Informed consent or institutionalized eugenics? How the medical profession encourages abortion of fetuses with down syndrome.
ABSTRACT: Many women are unprepared to make prenatal decisions about fetuses diagnosed with Down Syndrome because of societal pressures to have "normal" children, a negative view of persons with disabilities by many in society, a fear of legal liability by those in the medical community, the lack
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There are numerous contributing factors to what some may call a high termination rate of fetuses that have tested positive for Down Syndrome. One major factor is the direct and indirect influences of medical professionals, which include genetic counselors, family physicians and obstetricians and gynecologists. In this article, I support the ethical principle of nondirective counseling and the genetic counselors who seek to achieve nondirectiveness. However, I suggest genetic counselors and many medical professionals have a deference to the use of medical technology and the belief that patients desire the maximum amount of information. This ingrained deference hinders most medical professionals from being neutral and often causes a subtle promotion of prenatal testing and abortion. Overall, increased prenatal testing contributes to the high abortion rate of fetuses diagnosed with Down Syndrome, a lack of genuine informed consent, greater intolerance of people and especially children with disabilities, and less money for research and development of effective treatments. To the extent that women are encouraged to terminate their pregnancies, prenatal testing and abortion of affected fetuses cannot be considered morally justified because the decision lacks genuine informed consent.
Similarly, other medical professionals, such as family physicians, obstetricians and gynecologists, contribute to the problem. Initially, almost all women seek prenatal treatment from a family physician or obstetrician and gynecologist. However, these medical professionals tend to spend significantly less time with patients compared to genetic counselors, which can result in miscommunications. Moreover, these professionals may encourage prenatal testing and the use of "up front" consent forms to reduce legal liability. In addition, these medical professionals typically receive inadequate genetic training, which can result in the misinformation, and most discouraging, undue influence, bias or prejudice against persons with disabilities, which circumvent informed consent. Time constraints, fear of liability, little genetic training and the practice of directiveness can easily result in a negative tone that manifests itself in phrase such as, "I'm sorry," or "Unfortunately, I have some bad news to share" and conversations void of the positive reality that many individuals with Down Syndrome can become semi-independent and with good medical care can live into adulthood. Lastly, both medical professionals and patients and their families may overly rely on genetic technologies, which are far from perfect. The assumption that these technologies are 100% accurate can lead to many injudicious and erroneous choices depending upon the degree of inaccuracy. Yet, medical information is only part of what women and their families use to make their decisions. Their decisions are likely more substantially swayed by societal influences and pressures.
It is important to realize that genetic counselors and other healthcare professionals bring their own values into the prenatal testing process, with patients also adding different and competing values and background knowledge to the process. Furthermore, patients' values reflect a combination of individual perspectives and social norms. While a great deal of variation exists among patients, some trends may be observed. Some women reject prenatal testing because they know they would not have an abortion for moral, religious or personal reasons. Others reject such testing because of the risk of miscarriage. But a vast majority of women at increased risk (those for whom it is medically indicated) of chromosomal or other detectable conditions under the old guidelines choose prenatal screening and/or testing. (1) Several factors contribute to this trend. Just as medical professionals are not neutral about the value of information, neither is our society, which views the gathering of information as a sign of responsible behavior and good decisionmaking. (2) In the context of prenatal testing, patients may believe that getting information about the fetus is not only the right thing to do, but a form of reassurance and a way to get a sense of control over the potentially overwhelming experience of reproduction. (3) This trend contributes to the massive increase in prenatal testing and the need to know whether a child has a disability.
This article does not propose the elimination of prenatal testing. Rather, it proposes that the genetic testing and counseling should not be biased against the birth of children with disabilities. Genetic testing and counseling should not convey directly or indirectly the message that the lives of persons with disabilities are worth less than other lives, or that the only practical alternative is to prevent their existence through abortion.
Overall, prenatal testing should be a way for women and their families to reduce the stress and anxiety associated with the unexpected birth of babies with special needs and also a conduit through which women are given information to help them appreciate the value of children with special needs and expand their knowledge of available services and treatment options for such children. However, the practical result of prenatal testing tends to be an increased termination rate of fetuses diagnosed with Down Syndrome or other genetic anomalies.
Is Abortion the Solution to Down Syndrome?
On May 9, 2007, Amy Harmon of the New York Times wrote an article titled, "Prenatal Testing Puts Down Syndrome in Hard Focus." (4) In this article she stated that 90% of women who receive a positive diagnosis of Down Syndrome choose to have an abortion. The New York Times received thousands of emails and letters by readers, such as George E Will, who found the 90% percent statistic to be morally problematic, probably untrue, and a sign of medical procedural failure. This article will discuss the human, societal, and medical aspects of prenatal genetic testing of Down Syndrome fetuses that contribute to a high abortion rate.
Before examining the various contributing factors, it should be noted that the statistic that "90% of women who receive a positive fetal diagnosis of Down Syndrome choose to have an abortion" (5) may be too high. That number may be overestimated and the source should be questioned for several reasons. First, although no official data exists, medical professionals report that often women abort when they discover there is mental retardation or a serious anatomical birth defect, sometimes incompatible with life. (6) But some argue that the women who choose to have prenatal testing are the women most likely to be considering abortion, so the population having prenatal testing is more likely to be predisposed to have an abortion. (7) Second, some doctors do not refer patients for genetic counseling or prenatal testing if they say they would not consider abortion. (8) Third, all the numbers are suspect because there is no birth certificate when a baby is aborted and a lot of states do not track abortions (e.g., Pennsylvania) which results in a lack of good epidemiology. (9) Fourth, many cities like Pittsburgh have Down Syndrome clinics that are instrumental in helping children develop and become a part of the community. (10) Fifth, after extensive research, it appears the abortion rate varies significantly by region. (11)
Professor Elizabeth Gettig, (12) MS, CGC, stated that during the 1980's she practiced genetic counseling in North Carolina and after a positive Down Syndrome diagnosis, almost 100% of the women aborted because of a lack of economic resources. (13) In contrast, in Pittsburgh she found that about half of the women with a positive diagnosis for Down Syndrome continue the pregnancy and about half abort. (14) She gives several reasons for this disparity. First, the Pittsburgh region has a higher percentage of Catholics. Second, there are more services than most cities in Pittsburgh to assist children who have disabilities. (15) Lastly, the new federal law protects all children with disabilities so that from ages 0-3 parents of children with disabilities receive free services for the disabled child and all children at age three receive an Individual Educational Plan so that they can start developmental daycare and other services before going to school. (16) Furthermore, because the services are better, the child has a better chance of living independently and becoming an integral part of the community.
Other genetic counselors, journalists and medical professionals find different statistics. Elizabeth A. Balkite, (17) stated that in her own experience she believes the termination rate for Down Syndrome pregnancies to be roughly 60%. (18) She thinks that the other 40% keep the baby or place the baby up for adoption. (19) Ellen Wright Clayton, M.D., J.D., believes the number is closer to 50 percent. (20) In the January 29, 2007 Newsweek article titled "Golly, What Did Jon Do?," George E Will stated, "At least 85 percent of pregnancies in which Down Syndrome is diagnosed are ended by abortions." (21)
The 90% New York Times statistic is suspect because it was based on the results of one research study rather than different regional averages. (22) Furthermore, nationwide abortion numbers do not exist. In sum, although Professor Gettig experienced a 100% termination rate in the 1980's in North Carolina and the New York Times reported 90%, these numbers may to be overestimated because of the increased financial channels and educational groups and programs available to assist parents with their Down Syndrome children.
