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Saphetor Partners with ICON to Develop Innovative Data-centric Approach to Precision Medicine Clinical Trial Strategies to Help Support Unique Patients


Saphetor SA today announce that it is partnering with world-leading healthcare intelligence and clinical research organisation ICON to develop an innovative approach to support the planning and execution of clinical trials in the precision medicine and rare diseases space. The companies are exploring how Saphetor’s variant interpretation platform can be further leveraged in terms of the epidemiology, prevalence and location trends of genetic mutations, thereby supporting patient recruitment and overall clinical trial strategy.

Saphetor has developed VarSome Insights, a precision medicine service enabling clients to leverage search data as part of an omnichannel approach to executing powerful clinical trial strategies. With active users in over 150 countries, across 6 continents, is a tool relied upon by healthcare professionals (HCPs) and researchers around the world looking for comprehensive information connected to genetic variants of interest.

Saphetor will work with ICON to explore the potential of VarSome Insights in 4 ways:

Patient recruitment: users are given the option to opt-in to have their data shared with relevant third parties managing relevant clinical studies. Over 80% of’s community of research and healthcare professionals have consented. Contact is made with the user when one of their search queries matches the enrolment criteria of an approved clinical study. If they have a patient who might benefit from the study, they can then work independently with the clinical study enrolment team to introduce it to the patient.

Disease awareness and education: provides additional information on disease causing variants, including general educational materials for common misdiagnoses and information on actively recruiting clinical trials and studies. This information helps shape clinical trial protocols and recruitment strategies.

Site selection: search metadata also includes the geographic location of a variant query. This information allows ICON to inform clinical site selection based on hotspots with a high concentration of potential cases. As this information is based on live search query data from HCPs, this is often pre-diagnosis.

Prevalence mapping: Recent studies have demonstrated VarSome Insights’ power and cost-effectiveness as a disease prevalence mapping tool. Search query data provides a map equivalent to that generated by mapping published cases. However, as is a globally accessed platform it also identifies prevalence in countries less able to publish in scientific journals. This can help in identifying additional locations for participants in clinical trials.

Together, ICON and Saphetor are working towards improving the power and cost-effectiveness of clinical trial planning and execution, making it easier for HCPs to receive the latest information about relevant diseases and to help their patients be made aware of trial and study opportunities.

Travis Caudill, Vice President of Feasibility and Clinical Informatics at ICON said: “We’re pleased to be collaborating with Saphetor to explore the potential of Varsome in delivering really significant data that will support the effectiveness of rare disease clinical trials. The more meaningful data that we can use to inform clinical trial strategies, the more meaningful progress we can make. It’s a great example of how different players in the industry can come together and use their combined skills to look at how we can innovate and evolve clinical research for the better.”

Maarten Kempen, Chief Commercial Officer at Saphetor said: “Saphetor is excited to partner with ICON in this collaboration. Both organisations are committed to improving patient lives and recognise the potential to do so by leveraging the data generated by users - the majority of whom are using the platform to help diagnose patients. We have already developed some exciting applications of VarSome Insights together, and we look forward to innovating further together.”

ICON provides outsourced services to pharmaceutical, biotechnology, medical device and government and public health organisations. With headquarters in Dublin, Ireland, ICON employs approximately 41,160 employees in 53 countries.


About Saphetor SA
Saphetor SA, is a global precision-medicine company dedicated to large-scale identification and interpretation of human genetic variants by leveraging proprietary algorithms and expert domain knowledge.

Saphetor is the creator of VarSome, a suite of intuitive and data-driven bioinformatics solutions both for clinicians and researchers. professional community and search engine is freely accessible, featuring a widely-recognised community-driven knowledge base that enables flexible queries across more than 140 genetic and genomic data resources.

VarSome Premium and VarSome Clinical are professional editions of VarSome with powerful functionality and further sophisticated data-mining and analysis tools. VarSome Clinical certified decision support platform allowing fast and accurate variant discovery, annotation, and interpretation of NGS data for whole genomes, exomes, and gene panels, which helps clinicians reach faster and more accurate diagnoses and treatment decisions for genetic conditions. VarSome can also be integrated into existing in-house pipelines via VarSome API through cloud-based or on premises installations.

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