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FRIDAY, JUNE 23, 2006

Session 6: Newborn Screening for Genetic Disorders

Presentation and discussion of staff working paper by Richard Roblin, Ph.D., Council Scientific Director

CHAIRMAN PELLEGRINO:  Thank you for reassembling.  My apologies.  Our next session will be devoted to discussion around a staff paper prepared by Richard Roblin, Dr. Daniel Davis' predecessor as Executive Director of the President's Council.  The discussion will be opened by Dr. Leon Kass.  Leon, you're on.

DR. KASS:  Thank you.  First of all, I want to say that I think that Dick has done an admirable job of laying out some of the questions that should come before this Council as a prelude to thinking about what I think is the question we ought to be discussing in this session, namely is there work for the Council to do on this subject.  That's where he gets us at the end and my comments are with a couple of preliminaries. I'm going to put my foot in the water on that last question. 

I do think that one should not  underestimate the seriousness and importance of this move to increase mandatory screening.  These 29 metabolites are just the tip of the iceberg and when genomic knowledge is added and the DNA screening can be done, we will see a massive increase in screening and it, therefore, behooves somebody, a body like this to at least consider whether there are ethical questions beyond saying proceed with caution and to see whether there is some kind of positive intellectual contribution that one could make just sorting out those questions.  So I don't think there's any question about the importance of this subject, even if at the moment we're talking about identifying 8,000 babies — screening 4 million children to identify 8,000 patients with disease.  This is a big subject and coming fast.

Second, without in any way casting any doubts on the motives, intentions, goodwill of the people who are bringing us these questions, there is a certain kind of logic which goes something like this and this is a caricature but have test, can screen, will find, may treat, must screen.  And for certain kinds of conditions where there really is clear treatment, where the ratio of false positives to true positives is small, much less worrisome, but if you look at the table that Dick has provided for us, we are talking really about false positive to true positive ratio in the neighborhood of 15 to one over all of these diseases and I think it's very important to raise the question that he does about the absence of information about what the effect of this false positive diagnosis is and whether or not it's enough to say, "You're baby is in the clear" when you've got some empirical studies that suggest that there are deleterious consequences to children and their families going long beyond and the need to study that before speaking with confidence that this is really a marginal problem, I think is evident.

By the way, it's going to be hard to get that data thanks to HIPAA because we're not going to be able easily to do the findings, to do the studies on these families that have been given false positive diagnosis at first and then find out what those effects were.  So this is an area in which research will be needed.  It's going to be hard to do. 

Should the Council take this up and what could we contribute?  There are people who like clean ethical problems.  Is the embryo one of us or not, that's hard to answer but it's at least formulable.  Here when Dick poses the question about how do I analyze the risks and benefits which are incommensurable, the goods and the harms are sort of incommensurable where you're dealing with statistical matters at best.  I think that this will not appeal to the people who like neat and clean but it seems to me that increasingly in sort of risk management medicine, more and more of our ethical problems are going to be formulated in these terms.  And while I'm not sure I know how to proceed with that analysis and I know it's going to be a mess, it does seem to me that it would be given the importance of screening, given the difficulties in fact of doing proper sort of assessment of goods and harms, I think it would be worth a try to see if we can't make some progress, maybe ahead of the curve, to begin to lay down certain kinds of notions of how to begin to think about this before one rushes ahead, especially, and this is — well, let me just stop with that.  I think that's really enough to open — I hope to open a conversation.

CHAIRMAN PELLEGRINO:  Thank you very much, Leon.  Dr. Roblin?

DR. ROBLIN:  I'm much in agreement, I think, with Leon's analysis of where this issue is, vis-a-vis, the Council.  Certainly if you read the working paper and if you followed the discussions in the Council meetings over the last several months, this is now I think the third or fourth meeting where the Council has had some presentations and some discussion on newborn screening programs.  And so I think it is timely to move to a discussion of whether the Council sees something here as Leon was pointing out, that is worth further time and attention, and if so, some guidance to the staff sort of in what directions those things might lie.


