Case Study – Indian research hospital

Challenge

The hospital needed a comprehensive, user-friendly analytical solution for solid tumor data obtained with next-generation sequencing (NGS). Confused by other solutions and recognizing their limitations in variant identification, the institution sought genomic applications that included molecular profiling as well as a detailed list of fusions.

Solution

A Scientific Officer at the hospital fell back on her NGS training experience at Henry Ford Hospital, Detroit, Mich. There, she’d been introduced to SOPHiA GENETICS. Because the SOPHiA Solid Tumor Plus Solution (STS Plus) has been designed to precisely assess and report 42 DNA-based variants and 137 RNA-based gene fusion events, the application became the default choice.

“The SOPHiA GENETICS team visited us in India to introduce the comprehensive molecular profiling coverage of STS Plus and demonstrated the SOPHiA DDM™ platform capabilities for secondary and tertiary analysis. The ease of use [in] uploading the data, the safety of the data [and] the security is certainly unique,” says the Scientific Officer. On top of the accuracy in detecting SNVs, large indels, gene amplification, MSI status and gene fusions, trusted third-party insights available directly within the SOPHiA DDM™ platform add convenience and value to the analysis for confident decision making.

The institution joined the global community of researchers and healthcare professionals on the SOPHiA DDM™ platform, retaining ownership of its data but safely sharing knowledge through secure aggregated data analysis that has the potential to improve research, diagnosis, treatment selection and future drug development.

“All the genetic alterations identified in each case get registered, which helps assessing the frequency of these variants in our cohort and globally. This feature is quite unique to SOPHiA GENETICS.” — comments the Scientific Officer.

SOPHiA GENETICS provides prompt response to support needs throughout the user experience, from data upload to analysis, interpretation and reporting.

Results

Microsatellite instability (MSI) and copy number variations (CNV) detection has helped the hospital’s researchers understand high variant allele frequencies and classify the variants. The team has validated SOPHiA Solid Tumor Plus Solution results by orthogonal gold standard methods.