Risk, autonomy, and responsibility: informed consent for prenatal testing.
There are currently two distinct types of prenatal tests being offered to pregnant women that can give them information about the health of the fetus: prenatal diagnostic tests and prenatal screening tests. In general, it is the diagnostic procedures, such as amniocentesis and chorionic villus sampling, that people think of when they hear the term prenatal testing. These tests are invasive and carry some risk to the fetus and they require considerable procedural skill and are expensive to perform. Thus, they are only recommended for women considered to be at high risk of having a child with a birth anomaly.
However, in the last decade, with the development of the maternal serum alpha-fetoprotein (MSAFP) test, prenatal testing has undergone a paradigm shift. MSAFP, a maternal blood draw that screens for neural tube defects (serious anomalies of the fetal brain and spine), represents the new prenatal screening: procedurally simple, inexpensive, and noninvasive procedures that can be offered to all pregnant women.
From Diagnosis to Screening
Alpha-fetoprotein is a substance normally produced by the fetus. In 1972, Brock and Sutcliffe of the United Kingdom reported finding elevated levels of this substance in the amniotic fluid of a woman carrying an anencephalic fetus. During the course of one further study, Brock and Bolton identified a case of anencephaly through analysis of the concentration of alpha-fetoprotein in the pregnant woman's blood alone. Replication of this finding with high risk women indicated that maternal serum levels were not reliably diagnostic, but might be an effective screen for a variety of neural tube defects. This led to a change away from the development of a diagnostic procedure to be used with women at risk, to a screening procedure to be used with all women.
Interest in detecting neural tube defects was greater in the U.K., which has the highest worldwide incidence of these defects, than it was in the U.S. Widespread use of the test in the U.S. was resisted until strong impetus for its adoption was provided by the medical malpractice concerns of professional organizations such as the AMA, at which point MSAFP quickly became a part of standard prenatal care.
Alpha-fetoprotein soon turned out to be a marker of a broader range of health problems than was originally suspected. Serendipitous findings first linked out-of-normal-range amounts of AFP to Down syndrome and other fetal chromosomal abnormalities; later, some unexplained positive results were found to correlate with placental and other nonspecific problems with the pregnancy. MSAFP has very low positive predictive value for chromosomal defects and there are no specific recommendations for managing "at risk" pregnancies identified through MSAFP. Nevertheless, expanded uses for the test have aided its acceptance into routine prenatal care.
The routine use of MSAFP screening during pregnancy has implications that extend beyond its current range of applications. Most profoundly, it has introduced the idea of a simple, unremarkable, and expandable modality of fetal testing that is appropriate for use in every pregnancy. Thus, for example, when it was found that additional analyses performed on the same maternal serum sample could improve the sensitivity of the test for Down syndrome, this multiple marker" screening was introduced with virtually no discussion of any new ethical, legal, or social issues it might involve. Only laboratory issues were considered relevant. As expanded genetic analyses or new maternal blood screening techniques, such as fetal cell sorting, become available, what safeguards exist to insure that the ethical and social entailments of these advances will receive appropriate consideration? One safeguard that might be posited as already in place is the practice of requiring informed consent for any prenatal screening procedure. A crucial question, therefore is how well these consent procedures are working for currently existing prenatal testing.
Informed Consent in Theory and Practice
One of the most fundamental questions posed by the paradigm shift toward noninvasive population-based procedures is why informed consent is necessary at all. In the case of amniocentesis, it is logical to assume that what makes informed consent necessary is the procedural risk involved, just as for any other invasive medical procedure. In the case of MSAFP screening, however, there is no special procedural risk. What then is the basis for informed consent?
Elaborations of the original idea underlying the doctrine of informed consent--that medical treatment involves touching another person's body and therefore requires that person's explicit permission to avoid being battery--comprised the basic body of consent law in the U.S. from the eighteenth century until the emergence of the notion of informed consent in the 1970s. Legal scholars reasoned that while mere consent to a procedure can be implied by a patient's actions, if the facts about that procedure were misrepresented to the patient, then the consent was based on fraud and is not valid. Consent, therefore, must always be informed.
Some scholars suggest that the interconnected influences of the consumers' rights movement of the 1960s and '70s, along with a broad questioning of the legitimacy of authority in that same period, led to a critique of the traditional patient-provider medical relationship based on benevolent paternalism. Critics sought to institute a more contractual relationship that would emphasize respect for the autonomy of the patient. Informed consent was seen to be a key element in creating this new type of doctor-patient interaction.
