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Proceedings of the Standing Senate Committee on
Human Rights

Issue 11 - Evidence - October 2, 2014


OTTAWA, Thursday, October 2, 2014

The Standing Senate Committee on Human Rights, to which was referred Bill S-201, An Act to prohibit and prevent genetic discrimination, met this day at 8:04 a.m. to give consideration to the bill.

Senator Salma Ataullahjan (Deputy Chair) in the chair.

[English]

The Deputy Chair: Good morning, everyone.

Honourable senators, Senator Tannas has made a written declaration of private interest regarding Bill S-201, an Act to prohibit and prevent genetic discrimination. In accordance with rule 15-7, the declaration shall be recorded in the minutes of the proceedings of the committee.

Welcome to the nineteenth meeting of the Second Session of the Forty-first Parliament of the Senate Standing Committee on Human Rights. We have a mandate from the Senate to examine issues related to human rights in Canada and abroad.

Unfortunately, our chair, Senator Jaffer, could not be here today. In my role as deputy chair, I have the honour of welcoming you to our committee today. My name is Salma Ataullahjan, and I represent Toronto, Ontario.

Before we continue, I would like my colleagues to introduce themselves.

Senator Eggleton: Art Eggleton, senator from Toronto.

Senator Cowan: Jim Cowan, senator from Nova Scotia.

Senator Greene Raine: Good morning. I'm Nancy Greene Raine from British Columbia.

Senator Nancy Ruth: Nancy Ruth from Toronto.

Senator Eaton: Nicole Eaton from Toronto.

The Deputy Chair: We're here to begin our hearings on S-201, the proposed ``Genetic Non-Discrimination Act,'' a private member's bill introduced by Senator James Cowan, the Leader of the Opposition in the Senate.

To begin our hearings today, I would like to welcome, from the Office of the Privacy Commissioner of Canada, Daniel Therrien, Privacy Commissioner of Canada; Carman Baggaley, Senior Strategic Policy Advisor; and Patricia Kosseim, Senior General Counsel and Director General.

I understand that you have some remarks to present to us, and after that you will be able to answer the senators' questions.

Daniel Therrien, Privacy Commissioner of Canada, Office of the Privacy Commissioner of Canada: Thank you very much, Madam Chair and honourable senators.

[Translation]

Thank you very much for inviting us to appear this morning in order to express our opinion on Bill S-201, An Act to prohibit and prevent genetic discrimination.

I would like to thank Honourable Senator Cowan for introducing this bill, which addresses a very important topic. The protection of genetic information has been one of our office's policy priorities over the past few years. In July of this year, we released a statement on the use of genetic test results by life and health insurance companies.

Our statement urges the life and health insurance industry to, and I quote:

[. . .] expand its voluntary moratorium, that currently calls on its members to refrain from asking applicants to undergo genetic testing, to also refrain from requesting access to existing genetic test results until such time as they can be shown to be demonstrably necessary and effective.

Let us get back to Bill S-201. The legislation's overall objective is consistent with our statement — it recognizes that genetic tests reveal highly sensitive information, which merits special protection — but it goes much further.

Whereas we have called on the insurance industry to refrain from asking for access to existing test results until such a time as they can be shown to be demonstrably necessary and effective, Bill S-201 would create an indeterminate statutory prohibition.

The bill proposes to prohibit any person from requiring an individual to undergo a genetic test or disclose the results of a genetic test as a condition of providing goods or services to, or entering into a contract with, the individual. This would apply to a broad range of organizations, including those that are part of the life and health insurance industry.

[English]

As we note in our statement, individuals may undergo genetic testing for many reasons. Testing may be for valid, clinically established medical purposes, but people also get tested for research, to establish paternity, for family planning purposes, to discover more about their ancestry or out of curiosity.

The insurance industry believes it needs access to all existing genetic test results to ensure a level playing field in terms of knowledge between both parties of a good faith contract. However, for the vast majority of genetic tests, the ability to predict health and life outcomes with any reasonable degree of certainty is still relatively low at this time. Even in the case of rare monogenic disorders, for which genetic test results may be highly probative, the economic impact of banning industry access to the smaller subset of cases is currently the subject of healthy debate among qualified actuarial experts.

Bill S-201 recognizes the overriding societal benefits of protecting applicants' rights to privacy and of providing all persons with insurance coverage regardless of their genetic heritage. We are also encouraged by the government's commitment in the Speech from the Throne to prevent employers and insurance companies from discriminating against Canadians on the basis of genetic test results.

So I welcome the public debate that Bill S-201 inspires, but if legislation is not forthcoming, my office would urge the insurance industry, patient advocacy groups, the federal and provincial governments and other interested parties to work together to come up with a non-legislative binding solution, such as exists in the U.K., for example, to ensure that genetic information is adequately protected and used only as appropriate and necessary.

That concludes my opening remarks. I would welcome questions from honourable senators.

Senator Cowan: Welcome and thank you for your interest and involvement in this topic and for your presentation this morning.

Your office has identified and taken the position that one's DNA is qualitatively different than one's medical history. Can you explain how and why you draw that distinction?

Mr. Therrien: Certainly DNA is extremely sensitive information and deserves high protection. The reason for the distinction I may ask perhaps Ms. Kosseim to explain.

Patricia Kosseim, Senior General Counsel and Director General, Office of the Privacy Commissioner of Canada: The commissioner identified the rationale behind our interest in the area of genetic information. It is based predominantly on its sensitivity.

Senator Cowan: You have read the statement that the insurance industry published last week.

Mr. Therrien: Yes.

Senator Cowan: Does that meet your concerns?

Mr. Therrien: There are positive aspects to this declaration and the code that was published, for instance, in terms of the information that would be provided to consumers in that area. But we note that the insurance industry still believes that it needs access to all genetic results to achieve good faith contracts, in their opinion. We still have concerns with that because we think that at this time it is not something that would be necessary or effective. When we look particularly at fundamental principles under PIPEDA, the legislation that we administer, we think that there are difficulties with having access to all genetic results.

Senator Cowan: My next question has to do with that. Perhaps you could explain why you believe that the existing legislation does not provide adequate protection for Canadians in this area.

Mr. Therrien: I'm not sure we have said that PIPEDA does not provide adequate protection. Bill S-201 certainly would go much further than PIPEDA. Our position so far has been to look at the requirements of the insurance industry as against the current text of PIPEDA. It is with that perspective, looking at the fundamental principle of PIPEDA, that organizations and companies should collect information only when reasonable and when that information will be effective in achieving a legitimate business purpose. That is when the information in question should be collected.

It is that frame of analysis that we are applying under current law. It is under that frame of analysis that we're suggesting to the insurance industry that at this time, given the level of advancements in science, that they may wish to abstain from requesting existing genetic results from potential insured applicants.

Senator Cowan: Yet their position, which they issued last week, clearly says that they will continue to do that.

Mr. Therrien: Indeed; and we have a problem with that position.

Senator Cowan: My point is that you would agree that the statement issued by the insurance industry last week does not meet the concerns you have identified as one of your priority areas.

Mr. Therrien: Exactly, yes.

Senator Eggleton: There's been discussion about the terminology of predictive versus diagnostic genetic tests. Predictive means that it is in your genes and a part of who you are, and so you may face some issues down the road. Diagnostic is at the time an illness occurs. In addition to trying to determine the basis of the disease, I suppose other information could be divulged in that.

The question is: Where do we draw the line in this, if we do? Some countries apparently have put both predictive and diagnostic genetic testing into their legislation. I am told that Austria, Belgium, France, Israel, Norway and Portugal all do that. They don't make the distinction.

The industry says that the premiums would go up substantially if they don't get this information. They feel they have to have this information. I don't see why that would be, particularly in the predictive case, something that would change the premiums because there hasn't been that much of it done to date. It is still early days, I would think, in terms of these predictive tests being plentiful. I wonder if you might comment on this matter of predictive versus diagnostic, particularly in view of what the industry as told us at the last meeting.

Mr. Therrien: If I may, I will address the question at the general level and then ask Mr. Baggaley to complete my answer.

