Health Committee on May 2nd, 2013

[Dr. Durhane Wong-Rieger]

I'm sorry, can you not hear me?

[The Chair, Conservative, Joy Smith]

You're back again. Okay, continue on.

[Dr. Durhane Wong-Rieger]

As I was saying, because of the international linkages in many cases if you have only, let's say, three sites internationally, we actually do have patients who are followed and have consults via international sites. Look at Sick Kids Hospital in Toronto, where they actually are providing consults to patients who are in other countries as well. So it is very important that we're now part of this large international community.

[The Chair, Conservative, Joy Smith]

Remarkable. Thank you very much for that answer.

We'll now go to Dr. Morin.

[Dany Morin, NDP, Chicoutimi—Le Fjord, QC]

Thank you, Madam Chair.

Normally, when I take the floor at Standing Committee on Health meetings, I focus on issues of national scope. However, since we are talking about rare diseases, it is appropriate to also discuss individual cases.

In the municipality of Sainte-Rose-du-Nord, which is in my riding, there was a little boy named Miro Angers-Laurin. He had a rare disease called diffuse intrinsic pontine glioma. Only one or two such cases are detected annually in Quebec.

When the diagnosis was made, the child had only nine months left to live. Miro's family, which I know very well, decided to spend those nine months granting him all his wishes. That was a nice thing to do, but, during that time, they refused to allow therapeutic trials that had been proposed because they were not very conclusive.

Afterwards, they founded the MIRO foundation. That organization feels that it would be important to create and implement an international registry in order to learn more about that tumour and encourage research, since there aren't many such cases in Canada and the world.

We can also draw a parallel with other rare diseases. Would Health Canada be prepared to support that kind of initiative and collaboration? Dr. Wong-Rieger said that it would be important for Canada to become a leader in the area of rare diseases. The government would show leadership by working with our other international colleagues.

As a Health Canada representative, what do you think?

[David Lee]

Thank you.

Madam Chair, we at Health Canada would very strongly support the idea of cooperating in international registries. This is a very key aspect of the rare disease world.

How you enter very important information into registries is a key question. So coordinating internationally is a very important issue. That's why having these discussions among regulators about how to study drugs that are otherwise very difficult or impossible to study so that we can be very clear about the requirements is very important.

A new international consortium has been developed. It is actually chaired by a Canadian, Paul Lasko from CIHR, and I think we can be very proud of that. This consortium coordinates research of this kind, very small research, so we need to link countries together. There are over 30 countries in this consortium. Its purpose is to focus research and make sure we don't have redundancies. So lifting registries into the important study of both the disease and the drug and trying to learn as much as we can from them is a very important aspect of regulating.

[Dany Morin, NDP, Chicoutimi—Le Fjord, QC]

Thank you.

I would like to ask Dr. Wong-Rieger what she thinks of such an initiative.

[Dr. Durhane Wong-Rieger]

We are very supportive. The European Organisation for Rare Disorders, the National Organization for Rare Disorders in the U.S., and the Canadian Organization for Rare Disorders have actually signed a joint memorandum of understanding to say that we support international registries, and as David says, they need to have common elements.

The other thing I will mention is that the NIH, the National Institutes of Health in the U.S., has just in fact helped to launch a large genetic registries website called Registries for All. It's meant to be exactly for this purpose, to provide a common platform on which you can have individual genetic diseases registered. Patient access is available. We're very much encouraging all countries to go to a common platform so that the data may in fact be shared. Patient privacy can be protected. As David said, we're very supportive of it, and we're also very proud that Canada quite frankly is again one of the leading partners in helping to move this kind of an initiative forward.

[Dany Morin, NDP, Chicoutimi—Le Fjord, QC]

Thank you very much.

[The Chair, Conservative, Joy Smith]

Thank you very much, Dr. Morin.

I want to thank both the witnesses for their very insightful answers. It's a very unusual topic in some regards, and it's very useful.

Mr. Daniel, you're next.

[Joe Daniel, Conservative, Don Valley East, ON]

Thank you, Madam Chair.

Thank you, witnesses, for being here.

As we hear about all the processes that are going on and the framework you're putting together, it would seem that most of the remedial action is at the back end of the process. A disease has to be discovered, and then you react to that to try to come up with a medication to counter that.

My question is since this is all based on defective genes and so on that create these rare diseases, is there any innovation going on in technology—for example, there's a piece of equipment called GeneXpert that's being developed in Canada—to actually predict some of these things ahead of time?

Are you including any of that innovation in technology into the framework process?

[David Lee]

Thank you, Madam Chair.

