Do you own what makes you, you? Or, does the government?

Important news was issued yesterday on the legislative battle over the State collection of genetic material on newborn babies to use for government-endorsed genetic research without parents’ consent. Last night, the Minnesota Senate Judiciary Committee voted against consent rights (ownership) of infant blood and DNA, reported Twila Brase, RN, President of the Citizens' Council on Health Care. That means DNA material on children can be stored and used by the government or third parties without the consent of parents. The bill (SF 3138) now goes to the Senate for a full vote.

This is a complicated issue of medical ethics and privacy, public health over individual rights, the integrity and advancement of science, genetic discrimination, and the potential abuses of genetic information by the state. As reported last year, the CCHC had discovered that for ten years, the Minnesota Department of Health had been illegally collecting DNA material on at least 780,000 babies which it was storing indefinitely, and has already given away the material on more than 41,000 babies for genetic research, all without the knowledge or consent of parents. Since then, the CCHC has been working for informed consent and arguing that the state cannot take or use genetic material without parents’ consent. The CCHC has cautioned that the state’s genetic database will soon be linked electronically to its medical database, with a permanent impact on patient records and genetic profiling that could be used against people by insurers or employers. Few parents are even told of their rights or given the option to opt-out of testing or allow testing, but require the blood sample to then be destroyed and not retained by the state.

No one is arguing against saving the lives of babies or preventing the devastating effects of genetic and metabolic conditions. These can be the benefits of screening programs that accurately identify conditions which have effective treatments. [For an overview of newborn screening tests, some of the metabolic and other conditions included, and the value for babies and parents, the March of Dimes offers a parent guide here.]

But we almost never hear the downsides, the past history of failures of screening programs, the problems and reliability. With advances in technology making new forms of genetic screening possible, despite limited understanding of the risks or accuracies; the ability to detect growing numbers of conditions for which there may be no effective or necessary treatment; the ability to pick up abnormalities that we may have no understanding of what they mean or that might never cause a medical problem; the growing commercial interests in using genetic technology and the potential for abuse; it is imperative for us to think about this. Now.

National agencies and interest groups under the National Task Force on Newborn Screening have recommended a mandatory federal government-run uniform newborn screening program that is integrated with the health care delivery system and under public health agency oversight. (It would be administered through the U.S. Department of Health and Human Services (HHS), Health Resources and Services Administration (HRSA), Centers for Disease Control and Prevention (CDC), Health Care Financing Administration (HCFA), Agency for Healthcare Research and Quality (AHRQ), National Institutes of Health (NIH), and other agencies.) They argued against parental informed consent, in the interests of public health. Their other recommendations included the development of public health databases integrated with the newborn screening system and genetic data collection. Along with the push for nationalized electronic medical records and the government’s proven inability to not allow the healthcare system to be overtaken by commercial interests, this deserves our attention before we’ve tumbled down the proverbial slippery slope.

According to the Task Force, 49 states require newborn screening, but only 3 states have provisions for informed consent. Maryland has a voluntary newborn screening program, Wyoming uses an informed consent model and Massachusetts recently began using an informed consent process in a pilot program. Most states, it found, permit parental refusal, but only under limited circumstances. However, parents are rarely told that refusal is even an option, and mandatory offering of screening is often confused with mandatory screening.

We cannot begin to address all of the medical, legal, scientific or political issues surrounding this debate in a blog post. But the fascinating ethical discussions of newborn screening that have been taking place at the President’s Council on Bioethics deserve recognition, especially in light of recent legislation across the country. Last Friday, the Council met in Arlington, Virginia, to discuss the development of its paper on the ethics of newborn screening. I want to share some of the points raised by the pediatric and medical ethics and genetic experts at this meeting, as well as two earlier conferences.

[Note to readers: The Bioethics Research Library at Georgetown University has archived these valuable bioethical papers and discussions from the President's Council on Bioethics, led by Dr. Edmund Pellegrino, MD. You can now find them here. The Obama Administration removed from the government's website all of the papers and discussions from the President's Council on Bioethics. As one of its first acts, the Administration dissolved this long-standing Council, which had examined issues in light of the ethical principles guiding medical practice, the Hippocratic Oath, and human experimentation that arose from the 1946 Nuremberg trials when the world witnessed distortions of medical ethos for political and economic agendas. The new commission established by Obama's Administration has been given a new mandate to help it establish "ethically defensible" governmental policy. It has also redefined medical ethics itself. Now, the value of human life is based on one's value (and costs) to society and the state; and medical care is allocated based on what serves the interests of "public" health. Medically ethical behavior is no longer devoted to the patient's best interest, along with the patient's right to informed consent and freedom of choice and autonomy over their own bodies.]