The Medical Background
The genetic counselors I interviewed agreed that the most common reason for aborting a fetus with Down Syndrome is the financial, emotional, physical and time constraints that accompany raising a child with Down Syndrome. (23) Additionally, there is immense societal pressure to produce children that are "normal" (meaning children that are disease and mental retardation free). The most direct consequence of widespread prenatal genetic testing, maternal serum fetal cell sorting (24) CMSFCS") or maternal plasma DNA recovery (25) ("MPFDR"), is a decrease in the number of babies born with genetic diseases and chromosomal abnormalities. (26) Prenatal testing for many is a desired way to avoid children with genetic disease. The burdens to the child, family, and society are great enough to make a parental choice against children with this trait rational, understandable, and to some, even desirable. The above makes the Down Syndrome abortion issue a commonplace medical problem.
What is Down Syndrome?
Down Syndrome (27) is the most common chromosomal problem in live born babies. (28) It is a congenital condition resulting from a chromosomal defect that causes varying degrees of mental retardation and some physical abnormalities. (29) The word "syndrome" means that many different characteristics are usually seen together. For example, in Down Syndrome, these features include low muscle tone, small stature, a single crease across the center of the palms, small amounts of extra skin at the corner of one's eyes, bright "speckles" in the iris called Brushfield spots, flat nasal bridge, small mouth, small ears, excessive skin at the nape of the neck, a deep fissure between the first and second toes, flatness of the back of the head and an upward slant to the eyes. (30) Although the above features are common in Down Syndrome, they are not all found in every child with Down Syndrome. (31) Besides the above listed physical features, a child with Down Syndrome will resemble other family members. (32)
The most commonly known feature of Down Syndrome is mental retardation. Mental retardation simply means that the child will have "below normal mental functioning." (33) The degree of mental impairment is unpredictable, ranging from mild (IQ: 50-70) to moderate (IQ: 35-50), and only occasionally severe (IQ: 20-35). (34) There is an increased risk of "congenital heart defects (35) (50%); leukemia (36) (<1%); hearing loss (75%); otitis media (37) (50%-70%); Hirschsprung disease (38) (<1%); gastrointestinal atresias (39) (12%); eye disease (60%), including cataracts (15%) and severe refractive errors (50%); acquired hip dislocation (6%); obstructive sleep apnea (40) (50%-75%); and thyroid disease (41) (15%)." (42) The social aspect of the development of a child with Down Syndrome may be improved with early intervention techniques, although the level of function varies. (43) Some children with Down Syndrome function better in social situations than might be expected from their IQ. (44) There is no way either prior to birth or early in life to determine how severe a Down Syndrome child's learning disability will be. (45) However, with good education, Down Syndrome children can learn throughout their lives and most will learn to walk, talk, and often read and write with some extra help in school. Many individuals with Down Syndrome can become semi-independent and with good medical care can live into adulthood. (46)
In roughly 95% of children with Down Syndrome, the condition is due to a nonfamilial disorder caused by the presence of three 21st chromosomes rather than the usual pair. (47) In approximately 3% to 4% of persons with the Down Syndrome phenotype, "the extra chromosomal material is the result of an unbalanced translocation between chromosome 21 and another acrocentric chromosome, usually chromosome 14." (48) Almost three-fourths of these unbalanced translocations are de novo, (49) and approximately one-fourth are the result of familial translocations. (50) In the remaining 1% to 2% of persons with the Down Syndrome phenotype, two cell lines are present: one normal and one trisomy 21. (51) This condition is called mosaicism. People with mosaicism, on average, may be phenotypically less severely affected than persons with trisomy 21 or translocated chromosome 21, but their conditions are generally indistinguishable in all other aspects. (52) Mosaic Down Syndrome usually occurs after conception, due to a mistake early in the formation of the baby's cells. (53) Because only some of the cells are involved, children with mosaic Down Syndrome may have fewer health and learning problems. (54)
The actual risk of Down Syndrome in a woman who is thirty-five is one in 385; the risk of her having a fetus with other anomalies is one in 434, making her total risk of chromosomal anomaly one in 204. (55) The likelihood of having a child with a chromosomal anomaly is minor. However, one could argue the low risk of anomaly creates an incentive for women to abort their fetus with Down Syndrome and try again to have a child without a chromosomal anomaly because the chances of having another fetus with Down Syndrome are low. At the same time, others contend that even a small possibility of harming one's fetus during a prenatal test is too great. Because the symptoms of Down Syndrome are treatable and the child can live without major disability, some couples refuse prenatal screening or abortion to prevent such births. (56) However, because there are no guarantees in advance about the severity of a particular case, and because even the best situations will require substantial supportive efforts by parents, many couples are unwilling to bring such a child into the world. (57)
What is Prenatal Testing and Diagnosis?