Predictive technologies are a very important innovation in this space. Some of them will become regulated as medical devices, but some of them are a matter of hospital-based research. Identifying predictively when a disease is going to appear or what its symptoms and natural history might look like is very important work. It's frontier work. So if we were bringing it into the regulatory cycle, I think we would need to pay attention to two things. One is how it integrates with presenting treatments, and the other is how much validity and certainty we can get around these new technologies, because a misfire, predictively, could lead someone either to be without the necessary treatment or to have treatment they shouldn't have.

This is something that internationally many regulators are trying to get their minds around. A lot of very important discoveries are being made, but again, bringing them into the regulatory pathway is a matter of study. We want to make sure too that we don't overburden those innovations and remove a certain suppleness from them by requiring too much of the wrong thing. So understanding how you would validate that kind of predictive model in the regulatory cycle is another important discussion. We want to be very practical. We're having more and more discussions, especially in oncology, the area of cancers. A lot of progress is being made on identifying different types of cancers we haven't seen before.

So with regard to what we are to make of this—we're talking with a lot of our research specialists and others to develop technologies that detect those sorts of genetic variations—and to understanding how to bring that in are parts of a very important discussion.

We're also inviting our international regulatory counterparts. There's a lot of work going on in the United States on that as well.

[Dr. Durhane Wong-Rieger]

Can I can add a couple of things to what David is saying? It's very important.

First, it's not just looking for new technologies. I will tell you that there's an area in which Canada ought to be ashamed, namely, that we do not provide universal newborn screening. More and more countries are moving to that. We could actually detect, at birth, many more of these genetic disorders, many of which can be intervened in at birth to prevent the disease, or at least identify the disease before the family has another child with that same disease.

Yet there is not a universal program. Some provinces do a good job, doing more than 30 diseases; some provinces are still doing as few as four.

Second, because we don't have a national strategy around it, each province is in fact doing its own thing. Here there are two dangerous things. One is that you need a critical number in order to be able to identify these diseases, and even to know what to do with the test. Quite frankly, we're wasting money by having each province do it on its own. We don't need that many newborn screening sites in Canada. We could do a better job and have better use of our resources, as well as be more effective.

There's another thing that we're investing in—I think David knows this—and that's the very good research that's going on towards that whole area of genome sequencing that we know about. There is a prediction that in a very few years, that could become very practical. In one test, you could actually identify a whole host of rare diseases. We are at the forefront of that. How we will use it and how we will apply it and make it available—those will be our challenges.

So on the one hand, I think we're doing a shameful job. On the other hand, we're at the front end of the research.

[The Chair, Conservative, Joy Smith]

Thank you very much.

[Joe Daniel, Conservative, Don Valley East, ON]

Do I have any time left?

[The Chair, Conservative, Joy Smith]

You have about 20 seconds.

[Joe Daniel, Conservative, Don Valley East, ON]

Okay. That's fine.

[The Chair, Conservative, Joy Smith]

Thank you, Mr. Daniels. And welcome to our committee.

We'll now go to Mr. Kellway.

[Matthew Kellway, NDP, Beaches—East York, ON]

Thank you, Madam Chair.

Thanks to our guests for coming today.

There are a few things I've heard today that have struck me. One of them is this aggregate total of rare disease, which actually strikes me as a very high incidence.

I think you said it was one in ten, Mr. Lee, or one in twelve, as per your paper; it's roughly the same.

The other thing is the easy and free acknowledgement that international cooperation and collaboration make so much sense, and in fact kind of follow naturally because of the small groupings and stuff.

I think, Mr. Lee, you said that in fact the thing about rare disease is that it attracts a lot of international cooperation.

In spite of all of that, to date we somehow seem to have resisted that natural attraction to international cooperation by just now—if I understand this correctly—bringing in this framework, or proposing a framework that will, in your terms, Mr. Lee, create space in which Canadian research and innovation can thrive.

I'm kind of stunned by the place we're at with all of this, frankly. In order to almost fight the natural attraction for international cooperation to be able to participate in that and help the 10% of Canadians who suffer from rare diseases, we somehow have resisted that opportunity, and are in the place we're in today.

Ms. Wong-Rieger, I want to ask you about the genome research you mentioned at the end of your last comments. Now that we seem to be on the precipice of a place in which Canadian research and innovation can thrive with this framework—if that's indeed the case—how do we connect this genome research into the issue of rare diseases? Is there an element of the national strategy you're proposing that does specifically that?

[Dr. Durhane Wong-Rieger]

It does all relate together. Certainly not all genetic diseases are rare diseases; however, about 80% of the rare diseases are genetic diseases.