PROFESSOR McHUGH:  I think it's imperative that we go on and do this and follow up with what Dick has already done.  And again, in my preamble to my questions to Dr. Alexander, you can't — unless you were there, I suppose, realize what it was like to try to stimulate an interest in young psychiatrists in mental retarded patients and the like.  They really thought it was a waste of time, futile, all that kind of stuff, and yes, it's true that PKU has huge false positives, and yes, it's all of these things but the opening, the dynamic opening of interest in mental retardation that is now so common that when somebody says a psychiatrist is interested in it, they wonder whether it really belongs in psychiatry, but that's a problem for psychiatry.

And one of the things psychiatrists realize is that you know, if you look at medicine and the like, we don't have anything like the achievements of germ theory, even anesthesiology or the experimental method, almost, so this comes as a tremendous opening in the arena of neuro-biology.  I do appreciate exactly what is being said in both of these papers about the dangers of false positives and the issues of what false positives present to the world but by the way, if we were going to go out and attack conditions or tests that are now uniformly used in America, that turn out to have huge false positives.  The one test that we should be attacking vigorously as an ethical problem is the triple test for Down's syndrome given to mothers during early pregnancy which has a false positive rate that's so high that — and then when it's recognized to be false, becloud not only that pregnancy but every other pregnancy that a young woman goes through.  So when it comes to the false positives there, they are just as vicious and perhaps, more vicious than these issues which ultimately can be resolved with work-ups and identify the issues of what screening is about.  So I would very much like to see and the Council engage in a discussion about the matters of policy, the matters of ethics, the matters of issues of life that turn up and are trying to understand and develop screenings for the neuro-psychiatric disorders of which mental retardation is but one and given that we've already devoted a good bit of our attention to the study of Alzheimers disease in the past, I would have thought given that biology is biology, that this would be an appropriate thing for us to discuss and talk about its meanings even as it continues to be a developing arena.

CHAIRMAN PELLEGRINO:  Thank you.  Dr. Meilaender?

PROFESSOR MEILAENDER:  This won't really be a clarifying remark.  It's just to add a puzzle but I don't think Leon mentioned this, though despite the Chairman's insistence, I was a minute late getting in here, so maybe I missed something.  But the question that — I don't know what I think about it and I would be happy to hear what anybody said with respect to it, is whether uniformity is really that desirable or not here with respect to the newborn screening tests. 

I mean, I understand the difficulty one might have in the scenario Dr. Alexander painted for us of saying to parents, "If you child had been born in the adjoining state this would have — you know, we would have caught this very rare disease."  On the other hand, they are very rare.  Uniformity multiplies mistakes, if mistakes are — wrong directions are taken.  Non-uniformity allows for sort of experimentally different approaches to doing things and so forth. 

Is uniformity really desirable or not here?  I honestly, I don't — that's what I said, this is not a clarifying remark.  I don't know what I think.  I'd be glad to be persuaded one way or the other by anything anybody else had to say but I think that's also a part of the issue that would be worth pondering a bit.

CHAIRMAN PELLEGRINO:  Thank you.  Dick, any response?

Dr. Roblin: This was certainly raised in the working paper and I'm probably as uncertain in my own mind as Dr. Meilaender is, about what the right answer.  I mean, certainly you can note a number of things and one is the rare but tragic stories of people who learn that their affected child might have been helped if they had lived in another state where they do screen for this rare condition that the child has.

I can understand how devastating that would be to the parents on a number of levels.  However, we're — a certain structural feature of the screening system is the reliance on each individual state to make its own judgment, using the inputs that Dr. Alexander sketched as to what particular panel of tests they will mandate.  It's done somewhat differently in different states.  The paper makes reference to the program in New England.  There's a regional cooperative program where they mandate testing for a certain number of conditions and the subsequent, I think 19 conditions or so are made part of a research study approach. 

Parents are informed that this is available.  They have an opportunity to take advantages of those tests and have those tests done if they wish.  I think in those circumstances where the diseases are very rare and much is unknown about the efficacy of treatment, the research approach has much to recommend it.  I'm much more comfortable, I guess with a framework where parents are frankly told in a discussion what the level of understanding of their particular infant's condition is and what really is available at the moment in terms of treatment.

CHAIRMAN PELLEGRINO:  Thank you.  Professor Gómez-Lobo?