Prenatal testing and diagnosis refers to "all the technologies currently in use or under development to determine the physi(ologi)cal condition of a fetus before birth." (58) There are two major types of prenatal diagnosis: amniocentesis and chorionic villus sampling (CVS). (59) Amniocentesis is usually performed between 16 and 20 weeks of pregnancy. (60) This test involves inserting a needle through the abdomen into the uterus to draw off a sample of amniotic fluid. (61) This fluid contains skin cells from the baby which can be used to do a chromosome test. (62) The chance of miscarriage is between 0.5 percent and 1%. CVS is typically performed between 10 to 12 weeks of pregnancy. (63) It involves inserting a thin, plastic catheter through the vaginal canal to withdraw some placental tissue, which usually has the same chromosome makeup as the baby. (64) One version of this test, called transabdominal CVS, uses a needle, inserted through the abdomen, to collect the tissue sample. (65) A sonogram is done before or during each test to guide the catheter or needle. Also, there are different testing methods such as "ultrasound and the maternal serum alphafetoprotein3 blood test (MSAFP3) for neural tube defects and Down Syndrome." (66) CVS has the disadvantage of being an invasive procedure, and it has a small but significant rate of morbidity for the fetus; the mortality rate is about 0.5 to 1% higher than for women undergoing amniocentesis and is 0.5%-1% over the general population risk. (67)
There are two dominate themes regarding prenatal diagnosis: (1) the public health model and (2) the reproductive autonomy model. (68) In the "public health" model, prenatal diagnosis is viewed as a way to reduce the frequency of selected birth defects. (69) Thus, under the public health model, prenatal diagnosis is a contributing factor to the high termination rate of fetus's diagnosed with Down Syndrome. In the "reproductive autonomy" model, prenatal diagnosis is viewed as a conduit through which women are given information to expand their reproductive choices. (70) Thus, under the reproductive autonomy model, prenatal diagnosis is a method to increase prenatal choice. Both approaches are active in our society and both approaches fail to recognize a major function of prenatal diagnosis. For many women, prenatal diagnosis is a way of avoiding "disaster." Through the use of prenatal diagnosis women can avoid the family distress and suffering associated with the unpredicted birth of babies with genetic disorders. (71)
The Disability Rights Perspective
The premise of the disability rights movement is that persons with disabilities are disadvantaged far more by negative social attitudes than by their disabilities. (72) Disability rights advocates contend that tests like amniocentesis often are performed because a value judgment has been made that there is merit in identifying a fetus who could become a person with a disability The premise of the expressivist (73) argument is that prenatal testing is morally problematic because it expresses negative or discriminatory attitudes about both impairments and those who carry them. (74) Its central claim is that prenatal tests that expose disabling traits express a hurtful attitude about and send a hurtful message to people who live with those same traits. (75) In the late 1980s, Adrienne Asch, a bioethicist at Wellesley College, put the concern this way: "Do not disparage the lives of existing and future disabled people by trying to screen for and prevent the birth of babies with their characteristics." (76)
Persons or families with disabled children have claimed that a policy that encourages abortion of fetuses with genetic anomalies is a public statement that the lives of people with disabilities are worth less than those of the able-bodied. (77) In addition, such a policy reduces the number of persons with those disabilities, thus reducing their political effectiveness. It also may manipulate couples into carrier and prenatal screening to avoid children with such characteristics. (78) In short, it engenders or reinforces public perceptions that people with disabilities should not exist, making intolerance and discrimination toward them more likely. (79)
The message sent, from this perspective, is that a child with the condition would be unacceptable to the prospective parents. This devaluation appears more subtly in the promotion of prenatal genetic testing as helping prospective parents to guarantee that they will have "healthy" children. (80) This rhetoric of good health fails to acknowledge that some traits screened for do not necessarily affect a child's health, although they may impair the child's abilities. (81) A perfectly physically healthy child with Down Syndrome or with deafness is a prime example. Viewed in this light, the appeal to good health, while unobjectionable on its face, may promote eugenic attitudes that individuals with some disabilities are properly excludable, not only from society, but also from existence. (82)
This is a powerful charge, and at the very least should remind us to look more closely at the effects of genetic selection programs on persons with disabilities, and to change the programs if they are in any way harmful, denigratory or disrespectful to people with disabilities. However, the charge is not irrefutable. Surely one can find a particular living situation less preferable than others yet still respect persons in that situation. A policy to prevent accidents that cause paraplegia does not harm existing paraplegics, nor prevent us from supporting programs that make their lives easier. Similarly, a program that enables people to avoid the birth of children with disabilities does not have to denigrate existing persons with those conditions. However, this is not the current state of prenatal genetic testing in this country with regards to Down Syndrome.
While genetic counselors around the world offer prenatal testing as an opportunity to maximize a couple's reproductive choices, disability scholars have recently condemned prenatal testing as typically done with the goal of identifying an affected fetus so that the fetus may be aborted. (83) This message has important, indeed critical, significance for the profession of genetic counseling and should not be overlooked. The disability rights (84) perspective has two central claims: first, prenatal testing is morally problematic; and second, prenatal genetic counseling is driven by misinformation. (85) However, advocates of prenatal testing argue the widespread use of prenatal testing enables parents to prepare emotionally and financially for the special needs of a child with Downs Syndrome. (86)
Another concern is that prenatal genetic testing encourages reductivism. (87) Here, the concern is that using prenatal testing for trait selection (or deselection) purposes will encourage the identification of a specific child with his selected trait(s) or, more generally, the identification of all persons with their selectable traits. (88) The identification of individuals primarily with a single, physical trait rather than with their personhood is precisely opposed to disability rights advocates' efforts to promote "people first" language in describing persons with disabilities. (89) The possibility of reductivism appears particularly troublesome for two reasons. First, it threatens the loss of an intangible aspect of how we view our fellow humans. (90) Our very respect for the dignity of the individual seems premised on our understanding that each individual is greater than the sum of his or her parts. (91) If, by contrast, we were to view our children or the persons with whom we interact in society as simply a combination of traits, then persons with similar traits would begin to appear largely interchangeable, and we would lose an important sense of the humanity and individuality of persons. (92)
Second, reducing our understanding of individuals to the sum of their traits also threatens to create new, and exacerbate existing, bases for social division. (93) Many of the seemingly intractable social divisions of our day are traceable, at least in part, to social groups focusing on one "part" of individuals (for example, their race, ethnicity, religion, or sexual orientation), rather than on their humanity. (94) It is easy to hate and chastise a label; it is more difficult to hate an individual when one views that individual as being a bundle of humanity--with joys, fears, dreams, concerns, vulnerabilities, and strengths. (95) By encouraging us to conceptually break down persons into traits, prenatal genetic testing threatens to reinforce our existing and destructive reductivist tendencies. (96)
Many of the problems we have regarding the normalcy of children center around the fact that we, in the United States, live in a celebrity oriented and visually oriented culture. (97) As long as the status quo remains, the abortion rate will always be high. A common exercise in genetic counseling classes involves asking students whether or not they would choose the traits of their child if they had the option. Furthermore, if they did have the option, would they choose for their child to be taller or shorter, lower or higher body fat, attractive or unattractive features, athletically gifted or intellectually talented, or neither and so on. (98) Almost always students say they would choose their child's traits and that they would choose the more socially advantageous traits. (99) This shows the students value physical appearance, intellectual ability and cosmetic attributes. The root of the problem is that we as a society value some things more than others. More likely than not, children with Down Syndrome do not tend to be thought of as having the above attributes that appear to be desired by parents and the vast majority of society. (100) This problem will not be solved until we as a society accept people who are differently abled and demonstrate that acceptance in our choices and values.
The Negative Perceptions of Persons with Disabilities
It is estimated that 19.7 percent of people in the United States have characteristics that are considered disabilities. (101) With such a large percentage of people with disabilities in the United States, one might think discrimination against persons with disabilities would be non-existent. Unfortunately, this is not the case.
In passing the Americans with Disabilities Act in 1990 (ADA), Congress recognized that millions of the nation's population continued to be treated differently and pejoratively by the non-disabled majority: "Individuals with disabilities are a discrete and insular minority who have been subjected to a history of purposeful unequal treatment, and relegated to a position of political powerlessness in our society resulting from assumptions not truly indicative of the ability of such individuals to participate in, and contribute to, society." (102)
The disadvantages associated with impairments have their source in pervasive attitudes of contempt and disrespect. (103) Like people of color, people with disabilities are not regarded as equals by the larger society, and the disadvantages they face reflect their devaluation. (104) Professor Run Amundson explains the devaluation as follows: "Rehabilitation literature is full of examples of how able bodied people think of disabled people not as having specific disabilities, but as being generally incompetent. This social image reinforces the illusion that global disadvantages and handicaps flow from nature itself." (105) In turn, the prejudice against people with Down Syndrome because of their social incapacitation provides an excuse to reject the demands of persons with Down Syndrome for the kinds of environmental modifications that would increase their access to resources and would further their goals. (106) Like the myths that burden women and ethnic minorities, the myths about persons with Down Syndrome are self-supporting.
