Health Committee on May 7th, 2013

[Dr. Allan Micheil Innes]

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 sequence the first genetic code of the first person took 10 years and cost $5 billion. We've gone from $5 billion to $1,000 in about 15 years. The pace is quite extraordinary and the costs are plummeting in that sort of scale.

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

With a diagnostic test like that, what can we find out, basically? What length of details can we find out with that? How much detail can we find out from a test like that?

[Dr. Allan Micheil Innes]

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 affect children or adults, disorders that clearly run in families, disorders with a strong genetic predisposition, it's very good.

There is clearly a genetic basis to almost every common disease, which is not to downplay the role of environment that is, of course, significant. Our chance of developing diabetes, cancers, heart disease, etc., are at least in part predicted by our genetics. It's my personal opinion, not shared by all, that yes, we can sequence and find out what some of those variants are right now, but we don't really understand how they all interact with one another to create a risk for an individual. I'm a bit more guarded about that outcome.

We may get to that point, but I don't see that as the usefulness right now. It's more about the risks of strongly genetic conditions.

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

Forgive me if you've already mentioned this, but is this currently being done in Canada on a proactive basis, or is it not?

[Dr. Allan Micheil Innes]

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 Hospital, where they're looking at that, but it's not on the ground clinically in a widespread way in Canada yet. But it will come.

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

There's an ethical part about it, I guess, between being a doctor and everything else, and trying to play God. At the same time, there must be quite a sound case financially to perform some of these tests proactively, whether they're on identified at-risk children, to try to get them the help they need, or at least monitor them before their condition flares up or shows itself. Is that the discussion they're talking about at SickKids?

[Dr. Allan Micheil Innes]

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 children who are presenting with something that's wrong with them and we don't know what it is. In many cases, we don't know what the future is going to hold for them. The idea is that if you can identify the answer more quickly, you can get them on the right path. That may not be a cure, and it may not be a treatment, in the sense of a fancy device. It may be that the child needs an ultrasound or something other children don't need, or perhaps new interventions in the school.

If you do those tests for diagnosis, you may also stumble across other things that weren't the main reason for doing the test but are also relevant for their health. We feel we are obliged to deal with those if they affect their health in childhood.

If we scale it out to the bigger population, you could see at some point asking for this for all children who are healthy before they get sick. We're not there yet, but we need to think about it so we don't do it badly or rush into that.

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

In the United States right now—

[The Chair, Conservative, Joy Smith]

I'm sorry, Mr. Lobb. Your time is up. You asked good questions, but we're a little over time.

Thank you. Sorry about that.

Mr. Chisholm, you're next.

[Robert Chisholm, NDP, Dartmouth—Cole Harbour, NS]

Thank you very much, Madam Chair.

Ms. Micallef, you spoke about the different levels of coverage in the provinces. When I think of health care in this country I think of the real discrepancies that exist from one province to the next in terms of the level of services that are available, as well as the coverage.

I wonder if you could give us some indication, perhaps from both organization's perspective, of what you're doing to help a family who has a child with a rare disease access treatment, resources, and supports, in the ways that you both talked about in your presentations.

Do you help coordinate support? Do you help communicate? You talked a bit in your presentations about how you have various registries set up, and so on, in order to do that.

How do your organizations help these families deal with a family member who has an identified rare disease?

[Jacquie Micallef]

I'm from Neurological Health Charities Canada, so I'm representing a number of organizations. Within our organizations, that type of direct service work absolutely happens.

It's not a rare condition, but an example I could give is the Alzheimer Society. If you're an adult diagnosed with any type of disease or rare disease, especially of a neurological type, all of a sudden your job is in jeopardy. Your ability to provide yourself with housing and your driver's licence are at risk. Transportation is a problem. It's not like being diagnosed with the chicken pox or a broken leg. It is going to be with you for the remainder of your life. A lot of the cases are degenerative, and it affects your life in a major way.

One thing the Alzheimer Society has is a program called first link. It's across Ontario, and now they're trying to expand it nationally. It's a connection between the organization and the diagnosing physician in most cases. Upon diagnosis, the family gives consent for their information to be sent to their local Alzheimer Society, and that's so it doesn't get to a crisis point. The person isn't left scrambling, trying to catch up with what's happening as the disease progresses. You get that support right away.

