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The Routinization of Prenatal Testing

Published online by Cambridge University Press:  24 February 2021

Sonia Mateu Suter
Sonia Mateu Suter*
Affiliation:
George Washington University Law School. Michigan State University; Human Genetics, University of Michigan
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Extract

By now everyone is familiar with the recent accomplishments of the Human Genome Project. Accomplished in ten, rather than the initially expected fifteen, years, the human genome has been fully sequenced. Genetics is in its golden age. A product of the technology era, genetics has, in a short time, offered vast amounts of information. This increased knowledge promises potential benefits for our understanding of the disease process and, ultimately, treatment and prevention. The rapid flow of information, however, presents complications and challenges. It can complicate the decision making process for those involved in genetic testing, not only because our knowledge of genetics is more complex, but because there is so much more potential information to obtain. The sheer quantity of information for both researcher, clinician and especially patient, can be overwhelming. In addition, our ability to glean predictive or susceptibility information has vastly exceeded our ability to develop cures for diseases; patients can increasingly identify risks for conditions that they can do little to avoid.

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Articles
Information
American Journal of Law & Medicine , Volume 28 , Issue 2-3: The Genetics Revolution: Conflicts, Challenges and Conundra , 2002 , pp. 233 - 270
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Copyright © American Society of Law, Medicine and Ethics and Boston University 2002

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References

1 Surprising and unexpected negative emotional reactions have occurred in people who expected to have a late-onset gene and found out they did not. See infra text accompanying note 28.

2 Much of my discussion of the routinization of prenatal testing could apply to ultrasounds or sonograms. Given that this symposium focuses on genetics issues, this Article concentrates primarily on prenatalgenetic testing and screening.

3 Assessing Genetic Risks: Implications for Health and Social Policy 30-31 (Lori B.Andrews et al. eds., 1994) [hereinafter Assessing Genetic Risks].

4 Dorothy Nelkin & M. Susan Lindee, the Dna Mystique: the Gene as Cultural Icon 19-37(1995).

5 Porter, Ian H., Evolution of Genetic Counseling in America, in Genetic Counseling 17, 23 (Herbert A. Lubs & Felix de la Cruz eds., 1977)Google Scholar.

6 For example, to promote the eugenic ideal, the American Eugenics Society sponsored nationwide “mental and physical perfection contests” to find the fittest baby or family. Nelkin & Lindee, supra note 4, at 27.

7 Lombardo, Paul, Medicine, Eugenics, and the Supreme Court: From Coercive Sterilization to Reproductive Freedom, 13 Contemp. Health L. & Pol'y 1, 5 (1996)Google Scholar. In addition, in 1924, Congress enacted the Federal Immigration Restriction Act “to combat 'the rising tide of defective germ-plasm' carried by suspect groups migrating from Southern and Eastern Europe.” Id.

8 274 U.S. 200 (1927).

9 Id. at 207. Paul Lombardo has pointed out thatBuck has not been formally overturned. Moreover, it has provided a subtle strand in reproductive rights cases, includingRoe v. Wade. Lombardo, supra note 7, at 19.

10 Daniel J. Kevles, In the Name of Eugenics 205-06 (1995).

11 Assessing Genetic Risks, supra note 3, at 63.

12 Id. at 63-64.

13 Carrier testing identifies individuals who carry single copies of deleterious recessive genes and are at an increased risk of having an affected child. If two carriers have a child there is a 25% chance the child will inherit two copies of the gene or be affected by it. Couples who are carriers for the same disease gene may choose to accept the risk of having an affected child, may adopt or may use prenatal diagnosis to determine if the fetus carries two copies of the disease gene. Thus, carrier screening is related to reproductive decision making.

Although we all carry several recessive disease genes, some are more common in certain ethnic and racial groups. For example, 1/25 of Caucasians (particularly those of Northern European descent) carries the gene for cystic fibrosis, 1/12 of African Americans carries the gene for sickle-cell anemia and 1/30 of Jews of Askenazi descent carries the Tay Sachs gene. Asian, Mediterranean and Middle Eastern populations are at varyingly increased risks of carrying the gene for thalassemia. Id. at 70-71.

14 Id. at 75. With every passing year, a woman's chance of having a child with a chromosomal abnormality increases. In the mid-1980s, the American College of Gynecologists and Obstetricians issued a policy statement describing the offer of prenatal diagnosis to women of advanced maternal age as part of the standard of care. Id.

15 Id. at 76.

16 Id. (describing timing between fourteen and sixteen weeks gestation); Jane E. Brody, Experts Explore Safer Tests for Down Syndrome, N.Y. Times, Jan. 23, 2001, at F6 (describing timing between sixteen and eighteen weeks gestation).

17 Assessing Genetic Risks, supra note 3, at 76-77.

18 Id.

19 See Rachel Nowak, Genetic Testing Set for Takeoff, 265 Science 464, 464 (1994) (noting that prenatal testing became “a medical boom industry” in the 1980s).

20 Charles S. Bosk, All God's Mistakes: Genetic Counseling in A Pediatric Hospital 156-57 (1992); Beth A. Fine, The Evolution of Nondirectiveness in Genetic Counseling and Implications of the Human Genome Project, in Prescribing Our Future: Ethical Challenges in Genetic Counseling 101, 105-06 (Dianne M. Bartels et al. eds., 1993).

21 See generally Seymour Kessler, The Psychological Paradigm Shift in Genetic Counseling, 27 SOC. Biology 167, 168, 182 (1980) (discussing the shift from the eugenics paradigm, which focused on managing human heredity, to the current paradigm of psychologic medicine, which focuses on helping patients resolve problems and make decisions).

22 Various forces have contributed to genetic counselors' commitment to nondirectiveness, including an attempt to distance themselves from eugenics; the bioethics movement, with its commitment to autonomy; and the women's movement, with its support of reproductive liberty. See Sonia M. Suter, A Fresh Look at Nondirectiveness in Genetic Counseling (Jan. 1, 2000) (unpublished manuscript, on file with author).

23 See, e.g., Barbara Bowles Biesecker, Future Directions in Genetic Counseling: Practical and Ethical Considerations, 8 Kennedy Inst. Ethics J. 145 (1998). How successful nondirectiveness is at achieving that goal is a question in some dispute. Several commentators argue either that nondirectiveness is not achievable, seeinfra note 72, or that counselors are not really neutral about the choices patients make, see notes 67-68 and accompanying text. An even larger issue is whether neutrality is the proper way to promote these goals, something I seriously doubt, though a topic beyond the scope of this Article.

24 Until then, the vast majority of genes that express in adulthood (late-onset genes) had not yet been identified. See infra text accompanying note 25.

25 See, e.g., infra notes 26 and 37.

26 Marlene Huggins et al., Ethical and Legal Dilemmas Arising During Predictive Testing for Adult-Onset Disease: The Experience of Huntington's Disease, 47 Am. J. Hum. Genet. 4, 4 (1990). HD is an autosomal dominant neuropsychiatric condition that typically manifests in mid-life. Its symptoms include “chorea, cognitive impairment, and affective disturbance.” Id. Before the actual gene was identified, researchers found markers linked to the HD gene in 1984. Virginia Morell, Huntington's Gene Finally Found, 260 Science 28, 28 (1993). Analysis of the presence and absence of markers in affected and non-affected family members could be used to determine whether people with family histories of HD were very likely to carry the gene. Linkage studies, by nature, may not be precise and require analysis of DNA from multiple family members. Virginia Morell, Gene Discovery Points to Better HD Test, 260 Science 29, 29 (1993). The identification of the actual HD gene in 1993 allowed for more direct and accurate testing—it no longer required involvement of other family members. Id.