Attitudes toward congenital disability have not changed markedly Both premodern as well as contemporary societies have regarded disabilities as undesirable and to be avoided. Not only have parents recognized the birth of a disabled child as a potentially divisive, destructive force in the family unit, but the larger society has seen disabilities as being unfortunate. Polls reveal that most Americans support abortion where a fetus has a severe genetic abnormality. (107) Our society still does not tolerate the elimination of diseased/disabled people, but it does urge the termination of diseased/disabled fetuses. (108) The urging is not explicit, but implicit. The dominant culture appears to be moving in two contradictory directions: more accommodating of disabilities in adults, but less tolerant of imperfections in children. (109)
The disability rights critique of prenatal testing has been formulated as follows:
(1) Continuing, persistent, and pervasive discrimination constitutes the major problem of having a disability for people themselves and for their families and communities. Rather than improving the medical or social situation of today's or tomorrow's disabled citizens, prenatal diagnosis reinforces the medical model that disability itself, not societal discrimination against people with disabilities, is the problem to be solved.
(2) In rejecting an otherwise desired child because they believe that the child's disability will diminish their parental experience, parents suggest that they are unwilling to accept any significant departure from the parental dreams that a child's characteristics might occasion.
(3) When prospective parents select against a fetus because of predicted disability, they are making an unfortunate, often misinformed decision that a disabled child will not fulfill what most people seek in child rearing, namely, "to give ourselves to a new being who starts out with the best we can give, and who will enrich us, gladden others, contribute to the world, and make us proud." (110)
Furthermore, disability rights advocates argue that prenatal testing is being justified by mistaken assumptions about the quality of life of people with disabilities, and is demeaning to existing people with disabilities. Disability rights advocates argue that these assumptions are mistaken for several reasons:
(1) They fail to recognize the extent to which the disadvantages associated with impairments result from discriminatory attitudes and practices rather than anything intrinsic to the impairment.
(2) They place unwarranted emphasis on the size of one's opportunity range rather than the possibility for meaningful choice and rewarding outcomes within that range.
(3) They confuse the claim that having a capacity, skill, or experience is good, with the claim that lacking a capacity, skill, or experience is inevitably bad. This confusion is due in part to the failure to distinguish the absence from the loss of a skill, capacity, or type of experience, and in part from the overly-narrow description of what is good or valuable. (111)
The above three points contribute to a negative view of persons with disabilities held by society. Down Syndrome is one of the most readily apparent types of disabilities because the physical characteristics are recognized by most members of society. However, one of the largest contributors to this negative view of Down Syndrome is the prevalence of prenatal genetic testing. A large number of abortions are performed for medical reasons. However, obstetricians say several factors are most likely contributing to a growth in the frequency of terminations occurring after prenatal genetic testing, including broader availability of new screening technologies and more pregnancies among women over 35, who are at greater risk of carrying a fetus with chromosomal abnormalities. (112) Moreover, as genetic testing becomes more prevalent, and the public becomes more aware that testing is both available and reasonably accurate, society may reject or otherwise discriminate against children who are born with disabilities and the women who chose to have them. (113)
Disability rights advocates argue that the medical establishment is sending a message to patients that the goal is to guard against the birth of children with disabilities. (114) Professor Adrienne Asch has said, "By putting them out there as something everyone must do, the profession communicates that these are conditions that everyone must avoid." (115) Furthermore, Asch has stated, "[T]he earlier you can get it done the more you can get away with because you never have to tell anybody." (116) Terminating a pregnancy based on non-life threatening defects is causing some doctors to become troubled by what they consider to be a slippery slope from prenatal science to eugenics. (117)
The moral quandary we find ourselves in challenges the ideal of unconditional love of a child against the reality that most of us would prefer not to have that unconditional-love relationship with a certain subset of children. Adrienne Asch says, "I think the reason that this topic is as loaded and painful as it is, is that prospective parents want to think that they are open to loving whomever comes into their families, and they don't want to think that they aren't." (118) What is even more problematic is that people with Down Syndrome are described as having "warm, loving personalities and enjoy[ing] art and music." (119) Some parents claim Down Syndrome children are easier to raise than their unaffected children. (120) Because children with Down Syndrome are apparently happy, preventing their birth can hardly be justified as a means of preventing suffering and this makes it more difficult for prospective parents to rationalize the abortion of a child with Down Syndrome. (121)
Many women abort a fetus with Down Syndrome despite their views on abortion. (122) This raises an interesting and yet critical point. Woman may distinguish the political question of abortion in law and public policy from abortion as a personal moral choice. (123) The political question of abortion is when, if ever, it is permissible to destroy human pre-born life. (124) The personal moral choice of abortion may turn on an infinite number of other questions such as: (1) Do I have the financial resources to support a child with special needs; (2) Where will this child go to school? (3) Will my family accept this child; and (4) How will this child affect my life? (125) Some argue that a desire not to have a child with special needs is based on prejudice. (126) Others claim that a choosy attitude toward fetuses brings a consumerist attitude to childbearing and undermines the moral stature of the family. Still others maintain that the act of aborting children with special needs drags us into a moral abyss, but raising children with special needs enhances our humanity. (127) The arguments result in two opposing views: (1) Prenatal testing is morally questionable because it leads people to reject fetal life because of a single trait, their disability, and (2) A "healthy" newborn is the best outcome for any parent and no reasonable person would choose disability over normalcy if they have the ability to choose based on prenatal testing. Aborting fetal life because of its below average intellectual or physical ability may be morally acceptable to some people, but aborting a fetal life for non-disabling conditions, e.g., gender, may be morally unacceptable to those same people. (128) The difference is hard to discern from a moral standpoint. If someone believes that abortion is not justified for gender selection or other genetically determined traits within the "normal" range, why should it be justified for other genetically determined traits, such as Down Syndrome or dwarfism, just because such conditions are statistically less common and deemed "abnormal." (129)
Disability rights advocates are right to think of genetic counseling as a search and destroy mission because testing will likely ultimately lead to greater intolerance of disabilities and less money for research or treatment. Some doctors do not want to perform abortions when fetuses have relatively minor defects. (130) At the same time, genetic counselors are right to pursue what is a necessary job, counseling and helping families make the best decision for themselves. (131)
What adds to the problem is the fast growth of the medical genetics field. As a result of this fast growth, the evolution of enforceable legal regulations and the formulation of widely understood and accepted ethical policies have lagged behind rapid developments in technology. (132) The result is a medical genetics field that is loosely regulated.
While individuals may not have the necessary resources to adequately care for people with special needs, society does. Because society has greater resources to provide for children with special needs, it does not have the rationale that some pregnant women may have for genetic testing and abortion of fetuses whose subsequent care may be impossible for them to provide. (133) But there are those in society that want to reduce the cost of care by eliminating or at least reducing the numbers of people with disabilities by encouraging genetic testing and the abortion of fetuses that test positive for Down Syndrome. (134) That this rationale has been effective seems clear from the fact that most women who are told that their fetus has this anomaly choose to abort it more quickly than when they are given other fetal diagnoses, some of which have more devastating medical consequences. (135) The desire for a "normal" or "better" child contributes to the stigma that people with Down Syndrome live with. Many factors contribute to the social attitude of society and its overall negative impact on persons with disabilities. One thing is clear, this negative view of Down Syndrome will not change until we begin to accept those who are differently abled.
