Informed consent and prenatal genetic testing

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299245275_ee59c8953f_m.jpgThe most common prenatal genetic screening tests are amniocentesis, chorionic villi sampling, and the maternal triple screen, the last of which is performed in "most, if not all, pregnancies" (Ackmann 201). Though this test is not mandatory, a "relatively small percentage" of pregnant women refuse it (Rothschild 203). In fact, not all women know they have a right to say "no" (Rothschild 197). But perhaps this high testing rate is not so surprising. In a technology-driven society, one habitually chooses more information over less, especially in situations as important as pregnancy. It may even be read as irresponsible not to. When interviewed about their decision to undergo amniocentesis, women often express sentiments like this woman's: "It's a feeling that...I have done all I can do that is medically feasible and advisable, at my age, to ensure that any baby I have will be fine" (Rothman 59). In some cases it is less about personal reassurance and more about presenting oneself as a "responsible pregnant woman" who is behaving as expected. One woman admits: "I went along with it because I wanted to be labeled okay (and sensible) for a home birth" (Rothman 52). Prenatal genetic testing has become an expected part of prenatal care, in the same vein as ultrasounds.

Health care providers have been shown in several studies to contribute to the "routinization" and "expectedness" of prenatal genetic testing (see Green, et al.). Faced with an "increased threat of wrongful birth and wrongful life lawsuits," some doctors may push these maternal blood tests on "reticent or resistant patients, in order to 'cover' themselves in the event of a malpractice action" (Chachkin 50). Concern over malpractice allegations leads to physicians overprescribing testing. But testing itself, and the interpretation of test results, brings its own set of complications, as in the case of Breyne v. Potter in which a woman aborted her pregnancy based on her physician's report that the fetus had Down's Syndrome. The fetus actually had trisomy-X, and in appeals court the woman won on medical malpractice (but not wrongful death). Still, in a country as litigious as the United States, doctors want to appear as if they did everything possible to predict the birth of a seriously ill baby. Genetic testing is supposed to be guided by informed consent. If it is increasingly routinized, and if health care providers benefit from unquestioning acceptance, how likely is it that true informed consent will be a priority?

Informed consent is necessary for autonomy. A person receiving a medical procedure in the absence of informed consent is not having her rights respected. Yet there is "incontrovertible evidence that women are not making free informed choices about prenatal screening" (Seavilleklein 69). In a 1996 study, when a thousand women were surveyed just before maternal serum screening, almost half said they had not discussed the procedure with their health care provider (Seavilleklein 70). Another study reported a "discussion time of approximately two minutes" with women about the screening even though "[d]escribing the details of the conditions screened for alone will take several minutes" (Seavilleklein 70). Even when consent is obtained, research casts doubt upon what degree of choice women are allowed to exercise. Even well-meaning providers use language like "screening as a way to 'make sure your baby is healthy" which can "imply that testing is meant to ensure health rather than to detect certain conditions" (Seavilleklein 74). Researchers Nancy Press and Carol Browner found that physicians often talk about the maternal triple screen as a "simple blood test" to show "how your baby is developing," which, though possibly misleading, is at least accurate information. But their research also showed a disconcerting pattern in which physicians often hounded non-consenting women until they consented (Andrews 990). Interviews by Lori Andrews of physicians who had conducted prenatal genetic testing on women's blood without their consent reveal an attitude of paternalism and disrespect toward pregnant women's right to informed consent. The reasons they most often gave for not seeking consent were that the women "wouldn't understand" the test, and that anyway they were doing it for the women's benefit (Andrews 1003). Neither of these obviates the need for informed consent.

In its most accepted definition, informed consent consists of these five components: "(1) competence, (2) disclosure, (3) understanding, (4) voluntariness, and (5) consent" (Beauchamp and Childress 79). A 2004 study by J.M. Green et al. looked at 78 studies of prenatal screening and found an overwhelming inadequacy in achievement of informed consent, with providers consistently failing to meet criteria 2-5 (Seavilleklein 69-70). The ethical issues with non-consensual maternal triple screen tests are, admittedly, harder to visualize than the traditional conceptions of "forced medical procedures." Blood is drawn for many reasons during medical care, and genetic tests are just part of a larger suite of tests run on maternal blood samples. If asked, without context, "Do you approve of genetic tests run on Americans without their knowledge?" most Americans would respond with an emphatic "no." Genetic information is considered (and protected as) intensely private, personal information. Why should the answer be different when the question concerns pregnant women?

I am not trying to paint the picture of a vast conspiracy aimed at collecting genetic information to use in wicked ways. Clearly the situation is more nuanced. Health care providers are overworked, and many pregnant women are eager for as much medical information as they can get. Still, the fact remains that some pregnant women are undergoing genetic testing without their knowledge, some without their consent, and this sets pregnant women apart as a separate class not awarded the same privileges as those outside the class. Even though tests like fetal cell sorting are looking at the genetics of the fetus and not the woman, the woman may learn genetic information about herself and her partner as a result. Most bioethicists support a "right not to know" genetic information about oneself, so testing a woman's fetus without her informed consent is ethically troublesome. For example, Lori Andrews interviewed women learning their carrier status for Fragile X and found it altered their view of self: "Some feel that they have 'failed' in the role for which society most values them - producing healthy sons" (Andrews 975). Though no states have mandatory prenatal genetic testing, advances in non-invasive techniques like fetal cell sorting would make it at least logistically possible to institute population screening. This would certainly be an equal rights issue as it would single out one class of people. It would violate equal rights for the father, too, though "diagnosis of the fetus more often provides information about the mother than about the father" (Andrews 995). There would be many legal arguments in favor of pregnant women refusing testing, whether for diagnostic or screening purposes: informational privacy, Fourth Amendment protection against unnecessary search and seizure, protection of bodily integrity, and protection of reproductive autonomy and decisions about child-rearing (Andrews 996-9).