27 “Before linkage studies were available, 70% of people at risk for Huntington's stated they would use predictive testing. Yet, once the test was available, only 13% took advantage of it.” Sonia M. Suter, Whose Genes Are These Anyway? Familial Conflicts Over Access to Genetic Informational Mich. L. Rev. 1854, 1866 n.71 (1993).

28 See, e.g., Marlene Huggins et al., Predictive Testing for Huntington's Disease in Canada: Adverse Effects and Unexpected Results in Those Receiving a Decreased Risk, 42 Am. J. Med. Gen. 508 (1992).

29 Hersch, Steven et al., The Neurogenetics Genie: Testing for the Huntington's Disease Mutation, 44 Neurology 1369, 1370 (1994)CrossRefGoogle Scholar. So concerned are many patients about this risk that they either will get testing anonymously or will choose to pay in cash to avoid having to notify insurers of the findings. Anne Chalfant, Genetic Testing: What Does it Mean for Nurses?, Nurseweek, Aug. 3, 1998, at http://www.nurseweek.com/features/98-8/genes.html.

30 See, e.g., Hersch, Steven et al., supra note 29Google Scholar; Int'l. Huntington's Ass'n & World Fed'n of Neurology Research Group on Huntington's Chorea, Guidelines for the Molecular Genetics Predictive Test in Huntington's Disease, 44 Neurology 1533 (1994) [hereinafter Guidelines].

31 Guidelines, supra note 30, at 1533.

32 Id. at 1534 (Guideline 3).

33 Id. at 1535 (Guideline 6.2). Some centers will not offer HD testing to patients who are clinically depressed.

34 Hersch et al., supra note 29, at 1371-72. See also Guidelines, supra note 30, at 1534-35 (guidelines 5.1.1, 5.2.1, 5.2.2, 5.2.3).

35 Guidelines, supra note 30, at 1534 (Guideline 5.1.1).

36 Hersch et al., supra note 29, at 1371.

37 The BRCA1 gene was isolated at the end of 1994 and the BRCA2 gene at the end of 1995. Gina Kolata, Scientists Speedily Locate a Gene that Causes Breast Cancer; Better Screening Is Seen, N.Y. Times, Dec. 21, 1995 at A15. Studies suggest that the cumulative risk of breast cancer by age seventy in BRCA1 carriers ranges from 35-87%. Cumulative risks for ovarian cancer by age seventy in BRCA1 or BRCA2 carriers range from 16-44%. Robert J. Pokorski & Ulrike Ohlmer, Use of Markov Model to Estimate Long-Term Insured Lives' Mortality Risk Associated with BRCA1 and BRCA1 Mutations, 4 N. Am. Actuarial J. 130, 131 (2001).

38 See, e.g., Gail Gelleret al., Consensus Statement: Genetic Testing for Susceptibility to Adult-Onset Cancer: The Process and Content of Informed Consent, 277 Jama 1467, 1470-72 (1997).

39 Id. at 1471.

40 ° Id.

41 Id. at 1472. The consensus statement acknowledges how difficult it is to determine the precise risk of discrimination and also to document it. It mentions that while existing legislation may protect against some forms of discrimination, it does not cover all individuals and has not been assessed for effectiveness. Id. (discussing the Health Insurance Portability and Accountability Act of 1996, which prohibits the denial of insurance for preexisting conditions, and the Americans with Disabilities Act of 1990, which prohibits employment discrimination against those with a disability, with a record of a disability or who are perceived as disabled).

42 Cotton, Paul, Prognosis, Diagnosis, or Who Knows? Time to Learn What Gene Tests Mean, 273 Jama 93, 95 (1995)CrossRefGoogle ScholarPubMed; see also Nowak, supra note 19, at 464 (quoting Francis Collins: “Genetic testing should be considered in the same way as a new drug. It can have efficacy, and it can have toxicity.”)

43 See generally Michael J. Malinowski & Robin J.R. Blatt, The Commercialization of Genetic Testing Services: The FDA, Market Forces, and Biological Tarot Cards, 71 Tul. L. Rev. 1211 (1997).

44 See Nowak, supra note 19, at 464 (discussing the usefulness of test results for a patient with an incurable disease and the effect that a positive result in this situation has on the patient). Another concern has been the lack of quality controls for such testing. Published accounts of testing errors describe the kind of damage such errors can cause. Nancy Seeger, for example, who had a family history of breast cancer, decided to undergo genetic testing. The laboratory report indicated that she had one of the breast cancer genes, presenting “a lifetime risk of breast cancer 'as high as 85 percent'” and a lifetime risk for ovarian cancer of 50%. The report assured her that the results had been “confirmed independently.” After undergoing prophylactic surgery to remove her ovaries (no reliable screening is available for ovarian cancer) and while contemplating bilateral breast removal, however, she received shocking news. She did not, in fact, have the mutation. Anne Underwood, When “Knowledge” Does Damage, Newsweek, Apr. 10, 2000, at 62. Although laboratory error is possible with any laboratory test, the lack of quality controls in late-onset genetic testing heightens concerns about just this sort of scenario.

45 See Assessing Genetic Risks, supra note 3, at 79-80, 83.

46 In 1991, for example, an NIH Workshop on Reproductive Genetic Testing noted that, in addition to providing benefits, prenatal testing has the “potential to increase anxiety; place excessive responsibility, blame, and guilt on a woman for her pregnancy outcome; interfere with matemal-infant bonding; and disrupt relationships between a woman, family members and her community.” Assessing Genetic Risks, supra note 3, at 83 (citing Nat'l Inst, of Health Workshop on Reprod. Genetic Testing. Reproductive Genetic Testing: Impact on Women. Bethesda, MD, Nov., 1991). Ultimately, however, the participants recommended merely that “standards of care for reproductive genetic services should emphasize genetic information, education and counseling rather than testing procedures alone.” Id. at 84. Similarly, the American Society of Human Genetics (ASHG) issued a policy statement in 1987 regarding maternal serum alpha-fetoprotein (MSAFP), a form of prenatal screening. See infra text accompanying notes 117-118 (describing the use and indications of MSAFP screening). It recommended that “[counseling for MSAFP screening] should be nondirective and should begin early in pregnancy so that [the patient's] decision is informed and unhurried.” Am. Soc'y of Hum. Genetics, American Society of Human Genetics Policy Statement for Maternal Serum Alpha-Fetoprotein Screening Programs and Quality Control of Laboratories Performing Maternal Serum and Amniotic Fluid Alpha-Fetoprotein Assays, 40 Am. J. Hum. Genet. 75 (1987), available at http://www.faseb.org/genetics/ashg/policy/pol-01.htm (last visited Apr. 30, 2002). It also urged that patients be “fully informed about the procedure and its implications,” though it did not elaborate on what patients should be told. Id. Similarly, the Code of Ethics adopted by the National Society of Genetic Counselors urges genetic counselors to “strive to [e]nable their clients to make informed independent decisions, free of coercion, by providing or illuminating the necessary facts and clarifying the alternatives and anticipated consequences,” though it does not specify what those “anticipated consequences” are. Cara Dunne & Catherine Warren, Lethal Autonomy: The Malfunction of the Informed Consent Mechanism within the Context of Prenatal Diagnosis of Genetic Variants, 14 Issues L. & Med. 165, 190 (1998) (citing Nat'l Soc'y of Genetic Counselors, A Voice, a Resource and an Educational Environment for the Genetic Counseling Profession, 1991, distributed at the 1997 Annual Genetics Conference, in Baltimore, MD, American Society of Genetics Counselors (on file with Cara Dunne)). Perhaps the group that comes closest to advocating a counseling process that resembles the recommendations for late-onset testing is the Committee on Assessing Genetic Risks. It recommends that informed consent for reproductive testing include, among other things, “consideration of all possible outcomes, including the possibility that one option might be termination of the pregnancy; [and] . . . knowledge of the potential need for and availability of psychosocial counseling.” Assessing Genetic Risks, supra note 3, at 104. The committee does not, however, explicitly advocate that counseling include a discussion of the nature of psychosocial effects that may result from prenatal testing or screening.