I will deal personally with the issue of the impact on premiums of a policy of allowing or not allowing the use of genetic testing. You have heard from the insurance industry and I believe from the Canadian Institute of Actuaries. Those are certainly reputable organizations of the view that imposing a ban would have that impact; but there are others who are of another view. That's why I said in my opening remarks that there's a healthy debate between actuaries as to whether imposing a ban would actually have that impact on premiums. I just note there does not seem to be a consensus on this issue among the experts.

I will ask Mr. Baggaley to answer specific questions about the different types of tests.

Carman Baggaley, Senior Strategic Policy Advisor, Office of the Privacy Commissioner of Canada: You commented that several countries have included both predictive and diagnostic in their bans or in their moratoria, and that's correct.

The United Kingdom's moratorium applies only to predictive tests. That partly explains the difference in the results we have seen from the CIA study that predicted very significant premium increases. The study we commissioned suggested that the impact on the industry would be very modest.

In a significant number of cases, people get a diagnostic test because they're already showing symptoms and the diagnostic test is to confirm, as the name suggests, a diagnosis. Since insurers have access to medical records, when you apply for insurance, you have to consent to that. We're not suggesting that they should not have access to medical records, nor are we suggesting they shouldn't have access to family history. In the vast majority of cases, they should be able to get the information that they need there.

We're primarily concerned with not just their access to predictive tests but, beyond that, the vast range of tests that in fact tell you nothing about your risk. The CLHIA position doesn't clearly say they can't collect information that goes to your ancestry, which has nothing to do with risk. So what we're asking is that the industry be much more nuanced in terms of the information they request.

Senator Eggleton: Another thing the industry said was that they're concerned that people will have these tests done — and here I am talking of the predictive nature — won't disclose it, and then go out and buy lots of insurance because they found out something that's in their history that may produce a problem later on. They go out and buy tons of insurance. This bill, though, does provide for an exemption for a policy in excess of $1 million that may pay a benefit of more than $75,000 a year to try to stop that kind of thing from happening. Do you have any comment on that? Do you think that's a sufficient barrier to prevent people from going out and taking advantage of a situation the insurance industry is concerned about?

Mr. Therrien: Here again, there are different views from experts on what will be the behaviour of individuals with or without a ban. I have heard that view through discussions with the insurance industry. In their view, people will buy a lot of insurance after knowing the results of genetic tests. Other experts that we have commissioned appear to be of the view that that kind of behaviour would not occur. Again, there's a difference of views among experts on that point.

Senator Eggleton: There is the exemption in this legislation that helps curtail that kind of thing. Thank you.

Senator Eaton: Educate me. When it comes down to predictive DNA testing, what is the impact of lifestyle on DNA? If I'm carrying a marker, will my lifestyle change that? Can you give me a percentage?

Ms. Kosseim: I will try to answer your question in one of two ways, and you let me know if I have addressed it.

We don't know the impact that a genetic test result will have on lifestyle changes. Other people who research this question may be better positioned to respond what the behavioural changes in terms of lifestyle would be on a confirmed test result. Some may respond in a defeatist way or fatalistic way, and some may change their lifestyle aggressively in order to try to improve their health prognosis or risk.

If I understood your question in another way, in terms of the percentage of influence that lifestyle may have on a condition versus DNA, that depends on the condition precisely. Some are highly determinative based on the genetic marker itself, monogenic diseases.

Senator Eaton: No matter what you do, you are going to come down with it?

Ms. Kosseim: That's right. Those are the ones that are very highly probative. The vast majority of common disorders are multifactorial where the genetic marker is just one factor among many other lifestyle or health factors, such as nutrition. Therefore, that's where the discussion and debate really turns, on these multifactorial disorders, where the genetic test result itself is not as relevant, certainly not necessary from an actuarial risk perspective, because there are so many other conditions at play.

Senator Eaton: It is a very complicated issue. Obviously there's no real answer.

Are there only really a few genetic conditions for which accurate tests have been developed?

Mr. Therrien: That is our understanding, yes. The number may range, again depending on the views of experts, but we're talking about very few, perhaps between six and twelve or so.

Senator Eaton: Do you have a list of which ones are perhaps accurate?

Mr. Baggaley: There is a list in the study that was commissioned by the Canadian Institute of Actuaries. They identify 13. They even attach probabilities in that table. For example, they will indicate that if you have a genetic marker, on average, what is the likelihood that you will develop a certain condition? It is a sliding scale.

The one extreme, which is usually used as the most dramatic example, is Huntington's, in which there is a very high likelihood that if one parent has it, it will be passed on to their offspring and, if you have that, there is nothing you can do in terms of lifestyle to prevent the onset of that disease. That's the one extreme. Once you go from there, it tends to be a sliding scale.

At the other extreme, some of the direct consumer genetic testing companies will claim that they can tell you that you have a 3 per cent greater risk than average of developing a condition, so it really is a sliding scale.

Senator Eaton: Could you send us that list?

Mr. Therrien: Certainly.

Senator Eaton: Thank you.

Senator Andreychuk: You are talking about a sliding scale, but isn't it based on the fact that we're moving very quickly in DNA testing? That is still a very new field. Second, it is dependent on medical research. We're finding out more and more about the conditions. When you say today there are six to twelve, there may be more tomorrow, or different ones. We're in the middle of some process with DNA, and we're certainly continuing, I think in dramatic ways, and moving to learn more about these diseases and what may be the probable causes. This is a snapshot in time, is it not?

Mr. Therrien: You are absolutely correct, which is why our statement is prudent and recognizes that science will evolve. It says that, at this time, it appears to us that it would not be appropriate for existing test results to be collected by insurers, given the level of development of science to date.

In other jurisdictions, in the U.K., for instance, and other countries where there is not a prohibition or a ban but a moratorium, the moratorium suggests or implies that science may evolve, and the moratorium implies that there will be a review that will evolve over time. In the U.K., the system is based in part on a review by a committee of experts approved by the government that recognizes that science will evolve and that what is not very accurate today may be more accurate tomorrow or next year.

Senator Raine: It is a fascinating study, and one that needs to be done.

I'm not familiar with insurance companies and how they work and if there is existing legislation with regard to whether they must give you insurance and you must disclose. It seems to me that when you have a contract there is onus on both sides. Is it necessary that a person who is applying for insurance and may have information that is not in their medical records or their family history must disclose that when they apply for insurance?

Mr. Therrien: I will ask my colleagues to complete this, but what we have from the insurance industry, from the association that was before you, is advice to individual companies seeking to advise companies, ``Do not require applicants to undergo genetic testing if they have not already done that.'' So that should result in a certain outcome in terms of the behaviour of insurance companies, but that advice does not apply to the collection by individual companies of existing genetic test results. So the association leaves individual insurance companies free, according to their own assessment of the situation, to require, or not, existing test results before they accept to provide insurance to a given individual.

At this point, given the advice given by the association to individual companies, it may be that some companies will require applicants for insurance to provide existing genetic test results in order to be insured.

Senator Raine: Where would they get these results?

Mr. Therrien: We're looking here at individuals who have obtained genetic test results for any reason that we have referred to, either out of curiosity, to determine ancestry or for other purposes. So the test has already been done because the individual wanted to, not for insurance purposes. It may be, under the current law and under the advice given by the association of insurers to individual companies, that an insurance company will say, ``We will not require a new test, but tell us,'' applicant for insurance, ``whether you have undergone genetic tests before. If so, we want to see the results of that test.'' So the test is undergone for reasons unrelated to insurance. But under the current state of the law and policy, an insurance company could require an applicant to provide the results of tests already undergone.

Senator Raine: I want to be clear here. If somebody gets a genetic test done, the results belong to them.

Mr. Therrien: Yes.

Senator Raine: They are not in their medical records, which are available to insurance companies. The results of genetic testing are kept private. The genetic testing company does not have the right to give those results to anyone unless the owner of the results, being the person tested, allows them to. Am I correct?

Mr. Therrien: A company could first ask the potential applicant, ``Have you undergone genetic testing? If so, we want to see the results.'' So, yes, at the starting point, we're talking about test results that belong to an individual, which are under the control of the individual and may not have been given to anyone else, including a doctor, potentially. However, the tests and results exist, and an insurance company, as I say, could ask the applicant, ``Have you undergone these tests? If so, we want to see the results.''