As we look at some of the ethical issues and the history of newborn screening, we find it filled, not only with promising potentials to help babies, but with shocking cautionary tales.

Warning: This is a very long post, but I hope one that provides healthcare professionals, parents and readers with interesting and valuable things to consider that haven’t been raised in mainstream media...

Bioethics and American Children — December 2005

I want to begin by sharing a talk by one of the most renowned experts on pediatric ethics, Dr. Norman Fost, M.D., M.P.H., professor of pediatrics and Director of the Program in Medical Ethics at the University of Wisconsin Hospital in Madison. [I'll confess to being especially affected by his talk, not only because I’ve watched similar developments in pediatric research and found his insights thought-provoking, but because one of my university thesis papers was on phenylketonuria (PKU). He reveals disturbing and stunning information on PKU screening in the early days of newborn screening that wasn’t known by most healthcare professionals some 35 years ago, and downsides that few ever thought to even consider back then.]

Before beginning any discussion of genetic screening, he said it was important to understand the history of newborn screening, which illustrates why it’s important to not simply jump behind and do every available screening test because we believe it might save lives, especially before we know what we’re doing. PKU screening was begun under the assumptions that a positive result meant a baby had the disease and that the available treatment was safe and effective — both turned out to be horribly wrong. The result was thousands of normal kids who were wrongly diagnosed and killed or left brain damaged when given a treatment that proved to be ineffective and dangerous. The problems have since been sorted out, but PKU hasn’t been the only screening test to run into problems or that will again, which makes this an important history lesson. While his entire talk was a fascinating look at the evolution of ethical issues in pediatric issues, for today’s consideration, here are excerpts specifically addressing newborn screening:

In 1960, PKU, Phenylketonuria, was known to be an admittedly rare, but a well understood, cause of profound mental retardation. It affects approximately 1 in 10,000 live-born children. The biochemistry of it was fairly well understood. It's due to inability to metabolize an amino acid named phenylalanine, which is ubiquitous in proteins. It was known that if you could diagnose this early enough and get a child started on a restricted diet [low in phenylalanine] that you could ameliorate, and in some cases prevent completely, the profound brain damage that uniformly occurs...

[Back then, the only test available was a urine test done at the baby’s first check-up, but by then, brain damage had already occurred.] There were three breakthroughs in 1960 — the discovery by Dr. Robert Guthrie of a simple test, making it cheap and efficient to diagnose this condition on all newborns on a single drop of blood; second, the development by Mead Johnson of Lofenalac, a low phenylalanine milk that was reasonably affordable and palatable; and, three, the election of John Kennedy. President Kennedy, because of his profound interest in mental retardation, his family's interest, with Dr. Guthrie formed a so-called PKU lobby and arranged for laws to be passed in all states requiring PKU testing...

The problem was, it turned out, that the PKU test was the worst test in the history of the world. It had a sensitivity and specificity that have not been matched to the best of my knowledge. That is, the test had a five percent true positive rate. It had a 95 percent false positive rate. That is, a child with a positive test, confirmed by a whole blood assay, had a 20 to 1 chance of being normal.

This was not appreciated for many years. So many normal children, we now know, were started on a restricted diet, and it turned out that a phenylalanine-restricted diet was as harmful, or more harmful, as a diet with excess of phenylalanine. That is, this essential amino acid, when withheld from normal children, resulted in brain damage due to starving of brain cells, and every other cell in the body, because phenylalanine is a part of so many proteins.

So many children — we don't know how many — were made retarded by this program. Some were killed. In fact, kwashiorkor developed in America in the PKU program in children who had profound protein malnutrition because of the restricted diet... when this happened in a normal child, it's obviously a major tragedy.

In 1965, the American Academy of Pediatrics sent a letter to the Secretary of DHHS urging that the mandatory PKU screening programs be stopped, because we didn't understand the significance of the test, and we didn't know how to regulate the diet.

This letter was suppressed. People were called Luddites who were against newborn screening. The PKU lobbying was very powerful, and testing went on until 1971 when a political scientist named Joseph Cooper uncovered this story through the Freedom of Information Act and led to the appointment of the IOM Committee, whose report was published in 1975 articulating principles for ethically responsible newborn screening, particularly genetic screening or screening for genetic disorders... There is virtual unanimity on the principles of responsible genetic screening, and newborn screening in particular....

