So, on a totally different note that has little to do with my usual rants about bedside ultrasound, resuscitation and critical care, I wanted to share with everyone an interesting project I’m involved in which really applies not only to prevention and early diagnosis, but even to the care of the acutely ill, and this is genomics.

To us physicians in the trenches, mutations are generally clinically relevant in certain limited settings, such as thrombosis (factor V et al, ), cancers (BRCA1, etc), but not really in our day-to-day. However, in the next decade, this will probably change quite a bit. The human genome project not turbocharged by crisper technology has resulted in an exponential increase in research and discovery of genetic mutations, disorders and, around the corner, gene therapy.

So in the last year we’ve put together a team, developed and designed a process by which an individual can get his entire genome sequenced, then ran against the current crop of known and significant mutations. We have a team of genetic counselors that will ensure follow-up of anything found. Additionally, genomes will be re-run on a yearly basis against any newly discovered significances.

So, what does this mean clinically? Well, I won’t bore everyone with a mutation-by-mutation breakdown of what could be done, but I think everyone understands the advantage of knowing specific disease propensity and having a heads-up for the development of certain associated pathologies. If I had factor V leiden, I might be tempted to take a couple aspirins before boarding and make sure I walk the aisles regularly in my trans-pacific flight, or if I have the philadelphia chromosome, I might get a cbc when my cold/flu lasts more than a couple days…

To get a little more perspective, here is a recent article by the American College of Medical Genetics that may help see the possibilities:

ACMG Article

So I’m really quite excited by this development, and I think it can have quite an impact. For the moment, there are costs involved, but as we are clinician group and not a corporate machine, we are keeping these as low as possible. For anyone interested, for themselves, their practice or their patients, or just have some questions, please get in touch! We have just opened up the “door” in Montreal and are starting up in Toronto shortly.

The real value to this organization is a turn-key solution to genetic testing and follow-up, unlike any other out there, none of which are MD-run nor involve genetic counselors and association to specific clinics and medical follow-up, in addition to the updating of the patient’s variants against new discoveries and treatments.

This is the cutting edge. That’s why I like it!

See below for some more details:

cheers

Philippe