There is no rule that prevents an insurance company today from requiring such tests and, if the tests are not forthcoming, from refusing insurance to the potential applicant.

Senator Raine: I would suppose that if you were in a situation where you had undergone genetic testing and your genetic prognosis was very good, you would have no issue with releasing that to the insurance company.

Mr. Therrien: Potentially.

Senator Raine: However, if you had information from genetic testing that gave you knowledge of the future that you wouldn't normally have and you might then refuse to give that to the insurance company, then they would refuse to ensure you.

Mr. Therrien: Correct.

Senator Raine: I guess I look at it and say that it's kind of like buying a lottery ticket and already knowing the answer, so you might buy a lot more. It prevents the insurance companies being taken advantage of, if you like, because one party of a contract has information that impacts what you're purchasing. I think the crux of the issue here is to come up with something that is fair to both parties in the contract. It's a dilemma.

Mr. Therrien: I will ask my colleagues to complete this, but, obviously, here we're talking about the view of insurers that information that applicants have should generally be given to the insurance company. That's the good faith argument. For certain medical conditions, these genetic tests may be highly probative, but, at this point in the development of the science, there are very few. So for most genetic testing, the probative value of the test is very low.

At this point, the insurance industry apparently wants to be able to assess for itself, to have the genetic tests of any condition, whether the genetic test is probative or not. The industry wants to be able to assess the probative value of the tests or not.

We're saying that because at this point in the development of the science it is only for very few conditions that these tests are probative, there should be stricter rules. The insurance industry should require these tests in a much narrower set of circumstances than they would apparently be able to do under their policy announced just last week.

Senator Raine: Thank you very much.

Senator Cowan: Senator Raine, just to follow up on that, that's precisely the point. Surely it's because many of the tests are not probative. You have, on the one extreme, the Huntington's gene and then others that may indicate something. There may be something that one can do to change one's lifestyle that would reduce even further the risk of developing whatever the condition it is. Is it not precisely for that reason that you're saying that the limited scope of the insurance industry's policy does not go far enough to protect the privacy concerns that you have identified in your position? Is that precisely the point?

Mr. Therrien: Correct.

Senator Andreychuk: Just to follow up on that, we're talking about the DNA testing and using those results, but there are a whole bunch of other things that occur now so that you know your pre-existing conditions. You go and do it unrelated to insurance, and you find out that you might be a suspect for arthritis. When you go to get insurance and they ask whether you know of any pre-existing conditions, you have to answer those questions. Why are you not concerned about the privacy there, when you are on the DNA side?

Mr. Therrien: It goes back to the highly sensitive nature of the information itself.

Ms. Kosseim, do you want to expand?

Ms. Kosseim: In essence, we need to go back to the first question. If we're going to equalize the knowledge on both sides of a good faith contract, we have to go back to the question of, ``What do you know?'' In the case of these genetic test results, many are obtained in the context of a clinical setting, with the assistance of a physician or genetic counsellor.

Given the increased accessibility of these tests, even over the Internet as we read this morning, 23andMe will make available genetic tests for 108 conditions for $199. The question is: What relevance does that have from a privacy perspective for legitimate business needs?

We always go back to that first question. We want to balance the right to the privacy of individuals in a good faith contract with the legitimate business needs of the industry. What we're questioning and challenging the industry to demonstrate is whether or not the information is necessary and relevant for actuarial purposes.

They may rise to the challenge and demonstrate that for a certain number of conditions for which genetic test results are highly probative. Certainly, individuals will be able to access the results over the Internet for those 108 conditions, but there are not 108 conditions for which access to that information is necessary or effective at this time. We are urging the industry to examine much more critically why it needs access to this information and to demonstrate it. If we do that, we will whittle down from 108 conditions to a much smaller set of circumstances where that information is actionable and relevant from an actuarial perspective.

Senator Andreychuk: That wasn't my question. I'm not at this time going to dispute your logic for picking out the DNA testing. But now you can get other kinds of tests, not DNA, and end up with the same result. Maybe you will get a condition genetically or maybe you will get it because you have a predisposition. You haven't raised that as a privacy concern in this fair balance. I wonder why you're putting the marker down with DNA and you didn't put the marker down earlier with other types of medical testing that may or may not be necessary for insurance purposes.

Ms. Kosseim: Thank you for reframing your question. For a lot of these other conditions, it's fair to say that those are diagnosed in the context of a physician-patient relationship, typically in a medical record where that information and its relevance are taken in context in terms of the overall health diagnosis.

In the case of genetic testing, what we're most concerned with is when you get access to those test results outside clinically well-established contextual conditions of the doctor-patient relationship, in another context where you don't have that professional expert contextualization of the information. You can get it directly over the Internet for multiple purposes, as we mentioned several times.

You can also get it in the context of research, as you mentioned; and everyone is supportive of the importance of research precisely for advancing genetic science. Even the results in a context of genetic research will not necessarily be as probative and may never make their way in the medical record precisely because even researchers concede that they don't know yet the clinical validity or utility of this information. They're still trying to figure that out, so it won't have that same relevance from a medical perspective and may never make its way into the medical record.

Going back to your example of the arthritis condition, all those other risk factors, when they are contextualized in a medical doctor-patient relationship, are fair game. It's when the non-contextualized information is obtained without this assessment we worry about whether it's necessary or legitimate to collect.

Senator Andreychuk: If the DNA was in a medical context, you would have no difficulty with it. You have difficulty with it if you get your DNA testing for other reasons.

Ms. Kosseim: As my colleague said, we are not taking a position on access to medical records, which is currently the case. We're not taking issue with access to medical records.

Senator Eaton: Mr. Therrien, as the Privacy Commissioner you oversee the handling of health information by insurance companies. Do you have enough power to do that? Do you have everything you need to do that?

Mr. Therrien: The purpose of the statement we made was to indicate our position on this issue with the basic principle under the existing PIPEDA that organizations should only collect where it is legitimate and efficient.

There is authority for the Privacy Commissioner based on complaints eventually if people were to be refused insurance. If the potential applicant felt that the request made by an insurance company was inconsistent with PIPEDA, the person could make a complaint, and we would review that complaint based on our research and on the information we would obtain from the complainant and the insurance company in question. I'm not without authority to look at this question.

Senator Eaton: Could you force the insurance company to give the person insurance?

Mr. Therrien: No, I could not.

Senator Raine: I want to go back to the concept of a good faith contract. An evaluation of whether I give you insurance requires an understanding of knowing what you know to be in good faith. If a person withholds information from an insurance company and receives insurance on that basis, knowing they had a precondition that they did not disclose, what is the obligation? When that person becomes ill with a disease that they find out somehow the person knew about, will that insurance be null and void because they did not disclose?

I presume that there are different categories of disclosure for different kinds of conditions. I want to find out what makes insurance null and void for lack of disclosing genetic information.

Ms. Kosseim: I'm not an insurance law expert, but I think you've raised the important question: If there is knowledge on the side of the applicant that is not disclosed when asked, there is a risk that the contract would be null and void.

What we're discussing here is whether the insurance companies temporarily, permanently or by which form should even ask the question. We're challenging the insurance industry not to ask the question at this time; and if they don't ask it, then there is no obligation to disclose. We're looking at the question one step behind and whether the question should even be put to the insurance applicant. We're saying at this time that it shouldn't, in fairness.

Senator Raine: There is nothing currently stopping the insurance company from asking, ``Is there anyone in your family with Huntingdon's disease?''

Mr. Therrien: There is not.

Senator Raine: That has a genetic marker, I suppose.

What other probative genetic diseases could you ask about?

Mr. Therrien: As we've indicated, there is a short list of six to thirteen conditions, which we can provide to you.

Senator Raine: I don't need that. There is nothing to prevent an insurance agency from asking if anyone in your family has or do you know if you have genetic markers for this, this, and this? You're limiting the questions to only those diseases with genetic markers that we know about right now.

Mr. Therrien: Currently, there is no prohibition on an insurance company to ask that type of question.

