Health Committee on May 7th, 2013

[Djaouida Sellah, NDP, Saint-Bruno—Saint-Hubert, QC]

Thank you, Madam Chair.

My thanks to our guests.

I know there are a lot of rare diseases, as many as 3,500, and more than 80% of them are linked to genetic factors.

I will get right to the point. In Quebec, we have a newborn screening program, which seeks to detect conditions such as phenylketonuria, congenital hypothyroidism or a deficit of acyl-CoA dehydrogenase in medium-chain fatty acids in the 24 to 48 hours after birth.

Could you tell me if similar tests are done anywhere else in Canada? If so, that’s great.

Are there also other tests being systematically administered at birth?

My question is for Dr. Innes.

[The Chair, Conservative, Joy Smith]

Dr. Innes.

[Dr. Allan Micheil Innes]

Certainly, newborn screening is one of the major public health successes of the last 50 years. I would say that every province in Canada, indeed almost every jurisdiction that I'm aware of, at least in the developed world, does have some sort of newborn screening in place.

The panels differ from province to province, and those are under the purview of the provinces to decide, although there certainly are some common conditions, including phenylketonuria or congenital hypothyroidism, which are essentially screened for universally. The purpose of these programs is primarily to screen for conditions that are eminently treatable in the neonatal period, for which the children have a pre-symptomatic window where they're completely well, but if exposed to either a certain toxin in their diet—it can be things that are well tolerated by normal children—or in the absence of a hormone such as thyroxine, their development will regress in an irreversible way.

That's the principle of newborn screening, which is universal across Canada, to identify a small subset of diseases for which there's a rapid, usually a relatively cheap, therapeutic intervention. Where there becomes a little bit more tension is on whether you expand that screening to detect also conditions that are untreatable. There are arguments pro and against that.

[Djaouida Sellah, NDP, Saint-Bruno—Saint-Hubert, QC]

According to Orphanet, people with rare diseases are more psychologically, socially, financially and even culturally vulnerable, particularly because their challenges have to do with being able to access quality healthcare, comprehensive social and medical support, effective liaison between the hospital and general practice, as well as social and professional integration and autonomy.

Innovative technologies could be particularly beneficial for people with rare diseases, but the rarity of the disease can create strategic difficulties. In your view, how should we balance the high costs of research and treatment of low-impact and low-prevalence diseases and the great need experienced by this small patient population.

[The Chair, Conservative, Joy Smith]

Who would like to comment on that?

Dr. Innes.

[Dr. Allan Micheil Innes]

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 research to get answers for what are truly devastating disorders. Having said that, we do need to recognize at times there's a limited pool of resources, whether that's research or clinical dollars.

I think a few points can be made. One that I already alluded to previously is that occasionally research into a rare disease can often give us tremendous insight into common disease. This story has played itself out many times over in the fields of hypercholestoralemia, and many rare cancers. Through the research into rare genetic forms of cancer, you find the genes that are also the same genes that are mutated in people with common cancer. One point is that the research is often generalizable.

I think going forward, if we're talking about 3,500 rare diseases, the system will be stretched if we're talking about 3,500 new expensive therapies. What I think we may have to envision is collapsing down various rare diseases into families or groups of diseases where maybe you can have a common therapeutic approach.You may have to pool things, given the limited resources.

[The Chair, Conservative, Joy Smith]

Thank you, Dr. Innes.

We'll now go to Mr. Wilks.

[David Wilks, Conservative, Kootenay—Columbia, BC]

Thank you, Chair, and thank you to the witnesses for being here today.

Dr. Innes, you mentioned next generation sequencing in your presentation and you mentioned 180 pediatric disorders that have been identified. Where do you see next generation sequencing going in the next five to ten years? What do you think the federal government can do to work with that technology?

[Dr. Allan Micheil Innes]

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 question it works there.

The other where I'm a little less personally experienced but it has probably been the biggest success story to date is in cancer. Again, if we realize that all cancer is a genetic disease in the sense that it's a mutation in the gene in that cell that causes the disease, by doing next generation sequencing on tumours, you can identify the genetic changes that are unique to that tumour, and target therapy. That's not my area of expertise, but that's currently in clinical translation.

I suppose the next step is will every patient, will every Canadian, have their genome sequenced at some point, and at what stage in the life cycle? I'm not sure. As a geneticist, I'm not pushing for that yet, but that could come.

I think where we would ask for thought nationally.... It may not become a funding issue eventually. These are still expensive technologies now. There's going to be investment in infrastructures required. The cost will come down, but I think there needs to be guidelines in place for how to implement this technology. We talked already about genetic insurability and discrimination. This can only get worse. You could potentially imagine that if everyone has their genome sequenced, we're all going to be found to carry something. Eventually, the insurance companies will need to realize that. All their clients carry something, but there may be a window or time when things get worse, not better. I think this speaks to that need again.

This is outside the purview of high tech, I suppose, but I would also put in a plea for education. We're going to require a whole new generation of young Canadians who are savvy in computers, bioinformatics, genetics, genetic testing. That's going to require an investment as well.