DR. GÓMEZ-LOBO:  I think Dick's paper is just wonderful.  I think it's very clear and it sorts out the main ethical issues and Leon being one of those people who like the black and white and clear-cut ethical dilemmas.  I just wanted to suggest a friendly amendment to Dick's paper which, I think, may be of use to us and it's this; that on page 7, the argument for the present practice is described as being conceived in a utilitarian framework.  Now, I would argue that it's also an argument perfectly acceptable for a non-utilitarian and the sense that it's not so much a matter of balancing goods but rather of saying, well, here there is a common good to be protected, to be pursued and nothing untoward is being done to pursue that.  And I suspect this is similar to the bioethical argument for vaccination, where you know, some families, some children, may have to suffer some negative effects, but the public health good is so clear that, I mean, it — I just can't see an ethical argument in that regard. 

So I would say that if, indeed, the screening practice is so important for all of these reasons that we were given, I think I, at least, would have no ethical qualms about it, even though we have problems such as false positives, et cetera.


DR. KASS:  May I just a brief comment to you, Alfonso, I've puzzled in reading the discussion of this under the heading of public health.  That this is an instance of preventive medicine is clear, early diagnosis, intervention, no disease.  But — and I can also understand why if the state winds up paying the costs of the care of the people who have this disease untreated, it is a public problem.  But unlike an epidemic of smallpox, these things are not public health menaces in that sense. 

It's very hard, it seems to me, to make a common good argument unless you want to say by common good, the health of every citizen is somehow a piece of the common good.  But I would, I think, myself be more inclined to a more narrow view of those things which are genuinely public and I'm sort of puzzled by the treatment of this under the general heading of public health even though the health of each of us contributes to the health of the whole.  It's a different paradigm and maybe the field is moved in that direction but I find it puzzling.

CHAIRMAN PELLEGRINO:  Go ahead, yes, please.

DR. GÓMEZ-LOBO:  Yeah, I think I stand corrected on the apparent equation of public health and common good, but I think an argument can be made to the effect that although this may not be a public health issue in the way an epidemic is, if we conceive of the public good not just as the aggregate of pleasure experienced by the majority but really as providing the conditions for every single member of the community to flourish as best he or she can.  I would say there is an issue of public good. 

It's just like the expropriation of the house to build road, I mean, there is a sense in which there is a protection of the common good of our fellow citizens, in that case.  It's just under that rubric that I would put it in those terms.

PROFESSOR McHUGH:  Can I jump in on that issue and just —


PROFESSOR McHUGH:  — make it more clear on what Leon feels about issues of public health, since I belong to both the School of Medicine and the School of Public Health and across the street, back and forth, and describe what I'm doing when I do that. When I'm in the School of Medicine, for the most part, what I'm talking about the conditions in individuals and when I go across the street, I'm talking about conditions in the population. 

That's the only difference, that you're looking at the population and how the population is affected by anything, whether those things be accidents, whether those things be genes, whether those things be infectious diseases and the like on nutritional issues.  It seems to me that what we're trying to do here is to try to prevent this certain number of children, certain number of people from having to be treated as individuals by being recognized early on by policies that are public policies that prevent and organize for them programs that keep them healthy.

So I got lost when you said that you didn't think that was public health but maybe I've got the wrong idea.  Tell me, Leon.


DR. KASS:  Well, the point is well taken and if each of us is — each of us is part of the public.  Our health is, in that sense, a matter of the public health, but if you want to take this subject up under the question of the health of the public as a whole, then you get into considerations of well, how big a public health problem is this compared to other sorts of things, and then you have questions of resource allocation and we heard in the last session that we're talking close to a billion dollars just for the arrays, for the detection of 4,000, 8,000 cases.    I don't want to trivialize the human suffering that's here, but if we're going to put this in terms of public health then you get into questions which Dick didn't raise here, could have about questions of resource allocation, especially with respect to treatment, efficacy, for loss of these things, and we might want to take that up, but —

PROFESSOR McHUGH:  Well, I think we're talking about the public health for mental retardation which is a big problem.  Mental retardation is a big problem.  It's not a trivial problem and if we're able to find more cases earlier that are treatable, it will be a reduced problem.  So hence, mental retardation is a population problem.