We're saying that because of the lack of reliability of these tests in actually predicting whether the condition will materialize or not, it should not be asked certainly when that lack of predictability exists. The number of conditions is so small where tests are probative that we do not think that asking the question is a necessary element for the insurance industry. The advice we received from experts we have consulted is that this will not have an important impact on the financial bottom line of the insurance industry at this point in time. It could evolve. There could be many more conditions in two or five years when tests would be more probative, and then we would have to reassess.

Senator Raine: To me, it doesn't seem fair that one party could have information that materially affects or could affect or change the odds, if you like, when they're going into a contract. If that goes on, there will be harm done to the other side of the equation and it could risk the ability to get insurance for everyone.

Mr. Therrien: It is certainly conceivable for a small number of conditions. For a small number of conditions, the tests have highly probative value, and for those few conditions, you could argue that it would be reasonable for the insurance company to ask for this.

The reality overall is that many medical conditions exist and for the vast majority of them, at this point of the evolution of the science, genetic testing is not reliably determinative of whether the condition will occur or not. It is in that context that we're saying that, overall, even though a person may have the results of a genetic test which indicates a higher probability of a certain condition other than the six to thirteen, that test is not highly probative.

The individual has some information, but that information does not equate to knowledge that the disease will actually materialize. Is that reasonable? Is there an absence of good faith in giving information about the results of a test which is not probative? We do not see that as being something that should be disclosed and that would affect the good faith of the potential applicants when the test is not determinative of whether the condition will occur or not. But conceivably for the few conditions where tests are probative, the situation could be different.

Senator Raine: Has the word ``probative'' been defined by the medical profession or the insurance profession? To be on the list of probative conditions, is that defined in law?

Mr. Therrien: I'm not sure if it's defined as such.

Ms. Kosseim: It's a relative term and it is expressed in percentages. ``Highly probative'' could be anything from 99 to 100 per cent certainty that the condition will develop over the course of a person's lifetime. Probative is expressed in terms of percentages, so it could range from 2 to 3 in some conditions, up to 100 in others.

Senator Raine: Is there a line that insurance companies could use where they say, ``Above this predictive level, it will affect us materially?''

Mr. Therrien: The likelihood of whether the test reveals a condition that will materialize is not a black and white issue. It is relative.

Senator Raine: It's the job of the actuaries to try to figure it out.

Mr. Therrien: It's in part actuaries; it's in large part medical evidence.

Mr. Baggaley: I think the question is this: Are there enough of these conditions such that the impact on the industry would be dramatic? It really depends on, and this is a subject that one can debate, how individuals would respond if they have this information and the insurance company doesn't.

The actuarial study assumed that individuals would respond in a certain way. When asked why individuals in Europe didn't respond this way even though we've had a ban in place for 20 years, the response is, ``Well, the situation is different in Europe.'' If individuals would respond in this way in Canada when they have this information and insurers don't, the question is why individuals in Europe haven't responded that way. That's the crux of the question.

Senator Cowan: I think you've answered most of my questions and clarified one in response to Senator Raine. The point is that there is nothing here that would prohibit or inhibit an insurance company from asking about existing conditions that a potential insured would have — family history, history of Huntington's or heart disease or cancer or anything like that. They ask that information now, and there is nothing in this bill that would inhibit their ability to ask that in the future. We're not talking about a condition that a potential insured has. We're talking about the possibility or probability that that person will develop that condition in the future. If they have the condition at the moment, whether it's arthritis or cancer or Huntington's disease, then obviously you have to disclose that information. We're not talking about that, are we?

Mr. Therrien: No, we're not.

Senator Cowan: In Britain, where there is a moratorium, there is one test or one condition — and I'm not sure about the correct terminology — which is Huntington's disease. They are entitled to ask that question in Britain.

Mr. Therrien: That's the current state of affairs in Britain, yes.

Senator Cowan: There is a regulatory regime that would enable the insurance companies to say, ``Medical science has developed, so we now want the ability to ask about X.'' The regulators could say, ``Well yes, it's developed, and we agree that now you can not only ask about Huntington's disease but you can ask about this or that.'' It's a fact that although they have had this moratorium in place for 14 years in Britain, the insurers have not felt the need to apply for the right to ask questions about additional conditions. Is that your understanding?

Mr. Therrien: That is our understanding.

Senator Cowan: One would expect that if the insurance industry in Britain were being impacted by this, they would have said, ``Hold on here. We now know that the probative value of this test is now sufficiently strong or accurate that we want to apply to have that added to the list along with Huntington's disease.'' The fact they haven't done that tells us something, doesn't it?

Mr. Therrien: One would, yes, conclude that if the ban except for one condition affected the industry's financial bottom line, they would have made an application for more conditions to be tested.

Senator Cowan: Exactly, and they haven't.

Mr. Therrien: They have not.

The Deputy Chair: Thank you very much.

I would like to introduce our next panel of witnesses. We have with us Dr. Yvonne Bombard, PhD, Scientist at the Li Ka Shing Knowledge Institute of St. Michael's Hospital and Assistant Professor at the Institute of Health Policy, Management and Evaluation of the University of Toronto; and Dr. Ronald Cohn, Co-Director of the Centre for Genetic Medicine and Senior Scientist at The Hospital for Sick Children and the Department of Pediatrics and Molecular Genetics at the University of Toronto.

I understand that you have some opening remarks to present to us, and then you will be available to answer the committee's questions.

Dr. Ronald Cohn, Co-Director, Centre for Genetic Medicine, Sr. Scientist, The Hospital for Sick Children, Department of Pediatrics and Molecular Genetics, University of Toronto, as an individual: Thank you very much for inviting me to talk about my personal experience, as well as the experience of my colleagues. Probably most importantly, thank you for taking the time to even discuss this issue. It is very important and very critical to me personally as a clinician. I'm also the Chief of the Division of Clinical Genetics at Sick Kids, so what I'm going to talk to you about is the experience I have had over the last two years when I moved from the United States and was recruited to head the division. I will tell you that I was surprised how many different discussions I had with families and patients about this issue of genetic discrimination, more so than I ever had in all of my years of practice.

I have decided to give you three brief cases as an example, and the reason why I chose the cases, as I'm going to present them to you, is that one is going to address a predictive testing issue, which I think Senator Eggleton brought up. There are things I would like to discuss as we go along.

One case is dealing with a patient who actually needed a diagnostic test, and then I will tell you about our experience of a research study that is currently looking at whole genome sequencing, which really is the test that is going to be available, in my prediction, two to five years from now.

The distinction between a predictive and a diagnostic test is going to disappear over the next few years. We need to address both of those.

The first case was one of my colleagues' — I didn't want to come here and just tell you my own experiences — about a little girl with a father who has a genetic condition that causes cardiomyopathy, which is a disease of the heart muscle. It is so severe that the father is currently on the list to receive a heart transplant.

The family came to our clinic because the daughter wanted to explore whether she should do genetic testing. During the conversation, we discussed the issues of genetic discrimination in Canada, and the family actually went to call the industry and said, ``What do you think? Should I get genetic testing for my daughter?''

The advice the family received was the following: They said, ``There's a 50-50 chance that this may turn out well, and, if she's negative and doesn't carry the gene for this heart muscle disease, she will be insurable. You should go ahead and do this test.''

The family came back to our clinic quite distraught, not knowing what to do because it is a 50-50 chance. I will be honest with you, we actually counselled them against testing at the moment and toward first trying to go through the process of comprehending all of the information and the entire potential outcome that testing could have on the child. The decision of whether they want to move ahead or not has still not been made by the family.

I would like to point out here that the father was diagnosed not knowing that he carried this gene. One day, he just fainted, went to the hospital and got an ultrasound of the heart, and they found out he had a severe heart muscle disease. If we knew whether this young girl had the disease, we could probably prepare or even manage her well enough to at least prevent, for a very long time, a heart muscle transplant. I don't want to tell you we could for sure, but there is probably enough management available for such patients that we could prolong her disease as much as possible. It will be a theme you will hear from me until the end.