47 The guidelines for HD testing discourage prenatal HD testing unless the couple would terminate, stating that “[t]he couple requesting antenatal testing must be clearly informed that if they intend to complete the pregnancy if the fetus is a carrier of the gene defect, there is no valid reason for performing the test.” Guidelines, supra note 30, at 1535 (Guideline 7.2). This recommendation expresses a level of directiveness that would rarely be seen in prenatal genetic counseling. The appropriateness of prenatal testing for late-onset conditions, such as HD and inherited forms of breast cancer, is a complex and controversial subject beyond the scope of this Article.

48 As above, the same claim could be made with respect to prenatal sonograms. See supra note 2.

49 Barbara Katz Rothman, The Tentative Pregnancy: How Amniocentesis Changes the Experience of Motherhood 16 (1986) (“Like maternity blazers, prenatal diagnosis is a hallmark of the professional woman's pregnancy.”).

50 The Girlfriend's Guide to Pregnancy, for example, states quite matter-of-factly that “[i]f you are age thirty-five or older, you will probably have a genetic test that actually samples some of the pregnancy matter or the amniotic fluid.” Vicki Iovine, The Girlfriend's Guide to Pregnancy : Or Everything Your Doctor Won't Tell You 59 (1995). What to Expect When You're Expecting notes that prenatal diagnosis is generally recommended for women with specific characteristics, including being over age thirty-five, although it is more attentive to some of the complexities involved, recognizing that because “of inherent risks, small as they are, prenatal diagnosis isn't for everyone.” Arlene Eisenberg Et Al., What to Expect When You're Expecting 42 (2d ed. 1996). This may be the most widely-read book on pregnancy. It is self-described as “America's Pregnancy Bestseller” and has sold over nine million copies. Id.

51 Rothman, supra note 49, at 16.

52 Id. at 45, 51 -52 (For many patients, amniocentesis is already an “expected, accepted” part of the pregnancy experience.).

53 Id. at 63, 67.

54 How many of these questions were inspired by my former career as a genetic counselor, I cannot say. But I know that many asked me this question without full awareness of my professional past. Many seemed to raise the question merely because I was a pregnant woman over thirty-five.

55 Kessler, supra note 21, at 176; Suter, supra note 22.

56 Biesecker, supra note 23, at 145. See generally Sonia M. Suter, Value Neutrality and Nondirectiveness: Comments on “Future Directions in Genetic Counseling", 8 Kennedy Inst. Ethics J. 161 (1998).

57 See infra notes 67-68.

58 Suter, supra note 22.

59 Id.; Rothman, supra note 49, at 46 (noting that genetic counselors try to control the decision making process, even though they try not to control the decision itself).

60 Rothman, supra note 49, at 46 (questioning whether one can influence the decision making process without also influencing the decision itself).

61 A situation in which a couple repeatedly requested that genetic counselors decide whether they should have prenatal testing for muscular dystrophy illustrates this perspective nicely. The counselors believed the couple's behavior demonstrated their fear of accepting “responsibility for their actions” and was an attempt to place the responsibility with the genetic counselors. Eleanor Gordon Appelbaum & Stephen K. Firestein, A Genetic Counseling Casebook 78-79 (1983). They defended their refusal to decide for the patient by arguing that “no one has the right to make decisions which will affect the lives and feelings of other people.” Id. Ironically, the genetic counselors supported the couple's decision to follow the advice of the rabbi. In essence, they supported the couple's refusal to decide as long as they themselves were not the one's who decided for the couple.

62 See Michael J. Malinowski, Coming Into Being: Law, Ethics, and the Practice of Prenatal Genetic Screening, 45 Hastings L.J. 1435, 1460 (1994).

63 This part of the counseling session can often resemble a mini-biology class with numerous diagrams illustrating meiosis (cell division that results in the final egg and sperm cells), chromosomes, nondisjunction (the error in meiosis that can result in the fetus having too many or too few chromosomes) and, when applicable, patterns of inheritance to illustrate the risk to the pregnancy of a particular inherited disease.

64 See supra text accompanying notes 16-18.

65 See Gwen Anderson, Nondirectiveness in Prenatal Genetics: Patients Read Between the Lines, 6 Nursing Ethics 126, 129 (1999) (“In genetics, clinicians and researchers believe that knowledge and genetic science are moral goods.”).

66 Even when counselors try not to express views, patients tend to read between the lines, often interpreting the counselor's reticence in surprising ways. See Susan Michie et al., Nondirectiveness in Genetic Counseling: An Empirical Study, 60 Am. J. Hum. Gen. 40 (1997) (observing that patients often felt “steered by the counselor,” regardless of the rated level of directiveness of the counselor).

67 Bosk, supra note 20, at 153; Angus Clarke, Is Non-Directive Genetic Counselling Possible?, 338 Lancet 998, 998-1000 (1991) (noting a “tendency for molecular genetic and other fetal diagnostic tests to be adopted as a matter of course once they become technologically feasible,” and contending that the “offer of prenatal testing implies a recommendation to accept that offer”).

68 Clarke, supra note 67, at 1000 (“I contend that an offer of prenatal diagnosis implies a recommendation to accept that offer, which in turn entails a tacit recommendation to terminate a pregnancy if it is found to show any abnormality.”).

69 Appelbaum & Firestein, supra note 61, at 8 (stating that the counselor cannot know what the “best” decision is for the expectant couple and their family); Patricia T., Dealing With Dilemma: A Handbook for Genetic Counselors 102, 104 (1997) (Despite the counselor's expertise about genetic matters, “it would be a mistake to conclude that they also know what a 'better' or 'right' decision would be for a particular family. . . . There is no one standard for judging . . . the correctness of a decision.”). See also Bosk, supra note 20, at 84 (In defense of nondirectiveness, one genetic counselor asked rhetorically, “how would anyone of us know how we would respond?”).

70 See Anderson, supra note 65, at 128 (observing that “scientists, healthcare professionals and society believe .. . as a source of knowledge for preventing or curing disease, genetic technology is morally good”), 129-30 (noting that genetic professionals believe genetic testing leads to an increased quality of life for fetuses, other siblings, parents and society). A study in 1973 found that 85% of genetic counselors, most of whom were physicians, believed that genetic counseling should achieve disease prevention. Rothman, supra note 49, at 41 (citing James R. Sorenson, Counselors: A Self Portrait, in Genetic Counseling VOL. 1, NO.5 (1973)).

71 “Most of the counselors [Rothman interviewed] would have [amniocentesis] themselves. More than half would have, or want their daughters to have, an amniocentesis even at 25, a Mow risk age.' . . . Most would have abortions for most abnormalities, half said they would abort forany abnormality.” Rothman, supra note 49, at 46.

72 A number of commentators have questioned the ability to achieve neutrality in the counseling process, particularly when the counselors have personal biases. See, e.g., Karen G. Gervais, Objectivity, Value Neutrality, and Nondirectiveness, in Genetic Counseling, in Prescribing Our Future: Ethical Challenges in Genetic Counseling 119, 127 (Dianne M. Bartels et al. eds., 1993) (questioning the “concept of objectivity and the fact/value distinction” on which the normative modeling in genetic counseling is based); Dunne & Warren, supra note 46, at 188-89, 193 (1998) (describing the ways that counselors can be directive by failing to include information about “the human aspects of illness” associated with conditions for which prenatal testing was offered); Dorothy C. Wertz & John C. Fletcher, Attitudes of Genetic Counselors: A Multinational Survey, 42 Am. J. Hum. Genetics 592, 600 (1988) (expressing skepticism that counselors can always neutrally support any decision that the patient makes given the moral convictions that geneticists have).