After all, it's a bel-shaped curve even with the look at it and so 2.3 percent of people are two standard deviations below the mean, hence, they're mentally retarded.  And some of them have these conditions and some of them don't.  We need to know the differences amongst those things.


PROFESSOR LAWLER: In terms of the alternatives Dick has laid out for us, I would want to investigate this matter of newborn screening as part of the broader concerns about the acquisition and uses of genetic information, that is to link it with prenatal uses of genetic screening as Ben said and as Bill said and as Paul said because one irony among many is newborn screening provides us with the opportunity of dealing with issues concerning — there's a more politically correct term than mental retardation — but mental retardation, more effectively than ever before, but it's easy to see how the prenatal screening could eliminate these people before they were dealt with as newborns all together, they become a kind of negative eugenics and so I would like to treat the big picture in terms of acquisition uses of genetic information.

I think this newborn thing, this newborn thing has problems that Leon outlined but the prenatal screening has monstrous possibilities if not properly regulated. 

CHAIRMAN PELLEGRINO:  Dr. Hurlbut?  Dr. Rowley?

DR. ROWLEY:  Well, I have several comments.  One, and I specifically stopped to ask Dr. Alexander about this, he thinks with the movement toward the DNA analysis that the problem of false positives is going to disappear.  And so a lot of what Dick had in his paper are comments regarding Norman Fost's analysis of early PKU screening which even Dr. Alexander says with the metabolic tests have gone from 95 percent false positives to I suppose it's 90 percent false positives, which is still a lot and he thinks with DNA screening that that's going to disappear. 

So I think that if — and this is a big if, if either chips or the microbeads turns out to be the technology used in the future, this is going to be an issue that will disappear and so for that reason, I think that the Council would be well-advised as has been brought up in the issue of newborn screening to proceed with caution.  So my vote would be more to watch this field and wait a bit before the Council weighs in.

Now, Paul McHugh, in his support of the Council's doing this also brought up other issues, not related to newborn screening, such as Alzheimers disease and if one — I don't know how it would be framed but if one wanted to consider larger issues of which newborn screening is one, you know, I would want to consider how that's assessed and analyzed and incorporated into a larger concern, but I think the people involved in newborn screening are well-aware of the hazards and the problems that have been created by the ability to screen for some of these very rare, fortunately very rare metabolic disorders and I think we should just watch what's going to happen in the future and hope that it will reduce some of the problems that have concerned us here.

CHAIRMAN PELLEGRINO:  Dick, would you kindly respond?

DR. ROBLIN:  I think DNA chip testing is a powerful technology and it's likely to be applied in this area when it's developed.  I guess I don't entirely agree with what Dr. Rowley said in the sense that I still don't think that once you can identify all the mutations, for example, that surround a particular condition that you can necessarily with 100 percent accuracy decide what the phenotype of any given individual is going to be.

I know there was some discussion back and forth about that earlier and I guess I have a particular paper in mind that dealt with a genetic disease where screening was newly implemented and so a number of newborns were picked up by that screen and that led to an examination of some of their siblings.  It turned out that in this particular case, some — several of the siblings had the same gene mutation that the affected newborns had but they're phenotypically normal.  And so even the able to screen using DNA is not always going to enable us to predict 100 percent who's going to be subject to disease.


DR. ROWLEY:  Well, I certainly agree with that because there isn't a one-to-one correlation genotype to phenotype.  But it's not going to be 90 percent false positives.  And so I think — I stand by my statement that with DNA analysis, the number of false positives is going to be reduced.  I agree with you, it's not going to be reduced to zero.

CHAIRMAN PELLEGRINO:  Anyone?  Dr. Schneider.

PROFESSOR SCHNEIDER: Well, if nobody else wants to say anything, I would like to respond to what Professor Meilaender said.  I think that when I encountered this, I was a little taken aback at the idea of the inequity because states were doing different things because I'm a lawyer and read the constitution and understood the way that we organized our country was to allow states to make these kinds of decisions and exactly for the kinds of reasons Professor Meilaender was suggesting.  That as Brandeis put it, the states are laboratories of democracy and the states are also different and it's open to states to conclude that their public health dollars are better spent, they will get more benefit from their public dollars doing things other than genetic testing.

