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Iole Pezzuto, PhD

Scientific Communication Specialist, SOPHiA GENETICS

“Serial referral” could be the title for the diagnostic journeys of some rare disease patients. Artificial intelligence (AI) now sets out to help to break this arduous cycle of referrals.


For many patients, a quick visit to the doctor’s office may not be enough, as the physician will likely need to do multiple tests to identify the cause of their symptoms. To use an analogy, if a tree surgeon has to diagnose a sick tree, they would look beyond the visible symptoms, such as the fallen leaves, and dig deeper to identify the root cause. Similarly, physicians need to dig deeper into the molecular architecture of their patients to find what is causing the disease.

AI technologies help to crack genomic data

Artificial intelligence can help hospitals worldwide to go beyond patients’ observable symptoms and spot the invisible, i.e. the mutated sequence of DNA responsible for a disease.

AI enables the analysis of the large amount of complex data coming from a patient’s genomic profile to accurately detect and characterise potentially disease-causing mutations. Health professionals can leverage an extensive data pool, built on the knowledge of worldwide genomic experts and trusted external data sources.

AI technologies continuously learn how to better pinpoint specific molecular markers associated with rare diseases and reach a clinical-grade accuracy. But the capabilities do not stop there. In addition to the advanced analytical performance, leading technologies also offer efficient variant filtering strategies to make the interpretation process easier for clinicians. Therefore, among the daunting number of detected alterations harboured within an individual’s genome, it is then possible to focus on and deeply explore only the variants of interest. As a result, patients can receive a more precise diagnosis in a shorter time frame.

A better tomorrow with Data-Driven Medicine

“It is my strong belief that advanced technologies like SOPHiA are the key to unlocking the era of Data-Driven Medicine, where secure data pooling and knowledge sharing will be extremely valuable for patients. Using SOPHiA, data collected from a patient diagnosed with a rare genetic disease in London can help diagnose a patient in Sao Paulo who has the same genomic profile. By accelerating Data-Driven Medicine adoption worldwide and maximising its impact, we can ensure that the data used to help patients today will also benefit the patients of tomorrow, thus contributing to make the global healthcare system more sustainable,” says Gioia Althoff, SVP Genomics at SOPHiA GENETICS.

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