73 See Rothman, supra note 49, at 81 (noting that preparation and reassurance are the “bases on which amniocentesis is urged on women who are quite sure that they will not abort”).

74 I have heard this justification from obstetricians countless times when discussing prenatal testing. See infra note 172.

75 Assessing Genetic Risks, supra note 3, at 168.

76 <sId.

77 See Deborah F. Pencarinha, Ethical Issues in Genetic Counseling: A Comparison of M.S. Counselor and Medical Geneticist Perspectives, 1 J. Gen. Counseling 19 (1992).

78 Because the commitment to autonomy (reflected in the norm of nondirectiveness) is greater in genetics than any other discipline, seeinfra text accompanying note 178, it is not surprising that physicians who were not trained in genetics would be more directive than non-geneticist physicians.

79 Rothman, supra note 49, at 82. See also Anderson, supra note 65, at 129 (describing “the moral imperative to know” among healthcare providers).

80 Rothman, supra note 49, at 63; see also Anderson, supra note 65, at 129-30 (observing the medical profession's view that genetic testing will further the well-being of fetus, siblings, parents and society).

81 Elizabeth B. Cooper, Testing for Genetic Traits: The Need for a New Legal Doctrine of Informed Consent, 58 Md. L. Rev. 346, 360 (1999).

82 See supra text accompanying note 49.

83 Anderson, supra note 65, at 129 (noting the public's acceptance of the “moral imperative to know”).

84 See, e.g., Rothman, supra note 49, at 59 (reporting one woman's reasons: “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.”).

85 Nancy Anne Press & Carole H. Browner, Collective Silences. Collective Fictions, in Women and Prenatal Testing: Facing the Challenges of Genetic Technology 201, 213 (Karen H. Rothenberg & Elizabeth J. Thomson eds., 1994).

86 Id. at 213.

87 Iovine, supra note 50, at 86.

88 Id. at 90.

89 Glade B. Curtis & Judith Schuler, Your Pregnancy Week by Week 163 (4th ed. 2000).

90 Helena Michie & Naomi R. Cahn, Confinements: Fertility and Infertility in Contemporary Culture 84 (1997). See also Curtis & Schuler, supra note 89, at 163-64.

91 Eisenberg Et Al., supra note 50, at 50.

92 Michie & Cahn, supra note 90, at 84.

93 Lori B. Andrews, Prenatal Screening and the Culture of Motherhood, 47 Hastings L.J. 967, 981 (1996) (citing Donna G. Olsen, Parental Adjustment to a Child with Genetic Disease: One Parent's Reflections, 23 J. Obstetric Gynecologic Neonatal Nursing 516, 516 (1994)). In addition, some women experience guilt simply for having passed on the genetic condition to their child. Id. at 980-81.

94 Ma t 981-82.

95 Id. at 982.

96 Id. at990n.H7 .

97 People may seek knowledge simply because uncertainty makes them uneasy. Not knowing may make an individual feel more out of control than knowing, even if knowledge may potentially bring bad news.

98 See J. M. Green, Claiming or Harming? A Critical Review of Psychological Effects of Fetal Diagnosis on Pregnant Women, Galton Institute Occasional Papers, Second Series, No. 2; Theresa Marteau et al., The Impact of Prenatal Screening and Diagnostic Testing upon the Cognitions, Emotions and Behaviour of Pregnant Women, 33 J. Psychosomatic Research 7 (1989). For a discussion of the variations in women's perception of the amniocentesis experience see Caroline C. Nielsen, An Encounter with Modern Medical Technology: Women's Experiences with Amniocentesis, 6 Women & Health 109 (1981). Not surprisingly, the pregnancy books also describe reassurance as a primary reason for prenatal testing. Eisenberg Et Al., supra note 50, at 42 (stressing the value of prenatal testing even for those who would not consider an abortion because “[f]or the vast majority of expectant parents the best reason for prenatal diagnosis is the reassurance it almost always brings”); Iovine, supra note 50, at 59, 85, 87 (describing AFP screening and ultrasounds as tests that can offer reassurance).

99 See infra text accompanying notes 117-118.

100 Rothman describes not only how the existence of amniocentesis creates anxiety, but also how it destroyed traditional means of reassurance for many women, such as feeling fetal movement. Most women who undergo amniocentesis, she found, do not find fetal movement reassuring, whereas those who do not have amniocentesis found quickening reassuring. See Rothman, supra note 49, at 108-10.

101 Of course, the fact that women are increasingly delaying childbearing means that more and more women are in the “high risk” group with respect to Down syndrome.

102 Lauran Neergaard, Gene Tests Offered for Cystic Fibrosis, Deseretnews, Oct. 3, 2001, at All.

103 Cystic Fibrosis: Widespread Testing Begins this Month, Am. Health Line, Oct. 2, 2001 (quoting the American College of Obstetricians and Gynecologists); Neergaard, supra note 102. The test will also be available to non-Caucasians, who have a lower incidence of carrying the disease gene. Id. This test is not 100% accurate, however, raising concerns about the need for adequate counseling.

104 Id. The risk to the fetus is much smaller. If the woman and her partner are at “high risk” (i.e., have a 1/29 chance of being a carrier), the fetus has a risk of 1/3364 (1/29 x 1/29 x 1/4) of being affected. This is not high compared to risks that we all face, though it is considered high in the world of inherited disorders. Of course, if both partners are carriers, the fetus has a 1/4 chance of being affected.

In my experience, although many people are aware that cystic fibrosis exists, most do not understand the nature of the disease, let alone that it is not only inherited but one of the most common inherited diseases. Even those who know it is inherited are often quite surprised to discover that the risks are as high as 1/29 for Caucasians. Thus, even if some women were concerned about cystic fibrosis before these recommendations were issued, I suspect that the vast majority will now add it to their list of pregnancy concerns.

105 Malinowski, supra note 62, at 1453. Factors such as desired number of children or stage of life when embarking on parenthood might influence one's desire for “normalcy.” One might argue that the desire for perfection would be high among Western couples given the low birth rates. Such couples may take greater pains to achieve the “ideal” child if they plan on having only one or two children. See Ruth R. Faden et al., Prenatal Screening and Pregnant Women's Altitudes toward the Abortion of Defective Fetuses, 11 Am. J. Pub. Health 288, 289 (1987) (noting that those whose ideal number of children was smaller “often were likely to view abortion as justified” when amniocentesis identified a neural tube defect). Similarly, women who delay childbearing may try harder to have the “perfect” child, since they have fewer “chances” than women who start earlier. On the other hand, one might argue that couples with fewer children may be less concerned with “perfection” because they have more energy and resources for a special-needs child than couples with several children. Additionally, women who delay child-bearing may be less interested in prenatal testing because they may be less willing to risk losing a pregnancy when they have less time to bear children.

106 Allen, Garland E., Is A New Eugenics Afoot?, 294 Science 59, 61 (2001)CrossRefGoogle Scholar.

107 Rothman, supra note 49, at 60-61 (describing a woman who expressed particularly strong feelings of disgust regarding Down syndrome, using such adjectives as “idiot” and “mutant being.”).

