As an early adopter of our innovative technology, Protean BioDiagnostics’ President/CEO explains how his lab has already benefited from analyzing complex datasets with SOPHiA DDM™ for TSO500.

“Precision medicine is changing quickly. It’s getting more complicated. But it’s amazing to see how far we’ve come in a short time working with SOPHiA GENETICS,” explained Dr. Anthony Magliocco, President and CEO of Protean BioDiagnostics during a virtual discussion. “Our expertise is in tissues management and integration of data. We have to work with other experts and collaborate with them to fill gaps in our ability.” For this reason and others, Protean has worked with SOPHiA GENETICS to fill those gaps and further enable research possibilities for the clinical research experts they serve.

Protean BioDiagnostic’s vision is to bring precision medicine to all patients, regardless of where they live. That includes empowering community cancer centers and smaller labs (sometimes in very remote areas) that traditionally lag behind in developing digital workflows. Their patients could greatly benefit from the latest and greatest technologies. This is where the two companies have common goals, to evolve the landscape of medical research through Data Driven Medicine.

“SOPHiA DDM™ is a knowledge management system. It's able to help us curate the data and is continuously updated with connections to world databases. It’s a very important tool for us and our partners to simplify the analysis of complicated data. It allows our customers to better analyze the results from genomic profiles as well as clinical trial matches, which I feel is an often-unmet need in research,” said Dr. Magliocco.

Not every hospital system or regional lab has the storage capabilities for large sets of data that are generated with more comprehensive panels and testing. For this reason, the two companies’ shared goal of providing smaller labs advanced tools comes with options for cloud storage that are highly protected. Data storage security is a major priority for SOPHiA GENETICS users. We ensure that they are getting HIPAA and GDPR compliant storage capabilities no matter how large or small their lab may be.

“I’ve known SOPHiA GENETICS for a long time,” said Dr. Magliocco. Protean BioDiagnostics had an existing bioinformatics partnership with the SOPHiA GENETICS team and they signed on as an early adopter of SOPHiA DDM™ for TSO500 within the past year. “I became more interested recently with the work they’re doing with large panels. You're dealing with DNA and RNA and now you also have to deal with other markers in the DNA like tumor mutational burden and micro satellite instability. To be able to visualize it and report it back quickly and accurately makes this a very powerful tool. I’m also impressed by the experience of their bioinformaticians and their approach. They’re always trying to move forward. You know that the product will not be the same in a year or two, that it will improve. It’s a true partnership. I’ve been privileged to make suggestions from a user’s experience, and they actually make those new features available.”

The aim of improving technologies for SOPHiA GENETICS partners is to offer deeper, more accurate analysis. Larger panels may cast wider nets, but optimization with patented algorithms through our universal platform gives more actionable insights without sacrificing data quality.

“The real problem is integrating the data, putting it together, and giving it back to them in a way that's manageable so that it can actually guide treatment,” said Dr. Magliocco. “With the Bioinformatics provided by SOPHiA GENETICS, you’re able to pull together tens of thousands of variants, sift through them all, and get the ones that are meaningful. They highlight the significant data with reporting in a way that makes sense, while still allowing you to ‘open up the hood’ and look further, to see where this reporting comes from. They simplify the reporting, but I know that the complex data is still there if I have to go back and look for more answers. This is a great tool for further research.”

SOPHiA DDM™ for TSO500 is a fully integrated bioinformatic workflow (FASTQ to Report) for Illumina TruSight™ Oncology 500 panel. The SOPHiA DDM platform combines analytical performance with streamlined interpretation of complex genomic variants in the context of comprehensive genomic profiling.

Contact us today to book a demo and learn more.

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.