Contrasting the Roles of Physicians and Genetic Counselors
The medical community also contributes to the high abortion rate for fetal life with Down Syndrome. It is important to understand the different roles of doctors and genetic counselors in the prenatal process. Typically a woman makes an appointment to see her doctor as soon as she has a positive pregnancy test result, which could be a week after conception or several months. After the first two months of pregnancy, many of the tests discussed in this article would be inaccurate and, thus, would not be offered. (136)
There are several types of medical providers. First, and most well known, are obstetrician-gynecologists, also known as OBGYN's. OB is short for obstetrician, a doctor who specializes in pregnancy, delivering babies, and gynecology. (137) They may have low or high risk patients. These doctors usually work in the hospital setting, although many are opening birthing centers, and a few do home deliveries. GYN is short for gynecologist, a physician who specializes in treating diseases of the female reproductive organs. (138) Second, family practitioners may specialize in family care, including pregnancy and delivery. (139) They usually consult with an obstetrician on surgical cases. They practice in hospitals, birthing centers, and home delivery settings. (140) Third, nurse midwives are nurses with training in low risk pregnancy and delivery (about 90% of births fall into this category). (141) They practice in conjunction with physicians. They may practice in home, hospital or birthing center settings. (142) Fourth, perinatologists are doctors who specialize in managing high risk pregnancies. (143) About ten percent of pregnancies fall in this category. (144) These physicians practice in hospital settings, usually in conjunction with a Level III nursery. And fifth, non-nurse midwives who have special training in midwifery only, limit their practice to women with low risk pregnancies and deliveries. (145) Midwives may consult with physicians, and they usually practice in home delivery settings or birthing centers. (146)
Doctors typically make the offer for genetic testing in both the first and second trimester, which may be dictated by the desire to avoid legal liability that may result from the unexpected birth of a child with disabilities. (147) Patients see genetic counselors because they are referred by their physician or are self referred. (148) Most people who provide genetic counseling are not genetic counselors but obstetricians, because there are few genetic counselors in many places, especially rural areas. Fewer referrals occur because of this and as a result, obstetricians and primary care physicians provide genetic counseling to their patients. (149) However, this is a problem because these professionals are not as well equipped to deal with substantive genetic counseling issues. (150) In urban areas, there are typically more referrals because urban areas have greater medical resources and there is typically more insurance coverage because of the increased referrals, (151) Furthermore, many women only see a genetic counselor if they have an abnormal test result (152) Some doctors refer all pregnant patients prior to any testing for counseling, education sessions, test coordination, and explanation of results. (153) However, it is standard for a doctor to refer a woman to a genetic counselor after the test results have been reported for clarification of what the test results mean. (154) Physicians typically do not have the time to explain the risks and benefits, what the detection rates are, and the procedures. (155) Most obstetrician-gynecologists spend about eight minutes with their patients per session (156) Most genetic counselors spend about forty minutes with their patients per session. (157)
Doctors do not receive as much training in genetics as genetic counselors. The amount of genetics taught in a typical medical school is only one week or one course. (158) Moreover, genetics is not taught in every medical school. (159) The likely result is many doctors are ill equipped to discuss genetic issues. (160) Medical schools should offer more genetic counseling instruction since many doctors will recommend genetic testing as a common part of their medical practice. It is very typical for the initial genetic screening to be performed in the doctor's office, the results being given to the patient in the same office, as well as the patient referral to a genetic counselor, all without any detailed explanation by the doctor. (161) As a result, women tend to come into a genetic counselor's office ill equipped and uninformed. (162) Moreover, some women may never see a genetic counselor because of financial constraints. (163) Insurance companies often reimburse for diagnostic tests at far higher levels than for pretest counseling--if they reimburse for counseling at all. (164) As a result, fiscal concerns might lead practitioners to push for testing rather than genetic counselor referrals.
An important function of genetic counseling is to assist parents who have a fetus with a genetic anomaly to deal with the implications of the diagnosis for the child, the family, and additional children that may be conceived in the future. (165) Genetic counselors seek to be culturally sensitive, personally sensitive and to let people make their own decisions by being non-directive. (166) They try to tell everyone similar information and let them make their own choice. Other health professionals have less training in nondirectiveness than genetic counselors, and are therefore more likely to be directive and to incorporate their own values and judgments in the counseling process. (167) In general, physicians with training in genetic counseling are more directive in their counseling style than genetic counselors. (168) Physicians without such training are even more so. (169) As a result, many patients choose prenatal testing in part because their physician has recommended or even encouraged it. Non-genetic health professionals tend to make such recommendations partly because "the idea that one would not want information is so counter to the medical professions world view." (170) While genetic counselors tend to accept a broad range of reasons for rejecting prenatal testing, physicians are more inclined to encourage testing, unless the patient has a history of infertility or miscarriage. (171) One major reason genetic counseling should be offered in medical schools is to inform physicians about the non-directive goals of genetic counseling and educate them on the wide range of functioning that people with genetic anomalies experience. (172)
The choices health professionals offer are typically: (1) an initial genetic screening; (2) additional diagnostic testing; (3) and support if they chose to abort or to continue the pregnancy. (173) But what is frequently missing from this process is the delivery of comprehensive information on genetic anomalies, resulting range of possible disability, and the support services available in the community. (174)
In prenatal genetic testing counseling, the genetic counselor typically begins by explaining that all pregnancies have a three to five percent population risk of birth defects, regardless of family history. (175) The counselor then describes the patient's particular pregnancy risk. (176) Next, the counselor describes the information that tests can provide, their limitations--not all conditions can be identified--and the health risks to the patient. (177) Finally, during the screening and counseling process, the genetic counselor works closely with the physicians on a health care team. (178) Contact with community support services or similarly situated women or families is not required. (179) Of course, some patients may independently obtain information about community services for Down Syndrome children from national or local Down Syndrome organizations, or from the Internet. (180)
The American Academy of Pediatrics recommends that the medical professional discuss the following topics with the family:
1. The prenatal laboratory or fetal imaging studies leading to the diagnosis.
2. The mechanism for occurrence of the disorder in the fetus and the potential recurrence rate for the family.
3. The prognosis and manifestations, including the wide range of variability seen in infants and children with Down Syndrome.
4. When applicable, additional studies that may refine the estimation of the prognosis (eg, fetal echocardiogram, ultrasound examination for gastrointestinal malformations).
5. Currently available treatments and interventions. This discussion needs to include the efficacy, potential complications and adverse effects, costs, and other burdens associated with these treatments. Discuss early intervention resources, parent support programs, and any plausible future treatments.