The second case is about a family I saw personally in my clinic where we discussed the issue of diagnostic testing. Again, it was a 12-year-old girl who came with features of what we call a connective tissue disease. It is a child who was very bendable, to say in non-medical terms, had low muscle tone and had a history of an ultrasound of a heart where not the heart but the main artery coming out of the heart was slightly enlarged. That is a feature of two prominent diseases. One is called Marfan syndrome, which many of you probably have heard about; and one is called Loeys-Dietz syndrome, which is a rarer form of a connective tissue disease but a very different and aggressive disease. We recommended genetic testing for both of those because she didn't fit clinically to meet one or the other. We told the family that the parents would have to get tested as well, because there was a suspicion that the father also had a slightly enlarged blood vessel coming out of the heart.

The father was very quick to understand: Well, if I do this and I don't have life insurance and long-term disability insurance at the moment, I won't be able to get it if I have the disease. So we had a long conversation about this. The family still today, and it's been over six months, hasn't been able to come back to me and do the test.

What is the problem here? Both of these disorders are life-threatening. One you can treat quite well with the medicine, Marfan syndrome, while the management for the other disorder, Loeys-Dietz syndrome, is vastly different. Very often you have to perform surgery of the blood vessel early on to prevent sudden death.

We learned about the disease several years ago that patients just dropped dead with what we thought was Marfan syndrome, but we found out through genetic scientific experiment that it is not Marfan syndrome but a much more aggressive disease. The management for me as a clinician is vastly different. I can't manage the child. In fact, I have the child come back frequently for echo cardiograms of the heart to make sure that everything is in place until the family decides to move forward and I know which disease I'm going to deal with. That's a cost not for the insurance companies but for the health care system that potentially could be avoided. It might not, but it could. I'm kind of stuck in the situation.

The last example is that the technology is here and ready to sequence every piece of our genome. This technology is not just technically ready but also financially at a point where it is in part cheaper than many other tests we are doing.

When I came to Sick Kids, we started a research study on whole genome sequencing to children at the entire hospital, not just genetic patients in our division but to the entire hospital, simply to see what we can learn and how we can deal with the information. The distinction between a predictive test and a diagnostic test is gone because you look for everything. It means that you find something diagnostic for a patient who has a problem, but since you look for everything, you find everything. You find secondary findings that then generally are predictive in nature.

We asked 330 patients and their families to participate in our study. I would like you to appreciate, please, that these are all families who have very sick children. They all have children with a lot of medical problems. Over 33 per cent declined to participate in a free research study because they were afraid of genetic discrimination. I have to tell you that I find that an alarming number. These families, in part, have tried to go through diagnostic odyssey for years and years, and here I am able to offer them something that likely will give them an answer; but they are declining because they are afraid of genetic discrimination.

The last point I will make is that there were a few discussions, and I hope we can have them, about lifestyle changes and so on. Many of the genetic diseases we are dealing with don't have a magic bullet, as yet, with which you can treat; and that's something the insurance companies are afraid of. As much as we have made our strides and developments in diagnostic sequencing of the genome, a whole new area is developing as of now, which I promise you will provide treatments for lots of the patients in my clinic within the next 5 to 10 years. I'm convinced of this. You can ask other experts outside Toronto who will agree with me. If I can't make a genetic diagnosis for these children, I won't be able to design any of these individualized therapies that will actually treat the primary genetic defect of many of the patients I see.

Yvonne Bombard, PhD, Scientist, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Assistant Professor, Institute of Health Policy, Management and Evaluation, University of Toronto, as an individual: Good morning, and thank you for the opportunity to provide some comments on what I think is a landmark bill.

By way of background, I'm an interdisciplinary genomics and policy researcher with expertise in genetic discrimination. My PhD focused on genetic discrimination and I began my research career in this domain.

I was inspired to do my research after witnessing the difficulties and challenges that individuals undergoing genetic testing for Huntington's disease had been experiencing with securing insurance and maintaining their employment. It was striking that my very first exposure was in the Huntington's predictive or genetic testing clinic. My very first patient interaction was with an individual who came back after genetically testing positive for the Huntington's disease mutation, came back to discuss with a psychiatrist the challenges he was having at work. After his supervisor had discovered his gene mutation status — his predictive future increased risk for developing the disease while he was currently asymptomatic — his job responsibilities started to shift.

At that moment, I was struck by the fact that the psychiatrist couldn't advise him because there weren't any protections or avenues for recourse to do anything about this. I remember that being a pivotal moment at the beginning of my early graduate studies. I remember running to the bathroom at that clinic to ask both my supervisor back in British Columbia and some legal experts in Toronto at the time whether there were protections in place for this kind of genetic discrimination. In fact, that became the reason I began the work in this field. I began to study, on a national scale, the nature and extent of genetic discrimination in Canada.

With colleagues across Canada, I conducted the first study that we have to date to provide national evidence of the experiences and concerns of genetic discrimination in order to provide evidence and to inform policy discussions, such as the ones we're having today.

The national study was a cross-sectional mailed survey. The survey questionnaire was based on qualitative interview work that I conducted across the country, meeting with families that were at risk of Huntington's disease but were not exhibiting signs and symptoms — were asymptomatic — in order to understand and appreciate what genetic discrimination meant for them, what their perceptions were and how it manifested in their day-to-day lives in order to design an accurate survey questionnaire to measure the nature and extent and the distribution of the issue across the country.

We targeted, through the survey, asymptomatic patients who were at risk for Huntington's disease by virtue of the fact that one of their family members was currently exhibiting signs and symptoms of Huntington's disease. We focused on individuals who were asymptomatic so that we could target the issue of genetic-based discrimination, being treated differently or unfairly based on genetic information, as opposed to signs and symptoms of the disorder, which could potentially complicate or confound the issue of genetic discrimination scientifically in the way we are trying to address it.

We stratified our sample to look at both individuals who had chosen to undergo genetic testing for Huntington's disease and those who were at risk for Huntington's but chose not to undergo testing so that we could examine the differential impact of genetic discrimination based on genetic test results versus family history information. With collaborators in seven clinics across the country, we were able to recruit our sample, which was participating in ongoing observational studies or genetic testing.

What I found by interviewing these families across the country — and I'm on the slide that says genetic discrimination is multifaceted — was, in fact, that. Genetic discrimination, in the descriptions and the experiences of these families, actually spans beyond insurance and employment. For the sake of comprehensiveness, I wanted to run through those settings, but then will move quickly into focusing on insurance and employment.

They spoke about, within the family, disruptive patterns of behaviours and interaction and communication within the family that were perceived because of them, based on their genetic test results. They also spoke — within the insurance setting — that they were rejected life insurance, were asked to have their premiums increased, their costs of their insurance policy increased because of the genetic test results, and were actually asked by insurance agents to undergo genetic testing in order to qualify for their insurance policies.

Within the employment setting, as I alluded to in my opening remarks, these participants spoke about how they have had experiences of being under increased surveillance at work because of their disclosure or because the supervisor found out their genetic test results. They have also had promotional denials because of their results or were, in their perception, imposed to retire early because the results of their genetic tests were disclosed.

Within the social domain, people spoke about relationship rejection and avoidance.

Within the health care domain, they spoke about experiencing altered medical management and very directive counselling about reproductive planning from medical professionals that they felt was a cause of their genetic test results as well of the fact they're at risk for the disease.

Within the public policy or government domain, they experienced adoption denial and difficulty in obtaining custody and access to children.

The next slide presents these issues and the distribution of these issues among a nationally representative sample of this population. The study was able to provide for the first time evidence that genetic discrimination was prevalent, as 40 per cent reported having experienced at least one experience of genetic discrimination. To put this into perspective, the cognitive psychology or adverse drug reaction literature would define a common occurrence at around the 10 per cent mark, so by all accounts this occurrence of genetic discrimination of 40 per cent would be considered common.

When we looked at where the discrimination was being experienced and across what settings, the insurance setting specifically was the highest area where genetic discrimination was experienced, followed by the family and social domain and employment. Notably, there were few reports there.

The next slide shows a closer snapshot of the results in the insurance domain. Discrimination was most often reported to have occurred in reference to obtaining life and disability insurance and, to a lesser extent, by mortgage insurance.

There were areas in the survey where participants were allowed to write open comments. I just took a few examples of their quotes. For example:

I was so angry because I was told I was denied [life insurance] because of my gene.