108 Id. at 59-60 (discussing the benefits to society of using technology in this manner).

109 Morris, David T., Cost Containment and Reproductive Autonomy: Prenatal Genetic Screening and the American Health Security Act of 1993, 20 Am. J.L. & Med. 295, 308-10 (1994)Google Scholar. One HMO tried to secure agreements that couples would terminate an affected pregnancy in exchange for the provision of prenatal testing. Id. In the most famous anecdote, an HMO refused to pay for the healthcare costs of a fetus diagnosed with cystic fibrosis. Only after public outcry did the HMO reverse its decision. Andrews, supra note 93, at 986.

110 See Malinowksi, supra note 58, at 1472-74 (describing a couple's plan to decide whether to terminate a pregnancy based on the severity of the condition and the child's potential quality of life because they “could [not] watch a child suffer through life.”)

111 Rothman describes this way of looking at childbearing as a kind of commodification of children, a view of children as “products of conception.” Id. at 2.

112 Three jurisdictions, California, New Jersey and Washington, also recognize wrongful life lawsuits. 2 Barry Furrow, Et Al., Health Law § 19-5, at 473 (1995). In these lawsuits, the plaintiff is the child born with the birth defect. In essence, the plaintiff claims that she has been damaged by being born with the birth defect. Implicit is the idea that the plaintiff would have been better off never having been born. See id. at 462.

113 Ellen Wright Clayton, What the Law Says about Genetic Testing and What it Doesn't, in Women and Prenatal Testing: Facing the Challenges of Genetic Technology 131, 139 (Karen H. Rothenberg & Elizabeth J. Thomson eds., 1994).

114 Id. at 140.

115 Furrow Et Al., supra note 112, § 6-2, at 362.

116 Malpractice claims for wrongful birth are more prevalent than claims for failure to inform of the risk of miscarriage from amniocentesis, probably because providers of amniocentesis are so careful to discuss and provide consent forms that describe the risks of the procedure. See, e.g., Bedel v. Univ. of Cinn. Hosp., 669 N.E.2d 9 (Ohio App. 10 Dist. 1995) (affirming the dismissal of an informed consent action alleging the physician's failure to discuss the risks of the miscarriage that followed amniocentesis on the grounds that the patient was verbally informed of the risk and signed three consent forms). Similarly, causes of action for incorrectly diagnosing a fetal abnormality that resulted in the patient's decision to terminate what was, in fact, a normal pregnancy are rare. See, e.g., Martinez v. Long Island Jewish Hillside Med. Ctr., 512 N.E.2d 538 (N.Y. 1987) (reversing the lower court's dismissal of a claim for emotional distress when physician erroneously diagnosed brain abnormalities, resulting in pregnancy termination; emphasizing, however, the unusual circumstances of the case: the plaintiff suffered emotional distress not because of what happened to the fetus, but because of the psychological injury from agreeing to an act she believed to be a sin except in unusual circumstances).

117 Studies later found an association between low MSAFP levels and increased risks of Down syndrome in women under thirty-five years of age. Sherman Elias et al., Carrier Screening for Cystic Fibrosis: A Case Study in Setting Standards of Medical Practice, in Gene Mapping: Using Law and Ethics as Guides 186, 196 (George J. Annas & Sherman Elias eds., 1992).

118 Id. at 195-96.

119 Id. at 196.

120 ° Id.

121 MSAFP screening, when conducted alone for Down syndrome, had worse statistics. The test could identify only 30% of such pregnancies, though the vast majority of low MSAFP levels were not associated with Down syndrome or other abnormalities. Personal communication with Suzanne Diment, R.N., Henry Ford Hospital (April 19, 2002). Better screening tests for Down syndrome have replaced simple AFP screening. The triple screen test, which analyzes AFP, human chorionic gonadotropin and unconjugated estriol, is typically used. Newer tests include the quadruple screen, which combines analysis of inhibin A (a hormone) with the triple screen test, and the integrated screen, which combines the quadruple test with ultrasound analysis. These newer screening tests identify more cases of Down syndrome and have lower false positive rates than MSAFP screening alone. See Brody, supra note 16, at F6. For example, depending on cut-off levels, the false positive rate with the quadruple test is around 4-6%, with a detection rate of 76% (91% for women over thirty-five years of age). Personal communication with Suzanne L. Diment, R.N., Henry Ford Hospital (April 19, 2002).

122 Elias et al., supra note 117, at 196-97 (citing American College of Obstetricians and Gynecologists (“ACOG”), Technical bulletin No. 67, Prenatal Detection of Neural Tube Defects, ACOG, Washington, D.C., 1982).

123 Id. at 196.

124 Id. (emphasis omitted).

125 Id. at 197.

126 Id. (emphasis added).

127 Interestingly, although the Food and Drug Administration approved the use of MSAFP screening for neural tube defects in 1983, it never approved the use of MSAFP screening for Down syndrome. Assessing Genetic Risks, supra note 3, at 79.

128 Ironically, by encouraging providers to adopt AFP screening as part of the standard of care, ACOG actually made wrongful birth claims based on a failure to offer MSAFP screening much more viable. Some have speculated that the MSAFP story was the legal liability department's reaction to a current case at the time, Helling v. Carey, 519 P.2d 981 (1974), in which the Supreme Court of Washington defined the legal standard of care, not based on the medical standard, but instead based on the “reasonable prudence” test. Elias et al., supra note 117, at 197-98. InHelling, the defendant physicians, who had complied with the medical standard of care not to screen for glaucoma in patients under forty, were found to have deviated from the “reasonable prudence” standard by failing to screen a patient under forty. ThoughHelling is one of only a few cases that reject customary medical practice, some have identified a general trend toward a general negligence standard, rather than a medical-based standard, of care in medical malpractice. See Philip G. Peters, Jr., The Quiet Demise of Deference to Custom: Malpractice Law at the Millennium, 57 Wash. & Lee. L. Rev. 163 (2000).

129 Ultimately, ACOG's scientific committees did recommend that MSAFP screening be routinely offered to all pregnant women. Elias et al., supra note 117, at 198. When the cystic fibrosis gene was identified, genetic professionals raised concerns that fear of medical liability would drive practitioners to offer widespread cystic fibrosis screening to couples planning pregnancy, even at a time when the testing offered only limited information. See Benjamin S. Wilfond & Kathleen Nolan, National Policy Development for the Clinical Application of Genetic Diagnosis Technologies: Lessons from Cystic Fibrosis, 270 Jama 2948, 2949 (1993). Cautioned by the MSAFP story, the profession had studiously avoided adopting carrier testing for cystic fibrosis as part of the standard of care until evidence suggested the test was sufficiently informative. Only now, more than ten years after the gene's identification, has the profession been persuaded that the test is ready for widespread availability. See supra text accompanying note 103.

130 Press & Browner, supra note 85, at 202.

131 Cal. Code Regs. Tit. 17, §. 6527 (2002). Clinicians shall provide or cause to be provided to all pregnant women in their care before the 140th day of gestation, or before the 126th day from conception, as estimated by medical history or clinical testing, information regarding the use and availability of prenatal screening for birth defects of the fetus. This information shall be in a format to be provided or approved by the Department [of Health] and shall be given at the first prenatal visit and discussed with each pregnant woman.

Id.

132 Press & Browner, supra note 85, at 202.

133 Id. at 205.

134 Id. at 205.

135 Centers used such measures as circulating memos stamped “Think AFP” and encouraging providers to contact women who missed AFP appointments to discuss their reservations. Id.

136 Id. at 206.

137 Id. at 206-07.

138 Id. California also developed an AFP booklet to be given to all prenatal patients. The booklet was similarly vague about the conditions AFP screening might detect. Moreover, nothing in the booklet indicated that the majority of these conditions cannot be treated except through pregnancy termination. It only stated that if the fetus has a birth defect, “different options will be discussed” and services are available to “support whatever decision the woman makes.” Id. at 208-09.

139 Id. at 206.

140 Id. at 202, 205. The study found acceptance rates of 85% compared with the national acceptance rate of about 65%. Id. at 216 n.10.