One of the biggest challenges, quite frankly, is being able to identify and diagnose a disease. As we often say to families, when you have a disease or you have a condition that's not diagnosed, it's not that it's not diagnosable; it's just that we haven't been able to diagnose it.

So having some means of being able to diagnose a disease, and diagnose it fairly accurately, can then actually lead to a whole host of either preventive actions or at least supportive actions. That's the first step.

We do need to have these national centres of reference where we can then actually refer patients in order for them to get ongoing kinds of support and intelligence. So it's the first step towards it. But you're absolutely right that if all we're doing is diagnosing the disease and we're not doing any of the other kinds of work necessary, we could actually be leaving a lot of families in a lot worse condition than if they didn't know.

So it is part and parcel of an overall strategy, but as we've said here already, we know it has to be national. We should not ask each province to do this. It makes no sense to do that.

I go back to saying that we would love to have the dialogue. The next step beyond an orphan drug regulatory framework is to really talk about a national strategy, and I think it's a public health strategy.

[Matthew Kellway, NDP, Beaches—East York, ON]

Now's your opportunity, actually. There will be other opportunities, I'm sure, but I'd like to give you the opportunity to take advantage of this one and perhaps elaborate a little more on what these centres of excellence might look like and might do. What institutionally do they look like? Where do they live? Where do we build them? Who participates?

[Dr. Durhane Wong-Rieger]

We have some already, so not to say that we're starting this without some knowledge. If you look at SickKids, for instance, they have a very good centre of excellence around pediatric cardiovascular diseases and rare diseases. There is a vasculitis centre there. In fact, the research projects that have just been funded by CIHR for emerging teams on rare diseases all actually constitute a centre of excellence. These centres have to be bigger than a single disease, obviously, so there are natural groupings of diseases that need to take place. They can be defined, certainly, by the cause of the disease; they can be defined by the whole host of organs that they actually impact, though many of these are multi-system diseases. So we actually have some of those in place.

What we would love to see is, in fact, a national consultation around that, bringing together the clinicians, the researchers, and the patient community. There's a whole format that the European Union has put together to host consultations around that discussion. Quite frankly, we want to get the orphan regulatory framework first, but we really would like to introduce that format into Canada so we aren't reinventing the wheel even in terms of how to do it.

[The Chair, Conservative, Joy Smith]

Thank you, Dr. Wong-Rieger. Thank you for those insightful comments.

We'll now go to Dr. Fry.

[Hedy Fry, Liberal, Vancouver Centre, BC]

Thank you very much.

Dr. Wong-Rieger answered my question on the diversity. It's important, because I think that Canada has a huge role to play in terms of looking at transnational research. We have one major public administrator, really, to get all our data from, so the data is easy to share, unlike in the United States, which has the same diversity, but has to deal with, I don't know, 3,000 separate private insurance companies, and that makes it very difficult.

That's something that I feel. I don't know if you were looking at that within your framework, how Canada plays that kind of role, in terms of looking at the ethnic and the racial diversities, and how we can provide some transnational research for that in the international framework.

Mr. Carrie did ask the question, and it's something that we need to learn from others about how to do this. I think we used to do it well. The question is: how do you work around jurisdictional responsibilities to create something for all Canadians? If the European Union, as I asked in my question, has many autonomous nation states that they can set a framework for, why can't we in Canada learn from them? What can we learn from them? Is there going to be something we're going to try to learn from the European model of how this is done well?

Does anybody want to take that on?

[Dr. Durhane Wong-Rieger]

I don't think anybody would pretend, as you say, that the 27 member states of the European Union are all working in lockstep. There is something very important—and certainly rare disease patients are counting on it a lot—and that is the whole cross-border directive, that patients, if they cannot get the care in their own country, can in fact move and get the treatment from another country. I mean we're saying, “Good gosh, you can't even do that well across provinces in Canada”. That's the first thing we could learn, namely, how we actually facilitate patients who are in one jurisdiction getting access to what may be the only centre of excellence in another.

Quite frankly, as you might imagine, if there were in fact a national strategy, the provinces would expect that it would come with some sort of incentives to make it happen. I always hate to talk about the big word, in terms of funding, but I think there would need to be some sense of how we would do that. The same as CIHR has done, we need to have the Genome Canada kind of funding. Orphanet is funded out of a national budget. I do think that one would have to talk about how you would actually be able to mobilize the funding so that it could be centrally managed and to make sure that there is, in fact, fair participation, and not just based on population and ability to pay. We know that some of the pockets of these diseases are not necessarily in the most populous cities or even in the most populous provinces.