The only problem is that the [IOM] guidelines are systematically ignored. That is, newborn screening has expanded like topsy, with the same mistakes that beleaguered the PKU program happening over and over again. That is, numerous screening and treatment programs have been implemented without testing, evaluation of the tests, without any systematic study of the sensitivity, specificity, or predictive value of the test, or of the interventions.

This happens in part because genetic testing and treatment falls outside of the regulations of the FDA. That is, there is no toll gate through which an investigator or an innovator has to go to get these kinds of programs approved. He or she only needs to persuade existing committees and state health departments to simply add another test onto the drop of blood or the drops of blood that now exist for virtually every newborn in America.

I won't take time to rehearse for you other examples of newborn screening gone awry, and the large number of children in my view who have been killed, normal children in some cases, by screening and treatment programs that have never been adequately evaluated. Not enough research.

The new technologies, such as tandem mass spectrometry, now make it possible to test for hundreds of conditions on this single drop of blood. And, indeed, a committee of the American College of Medical Genetics has persuaded the Secretary's Advisory Committee on Genetic Testing to recommend to the Secretary national implementation of a uniform standard for testing of newborns using tandem mass spectrometry.

These recommendations include over 50 conditions, half of which have no known association with human disease. That is, approximately half of the tests on the committee's recommended list are abnormalities that have been observed whose relationship to clinical manifestations are unknown or uncertain, and the other half roughly involve serious diseases but diseases for which the sensitivity and specificity and predictive value of the test is unknown, and in which the interventions have never been systematically tested.

It is telling, in my view, that the UK equivalent of the FDA has recommended implementation of only one of these 50 conditions. Even worse, multi-array DNA testing — that is, the ability to test for a thousand genetic variations using recombinant DNA techniques on a single drop of blood is also now upon us, and work is proceeding rapidly to add multi-array genetic testing to the newborn PKU spots.

So we now already have many states, including Wisconsin, that does routine testing without consent, without prior research, for dozens of conditions using tandem mass spectrometry. And I predict, unless there is some dramatic change in the way we think about these things, the way we do these things, that multi-array DNA testing will occur within the next few years, as soon as the cost comes down to make it efficient to do it.

This, to me, is a calamity involving every child in America, the amount of mischief. The amount of harm, psychosocial harm that will occur to families and children, not to mention medical harm, is, in my view, going to be quite extensive.

And, worse, 20 years from now we won't know what harm has been done, because in the absence of systematic studies we won't know which children were helped and which were harmed, because we won't know whether like — in the PKU program, we won't know if a positive test meant that that was a child who was destined to become brain damaged or dead, or whether it was a false positive test that had poor predictive value.

The follow-up discussion brought to light additional considerations as he answered the question: “What drives this mania for testing?”

There are several factors that are quite common in these — in this repetition compulsion. One is that the PKU lobby has been duplicated over and over again. That is, there almost always is a very zealous lobby that forms, consisting of parents of children who have died or have become profoundly — you know, if your child died of a rare disease, you understandably don't want to see this happen again to anybody ever.

And so — but you're not a scientist, and so you say it's just unimaginable to me that every child in America isn't tested for this very rare disorder, and so that something can be done about it. So parents are very much out in front of this.

Second, they are put out in front by the testers, some of whom have, frankly, commercial interests, so there is serious financial conflicts of interest in some cases. That wasn't the case in PKU, and it's not the case in all screening programs. But there are commercial testing laboratories who would love to have this happen, and are funding publicity campaigns, as happens in other areas of medicine. So there is just frank commercial conflicts of interest.

Third, there are empires that don't make people rich, but that make people more powerful or influential... My sense of what was going on is that the people at the [advisory] meeting were the equivalent of state lab directors who, you know, it was another machine. It was another couple of people on their staff whose expanded budget — it was getting more information, possibly some research interest. I don't think they were getting rich off of it, but they — technicians like to do things. Doctors like to do things. Testers like to test. So that's part of it also.

And concerning calls for a national government-run system under a uniform policy, he added:

[P]art of [the justification used to support a national program] is very poorly thought out moral claims of justice and unfairness... Well, if it's a bad policy, there's no virtue in it being uniform. There is no unfairness in not distributing something that has no known value or whose harms may exceed the benefits...