We see a lot of caregivers burning out. People are being dropped off in emergency rooms. Then we have this huge issue of people being admitted into hospitals and staying in hospitals when they don't need to be.

I would give that as one example.

In terms of the rare conditions, it's really difficult. The organizations are small and the funding base is small. These charities run mostly on donor dollars, and people donate because they're impacted personally by a condition.

As I said, it's a numbers game. When you don't have that many people who know about the disease, it becomes really difficult to get those types of services. It's often up to families, like the example I gave with Rett syndrome. The president of Rett Ontario is the mother of a 25-year-old daughter. She is trying to figure out who has it in her own community, how she can help them, and what they can learn from her experience. It's much more organic.

I'll give some time to Dr. Innes here.

[The Chair, Conservative, Joy Smith]

Dr. Innes, would you like to make a comment?

[Dr. Allan Micheil Innes]

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 mentioned a few times. I heard the number of 17 young women in Saskatchewan. That's a rare disease, but that's still 17 people who can have a focus and a mission.

I see individuals with conditions where there might be 17 people in the world who have it or fewer, or their condition doesn't have a name so there is no group to coalesce around them, and you have to somehow still champion those people. That's really difficult, especially working in an overburdened health care system.

I don't have the final answer, but there are all these pockets of rare islands of people who do need help.

[The Chair, Conservative, Joy Smith]

Thank you, Mr. Chisholm. You've contributed greatly to our committee.

Mr. Lizon.

[Wladyslaw Lizon, Conservative, Mississauga East—Cooksville, ON]

Thank you very much, Madam Chair.

Thank you, witnesses.

The first question I have is for Dr. Allan Innes.

Could you tell us how Orphanet works? I know that it's a portal. It looks like it's more of an informational portal. It exists in many countries. How do you collaborate? What information goes on? How often does new information go on about what's relevant, what's not relevant, and who decides what is relevant and what is useful for people?

[Dr. Allan Micheil Innes]

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 couldn't advise them and say that some disease information looks out of date, or to add this disease or that disease, but that's well organized at a higher level and they constantly curate that information on rare diseases.

For Orphanet Canada, we can do a few things. One, we use the site to advertise activities around rare disease. That can be presentations, café scientifiques, research projects, and announcements. When the minister made an announcement about orphan drugs, we viewed that as a way to get that information out to people.

Also, one of my main jobs as national coordinator is to curate information about the support groups and the clinics that exist. I have a small nucleus, my scientific advisory committee. We need to make sure that information is accurate. It's not enough for a doctor to say, “I'm an expert in that condition.” It's not my job to comment necessarily on the competencies of every physician, but we need to at least make sure that this is true, that this is a safe study, and this is safe information. We look at that and we want to get as many organizations out there as possible, but it needs to be safe.

Basically we're looking at constantly curating that information to make sure it's up to date about what research, what projects, and what registries are happening in Canada.

[Wladyslaw Lizon, Conservative, Mississauga East—Cooksville, ON]

Thank you.

In your presentation you mentioned personalized medicine. My second question is, could you maybe expand on that topic? What is it exactly? Is it based on a genetic code? What is it based on? How expensive is it?

[Dr. Allan Micheil Innes]

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 take even a common disease, like breast cancer, or anything for example, for years the way we had to do it was to develop a clinical trial. We would try a drug on 3,000 women with breast cancer. Some would respond to the drug. For some there might be deadly side effects to the drug. Many people might have been cured by that drug, but because a certain percentage had a bad side effect, the drug was not viewed to be safe.

Is there a way to recognize which of the people are going to respond to that drug because either their genetic code is different or their tumour is different, and which people are going to have a bad side effect to the drug because they have a genetic enzyme or something that doesn't break that drug down?

This is the sort of thinking, that any disease is not one disease, or a disease occurs in the context of a person. You can build other things into personalized medicine—their society, their home, whatever you want it to mean—but it's a recognition that disease is not one big uniform category, but often a subset of diseases, and every patient has to be viewed differently.