Many contradictions and tensions in this development are directly relevant to the subject of informed consent for prenatal testing. The most fundamental is an unresolved tension between the original emphasis on obtaining consent to treat patients and a newer emphasis on informing patients. Those scholars who emphasize legal consent generally limit their discussion to issues surrounding the need to protect patients from "fraudulent misrepresentation"; that is, to whether the patient was well enough informed to have given a true and valid consent to the procedure. For those who emphasize the educational part of the doctrine (primarily bioethicists), however, the purpose goes beyond a patient's right to be free from unwanted risks to and intrusions on one's person. Rather, these scholars believe that adequate informed consent is an essential aspect of respecting the patient's fundamental human right to autonomous decisionmaking.
The nature of the tension is perhaps best captured in a distinction that has been drawn between informed consent understood as a process and as an event. The process model is closer to what bioethicists see as necessary in stressing that medical decisions are rarely made at one moment, but rather are an ongoing process that takes place while the emotional, physical, and informational status of the patient is changing. The goal is to "integrate informed consent into the physician-patient relationship as a facet of all stages of medical decision making." The event model, hewing closer to the legal logic of consent, is quite different. It assumes that a medical decision is a "discrete act that takes place in a circumscribed period of time, usually shortly before the administration of treatment and [it] emphasizes the provision of information to patients at that time."
While the process model is clearly an ideal, requiring great psychological and pedagogical skills from the physician, the event model is the usual practice. Where bioethics focuses on what are the fundamental human rights involved with being a patient, the law looks to how a suit might arise in the particular case. An answer to this last question is absolutely fundamental to understanding the implementation of informed consent for prenatal screening.
Although different states in the U.S. uphold somewhat different causes of action in informed consent cases, there are certain shared elements. These include the necessity for the plaintiff to demonstrate that the health care provider failed to meet the disclosure standard and that the plaintiff subsequently consented to a procedure to which, had proper disclosure been made, she or he would not have consented. In addition, and perhaps of most importance to our discussion, the plaintiff must prove that this failure of adequate information led directly to some type of damage.
In recent decades, as the number of successful informed consent cases has increased, so has the perception on the part of health care providers that medical practice now involves managing the risk of their own legal liability. As a result, the consent form has come to be seen as an important defensive legal document, rather than as part of a process of patient education.
Consent and MSAFP
Although little has been written on this subject, bioethicists such as Ruth Faden and George Annas do believe that there are special aspects of MSAFP screening that require informed consent, even in the absence of physical risk. These include the fact that MSAFP screening has the potential to present a woman with an ethically complex decision about whether to terminate or continue a pregnancy and that the cumulative societal implications of these individual decisions could be eugenic.
It is striking, therefore, that the ethical dimensions of MSAFP screening, especially its connection to possible abortion decisions, are most often assiduously avoided when informed consent is implemented. But this is exactly what we discovered in research we are conducting on women's and providers' reactions to the California MSAFP program.
California is the only state to have a legal requirement that all pregnant women be offered this screening and the state has put much effort into the design of patient education and informed consent procedures. This includes the mandatory provision of a state-written patient education booklet to each pregnant woman. Yet what was stressed at the time of our research were the various benign reasons a woman might receive a positive test result, while, at the same time, the information given about the conditions MSAFP screens for is extremely vague and general. Similarly, discussion of what would happen if the test showed that the fetus had a birth defect is left to a small paragraph on the last page of the booklet. Even then, the answer given is only that "different options would be discussed" and that services are available to "support whatever decision the woman makes." "Option" and "decision," therefore, appear to be code words for abortion, while 'special services" and "support" are the only indications that this decision may be painful or morally difficult.
These issues were likewise avoided during the prenatal medical intake appointments at which women were told about MSAFP screening. This whole process of giving women this information in fact appeared geared to routinize the test as an unexceptional part of the standard prenatal care package. The test was often described as "just a simple blood test," and although women might be told that the test was not mandatory, they were just as likely also to be told that it was a California state program or that it was recommended. The conditions MSAFP screens for were defined vaguely as, for example, "misgrowths of the brain or spine," or merely glossed by phrases such as 'the test looks for some birth defects in the baby" or even "the test shows how your baby is developing. " In no intake was a woman given information about the physiological, emotional, or familial effects of any of these conditions.