141 The authors provide clear evidence of just how poorly informed the patients actually were. None surveyed could adequately explain the conditions screened for. Less than one-third even recognized the term neural tube defect and, of those, only two-thirds had an accurate idea of what the term meant. Sixty percent recognized the term spina bifida, but only half of them could define the condition. Fewer than half of the surveyed patients knew what would happen next if the AFP test result was positive, and more than one-third believed that the state required pregnant women to take the test. Id. at 209-10.

142 A key element to true choice with respect to prenatal testing is making the technology available to all women. That everyone does not have equal access to healthcare generally and genetic testing specifically is not news: it is estimated that over forty million Americans are uninsured. Milt Freudenheim, Coalition Forms to Reverse Trend of Fast-Rising Ranks of Uninsured Americans, N.Y. Times, Feb. 9, 2002, at A12. See also Clayton, supra note 97, at 134-38 (describing problems of access to genetic services). The problem of unequal access to genetic technology, important though it is, is beyond the scope of this Article.

143 Ruth Hubbard, Some Legal and Policy Implications of Recent Advances in Prenatal Diagnosis and Fetal Therapy, 7 Women's Rights L. Rep. 210 (1982).

144 Rothman, supra note 49, at 11 (“In gaining the choice to control the quality of our children, we may rapidly lose the choice not to control the quality, the choice of simply accepting them as they are.”); Nancy Press & C.H. Browner, Why Women Say Yes to Prenatal Diagnosis, 45 Soc. Sci. & Med. 979 (1997) (reporting that a study of AFP screening at an HMO in California showed that most women felt obligated to undergo prenatal screening for the benefit of their child and because it was wrong to refuse testing).

145 See Anderson, supra note 65, at 128 (noting that in this study, “[patients'] initial reaction was to assume that it is a medically necessary procedure”).

146 paivi Santalahti et al., Women's Decision-Making in Prenatal Screening, 46 Soc. Sci. & Med. 1067, 1069-70(1998).

147 Press & Browner, supra note 85, at 209-10.

148 Id. at 214.

149 By contrast, I have no problem raising such questions in my law school classes. The norms of law school teaching entail pressing students to think about the full implications of their statements to see how far an argument goes and what underlies it. The emphasis on nurturing and support in genetic counseling and, especially, neutrality can make the goal of helping patients clarify their values and true preferences difficult because pressing questions like these could be viewed as critical, judgmental, directive and overly challenging.

150 As noted above, seesupra note 23,1 am skeptical that the rigid adherence to neutrality that many advocate in defending nondirectiveness can achieve that goal. Certainly not all counselors interpret nondirectiveness so rigidly. See Malinowski, supra note 62, at 1468 (describing the minority view among genetic counselors that it is not nondirective to express one's view that a “moral and ethical judgment [is] okay for one situation but not for another”).

151 If patients have an abnormal screening result, they would then have the option of diagnostic testing, which might indicate that everything is all right.

152 Press & Browner, supra note 85, at 207.

153 Rothman, supra note 49, at 39 (describing her “distinct impression that the client had no idea what [prenatal testing] was all about,” in several instances, even when the client was well-educated and middle class).

154 Aliza Kolker & B. Meredith Burke, Grieving the Wanted Child: Ramifications of Abortion After Prenatal Diagnosis of Abnormality, 14 Health Care for Women Int'l 513 (1993) (describing grief, mourning and marital problems in women who went through therapeutic abortions); M.C.A. White-Van Mourik, The Psychosocial Sequelae of a Second-Trimester Termination of Pregnancy for Fetal Abnormality, 12 Prenatal Diagnosis 189, 192-95 (1992) (noting that eighteen months after therapeutic abortion, 20% of women were still depressed and 71% observed a change in their relationships; 12% separated). One self-described “semi-anecdotal” study found signs of emotional distress in twelve women interviewed three to forty-nine months after having a therapeutic abortion. P. Donnai et al., Attitudes of Patients after “Genetic” Termination of Pregnancy, 282 Br. Med. J. 621, 622 (1981). Seven made good emotional recovery, three fair and two disturbing and distressing recovery. Id. Another study of families who chose therapeutic abortions found depression was prevalent in most couples who chose therapeutic abortions. Only 2/13 of women and 4/11 of men failed to mention depression in describing their reactions. Bruce D. Blumberg et al., The Psychological Sequelae of Abortion Performed for a Genetic Indication, 122 Am. 5. Obstetrics & Gynecology 799, 805-06(1975).

155 Blumberg et al., supra note 154, at 805. Another study asserts that early social termination of unwanted pregnancies is not that hard, though they provide little empirical data to support that sweeping claim. P. Donnai et al., supra note 154, at 622.

Numerous factors explain why therapeutic abortions are more difficult than social abortions. One difference is in the timing. Social abortions tend to be conducted in the first trimester, whereas—until CVS became more widely used—therapeutic abortions were conducted in the second trimester, after amniocentesis results were available. Abortions in the second trimester are more difficult than earlier abortions both emotionally and physically. Women undergoing second trimester abortions have often felt fetal movement, which can create a powerful emotional bond with the fetus; many may have also bonded with the fetus through ultrasound images; and their pregnancy has become evident to others, making the termination decision potentially more public. Pryde et al., infra note 163, at 503. Fantasies about the fetus and the future child's sex, appearance and talents are more likely in the second than first trimester, in part, because of the emotional bonding that has occurred. Blumberg et al., supra note 154, at 806. Moreover, first trimester abortions are safer, easier to perform and less emotionally and physically demanding. Blumberg et al., supra note 154, at 807; Pryde et al., infra note 163, at 503. Therapeutic abortions also end what is often a desired or otherwise wanted pregnancy, resulting in a deep sense of loss. M. Di Gusto et al., Psychological Aspects of Therapeutic Abortion After Early Prenatal Diagnosis, 18 Clinical & Experimental Obstetrics & Gynecology 169, 172 (1991) (reporting that 42% of pregnancies in which fetal abnormalities were found were planned and 36% were desired; only 22% were completely by chance, but by the time of diagnosis had become acceptable). In contrast, social abortions, by definition, are based on the undesirability of pregnancy. Terminating pregnancies because of genetic defects also carries for many a sense of guilt for having passed, albeit unintentionally, a genetic trait to the fetus—couples may feel they have “caused” the abnormality. Blumberg et al., supra note 154, at 806.

156 Blumberg et al., supra note 154, at 807.

157 Id. at 807-08.

158 Id. at 808. The authors also advise easier termination, earlier termination and post-abortion support. Id.

159 See Huggins et al., supra note 28, at 514-15.

160 The medical profession has tended to view this balance in rather simplistic terms; it compares the numerical risk of abnormality with the risk of complications. Indeed, it is precisely because the risk of miscarriage was lower than the risk of Down syndrome in women over thirty-five that amniocentesis was routinely offered to those women. Asking individuals to compare the risks of procedural complications with the risk of having an affected fetus, however, has always struck me as an “apples and oranges” kind of comparison. This pure number comparison assumes that couples weight a pregnancy loss equally to having a child with a birth defect. The comparison, however, depends on much more than the statistical risk. It depends on one's personal valuation of obtaining the knowledge and not losing the pregnancy. If anything is personal, surely it is the weight a woman or couple would assign to either negative outcome.

161 See supra text accompanyingsupra note 119. The risk of false positives with newer screening tests is lower. See sources citedsupra note 121. How patients react to these new tests has been less well explored than their reactions to MSAFP screening.

162 Theresa M. Marteau et al., The Psychological Effects of False-Positive Results in Prenatal Screening for Fetal Abnormality: A Prospective Study, 12 Prenatal Diagnosis 205, 211 (1992).