If the PKU program had been subject to a — even a randomized clinical trial, which is sometimes hard to justify for what you think is a uniformly horrendous disorder, some children with PKU would have been lost — that is, would fail to have been treated. But many hundreds — we don't know the number — of normal children would have been saved. That is, we would have found out in a year or two, instead of 10 or 15 years, what we were doing. So that's point number one is if these new technologies were studied systematically, I think in the long run we're less likely to harm and more likely to help.

[F]or conditions in which it is hard to justify a randomized trial, even a simple registry ... would at least allow for some observational collection of data, so that 10 years from now we know what the outcomes of all these children are.

Ethical Questions About the Current U.S. Newborn Screening System — June 2006

Dr. Richard Roblin, Ph.D., the scientific director of the Council on Bioethics, talked in more detail about the potential benefits and harms of emerging technology used in newborn screening that can look for conditions far beyond the handful of tests that have proven accuracy and effective treatments. New tandem mass spectrometry, for example, now makes it possible to test for many metabolic abnormalities using a single drop of blood, but how many test results are accurate and how many babies will be helped versus harmed by the resulting treatment?

The American College of Medical Genetics (ACMG) report commissioned by the HRSA, based on the availability of the new technology, has now recommended an expanded testing program where states mandate a uniform screen for 29 different conditions. By pursuing an expanded menu of newborn screening tests, he said, a U.S. newborn screening system runs the risk of making similar mistakes [as described by Dr. Fost with PKU testing] that would harm children.

In considering the ethics of expanding newborn screening, he pointed out how screenings became the domain of public health in the first place:

Newborn screening programs have been traditionally viewed as “public health” programs. They make possible the early identification of children with abnormal metabolic conditions leading to confirmatory diagnosis and possible treatment. Newborn screening is seen as a routine component of childbirth, and in most states no parental consent is obtained before obtaining the newborn’s blood sample and the initiation of testing. Historically, the testing for these programs has been the responsibility of the health departments of each of the 50 states and the District of Columbia, further strengthening the view that these are “public health” programs. When such programs were started back in the 1960s, and included only a few tests, perhaps the public health view was appropriate. Is the “public health” program framework still appropriate to a complex system that tests 4 million newborns each year for 29 different conditions?

In 1968, at the World Health Organization, ten criteria were written which have traditionally come to define screening programs considered for “public health:”

1. The condition is an important health problem

2. There is an accepted treatment for cases identified

3. The condition is recognizable at an early stage

4. The natural history of the condition is known

5. There is an agreed upon policy on whom to treat as patients

6. Harm from a screening program is small in relation to benefits

7. Facilities for diagnosis and treatment should be available

8. There should be a suitable test

9. The screening test should be acceptable to the population

10. The costs and effectiveness of the screening should be balanced in relation to expenditure on medical care as a whole

A number of the 29 tests now being recommended in the ACMG report, however, would not meet these criteria because they are for rare conditions where the safety and efficacy of possible treatments are currently not known. There are also unknowns about how accurately these screening tests identify conditions, what positive findings mean, and the lifetime consequences for someone of being labeled as having a genetic abnormality. So, he said, it is imperative upon us to be more careful to not just look at the good things screening might ideally do, but also admit what we don’t know and the potential harm to children and parents. The goods are easy to articulate, he said:

In contrast, many of the possible “harms” are harder to specify. One, articulated by Dr. Fost, is that individuals will be identified as positive by screening programs and treated, for example, with special diets before we understand the relationship between the screening result and disease, and that some may be harmed thereby. The other is that, because of the low positive predictive value of some of the tests, the operation of the [newborn screening system] exposes a reasonably large number of families to the risk of psychological harm from an initial positive screening test result that is not confirmed on follow-up tests....

[I]f all states tested for all 29 conditions... from 63,965 to perhaps 128,000 U.S. families would initially be given information that their newborn has an abnormal screening test result, and would return for additional follow-up tests that ultimately prove negative for the presence of disease [false positives]. Receipt of such information is stressful for the parents. There are studies reporting that some parents remain anxious for years, even after they have received the results of follow-up tests showing that their newborn does not have a specific metabolic disease. There may also be adverse effects on the children in such situations. In summarizing the results of a Scandinavian study of family responses to such testing results, the authors noted: “Thirty-two families were investigated four years after a false alarm in the neonatal screening of their newborns. Sixteen of the families showed signs of persistent anxiety 6-12 months after the screening.Thirteen of them still showed anxiety after four years. Of the 16 without anxiety at 6-12 months, 6 show signs of anxiety now. This persistent anxiety may be related to the initial psychological trauma of the false positive screening result. Thus, 19 of the 32 families have not completely integrated their experience....”