It's a change of thinking, so there will be costs to implementing it. Surely a lot of people will think in the end that costs will be saved because we'll be putting people on the right medication and on the right regime at the beginning and not at the end.

This is happening a little bit right now. For common blood thinners prescribed in the hospital, like warfarin, which people often have to take after a blood clot, it's recognized that people break this down in different ways based on their genetics. You can prescribe the drug differently right from the get-go based on some simple genetic factors. So there are some early examples, but we have a long way to go before this is really ensconced in care.

[The Chair, Conservative, Joy Smith]

Thank you very much.

Now we'll go to Ms. Block.

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

Thank you very much, Madam Chair.

I want to thank both our witnesses for being here today.

I appreciate that it could probably be fairly frustrating when you take a look at the scope and magnitude of the work that needs to be done in rare diseases and neurological disorders.

I want to get back to some questions with regard to Orphanet. I have a bit of an understanding now that Orphanet is a repository of information where people, and I don't want to say they dump information into this portal, but it comes in internationally as well as nationally. You said you are the curator for the national information that comes in, or for the national repository. Do you partner with other organizations, like CIHI, or other people who are gathering information, to figure out how you can coordinate what you're doing? I know you said that your aim is to help improve the diagnosis and care and treatment of patients with rare diseases. Other than gathering the information, how do you do that?

[Dr. Allan Micheil Innes]

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 the existence of those registries and to connect the patients with the stakeholders. We are not in a position to maintain registries for 7,000 rare diseases.

I think what we need to think about for those things, and I talked briefly about the International Rare Diseases Research Consortium, IRDiRC, of which Canada is a major partner.... It's a little bit a side of Orphanet, although there are clearly places where these things interdigitate. They had their first meeting in Dublin, which I attended. I'm part of the working group on registries. I think we need global registries on rare diseases, but probably those registries don't contain very much information, the basics: name, gender, a way to identify those people, make sure the diagnosis is correct, so if there are new treatment trials, those people are findable. Then I think it may be up to local groups, local charities, local governments, or provinces to keep whatever deeper data they're able to curate and manage.

Maintaining databases is pretty labour intensive, and I'm not an expert in it, but unless you're able to maintain and constantly update it, you maybe shouldn't get into that business.

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

Thank you.

[The Chair, Conservative, Joy Smith]

Thank you, Ms. Block.

Dr. Fry, you're our last questioner.

[Hedy Fry, Liberal, Vancouver Centre, BC]

Thank you very much, Madam Chair.

I'm going to go back to something that's been niggling at the back of my brain. It's an ethical question. Of course, as a physician you know the non nocere thing, and you don't want to harm anyone. Obviously, if you can help people who have rare diseases, if you can understand what causes the diseases, if you can find treatments for them, if you can put people in touch with others and they can form support groups, etc., this is all excellent.

Given that we can now get somebody's complete DNA profile, is any work being done whereby one can do this in utero through amniocentesis, through some way of taking cord blood, or something from the baby in utero, to look at this? If one is able to say that a child is going to be born with a rare disease, let us imagine the situation where, because rare diseases are going to cost so much to treat or to maintain that person with a healthy lifestyle throughout their life....

Do you remember when people used to say that children who were born with Down's syndrome weren't compatible with life? I'm talking about many years ago. Now we know that Down's syndrome kids grow up and live really happy adult lives. Do you see there being this negative thing where people will start saying maybe we shouldn't...maybe we should consult with the mother to abort this baby. Or maybe if someone is coming up with some DNA profile, the coincidental stuff that we find out turns out to be somebody with a gene that says they're going to be an axe murderer or serial killer. Do you see this kind of thing leading to those negative outcomes?

What are you doing as a group to look at the ethics of this and to find a way to take the benefit from this, while guarding very strongly against non nocere?

[Dr. Allan Micheil Innes]

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 remarkably impressed by the ability of parents to make thoughtful decisions about their children. I think what is often assumed is that if the technology exists, families will always go in a certain direction, and that's not true. Parents very much love their children and they're—