Targeting Medicine with Molecular Diagnosis

With molecular diagnostics, a key technology in “targeted medicine”, populations can be identified that are predisposed to certain diseases, leading to earlier intervention and better therapies.

“There is a particular need for molecular diagnosis in neurology, because a large number of diseases are hereditary, caused by genetic mutations”, says Michael Sinnreich. “Not only does it help define a precise treatment – or prevent the wrong treatment – but the knowledge is critical in family planning and counseling for an inheritable disorder.”

Sinnreich and Dr. Eric Shoubridge co-direct the new Molecular Diagnostic Laboratory for Neuromuscular Diseases. Shoubridge is an internationally renowned specialist in molecular genetics of mitochondrial diseases. Sinnreich and Shoubridge were each pursuing their own specialty when Sinnreich began to consider the need for a more comprehensive capability within the MNI.

The MNI is the reference centre for neurological diseases in Canada. Patients are referred from across Quebec, Canada and North America for investigation.

“Genetic diagnosis is not easy to obtain in Quebec”, he says. “It’s cumbersome and costly. Either you send a test to very expensive commercial labs out of province, or you send it to specialized research labs that only do one type of test and takes six months. Since we do a lot of genetic testing here at the MNI, it seemed to me a clear case for a well structured facility of our own.”

With a start-up budget from CECR funding, the Laboratory has been sufficiently successful to warrant increased funding in Year 2. The lab has generated sufficient revenue on a cost-recovery billing basis to enable the hiring of a second technician. Most initial tests were done for clinicians at MNI or within the MUHC, but the service is starting to attract business from a wider circle.

The MNI is now looking at a more expanded capability for the Laboratory: a new study of the in vitro diagnostic market anticipates compound annual growth of 13% for molecular diagnostics over the next three years.