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AI adoption enhances analysis of patients' genomic profiles

Kgaogelo Letsebe
By Kgaogelo Letsebe, Portals journalist
Johannesburg, 07 Apr 2017
African hospitals that have started integrating SOPHiA artificial intelligence into their clinical workflow.
African hospitals that have started integrating SOPHiA artificial intelligence into their clinical workflow.

The Cape Town based Centre for Proteomic and Genomic Research (CPGR) will be adopting SOPHiA Artificial Intelligence to trigger a continent-wide healthcare leapfrogging movement. SOPHiA is an Artificial Intelligence (AI) algorithm developed for the analysis and interpretation of DNA sequencing data. It was developed by Sophia Genetics a bio-computational (bioinformatics) company based in Switzerland.

The hospital is one of seven African medical institutions which has started integrating SOPHiA, into their clinical workflow to advance patients' care across the continent. According to the company, African hospitals are adopting SOPHiA "to get up to speed and analyse genomic data to identify disease-causing mutations in patients' genomic profiles, and decide on the most effective care".

Speaking about the benefits of using SOPHiA for African patients, Dr Reinhard Hiller from CPGR said there are a number of reasons the centre implemented the AI. "We are using the AI for various reasons, such as its ability to provide high-quality reference samples for workflow validation and that its analysis and reporting algorithms have been extensively tested by a global community of Genomic Medicine practitioners, allowing us to offer a best-in-class service from the word go. The overall implementation of the system has required that we proof that the data we generate are of high quality, already propelling us to greater quality of work."

The technological development means two things, Dr Hiller explained. "On the one hand, that the centre can locally offer a best-practice solution and make state-of-the-art tests available to the local medical and/or patient community immediately. On the other hand, it allows the centre to develop its own computational solutions, which is unfolding as a parallel process. Our aim is to have a fully localised solution in the near future and we are using SOPHiA's platform to generate reference data that we can use to benchmark our own solution."

Such developments are something of importance to doctors and patients in the local context, he stressed. "Another important aspect is that we will learn rapidly from the actual test delivery process, towards improving existing and developing further solutions that tackle local South African and African health challenges."

Among other diseases, SOPHiA will be a key partner for African hospitals in oncology. Breast cancer, for instance, has been described as a "serial killer" on the continent as lack of relevant diagnostics and personalised care means that 60% of women with breast cancer in Africa die versus 20% in the US and EU. According to a 2012 global report from the International Prevention Research Institute, an earlier diagnostic of breast cancer could increase life expectancy by 30%.

Speaking about the adoption of SOPHiA in Africa, Jurgi Camblong, Sophia Genetics' CEO and co-founder, said: "Since inception, our vision has been to develop innovative technological solutions that analyse patients' genomic profiles to offer better diagnosis and care to the greatest number of patients, wherever they live. I am very proud that SOPHiA is triggering a technological leapfrog movement in healthcare across Africa." As new users of SOPHiA, the centre will become part of a larger network of 260 hospitals in 46 countries that share clinical insights across patient cases and patient populations, which feeds a knowledgebase of biomedical findings to accelerate diagnostics and care.

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