Press Release: Canadian & French startups announce genomics partnership to better diagnose rare disease

Two startups join forces and use AI-driven genomic analysis to diagnose patients with rare diseases. Preliminary results indicate that their combined technology will significantly reduce the time it takes to arrive at a diagnosis as well as the cost per patient.

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At Gene42, we are striving to improve medical genetics with smart solutions that address key problems in the field.

The problem

As we see it, medical genetics is hindered by a few key problems:

Patient information is difficult to share

Data sharing and collaboration is most often the key to a prompt and accurate diagnosis. However, numerous technical and bureaucratic challenges stand in the way of clinicians trying to collaborate on patient cases.

In an age where an image, video, or article can be shared with thousands of people in an instant, why not your patient records?

Clinical data can’t be analyzed easily

Big data analytics make it possible to mine otherwise difficult insights out of large sets of data. However, clinical data is often recorded in inconsistent, non-standard formats that can’t be analyzed easily.

In an age where big data analytics guide our shopping, eating, and even dating, why not your patient records?

Charting is a time-consuming hassle

Keeping precise, comprehensive records is vital for reaching a diagnosis. However, revising a family pedigree often means redrawing it from scratch. Evaluating physical measurement percentiles involves tediously referencing tables and textbooks.

In an age where dozens can effortlessly collaborate on a complex document simultaneously, why not your patient records?

The solution

Empower clinicians with efficient, user-friendly software

Build software that makes charting easier, starting by relieving the largest pain points in the traditional paper-based approach. Adapt the software to the clinician’s needs through continuous feedback, rather than asking the clinician to adapt to the software.

Facilitate charting in standardized, machine-friendly formats

Grant clinicians the power of standardized clinical coding systems without the tedium of manual term lookups. Expose multi-thousand-term vocabularies through simple search engine and browser interfaces.

Provide automatic cross-referencing and clinical insights

Turn hours into seconds by automating time-consuming lookup and cross-referencing processes. Promote more comprehensive investigations by placing a wide array of resources at the clinician’s fingertips.

Make clinical data-sharing easy

Enable record sharing between institutions at the click of a button, with privacy and policy controls built-in. Facilitate widespread IT system integration using industry-standard interchange protocols and formats.

By the numbers


Institutional Users


Patient Records


Operational Instances

Trusted by institutions around the world