Historically, genomic sequencing has been widely used in research settings for population-scale data-driven insights. With the increase in the availability of genomic data, genomics can also now be leveraged to derive actionable health insights at the individual level, unlocking the promise of precision medicine. When integrated with AI-based analytics and other health data streams, it can be used to unlock deeper, personalized, and actionable information for better care options and early intervention in the patient journey. This includes determining the pathological features of cancers, precision medicine, and identifying rare diseases before symptoms manifest. Despite this huge potential, genomic testing remains largely underutilized, due in part to a lack of continuity between genomic analysis and integration with healthcare systems and care delivery decisions. The hesitance toward adoption is also driven by inertia in integrating a new approach into existing clinical workflows and a perception that genomic testing is still largely academic. Additionally, many still view genomics as a stand-alone technology, without considering how it might be integrated with other existing tools to provide more value to the patient.
Many new and emerging startups are, however, looking to plug this gap. SOPHiA Genetics is one such company. It develops a SaaS platform that serves to integrate genomic testing into traditional care decision-making. This insight takes a look at how SOPHiA Genetics utilized genomic sequencing to optimize the patient experience in healthcare and improve outcomes using the three-step methodology outlined in the recent Lux report "Seeking New Business Opportunities by Identifying Gaps in the Patient Journey."
Figure 1. Identifying pressure points using our three-step methodology. SOPHiA Genetics was able to take advantage of the benefits that genomic testing offers (Step 1: identify gaps) along the patient journey, as it offers the potential for actionable information, which can supplement care between healthy individuals and prescribing treatment.
The challenge that typically impacts the patient experience is that genomic information is not uniformly accessible to care providers throughout the patient journey but rather asymmetrically consolidated in remote systems that are not connected to health records (Figure 1). This leads to unnecessary retesting or a lack of consideration of previously available genomic information about the patient when developing a plan of action for care. The company addressed this by developing a solution that would add genomic testing into decentralized records and be used to address patient care decisions without retesting.
SOPHiA Genetics' analytics platform incorporates multimodal datasets using AI to enable the predictive modeling of diseases and treatments. Diagnosticos da America (DASA), a medical diagnostics company in Latin America, uses SOPHiA's platform to analyze the data collected from its genetic sequencing program to orient patients toward personalized medicine in oncology. Informed by biomarkers and genetic information derived from the platform, DASA claims it was able to accelerate clinical trial recruitment, expand its genetic testing initiative, and make more informed decisions throughout the patient care journey. GE Healthcare recently announced a collaboration with SOPHiA Genetics, in which the company plans to leverage its imaging platform with the genomics platform. The initiative not only seeks to further tailor cancer therapies through the sharing of patient data and streamlining accessibility but also provides deeper insights earlier on in the patient's journey to better treat and manage their condition.
Thus, it is important to view genomics as not just a stand-alone technology but one that can be bundled with existing healthcare products and services to add more value by taking into account how genetic factors may influence the treatment as well.
Genomics has always been a vital part of medical research in population-scale analytics; however, there is great potential for the technology at the individual level through personalizing healthcare decisions for better outcomes, earlier detection of risk factors and diseases, and faster access to care. SOPHiA Genetics addresses the gaps in patient care by providing insights into the earlier stages of the patient journey by accounting for genetic risk factors that might impact treatment. Companies like GE Healthcare are already partnering with SOPHiA Genetics to plug these gaps. Clients should note the growing trend of genetics being integrated with traditional data streams like health records, wearables, and medical devices in order to derive actionable health insights, which can provide more holistic solutions for patients.