Receiving an abnormal AFP result on a routine screening test is associated with extremely high levels of maternal anxiety, as high as patients with a diagnosis of generalized anxiety disorder and higher than patients the night before major surgery. This high level of distress is reflected in increased worry about the baby's health and a more negative attitude towards both the baby and the pregnancy.

Id. (citations omitted).

163 See Peter G. Pryde et al., Prenatal Diagnosis: Choices Women Make About Pursuing Testing and Acting on Abnormal Results, 36 Clinical Obstetrics & Gynecology 496, 499 (1993) (noting that whether this poor understanding is the result of “policies of 'universal screening,' in which an inadequate effort has been made on the part of prenatal care providers to educate and provide informed consent at this level, or whether it is a counseling psychology issue is not yet known”).

[T]here are data to suggest that a majority of women choose to be screened despite a remarkable rate of participants demonstrating, in exit interviews, a poor understanding of the [screening] program. Many patients appear to have a poor grasp specifically about the concept of screening, the value and limitations of the information being sought, the meaning of a positive test, and the potential pregnancy decisions that might be faced in the rather common event of a positive screen result.

Id.

164 “Extremely high levels of anxiety have been found at the time of the test result and some weeks later in women who receive an abnormal result on first, but not subsequent testing.” Theresa M. Marteau et al., Anxiety, Knowledge and Satisfaction in Women Receiving False Positive Results on Routine Prenatal Screening: A Randomized Controlled Trial, 14 J. Psychosomatic Obstetrics & Gynaecology 185, 187 (1993) (citing four studies with such findings). One study found that women who chose diagnostic testing after receiving a positive AFP screening result experienced less anxiety than those who do not. Moreover, the anxiety of those who did not choose diagnostic testing extended into the post-partum period. Marteau et al., supra note 162, at 211.

165 I must emphasize that this is not to suggest that the screening test is inappropriate, but rather that it is not appropriate for all people. Some people, if they fully understand the distinction between screening and testing, might opt for no screening in the first place, because they know they would not undergo further prenatal testing. For these people, screening is particularly problematic if a positive result occurs. Others may not know how they would react if faced with a positive result, and they may therefore choose to undergo screening and deal with the issues if they arise.

166 Research suggests that stress can have negative effects on pregnancy outcomes. One study, for example, has found that the stress of working during pregnancy can increase the risk of preeclampsia (pregnancy-related hypertension), which can cause complications in late pregnancy. See Jenny Hope, Working While Pregnant “May Harm Mother and Baby “, Daily Mail, Apr. 18, 2002, at 23. Another study, however, found that psychological stress at work was not related to preterm, low birthweight delivery, unless the working women did not want to remain in the work force. C.J. Homer et al., Work-Related Psychosocial Stress and Risk of Preterm, Low Birthweight Delivery, 80 Am. J. Public Health 173 (1990) (stating that “[p]ersonal motivation to work, as well as the physical effort of work, should be considered in evaluating the impact of a job's psychologic characteristics on pregnancy outcome”). How these data bear on the pregnancy risks of anxiety caused by prenatal testing or screening is an empirical question worth exploring.

167 Marteau et al., supra note 162, at 211 (finding that eighteen out of twenty-six women with abnormal results underwent amniocentesis).

168 Barbara K. Burton et al., The Psychological Impact of False Positive Elevations of Maternal Serum Alpha-Fetoprotein, 151 Am. J. Obstetrics & Gynecology 77 (1985). The authors suggest, however, that they may have used unreliable measures of pregnancy attitudes. Id. at 81-82.

169 Marteau et al., supra note 162, at 206 (citing other studies that have found this phenomenon when people receive false positives for other screening tests and later receive normal test results).

170 But see Pryde et al., supra note 163, at 500 (“Our own data suggest that, although anxiety is clearly increased in such women with results over baseline, it is only slightly greater than that experienced by women seeking counseling for advanced maternal age. After counseling it appears to be commensurate with comparable actual genetic risks. We speculated that careful education regarding the nature of the MSAFP screening program is the most critical factor modifying women's perceived risks (and thereby, levels of anxiety) under these circumstances.”).

171 Unfortunately because the purpose of this study was to follow clinical outcomes, not psychological responses, we did not obtain precise statistics of psychological reactions. My descriptions are based on qualitative impressions from conversations I had with many women.

172 See Joseph Green, Prenatal Screening and Diagnosis: Some Psychological and Social Issues, 91 Br. J Obstetrics & Gynaecology 1074, 1075 (1990).

[I]n the case of AFP screening, the accumulation of data indicating that pregnancies with abnormal levels are at increased risk for a wide range of perinatal complications will only increase the fears of women with 'false' positive results, particularly when it is unlikely that this fore-knowledge can be used in any useful way.. . . The evidence linking anxiety in pregnancy with poor obstetric outcome should lead us to question whether we wish to create anxiety in . . . pregnant women in order to detect one neural tube defect, which arguably would, in any case, have been detected by a routine ultrasound scan.

Id. Some obstetricians, however, encourage MSAFP screeningbecause elevated MSAFP levels are associated with an increased risk of fetal anomalies and they can monitor these pregnancies for negative outcomes. Personal communication with Christopher Grover, M.D. (June 4, 2002).

173 Of 372 women in the study, twenty-six had abnormal results. None of the women with abnormal screening results was found to have an abnormality on further testing and none had a child with Down syndrome or spina bifida. Marteau et al., supra note 162, at 208.

174 Id. at 213.

175 Id. at 206.

176 Id. at 209. Interestingly, a follow-up study by the authors found that women who received abnormal AFP screening results did not show any rise in anxiety either when they received the results or later. Marteau et al., supra note 164, at 192 (2d study). They offered several possible explanations: 1) clinical practice had changed since their prior studies or as a result of the more recent study, 2) the act of filling out the questionnaires reduced anxiety, 3) women didn't fill out the questionnaires at the height of their anxiety and 4) the more anxious women did not complete the questionnaires. Id. at 194.

177 Marteau et al., supra note 162, at 213 (“[W]omen may believe that their initial abnormal result is indicative of some underling problem: 'no smoke without fire.'”).

178 Jeffrey R. Botkin, Prenatal Screening: Professional Standards and the Limits of Prenatal Choice, 75 Obstetrics & Gynecology 875 (1990) (“There is perhaps no area of medicine with a stronger commitment to patient autonomy than reproductive genetics.”).

179 Gail Geller et al., Genetic Testing for Susceptibility to Adult-Onset Cancer: The Process and Content of Informed Consent, 277 Jama 1467, 1468 (1997) (quoting P.S. Appelbaum Et Al., Informed Consent: Legal Theory and Clinical Practice (1987)).

180 Andrews, supra note 93, at 978-80, 982-84; Kessler, supra note 21, at 169-70 (discussing the development of the role of genetic counseling toward a psychological focus on the individual and family).

181 Informed consent, to be meaningful, really should be understood as a “an ongoingprocess that takes place while the emotional, physical and information status of the patient is changing,” rather than a '"discrete act that takes place in a circumscribed period of time.'” Nancy Press & C.H. Browner, Risk, Autonomy, and Responsibility: Informed Consent for Prenatal Testing, Hastings Ctr. Rep. May-June 1995, at S9, S10 (emphasis added).

