Sophia Genetics was co-founded by Jurgi Camblong, Pierre Hutter, and Lars Steinmetz in 2011 as a start-up at École Polytechnique Fédérale de Lausanne (EPFL). It began as a research tool for hospitals and federally regulated health care labs, and then expanded to biopharma institutions.[8]
In 2014, the company introduced an analytical software platform, the Sophia DDM Platform (Data-Driven Medicine),[9][10] which helps to interpret circulating tumor DNA and circulating tumour cells in blood, urine, cerebral spinal fluid and other liquid samples.[11] The platform is used for oncology, hereditary cancers, metabolic disorders, pediatrics, cardiology, and for rare disease research.[11]
In August 2020, the company released a data analysis solution that was focused on predicting the disease evolution of the SARS-CoV-2 virus.[15] Also in 2022, the firm began development of a new method for detecting extrachromosomal DNA through collaboration with startup firm Boundless Bio.[1]
In 2016, Sophia Genetics entered into a comarketing agreement with Illumina allowing the two companies to promote adoption of next- generation DNA sequencing.[18]
In 2021, the company partnered with MGI, a subsidiary of BGI Group, to enable their users to access the SOPHiA DDM Platform for data analysis and interpretation.[21] In March 2021, Sophia Genetics announced a long-term collaboration agreement with Hitachi.[22]
In 2022, the firm committed to a collaboration with Memorial Sloan Kettering Cancer Center to advance predictive tumor analysis and, more broadly, clinical decision support.[1]