This was a 28-year-old female from Alberta at the time who had had tested positive for the gene mutation.

On the next slide, you see a closer snapshot of the employment setting results. Here, genetic discrimination was reported infrequently, but when it was reported to have occurred, it was most often reported at work, at their current place of employment, as opposed to getting access to new employment. Here the example from an open response in the survey was as follows:

I disclosed my positive result to my employer. Was denied a promotion, in large part, because of the perceived future liability of the company.

This was at the time a 38-year-old male from Ontario who had tested positive for the mutation.

Again, all of these individuals were asymptomatic, neurologically tested to be confirmed as asymptomatic, and this was based on the disclosure of genetic test results.

We looked at the results in terms of how knowing a genetic test result was associated with the experiences of discrimination. What you find here is, in fact, genetic discrimination experiences were highest among those who were found to have the HD mutation. Then we looked at what the cause was for the discrimination. We had the ability to discriminate, if you will, here between experiences based on family history versus genetic test results. While family history was one of the major reasons for discrimination experiences as perceived and reported by this population, the genetic test results or both having genetic test results and the family history were very much a major component of their experiences.

Finally, we talk about experiences of discrimination being at this 40 per cent level across the country within this population that we sampled, but the fear of genetic discrimination was widespread: 86 per cent of the population that we sampled reported that they were worried about genetic discrimination, not only for themselves — and this comes to the heart of what genetics is about — but for their families. Of course, when you have a genetic disease, your family members are at risk as well, so therefore the risks of genetic discrimination impact your family too. They were afraid of genetic discrimination in the insurance setting, and here the employment setting is now working its way up the ranks as well.

We speak about these experiences as if they're these abstract occurrences, but they very much have impact on the psychological and behavioural well-being of these individuals. We were able to look at that more closely through this research. We found that genetic discrimination is actually associated with high levels of psychological distress, such that experiencing genetic discrimination in more situations is associated with increased levels of distress. Having the fear or concern that genetic discrimination might occur to you or your family members is also highly associated with high levels of distress.

What is notable here in the panel on the right about the fear of discrimination and the high level of distress is that in fact it was more concerning to be afraid for your family members than for yourself. This goes to the impact of genetic discrimination. It goes beyond just me, myself and my experience to what the family would experience as well and is at risk for experiencing. This also may indicate some of the reasons why we don't see a lot of reports of discrimination arising through potential legal recourse because coming forward with an experience of genetic discrimination also puts your family at risk and reveals a larger risk to the family. Here you are seeing that impact through the data indirectly.

Finally, I wanted to touch upon how individuals were impacted behaviourally by the potential for or experience of discrimination. They spoke about various strategies they were using to manage the genetic discrimination. For the concern of the discrimination, they used the term ``keeping low,'' that they were highly secretive about the fact that they were either at risk for Huntington's disease or tested positive for the mutation, not only with third parties like insurance or employers, but even with their own family members and even children in order, in their minds, to protect them from the chance or the likelihood they would experience genetic discrimination should they be aware of the fact that they're at risk and that there is Huntington's in the family, which of course has larger medical implications, as we can discuss.

They also spoke about not changing jobs or not seeking new employment arrangements just so that they could not be in a position to have to disclose new information in the course of applying for a new job or a new insurance application.

People spoke about pre-empting the possibility of genetic discrimination by purchasing life insurance, in this example, prior to a diagnosis coming to bear or prior to undergoing a genetic test, so those results don't necessarily need to be disclosed at the time of the application. They actually spoke quite emphatically about going to quite extreme lengths to make sure that their genetic test results remain off of their medical files and charts across clinics in Canada, wherever they're moving, and within their family's records so that there is no link to their genetic tests in medical charts should insurers have access to those medical files and discover that they have an increased genetic risk because of their test results.

With regard to experiences, people spoke emphatically about the fact that they had to minimize the experience since there was no recourse. They just had to back down, avoid the confrontation, or ignore and accept the discrimination experience. They spoke about trying to confront it in lieu of the vacuum of policy protection that they were aware of or availed themselves of. They spoke about challenging the person or institution, whistle-blowing, seeking legal advice or trying to refute the basis of the discrimination experience.

To provide a quick summary of what I've said today and what I've found in this research, the experiences of genetic discrimination are indeed common among the Huntington's population in Canada. They are frequent, most frequent in the life and disability insurance domains and among family and friends. The fear of genetic discrimination is widespread among individuals and for relatives, particularly within the insurance setting.

Both the experiences of discrimination and the concerns for being genetically discriminated against are associated with high levels of psychological distress. Patients, as I've just described, use various behavioural strategies to mitigate discrimination, which could be to their detriment, as I have said about the medical files. Having the genetic mutation is associated with higher levels of genetic discrimination.

Just some limitations to keep in mind: These were self-reported, unvalidated reports of discrimination. The sample could be considered self-selected because they were participating in genetic testing or research, and as we know, the fear of genetic discrimination causes individuals to avoid genetic testing and participating in genetic research. By all accounts, one might speculate that the prevalence I found in my study is actually an underestimate of the potential fear and experiences, because those who are particularly afraid are not necessarily coming forward for genetic testing or participating in research such as this so that they won't be labelled and potentially linked to this disease or genetic risk.

Of course, Huntington's disease might not be ``generalizable'' to complex disorders, such as cancers. However, my collaborators in the Australian study of genetic discrimination, which measured and used the exact same survey as I did, found that the level of discrimination reported within the Huntington's sample in their country was quite similar to the level of discrimination reported within the cancer community's sample in their study. One could speculate that we would find the same levels of discrimination within the cancer communities should we do that research, which is very much required.

In conclusion, here are some considerations about the bill you have in front of you. It represents an important contribution in addressing genetic fairness in Canada such that it would allay fears about going forward with testing and finding out whether one carries a genetic mutation, which could impact, as Dr. Cohn has suggested, treatment and prevention, and participating in research, which would have profound effects on the advancement of genetic science.

Penalties that are established within the bill, when enforced, can address the experiences of genetic discrimination.

Fundamentally, Bill S-201 could advance complementary legislation by provincial policymakers, which would protect against genetic discrimination provincially. That would make a very important fundamental statement on genetic fairness in Canada.

Thank you and I remain for your questions.

The Deputy Chair: Thank you for your presentation. I have a list of senators wanting to ask questions.

Senator Eaton: Dr. Cohn, you made a reference to personalized medicine. Gene therapy can also replace a person's mutated gene with a functional one. Is that correct? Will we start to do that more and more?

Dr. Cohn: Yes, we will indeed. When I talked about the individualized treatments available, I was specifically referring to the ability to now target specific mutations in patients for treatment purposes. A technology has surfaced within the last two years that has revolutionized the field. There are thousands of scientists around the world who are trying to work toward this now. That is exactly what I was talking about.

Senator Eaton: It's a very complicated field. So for an insurance company to predict what's going to happen to somebody now, with the advances in personalized medicine, will be more and more complicated. Would you not agree?

Dr. Cohn: Only in a beneficial way. It will be complex but in a beneficial way because, most of the time, if I make a genetic diagnosis, we're not talking about a predictive likelihood of disease. I would like to comment about that because the point was made earlier. I can't do anything, and most of the time that can lead to a life-limiting or life- threatening condition.

Senator Eaton: If you look at my DNA tests and there is a prediction of something, you can't do anything if it's just predictive?

Dr. Cohn: That's different. I'm talking about the diagnostic aspects. If I make a diagnosis of a current medical problem, very often, for the rare diseases we are talking about, there is no available treatment.

What's different about predictive testing is that you actually can already make certain lifestyle changes or management changes in your medical health care to prevent any catastrophes from happening. So the discussion I had with the insurance company when they came to us is that I actually think they will benefit from this because the more we know, the more we can do, at least about the things that put us at high risk. We can make certain changes to prevent them from happening. That's exactly right.

Senator Eaton: Dr. Bombard, you represent a hospital I love dearly, St. Michael's, one of Canada's great hospitals. As to your policy consideration that Bill S-201 could advance complementary legislation by provincial policymakers, are there any provinces in Canada that have legislation banning the disclosure of or questioning of a person's DNA?