182 By intuition or “gut feelings,” I refer to the inner sense one might have about one's health or body—a judgment based on imponderable evidence or “knowing without knowing how you know.” Kathleen Doheny, Playing a Hunch: Intuitive and Analytical Thought Styles Can Coexist and Strengthen Each Other, St. Louis Post-Dispatch, Feb. 10,1991, at PD14. The validity of this kind of knowledge has not been widely studied; “intuition is by its nature difficult to study because whatever is happening is happening on a subconscious level.” Barbara Brotman, How Do You Know?: If You Don't Even Need to Read This Story, You Might Want to Anyway, Chi. Trib., Sept. 22, 1996, at CN1. Nevertheless, some scientists are attempting to understand this phenomenon through scientific analysis. See, e.g., Rob Stein, With New Findings, Neuroscientists Have a Hunch Intuition Makes Sense, Wash. Post, Feb. 28, 1997, at A14 (describing a study that identified a part of the brain that seems to be required for intuition).

183 American Institute of Ultrasound in Medicine, Standards for Performance of the Antepartum Obstetrical Ultrasound Examination 2 (1994) (stating that following the standards will improve the chances of detection of abnormalities, but also noting that it is impossible to detect all anomalies).

184 See Malinowski, supra note 62, at 1463-64 (discussing the possibility of ambiguous results).

185 Louis J. Elsas II, A Clinical Approach to Legal and Ethical Problems in Human Genetics, 39 Emory L.J. 811,834(1990).

186 Of course, not all women feel that way. Rothman describes some women who felt they had “alternative sources of knowledge,” which didn't require scientific verification. Rothman, supra note 49, at 72. One of the patients Rothman interviewed stated, “this may sound odd, but I already felt quite sure he was fine.” Id. at 52. Although this woman ultimately relied on her intuition in deciding not to be tested, the preface to her statement reflects a recognition that such knowledge is not socially valid.

187 Sometimes patients, particularly less-educated patients, offered rather mystical explanations for events that seemed utterly to discount proven medical science. A baby was born with a birth defect, one patient, told me, because someone had blown smoke toward the woman's pregnant womb.

188 It turns out that my intuition that all was well with my baby was right. I gave birth to a healthy baby boy. My sense, especially in the beginning of the pregnancy, that I was carrying a girl, however, turned out to be wrong. My anecdote of course does not resolve the question of the validity of intuition, particularly because the odds were clearly in my favor to have a healthy child and merely 50/50 that I would have a girl.

189 See supra text accompanying notes 24-25.

190 In the process of searching for genes and new mutations for late-onset conditions, researchers often recruit volunteers to undergo genetic testing. Assessing Genetic Risks, supra note 3, at 157. While such studies are underway or shortly after a new gene has been identified, nongeneticist physicians, most of whom have little training in genetics, are unlikely to be aware of tests for these conditions, much less to offer them routinely to patients. This is generally a good thing. Given their lack of genetics education, such physicians are likely to have difficulty interpreting the often complex data. Unfortunately, over time some of the same pressures that have contributed to the routinization of prenatal testing may develop in this area. Some believe that pressures from the biotechnology industry, fears of legal liability and growing public awareness of genetic tests for late-onset conditions may pressure non-geneticist healthcare providers to offer late-onset tests to patients. Malinowski & Blatt, supra note 44, at 1246-47. Indeed, based on the concerns that late-onset testing is particularly complex, the Committee on Assessing Genetic Risks recommended that counseling for such testing “be provided in a specialized genetics center familiar with the genetics and psychosocial aspects of the disorder in the context of pilot studies.” Assessing Genetic Risks, supra note 3, at 177.

191 Anderson, supra note 65, at 129-30 (describing the “moral imperative” of testing that the medical profession adopts, in the view that it is for the good of the fetus, family, and society).

192 Just as the possible toxicity of information from late-onset testing is not a reason for everyone to avoid genetic testing, neither is the potential toxicity of information from prenatal testing a reason for everyone to avoid prenatal testing. But it is a risk about which patients should be inforMed.

193 For example, choosing to continue a pregnancy with an affected fetus may require additional financial and emotional resources. As a result, some couples may have fewer children or choose less demanding careers. Conversely, it might inspire some couples to have more children, in the hopes of having an unaffected child.

194 Learning that you have the gene for HD might make you less inclined to pursue a career in neurosurgery for fear that the chorea would impair your surgical abilities, for example. Conversely, you might develop extra drive because the information makes you want to live your life as fully as possible.

195 See Suter, supra note 27, at 1865. Similar conflicts can exist when a sibling has the condition in question. See Andrews, supra note 93, at 978.

196 Supra text accompanying note 39.

197 Id.

198 Because HD is a monogenic, autosomal dominant condition, the presence of the gene is predictive of disease. In contrast, definitive prediction is not possible through a single genetic test for multifactorial conditions. Assessing Genetic Risks, supra note 3, at 86.

199 See sources citedsupra note 37.

200 Assessing Genetic Risks, supra note 3, at 158.

201 In recent decades, genetic counselors have become increasingly intolerant of risk. In 1973, three-quarters of genetic counselors surveyed considered a one percent risk to be “very low” or “low.” By 1990, a survey of genetic counselors found that only one in six respondents considered it “low.” Only a risk of one in five hundred was viewed by all genetic counselors as not “high.” Michie & Cahn, supra note 90, at 81.

202 Genetic counselors tend to perceive risk as more significant than the rest of the population. Rothman reported that half of the counselors she interviewed found that 1/50 is a high or very high risk. Only 75% view 1/400 as a low or very low risk. Rothman, supra note 49, at 43.

203 Even if the stresses associated with each are different in degree (a debatable point), the stresses are similar in quality, which argues for similar counseling approaches.

204 Some individuals in the disability community support any form of abortion on autonomy grounds. Some want to preserve the right since women with disabilities may be more likely to require abortions for medical reasons. Deborah Kaplan, Prenatal Screening and Diagnosis: The Impact on Persons with Disabilities, in Women and Prenatal Testing: Facing the Challenges of Genetic Technology 49, 51 (Karen H. Rothenberg & Elizabeth J. Thomson eds., 1994).

205 Some elements of society may view the disabled as an unfortunate drain on public resources. Andrews, supra note 93, at 993. The former Surgeon General, Jocelyn Elders, has described abortions as having a “positive, public health effect” because they reduce the number of children bom with severe birth defects. Dunne & Warren, supra note 46, at 172.

206 Kaplan, supra note 204, at 52.

207 Rothman, supra note 49, at 83

208 See generally Sonia Suter, Sex Selection, Nondirectiveness, and Equality, 3 U. Chi. L. Sch. Roundtable 473 (1996) (describing the discomfort genetic counselors have in dealing with decisions they view as immoral, such as sex selection). Genetic counselors may be reluctant to treat prenatal testing decisions as moral decisions to distance themselves from the politically and ethically loaded specter of abortion, which looms large on the horizon of their work.

209 Reproductive cloning may be an exception; a majority of the public finds it distasteful and immoral. See Judy Holland, Bush Finds Some Allies in War Against Cloning: He Calls on Trio of Injury Victims, San Antonio Express-News, Apr. 11, 2002, at 3A (noting that 77% of those surveyed are opposed to research on cloning humans).

210 See David E. W. Fenner, Negative Eugenics and Ethical Decisions, 17 J. Med. Hum. 17 (1996). Is terminating a pregnancy because the fetus has Down syndrome medical prevention or the elimination of undesirable traits? The line between preventing medical conditions and eliminating undesirable traits becomes particularly blurry when we describe conditions that are not life threatening, such as Down syndrome, dwarfism, deafness, etc. See id. at 19-20. Indeed, the distinction between the two is not static because social norms determine what we consider to be a disease.

211 Some of these choices may be morally sound depending on the moral justifications and context. Others may not be. As noted above, either way, they are moral decisions.

212 Rothman, supra note 49, at 11.

213 For example, as tests become available for late-onset conditions, a new layer of complexity is added to the equation as patients grapple not only with issues of reproductive testing, but also with issues associated with late-onset testing.