Clearly this manner of explaining MSAFP screening runs counter to each precept of the bioethical underpinnings of informed consent: women are not being given sufficient information to make a thoughtful decision, nor are the moral or ethical dimensions of the screening--such as its connection with abortion decisionmaking--being broached. If not the physical risk of the procedure, and not bioethical concerns, what is driving informed consent in this case?
The best way to approach this question may be to ask what would be a viable cause of a lawsuit concerning MSAFP screening. We have already determined that the mere fact of a woman being tested without her complete understanding of the meaning of the test--although possible to construe as an affront to her autonomy--would ot lead to a judjment in favor nof the plaintiff because there wold have been no actual damage. In fact, there is no situation in which a woman is tested that is likely to lead to malpractice jeopardy for a physician.
The jeopardy occurs only when a woman is not tested. Then the scenario would be as follows: A woman is not offered MSAFP screening, or claims to have been inadequately informed and not understood what she was refusing, or (as in one case at a California HMO) the health care provider loses the consent form that indicated the patient's refusal. The woman subsequently gives birth to a baby with a neural tube defect and claims that had she been properly informed she would have accepted MSAFP screening and follow-up testing, would have chosen to terminate the pregnancy, and the baby would never have been born.
Such suits fall under either a wrongful birth or wrongful life rubric. Wrongful life cases are the more controversial, and, so far, less successful of the two. Here the plaintiff is the handicapped or ill child, who sues a defendant for damages stemming from the very fact of his or her existence. Although some states, such as California, recognize a cause of action for wrongful life, we are not aware of any case in which damages have actually been recovered.
In wrongful birth cases, the action is brought by the parents of the child, who claim that were it not for the negligence of the defendant the child would not have been born. Damages are, therefore, requested to pay for the special costs of raising and caring for this child, as well as for the emotional and physical suffering incurred by all. These cases have met with considerable success and have struck fear into the hearts of practitioners in obstetrics.
Therefore we would conclude that it is this fear of wrongful birth claims from unscreened women which actually drives the implementation of informed consent for MSAFP screening. This supposition is supported by the unusual practice, in California, of requring that patients not only sign a consent form when accepting testing but an informed refusal form if they reject testing. We have been told, in fact, that the California Medical Association said they would oppose the establishment of a state mandate to offer MSAFP testing unless informed refusal were made an integral part of the consent process.
Thus, informed consent for noninvasive prenatal screening such as MSAFP highlights the tension between the bioethical and legal interpretations of informed consent In an invasive prenatal procedure, such as amniocentesis, bioethical concerns can be seen as a different, but congruent, reason for requiring full information, since respecting the dignity and autonomy of the patient also protects the physician from potential damage claims. In noninvasive prenatal screening, however, uninformed test acceptance poses fewer legal risks than does informed refusal. In this case, providers respond through the institution of techniques that maximize consent over comprehension or careful contemplation.
But our research yielded another finding about the implementation of informed consent in this case. At least for the group of 150 pregnant women we studied, a majority of women are not dissatisfied with the meager amount of information they are given regarding MSAFP screening.
Thus, although our interviews with women revealed both to us and to them that the informed consent process had not worked to convey information about test procedures and the conditions being screened for, or to get women to consider ethical issues involved in screening, our subjects overwhelmingly professed satisfaction with the amount of MSAFP information they had been given. In addition, their responses were notably brief and stereotypical to all interview questions which concerned the moral aspects of prenatal diagnostic testing, their reasons for accepting the test, or what they might do following a hypothetical positive result. These sparse answers were in striking contrast to their willingniss to discuss odler, seemingly personal topics, at great length. In addition, we found that the words "abortion" or "pregnancy termination" were rarely uttered by a woman in answering our questions unless and until the interviewer used them. Overall, women tended to agree to MSAFP screening without having been encouraged to give it much thought and without seeming to feel a need to do so. When asked by us to think more about the test, they continued to frame MSAFP screening in exactly the terms it had been presented to them--as having to do with reassurance, as simply another part of responsible prenatal care. Some even suggested that they had taken the test because they wanted to "do everything [they] could to help [themselves] and the baby."
To Know or Not to Know
An underlying assumption of the consumers' rights and bioethical views of informed consent is that patients want to know more than they are usually told by their health care providers. But informed consent for MSAFP screening poses a new question: If women do not want to dwell on the ethical dimension of noninvasive prenatal screening, is there any reason why they should be asked to do so? That is, do patients have a right not to know equal to their fight to know, especially when there is no procedural risk from which they need to be protected? If patients do not have such a right, does it imply that in some cases informed consent needs to be based on a societally driven responsibility to be informed? On what moral or legal grounds could such a responsibility be based? Would such a responsibility be specifically relevant to the arena of prenatal testing?
