SOPHiA AI the technology choice for diagnostics in Latin America

The AI program is helping prevalent hereditary cancer diagnosis, by efficiently handling data analysis and interpretation on large databases

Sophia Genetics, global leader in Data-Driven Medicine, has announced that ten new genomic institutions from Latin America have started using SOPHiA, the company’s AI, to democratise access to clinical genomics on the continent.

Using the Sophia DDM advanced SaaS analytics platform for clinical genomics, the institutions will first deploy SOPHiA for hereditary cancer diagnosis.

About 1.1 million new cancer cases and 600,000 cancer deaths are estimated to occur annually in Latin America and the Caribbean. Hereditary cancer predisposition syndromes comprise approximately 10% of diagnosed cancers but familial forms are believed to account for up to 30% of some cancers.

“Sophia Genetics first helped us quickly overcome the burden and complexity of a complete validation program to obtain consistently reliable top quality data.”

In the Hispanic population, the most commonly diagnosed hereditary cancers include colorectal cancer syndromes, such as Lynch Syndrome, Familial Adenomatous Polyposis, and hereditary breast and ovarian cancers, which can all be diagnosed using SOPHiA.

Following a first partnership announced in October 2016 with DASA, the largest medical diagnostic company in Latin America, SOPHiA has been rapidly adopted in the region.

Below are the latest genomic institutions to adopt SOPHiA in Latin America.

In Mexico

Servicios Genomicos, a spinoff from Mexico’s National Genomic Medicine Institute (INMEGEN) and a predominant actor in clinical genomics.

Carmen Aláez Versón, Chief of the Genomic Diagnosis Laboratory at Servicios Genomicos, said: “Sophia Genetics first helped us quickly overcome the burden and complexity of a complete validation program to obtain consistently reliable top quality data.”

“We then saw in Sophia DDM’s friendly interface, a decisive tool in optimising the data analysis and interpretation of our growing patient database.”

In Colombia

GenCell Pharma, a national pioneer in molecular diagnostics, will use SOPHiA to offer genomic profiling to patients at risk of hereditary cancers.

Andres Zapata, Director of GenCell, commented:

“Through Sophia Genetics, we saw the best partner to efficiently and confidently implement such technology. The access to data pooling information from the community through Sophia DDM analytical platform is crucial to help us better diagnose patients.”

In Uruguay

Genia is one of the major regional actors in clinical genomics. They will use SOPHiA to analyse the genetic makeup of patients from the five countries of the Southern Cone, and produce the relevant diagnoses.

Juan Martín Marqués, Scientific Director at Genia, said:

“Thanks to the superior results obtained by SOPHiA on previously hard to find genetic alterations for BRCA1/2 and the easiness to detect all these variants in one complete simple workflow, we have decided to implement Sophia DDM in routine for all of our samples.”

SOPHiA is currently used by 240 healthcare institutions from 39 countries. In Latin America the AI will gradually be deployed further in oncology, metabolism, paediatrics and cardiology.