So the idea that we are obliged to have everybody in the United States treated medically the same way seems to me not the usual understanding of the way we've organized our government and it also seems to me to be looking at the problem of genetic screening in isolation from other kinds of problems.  It is true that it's painful to say "If you had been giving birth in another state, this problem would have been caught."  But presumably, the state that didn't have that kind of genetic testing may be able to say to other people, "Because you live in this state, we are catching other problems that people in other states are not catching".


PROFESSOR SCHAUB:  Yeah, I don't know that my comment is necessary now.  I mean, my only contribution to the discussion has already been brought forward by Gil and by Carl, this question of federalism versus uniformity and centralization.  I don't know whether we should take this up or not, but if we do, I really think we should examine that implication of Dr. Alexander's that federalism is somehow unethical.  And you know, the point that you just made, I mean, it would be awful to tell a mother that yeah, "If you lived in a neighboring state that had more extensive screening, the child's disease would have been caught and treated", but the obverse is also true.  I mean, to tell a mother that, "If you had not screened your child would not have been subjected to unnecessary and harmful treatment", like those children seriously harmed by the PKU dietary restrictions.   I mean actually my reaction to the PKU story was a little different from Paul's.  I know Paul was there.  He was there at the start of everything.  And so he —

PROFESSOR McHUGH:  Since so little has happened in psychiatry you can be there at the beginning. 


PROFESSOR SCHAUB:  You know more about this than I do but I just found that devastating.  The thought that a woman who, you know, this disease was caught and she was spared this mental retardation but then went on to pass this onto her children, you know — or not pass it on but, you know, have the ramifications that her child ended up mentally retarded, I mean, I understand now that we are able to catch that and address it but it just seems that progress, you know, comes at these terrible prices.  So I think that is an argument, given our ignorance and because of the possibility of mistakes, that's an argument for the advantages of state variability.  At least you can find and limit the scope of those mistakes.  So I would only want to see us move toward uniformity of legislation when we really have a firm sense of the common good and so we should take advantage of this, you know, natural testing ground of the states. 


DR. ROBLIN:  As the working paper points out, vis-a-vis federal responsibilities and state responsibilities, there is variety and variation among the state programs and I think you could hear from the way Dr. Alexander presented things that for him at least this is a — the non-uniformity is a driver in a couple of different directions.  It drove him, he said, in the direction of technology development that would reduce the cost and make it possible for state programs to be comparable all the way across the board.

And I think people who tend to promote screening and I think Dr. Alexander wasn't quite fair in terms of the Federal Government's role in this.  I think when he was asked about this, he said, "Well, this is really a matter for the states", but as the working paper points out, the Federal Government has nudged the states pretty hard and pretty directly in the direction of expanded testing and there's both an anecdote from the State of Texas and I think a more general description of the way in which Federal Government paid for studies recommending a common 29 test panel for the states certainly has had an influence in encouraging states to develop and expand their testing menus.


DR. FOSTER:  I want to ask a question and make one comment.  Leon, is the clarification of your worry and the concern, how much of that is an economic concern, there are only 8,000 or whatever and it's going to cost a billion dollars for, you know, whatever to test and so forth.  I mean, is this basically a concern about the use of resources so that orphan diseases — we have a lot of orphan diseases, as you know, and sometimes they get solved.  Narcolepsy is now solved.  We know what is involved with that and so forth.

Is it an economic argument about that, and then I want to make one other comment.

DR. KASS:  Not only.  That — the economic argument was brought up in the context of if we do treat this as a public health matter, then it ought to be, I think, deliberated in the general argument of what's in the public health.  I guess if you ask me what am I personally concerned about here, it would come under the sort of funny heading of not only toxic knowledge and where you might have certain kind of knowledge that you can't put to any good use.  You have knowledge that there is some impending disease for which there is no treatment but toxic misinformation or toxic opinion based upon misunderstanding, say in the false positives, especially when, and this is a thing I didn't mention before but I think it's very important, doing the testing however sophisticated, that's easy relative to actually communicating with these poor parents what the meaning of all of this is. 

