Genetic Testing - Health Care Issues:
An Interview with Dr. Neil Holzman

Interviewer: What's the major goal of your work (in regard to genetic testing)? What are you trying to accomplish?

Dr. Holzman: We're trying to determine how people will respond to some of the new technologies in genetics. And by people I mean physicians and health care providers, too - whether they're ready to cope with this, to present this to patients, and how patients or how the public in general will respond to being offered genetic tests. That's the major technology we're confronted with now. The questions raise many interesting issues, and the answers are fascinating to me, and I think they're also important to inform public policy - who should be providing genetic tests, what does the public need to know, what do they know right now about genetic testing.

Interviewer: What's the fundamental issue for you when you look at genetic testing? How would you phrase it in terms of the forces that are at work, and do you think of it in that way?

Dr. Holzman: The forces at work are the tremendous advances that have taken place in science and their various applications. We have a genome project that has as its goal to identify all of the 50 or 100 thousand human genes within the next 15 years or so. When we have that information, it will be relatively easy to develop tests for a number of diseases and that, I think, is driving my concern, my interests about what people will do with that.

Interviewer: I've read stories about the Constitutional issues involved -

Dr. Holzman: There are. Let's talk a little bit about genetic tests, what they'll do, and what they won't do. We can divide diseases in which genes play a role into two categories: One is the clear-cut genetic diseases - what we call single gene diseases - where a problem in a single mutation in a single gene will cause disease, and do it invariably if that mutation is present, either inherited from one parent in some types of diseases, or inherited from both parents in other types of diseases. But by virtue of where we stand with the technology now, we have the opportunity to develop tests well in advance of having a therapy treatment for those diseases. So we have a gap, where we are able to predict disease, and that might be a disease that will develop in the unborn children of the people being tested, and we can't do anything about treatment. Now, what do you do in a situation like that? Why should someone want to be tested?

Well, they may want to be tested to know and to prepare to alter their life plans; some of them may know they're at risk and would like to know with certainty whether they are going to develop a disease or not develop a disease. In the case of predicting disease in one's offspring, in the absence of treatment, one can either decide to go ahead with the pregnancy - and this will be influenced by the type of disease it is - or one can decide to terminate the pregnancy, to have an abortion. Now there are concerns about pressures compelling people to have tests and to take certain actions.

Interviewer: Could you be more specific about who would be exerting that pressure?

Dr. Holzman: We have tests that can predict the occurrence of disease, and there is nothing specific that can be done to treat, to reduce the disability of disease. Well, people may or may not be interested in those tests, but there are other parties that may be interested. For instance, insurance companies and employers - for the following reason that if a person is going to develop a genetic disease, or a disease to which genes contribute, and where that contribution can be detected by a test, it's likely in the absence of a definitive treatment that when those people get sick, they're going to need a lot of supportive care that may go on for years and years and that's expensive. And an insurance company does not want to pay for those benefits. And if an employer who is paying health benefits for workers has a way of finding out in advance of hiring whether or not a worker is going to develop a disease, that employer is going to be less likely to want to hire that worker since the employer is paying health care benefits. So this is an area where tremendous discrimination based on one's genes is possible, both in employment and directly in getting health care insurance.

Interviewer: Can you blame an insurance company? Don't they want information about risk?

Dr. Holzman: That's a very good question, because you're right, the principal on which private insurance is based in this country is called by some insurance underwriters "equal premiums, equal payments for equal risks." And consequently, when you have someone at high risk you wouldn't expect that person to pay in as little as somebody who is at lower risk. Now, what happened classically, as private insurance developed, was the insurance underwriter had no way of identifying people who were at higher risk than other people, so you would put them all in one risk pool and say we don't know whether this person is going to get a disease at the age of 30 or at the age of 80. We'll throw them all into one pool, and charge them the same premium, and the amount of the premium was determined actuarially by what the predicted life span would be for all the people in the pool.

Now what has happened over the last 20 or 30 years, not only in genetics but as a result of the collection of more detailed actuarial information about occupation, is that you can't throw so many people into that common risk pool. We now know who is at risk; there are some occupations that are more dangerous than others, are predisposed to disease or early death, and it's pretty evident that there are genetic diseases which will shorten the life span and lead to high costs of care, since there is no treatment.