6. The options available to the family for management and rearing of the child using a nondirective approach. In cases of early prenatal diagnosis, this may include discussion of pregnancy continuation or termination, rearing the child at home, foster care placement, and adoption. (181)
If the pregnancy is continued, a plan for delivery and neonatal care must be developed with the obstetrician and the family. Also, a referral to a clinical geneticist should be considered, if it has not already been considered, for a more extended discussion of clinical outcomes and variability, recurrence rates, future reproductive options, and evaluation of the risks for other family members. (182)
Prenatal genetic screening is being largely left to the discretion of the medical profession and is being performed for the benefit of prospective parents, not their fetuses. (183) Prenatal genetic screening is about "offering prospective parents difficult choices regarding the sacrifices they are willing to make to be parents, what mental and physical characteristics their children will have, and what kind of lives they want their children to have at a time when abortion is still an option." (184) The assumption underlying voluntary genetic screening is that prospective parents will be given information and be allowed to act on that information. (185) The choices created through prenatal genetic screening (whether to undergo genetic testing, which tests to run, the option to end a pregnancy based upon a broader spectrum of test results) will expand along with prenatal testing capability. (186) Today, the two options given to prospective parents who receive genetic screening results indicating a genetic abnormality are: delivering a child with a known impairment or propensity for being unhealthy, and aborting the child. (187) The care provided by OBGYN's, family practitioners and genetic counselors will contribute to the choice women make.
The Role of Genetic Counselors
Even though genetic counselors are not the first persons women see in the prenatal process, they play a major role because they are frequently the most knowledgeable source of medical information on genetic anomalies for pregnant women and their families. (188) The genetic counselors I interviewed all agreed that the women and their families who come for genetic counseling typically understand little about what a genetic counselor does, the training they receive, their professional standards of conduct, medical guidelines for prenatal diagnosis, and ultimately their function as a whole. (189) This section will provide information about genetic counselors, the people who need and use their services, their professional guidelines and standards of conduct, clinical approaches, and the process of genetic counseling. This section will discuss the new prenatal guidelines genetic counselors follow and whether those new guidelines are necessary.
The National Society of Genetic Counselors (NSGC) says that genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. (190) NSGC asserts that the genetic counseling process involves an attempt by one or more appropriately trained persons to help the individual or family to:
(1) comprehend the medical facts, including the diagnosis, probable course of the disorder, and the available management; (2) appreciate the way heredity contributes to the disorder, and the risk of recurrence in specified relatives; (3) understand the alternatives for dealing with the risk of occurrence; (4) choose the course of action which seems to them appropriate in view of their risk, their family goals, and their ethical and religious standards, to act in accordance with that decision; and (5) to make the best possible adjustment to the disorder in an affected family member and/or the risk of recurrence of that disorder. (191)
Genetic counselors are health professionals with graduate degrees in the areas of medical genetics and counseling. (192) They work as members of a health care team, providing information and support to families who have family members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions. (193) They provide supportive counseling to families, serve as patient advocates and refer individuals and families to community or state support services. (194) Furthermore, they "identify families at risk, investigate the [genetic anomaly] present in the family, interpret information about the disorder, analyze inheritance patterns and risks of recurrence and review available options with the family." (195) Most enter the field from an array of disciplines that includes biology, genetics, nursing, psychology, public health and social work (196) They serve as educators and resource people for other health care professionals and for the general public. (197) Some counselors also work in administrative capacities. Many engage in research activities related to the field of medical genetics and genetic counseling. (198)
Professor Gettig believes that patients who might have a child with Down Syndrome typically see genetic counselors at two primary points: (1) prenatal testing to determine whether or not the baby has Down Syndrome or (2) after delivery, to diagnosis a child with Down Syndrome and provide information on the available educational and health programs needed for children with Down Syndrome. (199)
Similarly, Professor Carolyn Lee Brown argues genetic counseling actually consists of three stages: the patient-counselee must directly approach or be referred to the genetic counselor; the genetic counselor must obtain all necessary information to allow for a proper diagnosis; and, ultimately, the genetic counselor must communicate his diagnosis to the patient-counselee. (200)
Genetic counseling is typically advised for: (1) Pregnant women who will be 35 years old or older at delivery time (however the guidelines have changed, see infra Genetic Counseling Guidelines and Professional Standards of Conduct); (2) Individuals who are known to be at risk for carrying genetic disorders; (3) Parents of a child with a genetic disorder, birth defect or mental retardation; (4) Individuals who have had a laboratory test indicating an increased risk for a genetic disorder; (5) Individuals diagnosed with a birth defect or mental retardation, or who have a family history of a genetic disorder; (6) Individuals of ethnic groups in which particular inherited diseases are more common; (7) Individuals or couples who have had multiple miscarriages or pregnancy losses; and (8) Women exposed to certain medications or drugs, significant radiation, and/or particular infections during pregnancy. (201)
Genetic Counseling Guidelines and Professional Standards of Conduct
A genetic counselor must earn a masters degree from a genetic counseling/ human genetics program accredited by the American Board of Genetic Counseling. (202) Most genetic counselors are board-certified. (203) Most counselors enter a genetics program with an undergraduate degree in science, psychology, or genetic counseling. (204) Each program has slightly different prerequisites and course requirements. However, they are all based on developing specific competencies in genetic counseling. (205) Similarly, numerous nurse-counselors and social workers do genetic counseling. In the past, counselors without master's degrees were eligible for board certification, but since the mid-1980s, a master's degree in genetic counseling is required. (206)
There are two medical organizations that govern genetic counselors: the American Board of Genetic Counseling (ABGC) and the National Society of Genetic Counselors (NSGC). The ABGC certifies genetic counselors and accredits genetic counseling training programs. (207) Graduates of these programs must also pass a certifying examination administered by the Board. (208) Genetic counselors that have passed their certifying examination practice in a variety of settings, including hospitals, private offices, laboratories, federal and state government offices, universities, and research facilities. (209)
The NSGC is the professional membership association for the genetic counseling profession. (210) Because they offer educational programs, it would be considered a conflict of interest for them to administer the Board exams. (211) In 1991, the NSGC adopted a professional code of ethics entitled "Genetic Counselors and their Clients," which discusses the need to respect clients' backgrounds and cultural beliefs. (212) If someone violates the NSGC code of ethics or any published practice guidelines, they may lose their certification. (213) If a complaint is filed, the issue is reviewed and the review committee of ABGC renders a decision. (214) According to the NSGC, the average counselor sees about 450 patients per year, with a range of 200 to 1000. (215)
Regarding guidelines, another major consideration needs to be the new professional standard of conduct. Before January 1, 2007, the majority of pregnant American women 35 years of age or older were offered amniocentesis. (216) It has become standard practice for women older than 35 to be offered genetic counseling and diagnostic testing. (217) Yet, women under the age of 35 have higher fertility rates and account for 80 percent of children born with Down Syndrome. (218) Therefore, the new American College of Obstetricians and Gynecologists guidelines recommend that all pregnant women, regardless of age, be offered such counseling and testing. (219) Whether it is good policy to test all women in order inform them whether they are carrying a fetus with a chromosomal anomaly must be judged in the light of the risks to their health, options for treatment, especially of possible life-threatening conditions, and the benefits of knowing in advance that a child with special needs may be born. If the benefits of such testing exceed the risks, then expanding the prenatal guidelines to include all women may be necessary. (220)
Many older pregnant women know before they are even pregnant that they will be offered, or even urged, to undergo amniocentesis or another genetic screening if they become pregnant. While women may not know what amniocentesis entails or are confused as to what the test results mean, they know that they are in a high-risk category by virtue of their maternal age alone. (221) In contrast, younger women do not consider themselves to be in a high-risk category (222) In the past, younger women were only referred for prenatal tests if they had a family history of hereditary disease, or if genetic screening suggested a need for diagnostic testing. (223)
Research is being conducted on the cost-effectiveness of having every pregnant woman in the United States undergo prenatal genetic testing. (224) Currently, medical science has no treatment for Down Syndrome itself, but may provide treatment for certain conditions that frequently accompany it. While diagnosing Down Syndrome before birth permits or even encourages parents to choose abortion, it also permits those parents who accept a child that is differently abled to prepare for the arrival of a child with special needs. As more is learned about genetic anomalies, more genetic tests will be recommended. (225) Obstetricians and gynecologists may be adopting policies that have the effect of increasing abortion for genetic anomalies. (226) Is this the result of informed consent, or a reflection of our bias against people with disabilities?