And it's very easy to say, "Well, we have to develop the resources to make sure that this knowledge is put to good use and that there are people there — and I don't know enough to know whether we have that.  I doubt very much if you're going to multiply the number of things for which you're providing information that you've got the infrastructure necessary to do that right and to do it without producing the harm based upon this toxic misunderstanding and the — so it's more that than the economic thing that leads me to say — there's something — in a way we've got some precedent but the precedent — how we manage the precedent, I don't think we know well enough how well we've done with the screening that we've had so far to be confident about expanding this, leaving alone the question of whether this is as public health calculation the best expenditure of resources. 

DR. FOSTER:  Let me just finish — I just want to make one other point.  There is an advantage, there is an additional advantage that doesn't apply immediately to the children that we're talking about here and that is what one may learn for the larger community that might be involved in public health.  One of the rarest of the genetic diseases is progeria.  You'll remember this as a disease in which these children look like they're 95 years old when they're five and most of them die by the age of 13 and they have a mutation which causes the appearance of a protein which is called progeria and there's a splice — I don't want to get too much into what the problem is but they're missing a splice that allows this molecule to move away from the membrane of the nucleus so it's stuck on the nucleus and the nucleus gets very blebbed [forms blister-like changes] and destructive and that's what causes it.

Within the last month or six weeks, don't hold me to the exact time, there's now an observation from human cells that are aging that shows that they randomly develop the same cleavage defect that is in progeria and as a consequence with aging cells, the progerine is now present in normal human persons.  So there — there's not a whole lot you're going to be able to do for these — it was thought that there was not anything that you could do for this but it turns out — I'm going to get too technical.

There's a molecule in cholesterol called farnesene and many proteins are farnesylated, meaning that farnesene sticks to them and alters what they do.  For example, the Ras oncogene [a gene that causes cancer] is activated by farnesylation.  It turns out that in the progeria, if you use inhibitors of farnesyl transferase, that is the enzyme that puts the farnesene on progerin, you prevent the syndrome of progeria in the animals.  Trials in humans are under way or will soon be undertaken.

Now, the implications here are astonishing because it might well be that a simple drug that's already approved might have something to do with aging or premature aging.  The point I'm making is that there may be benefits from screening and study along the science within what we're talking here that may, in fact, have public health issues beyond the 4,000 or the 8,000 which are here.  I mean, this is really an astonishing finding that with farnesyl transferase inhibitors that this syndrome — it's in clinical trials.  Francis Collins' lab is one of the ones that would be really involved in this and they're going into — you know, this is such a rare disease, to do it in humans is really going to be a problem.

So the point is that maybe the costs might benefit some things, but we learn so much from abnormalities, we learn a great deal in science about what's normal from what's abnormal and so I just wanted to throw that point out.


DR. HURLBUT: To add to that point, not only are diseases provide unique probes into basic molecular mechanisms, but there is something to be said on this issue of screening newborns and other phases of life for genes for conditions we can't treat because at this stage, we could follow their phenotypes in a way that once there starts to be some kind of suggested treatment, we can never do it again.    And that's not to say we want that condition to prevail but it gives us a unique chance to follow it.  I was thinking of this in relationship to the PKU description earlier.  Once detected, all those children were treated.  If they had sensitively probed the findings without treatment, they could have seen another layer of discernment as to what would happen if they weren't treated.  Is that clear?  Do you see what I'm saying? 

In other words, there really is some value to following conditions that we can't treat already.  There — this whole moment we're in, in the unfolding of genetics is providing us with a — just a fantastic opportunity to get to the bottom of our molecular mechanisms and one contribution we could make as a council perhaps a lot of people are working on this field, it's not like — we would have to do something that was drawing together a lot of streams of inquiry and already accumulated knowledge, but one thing we might be able to do is distill it down and fulfill our role as a council to engage and educate the public.

One of the things we might be able to do is to explain the value of this new phase of science and medicine and also to raise some clear cautions about over-interpreting the determinism of genetics.        

DR. ROWLEY:  Well, I initially was going to respond to them but let me begin by responding to Bill.  There's no guarantee what PKU is like because before 1973, there really wasn't a treatment, so you have years and years of experience, though it was rare.  We do know what untreated PKU was like and of course, the other rare metabolic diseases.  We also have some sense of what they were like, but going on to Leon's questions, it's interesting in Dr. Alexander's talk that he gave us a map and looking at the number or newborn screening conditions required as of June 1st, 2006, if you look at the map that he passed out in his — in the handout for his talk, there are 24 states that already test for 40 or more disorders and there are 13 that test for 19 or fewer.