So an insurance company cannot afford to give everybody the same rate and continue to make a profit. That's fine for the insurance company, but what it means is, as you're identifying many more people because their risks are higher than others, you're excluding more people from health insurance, and that's the crisis that we've got ourselves in today along with the mounting costs that make the premium - even for the people who are at low risk - very high. And because it's no longer possible to put everyone, or a large portion of the population, into one risk pool, the whole concept on which private insurance is based is out the window.

Interviewer: Doesn't it impact a bit on our old notion in society of what's normal? What is average? And is that something we want to do?

Dr. Holzman: Well, certainly what the Genome Project, and what studies and genetics have already taught us, is that there is an enormous range of variation from one person to another. The reason none of us look alike is to a large part, not completely, but to a large part, based on genetic differences that we have. And, while we can pretty much talk about normality, or rather, in terms of health that is, somebody who is not sick, the variations will play a greater role in the immediate future in terms of how we characterize illness.

Let's take people who have heart disease. The time that one person will develop coronary artery disease may be much earlier than with another person. The severity of that disease or certain other diseases may vary. Somebody may just have some pain and still live to 70 or 80, while others may die of a heart attack at the age of 40. So what I'm getting at is, even as we discover genetic differences, not only is there normal variation, but some of these genetic differences also influence the severity of genetic disease.

One of the problems about genetic tests, even for the very clear, sharp genetic diseases like cystic fibrosis, is that using a genetic test to predict whether or not a disease will occur is often not going to predict the severity of that disease. So that confronted with a choice, for instance, of terminating a pregnancy, a couple cannot know in advance how severely affected their child is going to be, and that makes it very difficult to explain genetics tests to people, and to make sure they understand that this enormous variation, not only between normals but even when one confronts illness, makes some of these choices pretty difficult.

Interviewer: Who should be making policy about the uses of genetic information?

Dr. Holzman: Well, I operate on a very simple fundamental principle, and that is one of autonomy, that the person who is being offered the test (and it should always be an offering) is the one to make the decision as to whether he or she wants the test. And that decision has to be a fully informed decision, so that the person offering the test either directly or through videotape, or brochures, or group counseling, group sessions, has to be at great pains to deliver the information that people need and want in order to make an informed autonomous decision.

Interviewer: But there are insurance companies that are basically saying, if you haven't taken the test then we're going to drop you anyway because then you're too much of an unknown risk. How do you protect against that?

Dr. Holzman: Well, we've talked already of the need private insurers or employers have for genetic information, and as far as I'm concerned we need a new type of health insurance to deal with that, because even if we pass laws saying that they shall not use genetic information, there's a real problem as to how well and how inexpensively they'll be able to provide insurance under those circumstances.

It will be difficult to turn the clock back. Insurance companies will lobby very hard for tests that identify large numbers of people and that influence what an insurance company can charge and what an insurance company's profit is. Now, here is one of the saving factors: we may have exaggerated the opportunities that understanding our genes will provide, and that genetic disease is fairly complex and particularly if you're looking for the more common diseases that affect a lot of people - and therefore will be of greater interest to the insurance companies - the tests may not be very highly predictive.

We're talking here about diseases for which there are genetic predispositions. So let's say you have a test and only 20% of the people who have a positive test result are going to go on and develop that disease. If an insurance company should use that test, it means that it's going to deny insurance to five people out of six who are never going to develop the disease. The insurance company is losing money there, and it will have to weigh very carefully whether the cost of providing insurance to that sixth person is going to be greater than denying it to the other five.

So it's not clear that we're going to have a large number of tests that are going to be of critical importance to insurers, but it's clear that the insurance industry has been interested in genetic testing, and has generally opposed the notion that they should not be allowed to test, or not have access to information. You have to remember that in addition to testing, insurance companies right now and for many years have used family history, genetic history, to make these decisions, and they have also very clearly excluded people who have already had the clinical manifestations of genetic diseases, things like sickle cell or Huntington's disease, and to turn the clock back will be extraordinarily difficult to do.

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