Non-directiveness: The Unattainable Ideal
A major tenant of genetic counseling is non-directiveness. Genetic counselors are taught to be: educational, nondirective, unconditional, and supportive. (227) The Code of Ethics states that counselors should strive to: (1) seek out and acquire all relevant information required for any given situation; (2) continue their education and training; (3) remain aware of current standards of practice; and (4) recognize the limits of their own knowledge, expertise, and therefore competence in any given situation. (228) With regard to their relationship with their clients, counselors should strive to: "(1) enable their clients to make informed decisions, free of coercion, by providing or illuminating the necessary facts and clarifying the alternatives and anticipated consequences, and (2) refer clients to other competent professionals when they are unable to support the client." (229)
The hallmark of genetic counseling is nondirectiveness. (230) Nondirective, or client-centered, counseling is the process of skillfully listening to a client, encouraging the person to explain his or her concerns, helping the client to understand the relevant issues, and determine a course of action. (231) This type of counseling is "client centered" because it focuses on the client, rather than on the counselor. The counselor primarily listens to and tries to help the client discover and follow improved courses of action. (232) They especially "listen between the lines" to learn the full meaning of their client's feelings. (233) They look for assumptions underlying the counselee's statements and for the events the counselee may, at first, have avoided talking about. Counselors often say a person's feelings may be likened to an iceberg. (234) The feelings and emotions expressed by the patient may be only the "tip" of the iceberg. Underlying these expressed feelings and emotions lay the ultimate dilemma to be faced by the patient, which the patient is almost always reluctant to reveal.
Despite their commitment to nondirectiveness, genetic counselors may subtly promote prenatal testing because of values they hold dear. (235) As stated earlier, medical professionals are not neutral about the value of information, and the view that gathering of information as a sign of responsible behavior and good decision making. (236) Moreover, genetic counselors and patients tend to believe that getting information about the fetus is not only the right thing to do, but a form of reassurance and a way to get a sense of control over the potentially overwhelming experience of reproduction. (237) Also, some popular books have linked the notion of good parents with prenatal testing. (238) Professor Surer has suggested that more genetic counselors hold stronger views about the "rightness" or "wrongness" of abortion for genetic anomalies and its effect on the overall makeup of society than do most physicians. (239)
Most genetic counselors attempt to achieve the goal of nondirectiveness yet there are countless stories of those who do not. As a result, genetic counselors are not without fault. Although they are supposed to be nondirective, many people simply cannot make a decision. Professor Getting, among other genetic counselors, has experienced women continually asking questions such as, "What would you do in my situation?" (240)
How directive is it to talk patients through the decision-making process? "Talking through" means discussing the things the genetic counselor would consider important and that others have considered important, such as: How stable is the patient's marriage? Is the patient financially capable of raising this child? Is the patient's job flexible enough to handle a child with special needs? Should the patient stay at home instead? Will the patient psychologically and physically be able to handle the special needs of this child? What would it be like to raise this child? How would the child affect the patient's other children? What is the patient prepared to do and not do for the special needs, both physical and psychological, of this child? (241)
Is the above directive or non-directive? It appears the questions asked show value judgments and concern on the part of the genetic counselor. Many genetic counselors believe they can achieve nondirectiveness through consciously being aware of their word choice, body language and maintaining an awareness of the gravity of the information being shared. (242) Furthermore genetic counselors argue that being nondirective does not mean that you cannot give directions to people, and distributing information on genetic screening to people is not directive because the patient can chose whether or not to follow those guidelines. (243) Although much discussion has occurred regarding nondirectiveness, there does not appear to be any exact guidelines regarding what is and what is not nondirective. (244) The end result is although most genetic counselors may consciously attempt to be nondirective by remaining nonjudgmental and refraining from imposing their beliefs and values, the very words they use and questions they raise may subtly influence the patient's decision more than they realize.
Nondirectiveness, as described in the literature, (245) may oversimplify how counselors understand the counseling experience and it may ignore the very real possibility that genetic counselors do not share a uniform understanding of nondirectiveness. (246) Indeed, no good empirical data exists regarding what nondirectiveness really means to genetic counselors. (247) Moreover, the traditional account of nondirectiveness tends to describe a process that is potentially incoherent or inconsistent in some respects. (248)
While striving to achieve nondirectiveness is the correct approach, it is impossible to advance one moral viewpoint over another (i.e., deference to technology, knowledge and the like) and be neutral toward all moral viewpoints. Professor Christy A. Rentmeester, Ph.D. (249) said it this way, "Despite the best efforts of a counselor to convey "value neutral" facts, risk assessment by the counselee and family is done according to normative analysis, experience with illness, and definitions of health. Each of these factors must be known by the genetic counselor in order to relate those facts which she acknowledges as relevant to the decisions that will be made by those people seeking the genetic information. In the expression of genetic risks, the authority of medical language impacts a person's understanding of epidemiological data." (250) Moreover, the strong values genetic counselors place on knowledge, information and technology likely reinforces the public's acceptance and expectation of prenatal testing. (251) Thus, even a genetic counselor's best effort to be nondirective has some elements of directiveness.
Contrasting the Differences Between Genetic Screening and Diagnostic Testing
It is also important to understand the difference between genetic screening and diagnostic testing. To a layperson, the difference between genetic screening and a diagnostic test is subtle. Professor Gettig states that in her experience, pregnant women, at least prior to their genetic counseling session, often find it perplexing to distinguish between the two terms and the medical community has a difficult time communicating the difference. (252) The main point is the genetic screening is 80% accurate and is used to identify those pregnancies that are in a higher risk category, and the genetic diagnostic test is 99.9% accurate and can determine whether a specific diagnosis can be made.
