Next Generation Sequencing is rapidly evolving the landscape of clinical research through new, data-driven approaches that require deeper analysis. But much like opening a flood gate, the total power of possibilities NGS brings can be overwhelming. With so much more data to manually sift through, it can take precious time before any actionable insights are gained from sequencing. By leveraging expertly curated evidence, powered by JAX-CKB, and SOPHiA GENETICS' patented algorithms through the SOPHiA DDM platform, users can then use OncoPortal™ Plus to accurately identify clinical associations and actionable biomarker profiles. With new customizable reporting templates, any lab can prepare state-of-the-art comprehensive genomic reports to match the preferences of their clients and oncologists. 

Actionable biomarker assessment

There’s a lot that can be learned from analysis that goes beyond simply mining a sample for all available information. We must consider how we review that large mass of data to determine what is important. Think of it like observing a painting at a museum. If you were to only slowly scan the corners of the Mona Lisa, you may miss the subtly in her smile or how she seems to glow in comparison to the background. Like art, some things are better observed with all minute angles taken into much larger consideration.

The larger portrait an analysis paints must be viewed through multiple filters, like lenses with varying scopes of biomarker assessment and scrutiny. For example, a single variant discovered among the data may indicate a possible treatment option, but another biomarker in that sample may contradict its usefulness as a viable therapy. By only offering a micro-glimpse into individual datapoints, traditional/manual reporting is not automatically showing the macro-effect of what that data means as a whole. 

Through molecular profiling, OncoPortal™ Plus doesn’t just identify individual variants, it works with you to better classify and interpret co-occurring biomarkers, including wild-type genes, that give researchers a wider, more accurate portrait of options in reporting. This allows for better decision making, eliminating redundant entries that could lead decision-makers down the wrong paths and waste valuable time.

Flexible push-button reporting

With AMP/ASCO/CAP classification of biomarkers, including Tier III (VUS), OncoPortal Plus combines your (secondary) analysis results with the SOPHiA DDM platform knowledge base to allow you to prepare genomic reports with detailed biomarker descriptions. The new, intuitive format displays actionable biomarkers, approved therapies, and a summary of relevant biomarkers that may play further roles in decision making. All of this can be customized with templates that meet the needs of the individual user. 

Custom report templates in the Template Manager give plenty of room for molecular labs to configure their genomic reports to match the various needs and preferences of their clients. Combining the power of the SOPHiA DDM Platform with OncoPortal™ Plus then helps the user to interpret genomic findings for your final reports. Once this feature has been utilized in-house, much of the work can be done with just a click, avoiding having to rely on send-out reporting. 

Our new offering comes with constantly improved security and technical support, getting you up and running to quickly match your compliance needs. If you’d like to learn more about our products or catch a demo with an expert, just click here and contact us today. 

2021 has been quite a year for us at SOPHiA GENETICS. We’re rounding out a full decade of significant growth since we began at EPFL with just a handful of people in a 10 square meter room back in 2011. Now, we’re opening expanded office and R&D capabilities around the world for hundreds of employees who work hard every day to bring our mission and values to life. These are a few of the most notable moments from this substantial year for our company…

Expanding the portfolio

We kicked off 2021 with the announcement of three blood cancer solutions, greatly expanding the coverage we can offer by targeting DNA or RNA to detect any molecular biomarkers. Our blood cancer portfolio gives more in-house options to labs of all sizes based on their needs.

In the spring, we released SOPHiA DDM^TM for TSO500, designed to maximize the utility of the Illumina TSO500 assay. Early adopters said that this solution helps them to easily see the variant filter and rapidly evaluate the significance of specific mutations.

SOPHiA GENETICS launched a new Clinical Exome Solution in October, which allows us to elevate the statistical power of the data. Rare and inherited disorder analyses benefit from enhanced detection capabilities within the entire mitochondrial genome.

Our latest product launch stems from our partnership with Agilent, extending SOPHiA DDM™ Universal Whole Exome analytical capabilities to include SureSelect Human All Exon v8 by Agilent. This solution optimizes for Agilent-specific sample data to be further analyzed and studied within the universal SOPHiA DDM^TM platform.

IPO & collaborations

In early July, we announced our plans for an initial public offering (IPO), officially listing as SOPH on the NASDAQ by the end of that month. We successfully raised $234 million to help us further democratize Data-Driven Medicine globally. This was a major step forward for our company’s growth.

Before that great accomplishment, we were already in discussions with some of the largest biotechnology firms in the world to create lasting partnerships. These partnerships will help drive shared success and evolve the use of multimodality. Multimodality combines multiple sources of medical data that can be enhanced with AI, generating more actionable insights for clinicians and medical researchers.

Our partnerships included teaming up with the Spanish Lung Cancer Group in February to explore predictive potential of multimodal health data in resectable stage IIIA non-small lung cancer. In March, we announced our long-term collaboration agreement with Hitachi to unlock the potential of multimodal health data.

Since our IPO, we’ve reported how we’re working with more than 780 medical institutions around the world. This included a recently expanded partnership with Dasa for the first decentralized cancer biomarker detection solution in Latin America.

We announced an agreement with Agilent to expand co-marketing of our new end-to-end solution, which automates NGS library preparation and analytics processes for cancer research.

In early July we signed a letter of intent with GE Healthcare to match multimodal patient data and cancer types. We officially announced the collaboration recently at RSNA where we co-hosted a comprehensive symposium about the role of the Radiologist and their use of emerging clinical technology as part of the healthcare revolution.

On the horizon

As I’ve mentioned earlier this year, we continue to invest heavily in research and development. This includes the recent launch of our DEEP-Lung-IV multimodal clinical study. It will leverage deep learning-enabled analysis of the aggregation of multimodal clinical, biological, genomic, and radiomics data to identify and validate predictive signatures associated with response to immunotherapy and prognosis of patients with metastatic non-small cell lung cancer. Our goal is to enroll 4,000 patients from approximately 30 sites across North America, Europe, and Latin America.

SOPHiA GENETICS will continue to enhance medical research capabilities around the world as we enter a new year with great momentum and determination. If you’d like to learn more about our progress, I invite you to join our journey by following our social media pages and signing up for our monthly newsletter below.