Bioethicist David Ost does argues that there is such a responsibility to be informed, "to learn about oneself, one's possibilities, [and] one's potential fate."' He bases this claim on the logical entailments of the concept of autonomy, stating that an obligation to be informed is such an "ineluctable part of one's status as an autonomous agent," that to claim the right not to know as part of one's right of autonomy is internally contradictory. Christopher Meyers has expanded Ost's discussion. He is less interested in the abstract logic to which Ost appeals and more concerned with the burdens placed on others by the patient's hypothetical might not to know. These others include health care providers who would have additional pressures and anxieties placed on them by being made responsible for decisionmaking.
We would suggest two other obligations specific to prenatal testing. The first is a responsibility to one's social role as a potential parent. To request a right not to know or consider the implications of prenatal testing, is, in effect, to back away from participation in the crucial first stages of a decision about how one will fulfill--or choose not to fulfill--that parenting role. The second is an obligation to society because by the simple act of accepting or refusing a prenatal screening test for some condition, one helps to shape society's view of that condition and those who have it. The ongoing paradigm shift to universal, noninvasive screening has profoundly changed the arena of informed consent for prenatal testing, with implementation driven by the tacit legal jeopardy posed to health care providers by the failure to test. Meanwhile, discussion of informed consent for prenatal testing continues to take place under the rubric of patient autonomy, with no evidence of either its legal or moral relevance to the realities of how providers offer, and women make, decisions about noninvasive prenatal tests. The question posed by our discussion is how the next stage of inquiry about informed consent for prenatal testing can be reframed to address these realities. We would suggest that a consideration of the concept of patient and societal responsibility may be central to such a reframing. Specifically, what are the responsibilities involved in offering and in accepting prenatal testing? To whom are these responsibilities directed? Is there a responsibility to engage the moral or societal dimensions of medical decisions? If so, how might such a responsibility be implemented, especially when it runs counter to medicolegal priorities? And, finally, can we, as a society, continue to develop and offer tests the moral consequences of which we all seek to avoid?
[1.] DJ.H. Brock and R. G. Sutcliffe, "Alpha-Fetoprotein in the Antenatal Diagnosis of Anencephaly and Spina Bifida," Lancet 2 (1992): 197-99. [2.] D.J.H. Brock, A. E. Bolton, and J. M. Monaghan, "Prenatal Diagnosis of Anencephaly Through Maternal Serum Alpha-Fetoprotein Measurement," Lancet 2 (1973): 923-24. [3.] American College of Obstetricians and Gynecologists, "Professional Liability Implications of AFP Tests," DPL Alert, May 1985. [4.] Charles W. Lidz, Paul Appplebaum, and Alan Meisel, "Two Models of Implementing Informed Consent," Archives of Internal Medicine 148 (1988): 1385-89, at 1386. [5.] Lidz, Applebaum, and Meisel, "Two Models," p. 1385. [6.] Ruth R. Faden, Judith A. Chwalow, Engin Orel-Crosby et al., "What Participants Understand about a Maternal Serum Alpha-Fetoprotein Screening Program," American Journal of Public Health 75, no. 12 (1985): 1381-84; George J. Annas, "Problems of Informed Consent and Confidentiality in Genetic Counseling," in Genetics and the Law, ed. Aubrey Milunsky and George J. Annas (New York: Plenum Press, 1976). [7.] David Ost, "The `Right' Not to Know," Journal of Medicine and Philosophy 9, no. 3 (1984): 301-12. [8.] Christopher Meyers, Freedom, Autonomy and Responsibility: An Analysis of Autonomy in Applied Settings. Ph.D. dissertation, Department of Philosophy, University of Tennessee, Knoxville, 1986.
Nancy Press is an amount research anthropologist, and C H. Browner is a professor in the Department of Psychiatry and Biobehavioral Sciences, UCLA School of Medicine Los Angeles, Calif.
Nancy Press and C. H. Browner, "Risk, Autonomy, and Responsibility: Informed Consent for Prenatal Testing," Special Supplement, Hastings Center Report 25, no. 3 (1995): S9-S12.
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|Title Annotation:||Public Priorities for Genetic Services; Special Supplement|
|Author:||Press, Nancy; Browner, C.H.|
|Publication:||The Hastings Center Report|
|Date:||May 1, 1995|
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