BioTech News

Canadian and French startups announce genomics partnership to better diagnose rare disease


February 28th, 2018: Paris, France & Toronto, Canada

Gene42 Inc., a Toronto company that develops software for precision medicine, and SeqOne, a French life science company providing genomic data analysis solutions for healthcare, announced their partnership to accelerate rare disease diagnosis.

There are roughly 7,000 rare diseases, with patients waiting on average 5–7 years before they receive an accurate diagnosis. Yet over 80% of rare diseases have genetic causes, and next generation sequencing (NGS) provides hope for a speedy and accurate diagnosis.

NGS has the potential to provide substantially more information on the genome which improves a doctor’s capacity to diagnose a patient but can be time-consuming and costly to interpret.

Gene42 and SeqOne are working together to address this issue.

“Capturing the doctor’s medical observations in a standardized way makes it much easier to interpret the patient’s genome,” says Dr. Orion Buske, CEO of Gene42.

Gene42’s flagship product, PhenoTips®, helps doctors quickly record patient details in a standardized format, and SeqOne’s flexible genomic  analysis platform uses machine learning to predict which gene is most likely responsible for the patient’s disease in a matter of minutes.

In a recent pilot study held in France on a cohort of patients suffering from rare diseases, preliminary results indicate that the combined use of PhenoTips and SeqOne significantly improved the proportion of confirmed diagnoses (the diagnostic yield) when compared to traditional methods, while substantially reducing the time required to interpret each patient. The companies are now embarking on a more detailed study to confirm these initial findings across multiple pathologies.

“The collaboration between SeqOne and PhenoTips creates the opportunity to accurately diagnose more patients in a shorter period of time,” explains Dr. Nicolas Philippe, CEO of SeqOne.

As we mark Rare Disease Day, Gene42 and SeqOne recognize the need to accelerate rare disease diagnosis. By combining their efforts and making their software interoperable, it is hoped that this partnership will reduce the time it takes clinicians and researchers to analyze results, decrease healthcare costs, and support the growing adoption of genomic medicine.

About Gene42 Inc.

Founded in 2014, Gene42 develops software for the investigation and treatment of people with genetic based disease. The Toronto-based team of computer scientists, software engineers, and medical experts develops specialized software to solve today’s challenges and discover tomorrow’s opportunities in medical genetics. Its flagship product, PhenoTips®, is used around the world by leading hospitals and research institutions for deep clinical phenotyping and pedigree drawing.

About SeqOne

SeqOne is a life science startup based in Montpellier that seeks to bring genomic medicine into the mainstream by simplifying the analysis of genomic data by offering improved software that manages the entire process of analysis from raw data to final report. SeqOne was founded by two childhood friends; Nicolas Philippe, a PhD in Bioinformatics and Guillaume Buwalda an expert in highly secure high throughput cloud-based computer systems. The project was conceived as part of a public research project and was incubated by the AxLR SATT before being spun out into a separate company. SeqOne enjoys the support of AxLR SATT, the BIC, BPI LRI and the Occitanie region and other regional and national players.

About Rare Disease Day®

Rare Disease Day takes place on the last day of February each year. The objective of this day is to raise awareness about the impact rare diseases have on patients and families. The campaign primarily focuses on the general public but also aims to raise awareness amongst policy makers, government partners, industry stakeholders, researchers and clinicians. The campaign started as a European event and now has over 80 countries participating worldwide. For more information, please visit:

Published on 28 February 2018


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