with its flexible API-enabled integration, identity, and semantic solutions, stood out from the rest. Rhapsody can be used in any country around the world. It was also important to SOPHiA GENETICS to have a support network when implementing this technology–a true partner and not just a vendor.

From Sequencing to Interpretation: The Technical Workflow

A bioinformatics pipeline compares patient genomes to a baseline, highlighting disease-linked mutations. SOPHiA GENETICS automates sequencing from laboratory information systems (LIS) and EHR orders. Rhapsody pairs these sequences with order data, speeding up what was once a manual process, giving clinicians quicker access to crucial information.

The resulting output messages are discretely formatted variant-level information, which can be exceptionally complex. Based on the type of variant identified, the structure of the message itself will be different.

Bridging Genomics and Clinical Practice

Ultimately, SOPHiA GENETICS gained some key advantages from their partnership with Rhapsody:

Efficiency

By automating manual processes, the SOPHiA DDM™ Platform saves time and boosts productivity. Users can focus on high-value work, as opposed to redundant and laborious data entry.

Scalability

After implementing this new technology, the number of genetic samples that SOPHiA GENETICS can analyze and process in a given time frame increased significantly, which is crucial for large-scale genomic studies and clinical applications. Automated processes are a necessity for more advanced genomic testing modalities with larger data and batch sizes.

Accuracy

By decreasing the amount of manual data entry points, Rhapsody technology has reduced human-error. Not only that, but the resulting output makes it easier for clinicians to interpret results with a higher degree of accuracy.

Looking to the future, SOPHiA GENETICS is using this technology to predict patient outcomes for different treatment plans in advanced cancers. Clinicians will be able to prescribe optimal treatment based on an individual’s genomic profile. By leveraging Rhapsody integration and data quality solutions, SOPHiA GENETICS can focus on what they do best: developing advanced genomic analytics that empower clinicians with actionable insights.