Pregnant women "are in fact the largest consumers of genetic services owing to their encounters with prenatal testing" (Markens 102). Is the prevalence of prenatal genetic screening driven by women's demand or by a litigious and medicalized culture? Carine Vassy reminds us not to conflate correlation and causality: Since "the number of women being screened increases when informed consent is not a priority," it can be argued that institutions "involved in the screening receive the false impression that women want the testing and therefore invest more resources into expanding the services" (Seavilleklein 72). No matter the driving force, the fact is that "[c]hild-bearing women are becoming 'moral pioneers' as the increasing routinization of prenatal screening places them on the front lines of genetic decision making" (Markens 103). Thus, it is important that these women are given the information they need to make the decisions being asked of them.

As is to be expected, studies have shown that negligence in informed consent practices has led to widespread misconceptions among pregnant women about what prenatal genetic testing can and cannot do. In Markens's study of pregnant women, "51 percent agreed with the statement 'Prenatal testing makes your pregnancy at less risk' and 37 percent believed or were unsure of whether there was a cure for the conditions amniocentesis detects" (Markens 114).

Even when informed consent is followed, a woman's refusal of testing can alter her relationship with her physician. Lori Andrews found that health care professionals "are more likely to blame women for the birth of children with genetic conditions if the women refuse prenatal genetic testing" (Andrews 982). Even more concerning, Marteau and Drake observed that physicians may not help women and their newborns as much postnatally if they refuse prenatal testing, because "the outcome, giving birth to a child with a condition for which prenatal screening is available, is seen as preventable" (Marteau and Drake 1130).

Research like this is a good reminder that having more options is not equal to having more autonomy. The simple availability of prenatal genetic tests complicates concepts of autonomy by adding more options. It can even "undermine autonomy by making choices 'unproductively difficult' or by making certain 'choices' irresistible" (McLeod ii). A lot depends on how the choices are presented by physicians and genetic counselors and what the values of the pregnant woman are. Ruth Hubbard notes that "[a]s choices become available, they all too rapidly become compulsions to 'choose' the socially endorsed alternative" (Seavilleklein 73). The way prenatal testing is currently carried out "seem[s] to rely on an assumption that providing genetic information to women during pregnancy is an unquestionable benefit" (Andrews 973). Health care providers seem to acknowledge that difficult decisions arise in the case of positive test results, but show less awareness that being tested can in itself be a difficult decision. Rothman notes that there "may be moral (and immoral) decisions to be made, but whether or not to enter into the decision-making process itself is not widely recognized as a moral dilemma" (Rothman 83).

One must also look at the choices that are not being offered to pregnant women in the United States. Our system of health care and health insurance means things like a long hospital stay are not available to most women, so they may latch onto places where choice is available, like prenatal testing. Once testing is done, if it is positive for a serious condition, the main choice being considered is whether or not to terminate the pregnancy. It is important to note that the choices not being offered in this situation usually include affordable childcare, gender-equal pay, and a "societal commitment to support children with disabilities" (Seavilleklein 76). If these kinds of supports were in place, would women make different decisions?


Sources
  • Ackmann, Elizabeth A. "Prenatal Testing Gone Awry: The Birth of a Conflict of Ethics and Liability." Indiana Health Law Review 2 (2005): 199-224.
  • Amniocentesis. Photo from 4-6 on Flickr. Creative Commons license.
  • Andrews, Lori. "Prenatal Screening and the Culture of Motherhood." Hastings Law Journal 47 (1996): 967-1006.
  • Beauchamp, Tom L. and James F. Childress. Principles of Biomedical Ethics. 5th ed. New York: Oxford University Press U.S., 2001.
  • Breyne v. Potter, 574 S.E. 2d 916 (Ga. Ct. App. 2002).
  • Chachkin, Carolyn J. "What Potent Blood: Non-Invasive Prenatal Genetic Diagnosis and the Transformation of Modern Prenatal Care." American Journal of Law and Medicine 33.9 (2007): 9-53.
  • Markens, Susan. "Invisible Women: Gender, Genetics, and Reproduction." The Double-Edged Helix: Social Implications of Genetics in a Diverse Society. Ed. Joseph Alper et al. Baltimore: The Johns Hopkins University Press, 2002. 102-121.
  • Marteau, Theresa and Harriet Drake. "Attribution for Disability: The Influence of Genetic Screening." Social Science and Medicine 40 (1995): 1127-1132.
  • McLeod, Carolyn. "Rich Discussion About Reproductive Autonomy." Bioethics 23.1 (2009): ii-iii.
  • Rothman, Barbara K. The Tentative Pregnancy: How Amniocentesis Changes the Experience of Motherhood. New York: W.W. Norton, 1993.
  • Rothschild, Joan. The Dream of the Perfect Child. Bloomington, IN: Indiana University Press, 2005.
  • Seavilleklein, Victoria. "Challenging the Rhetoric of Choice in Prenatal Screening." Bioethics 23.1 (2009): 68-77.


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