Health committee  Thank you. It's a tough question. It's a question that is hard to answer in a few minutes. It's a question that hits close to many of us and what we do already, in the sense that we are faced with these ethical issues that are not easy. I will say that in many cases I'm remarkab

Health committee  Well, yeah.... The history is there in many jurisdictions, including my own province, so you're right. I guess I would have to reflect back and look at my colleagues who are in government and hope that's not the case. I guess it's a theoretical fear. I don't see that coming. I th

Health committee  Those are excellent questions. I think personalized medicine means different things to different people. I don't think we can attach a cost to it, per se, although the proponents of it would say that in the end it's surely more cost-efficient. It's the recognition that if you

Health committee  These are fair questions. I think each organization has to do what they think they can do to help. Given our current funding and mandate and time, it's not Orphanet's job per se, or mandate, to itemize the number of patients with this disease or that disease, but to facilitate

Health committee  Thank you. Orphanet Canada is not resourced, per se, to help those families with the day-to-day activities. In that role, all Orphanet Canada can do is help direct them to the relevant organizations. But this is something I deal with in my practice. Rett syndrome has been men

Health committee  Absolutely, Orphanet is primarily an information portal. That's its major purpose. There is both national-specific content and international or global content. The international global content is out of my control. That's not to say that I or any other interested Canadian could

Health committee  Not clinically, although we are starting to pilot that. I didn't have the opportunity to mention that we do have a large Genome Canada and CIHR funded grant on rare diseases. We're going to start piloting it. I believe there are other jurisdictions, including the SickKids Hospita

Health committee  I think they're thinking about the same sorts of things that we're picturing. You're right in that there are ethical issues that can't be trivialized, and I'll try to reassure you that the community is thoughtful about them. Right now we're primarily talking about seeing childr

Health committee  Another hat I wear is that I chair the specialty committee for medical genetics at the Royal College of Physicians and Surgeons of Canada. It is part of our purview, along with our specialty society, the Canadian College of Medical Geneticists, to think about human resource plann

Health committee  I didn't expect an Ozzy Osbourne question today, but let me take it on. You're right. I believe that was maybe three or four years ago and the costs would have been in the $100,000 range. Three or four years before that it would have been $1 million. The human genome project to

Health committee  I think the test performs best in conditions that are clearly genetic. I think that's where it has its highest role right now, so it's an excellent diagnostic test for many of the conditions my colleague and others have spoken to. For highly penetrant genetic conditions that affe

Health committee  Thank you. I guess we could think of it in two ways. My colleague has already spoken very nicely about non-genetic technologies that can be used, so if these new technologies can be leveraged regardless of the genetic cause.... But if we're thinking about understanding why th

Health committee  My point of course is that everyone is welcome to see a geneticist if they meet criteria, but our numbers are limited and the waits are long. Also, as you say, even many physicians, let alone families, don't know of our existence. Data portals like Orphanet can help. Tools to ge

Health committee  Thank you for that question. Obviously, I speak both as a coordinator for Orphanet Canada and a researcher but also as a physician for individuals affected by these rare diseases. As their physician, it's nearly impossible at times to resist the urge to embark on further researc

Health committee  Next generation sequencing certainly has a variety of applications that are fairly exciting right now. They're right on the cusp of research and clinical. One is the type of thing I've already spoken about, which is for both research and diagnostics into rare disease. There's no