Ms. Bombard: My understanding is that several private members' bills have been submitted, but at the moment there is no protection against genetic discrimination specifically in any province.

Senator Eaton: Could you let us know which provinces have private members' bills going forward? I think that a federal bill right now would only cover a very small number of people. Am I correct?

Ms. Bombard: That's my understanding, yes.

Senator Eaton: Thank you.

Senator Cowan: Is it your understanding that there is a private member's bill before the Ontario legislature? Are you aware of any others across the country?

Ms. Bombard: There was another one, either in B.C. or Alberta. There were several attempts in Ontario.

Senator Cowan: That's right.

Dr. Cohn, I was struck by your evidence today, as I was when we first met. As adults, we're deciding for ourselves whether we want to take tests. Some of us would want to know and some of us wouldn't. That's a legitimate decision that each of us would make. In your practice, you are dealing with families who are making decisions for children who can't make decisions for themselves. That seems to me to add a whole level of complexity and stress to what in other cases might be an individual decision.

Dr. Cohn: That is exactly right. I think the gravity of the decision is much more pronounced because I see families saying, ``I'd rather not go ahead with testing for my child because that could also have an impact on me. If it has an impact on me and I can't get life insurance, how am I going to make sure that somebody is going to take care of my child?'' The complexity and gravity of that decision is multi-layered and much bigger than it is for a single person.

Senator Cowan: From a public policy point of view, can you elaborate on the effects of these probative tests? The reliability is not the same for every genetic test that one takes. Obviously, Huntington's disease is at one end of the spectrum and other diseases are at the other end. In the type of work you do, what is the value to Canadian society in having more information about our genetic makeup? What does that do? What is your view of the impact if the discriminatory effects that we're talking about were removed and it became simply a question of wanting to know or not wanting to know? What effect would that have on society, in your view? It's a very broad question.

Dr. Cohn: I would like to answer this by also answering a comment that was made earlier: How many diseases do we actually know something about that have an impact?

The American College of Medical Genetics has put out a recommendation that if you are doing whole-genome sequencing, there are about 56 genetic conditions currently that are what we call medically actionable conditions that you have to report on. That's the rule in the United States. We have slightly different rules in each hospital in Canada.

There are 56 medical actionable conditions, but there should be 58 because two more were discovered within the last six months.

What's the value of this? I can do something about this in a way that my quality of life is better. In some cases when you're talking about genes that affect colon cancer or other cancer syndromes, it might affect your survival.

I'm coming back to what I said earlier. These medical actionable genetic conditions will increase exponentially over the next year or two or three. They will continue to increase because as we learn more, we identify more of them.

The number of genetic conditions for which you can't do anything will remain very few. I'm trying to make the argument with the insurance companies that in the long run they will save a lot of money because they will have fewer people dropping dead at the age of 40 because they had a heart condition they didn't know about; or they unexpectedly get colon cancer at the age of 50. You don't expect to get colon cancer and die at this age. The knowledge is not just to know but to have consequences in your health care actions.

Senator Cowan: I use Senator Andreychuk's example. Let's suppose that Senator Andreychuk and I carry a gene that might lead us to develop a certain condition. I decide I want to know. The gene is identified and I take the measures that you have spoken about. But when I apply for insurance, I pay more for my insurance premiums. Senator Andreychuk decides for personal reasons that she doesn't want to know. Therefore, because she doesn't take the test, she doesn't know she has the condition and she doesn't make the kind of preventive lifestyle changes that I have made. But she pays a lower premium. I don't see the public policy benefit of that. That doesn't seem to me to be reasonable.

Dr. Cohn: I can only say that I agree 100 per cent. I'm not sure what else to say.

Senator Cowan: Senator Eaton said that federal law would have limited impact or — I forget your term.

Senator Eaton: It would only affect a small number of people if the provinces don't follow suit.

Senator Cowan: Exactly. Would you not agree that what we're talking about here is with respect to insurance and this bill would protect all Canadians equally. We might find that provincial legislators want to provide complementary legislation, but this would apply equally across the country to all Canadians, which is the reason I chose to do it. The amendments to the Labour Code clearly are restricted only to those employees who are subject to the Canada Labour Code. Would you agree with that?

Ms. Bombard: Yes, thank you for the clarification.

Senator Andreychuk: Thanks, Senator Cowan, for using me as an example; but I'm the one who wants to know, as I'm very curious.

I find this fascinating, but what I find more fascinating about your research is how fast it is. You said 56 conditions but two years ago it wasn't 56. This is such a moving field that we really don't know where it's going. You're exploring from a medical position, but the more we know about ourselves, there are always consequences that may be positive or negative or unintended throughout our law. So we're looking at this bill that is only part of the whole issue.

I'm still a little confused. Insurance companies are concerned that if they give a policy to somebody who has a disease or condition that you cannot assist and improve, then they are setting themselves up for a certain scenario. If you have that information, they want to know. They're not asking you to get information, but if it exists, they want to know because you're coming to them without disclosure if you don't let them know. That's on conditions that you absolutely know are going to lead to a negative result.

However, they're all these other issues that you're talking about that you can diagnosis. I don't think the insurance companies are looking at those now. Do you know if that's correct, Dr. Cohn, from your conversations with them?

Dr. Cohn: No, the conversations I've had with the insurance companies are different. They're looking at this globally. They make no distinction. You're right in saying that for some of these conditions, you cannot do anything, and the insurance companies are obviously concerned.

I think the bill addresses this eloquently by putting a ceiling on an insured number to avoid or prevent people who know they have a terrible disease and want to take out a $1 million life insurance policy because they would have to disclose all the information. That's my personal opinion. I think that's a very good part of this bill.

When I talk to insurance companies, they don't differentiate between the two. They talk about all genetic information, not just the ones that have a clearly negative outcome.

Senator Andreychuk: In those conversations, are they saying that they don't care about any genetic predispositions that you say you can diagnostically assist in improving?

Dr. Cohn: It never gets that detailed. It stops at the level of available genetic information because that's what you're born with. The multifactorial conditions develop over time. Genetics play a role in this but it's not something you know. Whether I take your DNA today or at the time you were born, it is always the same. They're talking about the fact that this is in your DNA code, and whatever is in your DNA code is what we need to know. I think that's where the problem is.

Senator Andreychuk: When you had these conversations, was it on behalf of an association?

Dr. Cohn: They actually asked to speak at Grand Rounds at Sick Kids because they knew that Senator Cowan was bringing this bill forward and they wanted to engage in a conversation, which we all very much welcomed. It was a very interesting conversation, for sure. I think it will only work and we'll find a solution if we talk to each other and find a compromise that will be good for all of us.

Senator Andreychuk: Will this turn into an ongoing dialogue?

Dr. Cohn: No. At the moment, I have been waiting for phone calls. People told me they would come and speak to us further, and that hasn't happened.

Senator Andreychuk: I understood that if that precondition was going to be an actual condition that you will get, not perhaps, and it's predictive that you will get it, then that's what the insurance companies are concerned about, not the fact that you might have all these other conditions that might have some negative concepts. The other thing is that if you have that gene, you may or may not get it, and science has yet to tell us whether you will actually have it. With Huntington's, we know you'll get it if you have the gene, and there were a few others. I've been hearing from six to twelve or thirteen of those. For the rest, you may have a gene and you might get it, and you might have a predisposition for getting it more than the average person, but there is not that predictive nature to it as yet. There may be, and it may be a growing list, but science can't tell us yet. You're making no distinction.

Dr. Cohn: No, that's not true. I didn't say I don't make a distinction. First of all, the insurance companies don't make the distinction. They are talking about global genetic information.

What's important is there is a very small number of conditions that we know about that can happen in the future and really have a negative outcome, meaning these are life-limiting disorders for sure. There are very few of these, but there are some.

To correct the numbers, we have now 56 genetic conditions where we can actually do something about them. Are we going to 100 per cent avoid lethality in these conditions? No. But the chances of avoiding lethality are much higher with the knowledge than without the knowledge, because without the knowledge it's going to happen for sure.

There is a third group of conditions, which is why we are doing the research. What does it mean if I have a 15 per cent increased risk of Alzheimer's disease? You are absolutely right that we don't know that yet. We are learning this as we go, and time will tell, but there is a lot of information we do know already, and obviously it increases exponentially.