[David Wilks, Conservative, Kootenay—Columbia, BC]

I will give the rest of my time to Mrs. Block.

[The Chair, Conservative, Joy Smith]

Okay.

[Kelly Block, Conservative, Saskatoon—Rosetown—Biggar, SK]

How much time is that, Madam Chair?

[The Chair, Conservative, Joy Smith]

You have about a minute and a half.

[Kelly Block, Conservative, Saskatoon—Rosetown—Biggar, SK]

I'll be quick.

I had the opportunity to attend a fundraiser, probably a year ago now, for a young girl in my riding who has Rett syndrome. I understand that about 17 girls in Saskatchewan have this rare disorder.

It's just overwhelming when we hear that we are looking at over 3,500 rare diseases or disorders. You spoke earlier in response to a question from my colleague about collapsing the therapy, about how you would manage some of these rare disorders by grouping them into families. I wanted to let you expand on that a little, Dr. Innes.

[Dr. Allan Micheil Innes]

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 the gene goes wrong and causes a disease and how we can fix that, we have to recognize that sometimes genes work in pathways, so there may be a whole sequelae of genes. You can modulate one or the other, but they may eventually all converge on a pathway somewhere down lower. If you can modulate that target, you may have a successful treatment of 10 or 20 diseases along the pathway. I think we're going to have to think in that way. Researchers may not be able to work in their silo just studying their one disease. They may have to think about a category.

[Kelly Block, Conservative, Saskatoon—Rosetown—Biggar, SK]

Thank you.

[The Chair, Conservative, Joy Smith]

Thank you, Mrs. Block.

We'll now go to Mr. Kellway.

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

Thank you, Madam Chair.

I thank our guests for coming today.

Dr. Innes, I was curious about your comments when you said that not everybody can see a geneticist, and the kind of random discovery of you by some people, somehow.... As the technology develops, and you touched on this a bit in response to Mr. Wilks' question, I'm wondering if you have any thoughts about how this plays out for people who have a child or who themselves develop certain symptoms. How do you get to a geneticist to take advantage of the diagnosis and potentially therapies and treatments?

[Dr. Allan Micheil Innes]

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 get an earlier diagnosis can help. We can leverage technologies; we're already using them. Our clinics are very involved in outreach. I travel throughout the province to see patients. We use telehealth when it makes sense. There are ways to bring ourselves to the patient. There may be ways through more democratic availability of sequencing or using computer algorithms to get diagnoses more quickly.

You may never be able to replace the geneticist or genetics counsellor as being the doctor or the person with the most expertise in that disorder, who still needs to talk to you about it and walk you through the natural history. That may always be a bottleneck, unless we can train more of us, but there's a variety of ways in which we can get information out to people so that they can at least get to us, or so we can start working with them to get the information we need, so that when we do see them it's not a wasted visit.

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

Is there discussion in the community about ensuring that there is a growing number of people getting trained in genetics? I mean, if this is the future of medical science, is somebody thinking about growing that profession or expertise? Do you know?

[Dr. Allan Micheil Innes]

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 planning, both for medical geneticists and for genetic counsellors.

It's a complex issue in regard to how you train a physician, which takes a long time, and then ensure that physicians have a place to be hired to. It may seem paradoxical, but it is a fear for these trainees when they're done, unless there's a job.

We're working on those issues, to be sure, but I think that even if we doubled or tripled the number of geneticists, if we're thinking about getting genetic testing out to all Canadians, there will never be enough. My profession is going to have to take a more active role in educating all physicians about what this technology means and how to use it. We're also thinking about ways to do that.

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

Thank you.

Ms. Micallef, genetic science seemed to approach so rapidly and changes so rapidly. The bill you were talking about on genetic information and discrimination based on genetic characteristics, how far down the road do you think that's going to be able to work and handle changes or rapid advancement of the science?

[Jacquie Micallef]

That's a very good question.

The way we see it, it's about privacy, and it's about protection. Because we have identified those two major issues, being employability and insurability, and to my knowledge we haven't seen it play out in other major aspects of a person's life, I think it's covered there.

The other piece is that putting in a bill like this, with genetic fairness or anti-genetic discrimination, legislation will also help to bolster Canadians' involvement in research. Really, it's sort of flipping it, because it will actually help in some way possibly to move the science down the road. It's a big barrier for a lot of people to participate in research in Canada.

[The Chair, Conservative, Joy Smith]

Thank you very much, Ms. Micallef.

Now we'll go to Mr. Lobb.

[Ben Lobb, Conservative, Huron—Bruce, ON]

Thank you very much.

Thank you to our guests for being here today.

I have one question. I'm trying to figure out how to put this best. I was thinking back to a couple of years ago when they did some genetic sequencing for Ozzy Osbourne. You may remember that. It was in the news a couple of years ago. They were doing some sequencing and so forth to try to figure out what made this guy tick and how he's still on earth.

At the time, though, I remember they mentioned the cost, but it seemed to me it was in the hundreds of thousands of dollars. Is that right, or was it in the tens of thousands of dollars to have it done privately?