Medical measures have psychological side-effects, which can be interpreted as iatrogenic... In light of the numbers of families at risk as estimated above there is significant potential for harm when one considers the operation of [a federal newborn screening program].

Yet, with new technological developments, even more tests will likely be added to a national newborn screening program. More significant than tandem mass spectrometry tests, he said, are DNA “chips” that, from a heel stick blood sample, could detect mutations associated with a possible increased risk for diseases that might not show up until much later in life. Would newborn screening then be used to identify anyone with a possible genetic risk for cancer or diseases of aging? The DNA chip technologists, he says, are suggesting that the tried-and-true principle of not screening for things we can’t immediately and effectively treat be abandoned — which could dramatically change the goals of newborn screening and transform it into something more like genetic profiling.

Another concern he raised was that, as of 2002, there was no uniform legal protection of the confidentiality of the results of newborn screening tests across the United States. “Among the concerns associated with non-confidential storage and use of genetic test result information is that it will be used in employment or health insurance decisions in ways that are discriminatory.”

Newborn Screening for Genetic Disorders — June 23, 2006

The follow-up discussion of Dr. Roblin’s paper by the members of the Council on Bioethics revealed how seriously medical ethicists are taking the issue of newborn screening — a point rarely mentioned in mainstream media. Pop media successfully keeps the public distracted with concerns over their diets, body appearance and fashion, while really important issues being decided that will have lasting impact on lives and futures are ignored.

Dr. Peter A. Lawler, Ph.D., for instance, said that newborn screening needed to be investigated as part of broader concerns about the gathering and use of genetic information.

Here are just a few of the comments made by Dr. Leon R. Kass, M.D., Ph.D., chairman of the President's Council on Bioethics from 2002 to 2005, which were especially poignant:

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... 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 data on the 29 newborn screening tests being proposed] 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...

[I]f 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 [initial screening tests] 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... of resource allocation, especially with respect to treatment, efficacy, for loss of these things...

[I]f 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.

Ethics of Newborn Screening — March 7, 2008

Finally, years of discussions and research came together in an especially hard-hitting session last Friday among the bioethicists as they shared concerns over the ethics of newborn screening and what it means for future generations and our country.

Alfonso Gómez-Lobo, Dr. phil, argued that the genomic knowledge obtained through newborn screening is basically good and reasonable to pursue if it doesn’t burden children:

On the other hand—these are all points having to do with the good of knowledge—on the other hand, the potential misuses of genomic knowledge should be seen as reasons to erect safeguards wherever they are detected. For example, the danger of eugenicide should be blocked by legal means that are independent of the expansion of the panel for universal newborn screening. Likewise, the danger of being denied health insurance because of preexisting conditions should be blocked by legal measures but not by promoting ignorance of those conditions. And, of course, there is before Congress the Genetic Information Nondiscrimination Act, which has been passed by the House but is still pending in the Senate. So that would be an example of the kind of safeguards that can and should be erected.

While society may have an interest in knowledge for knowledge’s sake, said Rebecca Dresser, J.D., M.S.:

I'm not sure a lot of people have thought through the downsides, the risks that this will go into your record and so forth. So I wonder about the level of understanding among people who are advocating universal screening for all these different conditions, many of which can't be treated... I'm worried about how thoughtful the pressure to expand screening is among the parent groups. I also am worried about the research justification.

So do people really understand that some of the motivation for collecting these data is not to help their child or their family but to advance science? Now, maybe many of them would say, “Great. I want other families to benefit from anything we can learn about the illness," but I just wonder if people understand that dual agendas are developing, not just personal benefit to the patient and family but also to society. And is that something people want to validate and pursue, or do they want to limit this more to a medical justification?

Concerning the “good of knowledge,” Dr. Gilbert Meilaender, Ph.D., countered with a caution:

I'm not sure I'm quite as confident that it's always a good. But even granting that, I don't know why each of us is under some obligation actively to pursue all the possible goods that may exist. It's one thing to say that knowledge is a good. It's a different thing to say that each of us must actively pursue it. There are lots of goods. We not only don't have to pursue all of them—in fact, you couldn't pursue all of them in a coherent life... whether what we’re talking about is the pursuit of genomic knowledge or whether what we're talking about is finding information that may help to treat people with certain problems.

Dr. Janet D. Rowley, M.D., D.Sc., professor of medicine, molecular genetics and cell biology and human genetics at Pritzker School of Medicine, University of Chicago, said that a critical issue to remember is whether genetic screening techniques are accurate. Except for a handful of the 29 conditions being mandated for screening, medical science doesn’t yet know if in the end, identifying many of these abnormalities and treating them is of benefit to children and their families. Even less is known about what the genetic findings mean.