So in a sense, we have the basis for trying to gather some data on how much harm is done in the states that test for more as compared with how much harm is done in the states that test for fewer.  And so we already have in the United Sates, if you will, the ability to collect the data based on the number of states and the number of disorders that they test for to gather some data to see whether being enamored if you will, of more diseases being tested for is a good thing or a bad thing.  So somehow we should be able to gather those data and the data, of course, would — and the kind of data one would like depends in part on the questions one wants to answer.  But I just want to point out that we already have some resources to go back to, to answer the question whether more is really better.

CHAIRMAN PELLEGRINO:   Thank you.  Dr. Carson. 

DR. CARSON:  Thank you, Janet, for making that point because that's what I was thinking about.  But, also I guess the question has come up what have we historically done with data that we've acquired on newborns or prenatal individuals?  And an example I think of specifically deals with the fact that almost all women in this nation now receive ultrasounds during the course of their pregnancy and you know, a number of things can be picked up on those ultrasounds, one of which is hydrocephalus.  And almost uniformly, when there is an indication of hydrocephalus a recommendation for termination is made.

I, as a pediatric neurosurgeon, have an opportunity to see many such patients as they're in the decision making process.  I have an opportunity to explain the implications of hydrocephalus but a significant number of those patients who decide not to go the abortion route it turns out end up with children who are normal, who never required a shunt, never required anything and yet had come to see me for a recommendation for abortion.

So, I just want us to throw into this mix that you know, we do have substantial data about what people have done when they have gathered the data and what they've done with it and maybe we should be trying to think of better ways to use the information.

CHAIRMAN PELLEGRINO:  Other questions or comments?  Dr. Meilaender?

PROFESSOR MEILAENDER:  As I listen, I find myself thinking that one way to sort of organize, at least in my mind the number of things that have been said, does turn on the — on making up your mind about the uniformity issue because there have been a number of questions that it's not quite clear what one ought to think or it may be that, you know, there's a reasonable argument to think different things about the wisdom of screening for conditions that one can't  yet treat, about the connection between the use of this kind of knowledge for newborn screening and the use of this knowledge in prenatal screening, about the degree to which the problem of false positives may have a sort of bad effect in terms of creating parental anxiety and can't really be fully relieved and so forth.  So there are a whole range of questions that reasonable people might think differently about.     Why should everybody have to think the same about them?  Why shouldn't different states, perhaps quite reasonably think quite differently about them?  That's — I mean, that's the direction that I find myself thinking with respect to that.  There are some other possibilities, too.  The thing that Dick mentioned that even if you fold some portion of this under the rubric of research rather than public health, that doesn't rule out the possibility of cooperative arrangements like the New England one that he mentions to share knowledge and make progress.

So that I guess as I try to organize what's being said, it just seems to me that where I find myself balking is on the notion that there's a persuasive argument for some single uniform policy because on a lot of these things reasonable people might well think differently and I can't figure out exactly, you know, why there should be a knock down, drag out argument for thinking only one way, at least that's the way it seems to me at the moment.

CHAIRMAN PELLEGRINO:  Thank you.  Dr. Bloom?

DR. BLOOM: Let me offer an alternate approach.  It seems what I heard from the last several rounds of discussion was that the uses and — the acquisition and uses of genetic information encompasses a lot of the concerns that were expressed and around that, I feel more urgency than I do about the newborn screening issue because there the technology is going to evolve and the possibility of broad sensitive accurate tests in the future may well provide some of the answers both to uniformity and to the ability of the poorer states to apply these rules, but the uses — collection and uses of genetic information is a situation that we're going to have increasingly before us and the implications of having a gene that in some cases sensitizes you to develop a  cancer and in other cases does not and what makes the difference is going to apply not only to pediatric illnesses but to diseases across the age spectrum.  It seems to me there's a lot more issues there.  The HIPAA issue, the ability to have registries where clinicians can go and find the patients who can stratify in these ways, those are issues that we run up against laws that don't necessarily help individuals.  If we could clarify the issues that Professor Schneider raised with regard to the employment and insurability of people who have had genetic tests done, I think that would help the public understand that they ought to embrace the genetic testing rather than be afraid of it.