Senator Andreychuk: I'm concerned about discrimination generally, Dr. Bombard. You have touched on it, and I appreciate that very much. Life insurance isn't something that every Canadian has. Sometimes they can't afford the premiums. Sometimes it might be in your job package of benefits, but often it's not. Those that can afford insurance are one category, but there is a whole host of other people in Canada that don't have insurance or can't afford insurance.

Was your study on insurance, or was it on discrimination in the broader sense? I'm concerned about if I get a test and if someone gets my records, as an employer or in an association or anywhere, and it's used against me. I'm concerned about that as much as I am insurance companies. This is where I think this whole new DNA field will lead us.

Were you concentrating on life insurance, or was it really a broad analysis of how discrimination might arise?

Ms. Bombard: Thank you for seeking clarification. I'm glad to have the opportunity to do that.

The study asked specifically about discrimination and provided a list of 23 specific settings for the respondents of the survey across the country to mark off in which setting they experienced discrimination. I grouped them in six settings: insurance, employment, et cetera. Under insurance, there are specific categories for them to indicate: life insurance, long-term disability insurance, critical illness insurance and mortgage insurance. That's where I focused some of my remarks to take a closer look in those settings.

The questions asked specific individuals to consider whether they experienced discrimination in these settings. We provided a definition of what discrimination means so that we knew we had validity in the results to know that every respondent was interpreting that question and responding in that way to suggest to us they understood what discrimination means. Part of the survey looked at experiences of discrimination, and the other part that I presented was regarding concerns for discrimination in the same 23 specific settings that were then grouped in larger domains.

I would like to also have the opportunity to address your opening remarks. Life insurance is not a social good. It's a business contract for those who can afford it, and one could argue that it plays a desirable role. One could also argue that it's becoming an increasingly necessary good, not only a business contract but a need in order to equally participate in our society and get things like a mortgage or open up a small business, or if you're a medical practitioner or allied health professional, to provide some disability or critical illness protection or even protect the practice. In order to participate equally in our society, life insurance, which used to be a commercial good, is starting to translate into something that is required in order to participate equally in our society.

Yes, someone's current financial status might be one issue that could prevent them from getting a large policy, but even access to a minimal policy by someone who is at risk for a genetic condition and might have the financial means at this point but is potentially prohibited from even accessing that good that would allow them to participate equally in our society.

Senator Andreychuk: Thank you.

The Deputy Chair: We're almost out of time, but I have two senators still wanting to ask questions. Please be brief with your questions and answers.

Senator Eggleton: It sounds as if this is really a good news story, getting a genetic test. Some people would be reluctant to get one, but you're saying that for the vast majority, you can do something about it if something is found that needs attention, either medical therapy or lifestyle changes that could have positive effects in terms of length of life or reduced health care costs. It sounds like for the vast majority it's a good news story. The difficulty is that people are reluctant because of this discrimination issue.

In this discrimination issue, Dr. Cohn, you said that 33 per cent, a third of the people you've been dealing with, are declining because of the fear of discrimination, and we focus on insurance but there is also employment. There are other factors, as you pointed out, Dr. Bombard. This is very valuable, by the way. Thank you very much for this.

Is 33 per cent roughly the number you're finding, Dr. Bombard, or do other studies show figures different than that, people that are afraid and decline because of it?

Ms. Bombard: This isn't the work that I have done. From literature, it would be very consistent and it shows higher levels of declining participation in research and in genetic testing because of fears of discrimination. I can get the numbers for you, but I don't want to quote out of turn.

Senator Eggleton: I would be interested in more of that information about the fear factor.

In your chart, you show the different forms of discrimination. We talk a lot about insurance. It is the biggest one. What about the employment one? Is that growing? What kinds of stories are you hearing about that? Are some employers asking for genetic testing or asking people whether they had one and if they had one that they want to have it submitted? Are we getting more of that?

Ms. Bombard: Within the employment setting, the survey indicates that the discrimination experiences are happening at the place of employment because the individual has decided that they have a perceived fiduciary responsibility to report this information.

I remember interviewing a CEO of a company who said, ``I'm in a very responsible post. I feel that, in X amount of years, knowing that this is coming down the line, I have a fiduciary responsibility to eventually disclose this.'' That's a minority of the cases.

In other cases, the information is discovered. It is not necessarily clear how, but that is leading individuals to, as some of the details here indicate, impose early retirement, change folks' responsibilities at work, deny promotion requests and actually increase job surveillance.

That is the nature of the experiences that are happening within that setting and that have been reported, both in the interview work and within the survey.

Senator Eggleton: In what age range should people be taking or be encouraged to take genetic testing? At Sick Kids, you are dealing with children. Is there an age range that should be looked at?

Dr. Cohn: There is no age range that is recommended. It depends entirely on the clinical symptoms, if you have any.

There are obviously information seekers out there — you talk about 23andMe coming to Canada now — people like you and I, who are healthy and go out and want to get some genetic information. I had my own genome sequenced because I wanted to know.

I want to address the employment issue because I had to decide for three stories. I want to add another situation where I had a brother, an adult brother of a child with a genetic disorder, which we briefly diagnosed, and he told his mother, ``Do not tell me what you have until I have my job because I was asked questions about my brother. It was in a small town. They knew about it, and they asked me specific questions about genetic conditions.'' He didn't want to get tested and didn't even want to hear about it so that he wasn't in a situation where he would say something.

Senator Eggleton: Thank you to both of you. You have been a tremendous help.

Dr. Cohn: Thank you for having us.

Senator Nancy Ruth: I want to talk about risk and cost. Dr. Cohn, you clearly said that if they don't get tested, the cost is borne by the taxpayer through the health system. If they do get tested and insurance companies have access to this information, should the costs not be borne by the shareholders of the insurance company? Who is going to pay? Someone is going to pay for the risk. Do you have any comments about that?

Dr. Cohn: I want to clarify that this was a comment about the one patient story. I think we need to be very careful not to globalize this. That was never my intention. There are certain conditions, like this one I was talking about, in which, if I don't know the exact genetic diagnosis, it will lead me a certain path. In this case, it was a path that led to more frequent testing, which may or may not be necessary. I don't know the answer to that because I don't know what the solution of this case is. That potentially could also be a burden on the health care costs.

For fairness reasons, I need to make clear that in general, when you talk about the whole genome sequencing, there is a certain perception, everywhere in the world, that the more you know, the more you are going to go after things and that it is actually going to be a burden on the health care system. One aspect of our research study is to prove the exact opposite.

I think it will be the exact opposite, but I want to make sure that I don't come across here wrong. At the moment, these are individual cases, and I don't want to globalize this.

Senator Nancy Ruth: Someone is going to pay, though. The question is where.

Dr. Cohn: Not necessarily. That's not true. Let me give you an example.

If I have a patient who is diagnosed with colon cancer at the age of 50 because of a genetic condition but he didn't know about it, he will be diagnosed at a stage that is going to lead to a lot of surgery, chemotherapy, maybe radiation and lots of costs for the medical health system.

If I know at the age of 20 that this is going to happen, I will avoid the cancer altogether and all of the costs associated with the treatment of the cancer. That's why I'm telling you that our research will prove that the more you know will actually lower the burden on the health care costs. So I would like to respectfully disagree — not necessarily.

Senator Nancy Ruth: I'm talking about those who don't take the tests.

Dr. Cohn: What do you mean?

Senator Nancy Ruth: To use your colon cancer example, if someone does not take the test and doesn't know that and then has all of these health procedures, then the taxpayer is responsible for the costs.

Dr. Cohn: That's correct.

Senator Nancy Ruth: Somebody is paying somewhere. Is it the shareholder of the insurance company if they were blocked from knowing the knowledge, or is it the general tax pool?

Dr. Cohn: I apologize. That's absolutely correct.

Senator Nancy Ruth: It's okay. It is a moral dilemma.

The Deputy Chair: Thank you, Dr. Cohn and Dr. Bombard, for your compelling testimony. That brings us to the end of this morning's human rights committee. I thank you, senators.

(The committee adjourned.)