[W]hat they're talking about is the detection of mutations of some sort in protein-coding genes, which probably account for, say, 2 percent of our genome. And what the rest of it is doing in terms of its contribution to us as living human beings is something that science is only now beginning to understand, so that you may have perfectly normal genes, but their epigenetic control may be abnormal... And I think we also have to recognize we all carry about 7 percent of, if you will, genetic mutations which under certain circumstances could be deleterious but under other circumstances can be very beneficial, so that it partly depends on what your circumstances are as you grow up whether a particular gene is beneficial or not to you.

Dr. William B. Hurlbut, M.D., a professor of neurology and neurological sciences at Stanford Medical Center, Stanford University, brought home just how complicated this issue is and what the meaning and kind of knowledge genetic tests are actually bringing to us:

We have to be very, very careful as a society in introducing worry, not just without direct therapy but worry that just changes the sense of how a parent relates to their child or a child to him- or herself. It's obviously an invitation to intervention of some kind, even if it's statistical, and that makes it even more complicated. Suppose you have a 60-percent chance of some condition or disposition of personality that is negative for, say, educational aptitude or something. Parents are going to be invited to intervene in ways that may be even pharmacologic at an early age, and what a dilemma that puts people in. And it turns every child or at least many children into not just research subjects for a wider grasp of knowledge but into patients instead of just children growing up.

And there could be good in this, but it's a very tricky business because very quickly it could move from an individual invitation to the family to a realm of social pressure... It's always dangerous to bring up the experience of Nazi Germany, and I don't want to do this in an inflammatory way. But there is something overarching here that I think is valuable to consider.

There's an extraordinary essay by a man named Leo Alexander called “Medicine Under Nazi Dictatorship." I think that's the title of it. And I don't want to speak of the egregious abuse of human rights of the Nazis, but the more subtle program that allowed this to be pervasive, even within the medical community. There was a shift of attitude that he describes where medicine went in the mid to late nineteenth century from being really an arena of compassionate care...

Medicine moved from being a relatively ineffective profession at the end of the nineteenth century to starting to have some really effective interventions. And this led us from the realm of care and comfort to the realm of treatments. And then, logically, treatment became early diagnosis and preventive treatment. And preventive treatment then became prevention of any symptoms with whatever interventions you could do...

But there is this strange shift in this process that moves from a focus on compassion and a focus on the deep human realities of what's happening to a much more mechanistic and social perspective on the phenomenon such that you relatively quickly in your inner mind, your general personal psychology and social attitude, move from prevention to a — I don't know quite what the right word is, but it's a preemptive disposition.

And I'm personally concerned about this because it'll take us time, and as a human civilization we'll mature into this new knowledge. But one thing we need to bear in mind in this process — and we could bring this out in a report, I believe — is the depth of the human meaning of all of this, the importance of sustaining the fundamental core of what medicine and, of course, all of individual and social life is.

It's a human, personal process and a collective process that we are not products, and our children should never become products. We are processes and journeys, and these journeys are inevitably going to involve a dimension of suffering and, as we pointed out in our other reports, frailty and ultimately finitude.

And this kind of knowledge that we're entering into could change not just the general character of our culture but our internal experiences of what life is.

I think we could use the subject of newborn screening as a moment for speaking more broadly to the whole other side of testing in general and speak about some of the personal dimensions of this and also, by the way, some of the commercial dimensions because there's different kinds of discrimination. I mean, when you do the equivalent of seductive advertising, especially when there's fear involved, and draw people into testing that is largely inconclusive or useless or even misleading, there's something really wrong going on there. And even if the FDA controls some of that, or whatever agency would, there's some things to warn people about. And so the broad social attitudes, the specifics of the relationship within commercial society, and the personal dimensions of this I think are very worth commenting on.

The concerns of groups such as CCHC and bioethicists, that parents and the public deserve to be fully informed of the risks as well as the benefits of genetic screening and that people need to retain full ownership of their personal genetic material — what makes you, you — speaks to far greater issues. It is ultimately about what rights and choices individuals in a free society retain and what they give away to the government. While the 'need' for the government to house and use genetic information on people without their consent deserves close scrutiny itself, the fact that the government is even disputing the right of people to own their own genetic material is the most unsettling aspect of all.

© 2008 Sandy Szwarc