PROFESSOR SCHNEIDER: I want to supplement, I think, what Dr. Bloom said.  There is an increasing amount of ethical and legal discussion about the — about how you can use medical information that has been accumulated in the past.  And there is a lot of suggestion in the ethical literature that you cannot use those data without getting fresh permission from all of the people who contributed to the data, which essentially makes the data collection impossible.  And there are also some legal questions about things like who owns that information, does the physician who acquired the data in the first place own it to the extent of being able to move to Northwestern University and to take the data with him?  Do the patients who gave the information in the first place have the ability to give him permission to take the data with him?  Does it belong to the university that hired him when the data were first collected and so on. 

But the presence of a large, truly huge amounts of useful medical information that cannot be accessed under these kinds of proposals I think is certainly the kind of topic that we would be well advised to be paying attention to.

CHAIRMAN PELLEGRINO:  Thank you.  Dr. Carson.

DR. CARSON:  Just a little addendum for that; there is precedence, of course, for the government feeling that they have ownership of the information because there are certain diseases that we are required to report on people who come to the emergency room and various places.  It's mandatory that they have to be reported.

PROFESSOR SCHNEIDER: There are many kinds of —


DR. KASS:  This is a question for Dick or Janet or anyone else who might know.  This is to come back to the limited topic on which Dick has prepared this paper and he's given us three possible further steps for the Council.  I guess it would be relevant to ask if any other groups who are closer to this subject are doing anything at all on the ethical dimensions and of the concerns that are, in fact, expressed in your paper.  I meant there are individuals we know and they appear to be for us and they even write papers on this, but does anybody know whether if we were to tackle this we would be duplicating efforts that are now proceeding elsewhere?


DR. ROBLIN:  I am not aware of any specific efforts that we'd be duplicating.  I think it is really important for the Council to find an approach to this area that makes sense and that you all are comfortable with.  I guess there's one suggestion in the last section of the working paper that came out of my reading of some previous papers that had attempted to figure out what kind of criteria ought to apply to newborn screening programs.  And the closest thing they could come up with influenced, I believe in part by the public health framework in which these programs are embedded were these 1968 WHO criteria, which really, if you read them carefully, and think about the current size and dimensions of the total US newborn screening program, I think are not very applicable.

So one concrete suggestion or idea that I had was to sort of take that framework but try to apply it in a sensitive and knowledgeable way to the dimensions and scope of the current US newborn screening program.

CHAIRMAN PELLEGRINO:  Thank you, Dick.  Questions or comments on this paper?  On any other subject?  I would put some limits on that, but as an opener.  Dr. Rowley?

DR. ROWLEY:  Well, I just want to endorse the idea that newborn screening is one aspect of DNA analysis and whether we want to get into the larger problem, again, you know, this is such a rapidly moving field, both in terms of technology — especially in terms of technology because what one can do with regard to people is really driven by the technology and chips have changed everything and new technology that's coming forward that may replace the chips. 

So I come back to what I said earlier, this is an area, I think the Council should move with caution.  Not that we should ignore it, but we have to make sure that we can add something that's going to be important.

CHAIRMAN PELLEGRINO:  Make haste slowly. Any other comments?  Oh, I'm sorry, Leon.

DR. KASS:  This is really a response to Janet.  Granting that the technology moves rapidly and in some ways defines the problem, that itself seems to me to invite a counter-thought, namely somebody ought to be thinking about the things that Dick puts in his last sentence, "The goals, the guidelines and the criteria", what it is we're actually trying to do here rather than to let the entire thing simply be driven by the technique. 

The technique will, of course, force certain questions but unless one wants to simply follow the logic of the technological imperative into this area without some kind of view of what the human purposes are, I think we could make a lot of mistakes.  So —


DR. ROWLEY:  Some of the concerns are going to disappear with improved technology and so you'd spend a lot of time on something that's going to take care of itself and I guess that's my major concern.

Thank you very much, and have a good summer.

(Whereupon, at 11:58 a.m. the above-entitled matter concluded.)

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