SOPHiA GENETICS, a cloud-native software company in the healthcare space and a leader in data-driven medicine, announced that Acutis Diagnostics, a specialized medical laboratory, will use SOPHiA DDM to develop a new genomic assay. This new next-generation sequencing (NGS) test aims to build on Acutis Diagnostics’ record of approved lab-developed tests that support clinical trials, cancer research, and treatment.

To create the new assay, Acutis Diagnostics will pair SOPHiA DDM for Hereditary Cancers Solution with their laboratory analysis technologies. The test is in support of genomic screening for patient enrollment in oncology clinical trials and for retrospective analyses to help explain clinical outcomes and drug target discovery, according to the company.

“The use of SOPHiA DDM will help us quickly launch this new assay to aid clinical researchers in speeding up the process for launching select clinical oncology trials and ensuring the most appropriate patients are enrolled,” says Abdel Halim, PharmD, MSc, PhD, DABCC, FAACC, chief scientific officer and executive VP, Acutis Diagnostics. “Additionally, the test is to provide researchers with a robust set of data and insights to support clinical decision-making and future research.”

An estimated 20% of cancer patients have a family history of cancer.1 Next-generation sequencing (NGS) tech can help detect biomarkers for hereditary cancers and identify mutations that help to inform treatment options.

“Our work at SOPHiA GENETICS is focused on creating technology and solutions that make it easier for everyone to practice and benefit from data-driven medicine,” says Ken Freedman, chief revenue officer, SOPHiA GENETICS. “The new assay from Acutis Diagnostics will be designed to enable clinical researchers to work faster, and with a sound set of insights around their data, ultimately benefitting their current and future patients, as well as the industry as a whole.”

The SOPHiA GENETICS hereditary cancer solutions are NGS-based applications that use artificial intelligence and machine learning with patented technologies to analyze raw NGS data and provide simplified insights. This technology enables clinical researchers to accurately characterize the complex mutational landscape associated with major hereditary cancer disorders.

Through the use of SOPHiA GENETICS’ technology, the new assay from Acutis Diagnostics is expected to further clinical research and treatments for those who encounter hereditary cancers.


1 Al Harthi, F. S., et al. (2020) ‘Familial/inherited cancer syndrome: a focus on the highly consanguineous Arab population’, npj Genomic Medicine, 5, 3