Professor Gettig, among other genetic counselors, believes that many women, when told on the basis of genetic screening that their child "has a higher risk of' Down Syndrome, hear, "my child has Down Syndrome." (253) This assumption is almost always incorrect given the statistical realities. The initial genetic blood test is simply a preliminary screening to determine whether a woman's risk of having a baby with Down Syndrome is higher than that of the general population. (254) In essence, the blood screening indicates that the child may have Down Syndrome. The blood screen yields a positive result in about 80% of the cases where children are born with Down Syndrome. (255) And if a positive screening result is received, physicians recommend that a woman have further testing to determine whether her child has Down Syndrome. (256) As Professor Gettig explains, at this point, a woman is typically referred to a genetic counselor who explains the woman's options and if she desires, a physician who performs the diagnostic test, which is 99.9% accurate. (257) In Professor Gettig's professional experience, many women at this initial stage say they do not want to know whether the child has Down Syndrome and do not go through with further testing. When a woman has had a positive genetic screening result for Down Syndrome, she must have a genetic diagnostic test to know for sure whether the child has Down Syndrome. The percentage of women that do not choose to have the blood test is unknown.
A lot of women choose the blood screening because there is no risk or danger to the baby. Rather, a blood sample is taken from the mother. (258) The maternal serum first trimester blood test correctly yields a positive result indicating an increased risk for Down Syndrome in about 80% of the women whose fetus actually has that condition. (259)
The genetic screening produces inconclusive results and thus presents the initial challenge to patient understanding and justification for genetic counseling. First, it is a genetic screening, which means it is an estimation of the likelihood one's fetus has a genetic anomaly. (260) It is designed to detect pregnancies that are at higher than average risk for certain chromosome differences, birth defects or genetic conditions. (261) Thus, an abnormal screen does not indicate that a fetus is affected, only that the chance for the fetus to have a certain condition is higher than average. (262) Maternal Serum Alpha-Fetal Protein (MSAFP) levels can be elevated for reasons other than neural tube defects, such as "erroneous estimations of gestational age, multiple pregnancies, increased risk of premature delivery, fetal death and other abnormalities." (263) Moreover, in Professor Gettig's professional experience, in over half of the cases, when a woman has an elevated blood level it is because the wrong gestation dates were used. (264) The blood tests must be conducted during a specific period of gestation or the results may be incorrect. (265)
Second, women and their families have particular difficulty understanding that, by its very nature, genetic screening may give both false positive and false negative results. These concepts in medical terms are referred to as specificity and sensitivity. Specificity refers to the proportion of people without disease who have a negative test result. (266) Conversely, sensitivity refers to the proportion of people with disease who have a positive test result. (267)In the attempt to maximize the specificity number, which in turn will decrease the number of false negatives, the genetic screening will unfortunately produce lower sensitivity, resulting in increased numbers of false positives. (268) Thus, women who receive an abnormal (positive) MSAFP3 result need to consider the possibility that their result could be a false positive when deciding whether to follow up with amniocentesis, which is an invasive diagnostic procedure.
Third, most doctors recommend that an ultrasound be performed to estimate the age of the fetus, identify or rule out some physical birth defects and to improve the safety and accuracy of a CVS or amniocentesis sampling. (269) If there are abnormal results or an ultrasound provides no explanation for elevated levels, or if desired, an amniocentesis is recommended. (270) Only about five to ten percent of those who undergo amniocentesis will have elevated amniotic AFP levels, most of which are associated with neural tube defects. (271) Although 70-90% of fetuses with neural tube defects can be identified through MSAFP screening, the vast majority of pregnancies with positive (elevated) MSAFP levels will not have a fetal abnormality. In other words, the false positive rate is quite high. (272)
Fourth, a rarely found chromosomal rearrangement might be detected, the prognosis for which is uncertain, and the child may be completely unaffected or it might suffer some complications or abnormalities. Even relatively straightforward diagnoses provide only limited information. (273) An amniocentesis result of 47, XY,+21, indicates only that the fetus is male and will have Down Syndrome. (274) It cannot predict how severely diminished the child's mental capacity will be or whether the child will have heart defects, intestinal obstructions, or other complications. (275) And a woman who receives the good news that a child has all forty-six chromosomes with no anomalies still faces a three to five percent baseline risk of birth defects. (276) Even with diagnostic testing, there is no assurance that the child will not have undetectable forms of mental retardation, blindness, deafness or susceptibility to serious childhood illnesses.
In summary, prenatal diagnostic screening and testing offers some information, but far from the complete predictive picture many patients imagine. (277) None of these medical procedures alone or in conjunction with other testing can offer the complete reassurance that many people want. Medical and genetic technologies are not perfect, and testing results must not be viewed as completely accurate. In spite of these limitations, providers, patients and the public tend to rely on medical knowledge as the most accurate knowledge one could acquire about the fetus. This reliance is dangerous because genetic technologies are far from perfect and the false assumption that these technologies are completely accurate may lead women to abort normal fetuses. (278)
While abortions are not performed by physicians until diagnostic testing is completed, which in theory prevents the possibility that a woman will make a decision based solely on a false positive genetic screening result, abortion is legal in the United States and nothing prevents a woman from choosing to abort the fetus without taking advantage of genetic counseling. (279) It is unclear how often such women elect to have an abortion at an abortion clinic without receiving genetic counseling because such statistics are typically not kept at abortion clinics. (280) The fact that many women choose to receive genetic counseling may indicate that the pregnancy is wanted and desired, (281) and an openess to accepting a child with special needs.
Human Error: Genetic Counselors, Family Doctors, Obstetricians and Gynecologists
Women who have seen a genetic counselor or medical geneticist before making a decision regarding abortion are more likely to continue the pregnancy. (282) One of the reasons for this may be that genetic counselors try to be nondirective, i.e., let patients make decisions themselves and do not tell the patient what to do. (283) Whereas, non-genetics professionals, such as obstetricians, tend to be directive, i.e. tell patients what to do or make recommendations. (284) Some doctors believe that delivery of a child that is abnormal reflects poorly on them, and thus encourage patients to abort. (285) The goal of these physicians is to ensure that the woman and her potential child are both healthy; to many, accomplishing that goal may require testing and or abortion of an affected fetus. (286) Some individuals report that they feel pressured by physicians to undergo prenatal testing and to abort when the result is positive. (287) Given the trust and respect that pregnant patients typically have for their physicians, and the woman's dependence on him or her for care, women may feel pressure to follow the physician's advice. (288) The above may contribute to a high abortion rate if patients simply do what their doctors tell them and avoid asking questions. (289) To the extent that this is so, prenatal testing and termination of affected fetuses cannot be considered morally justified because the decision lacks individual decisionmaking and real informed consent. (290) The physician and the patient bear equal responsibility for correcting this situation.
Genetic counselors have been described as more committed to patient autonomy than most other healthcare providers. (291) The focus on informing patients about the technical aspects of prenatal testing and genetic diseases as well as the commitment to nondirectiveness reflects a desire of many genetic counselors to help patients make decisions that are "intentional, substantially noncontrolled, and based on substantial understanding." (292)
There is wide agreement that patients who receive results from genetic testing also must be offered counseling to adequately understand the implications of the test results. Indeed, in the Stanford Recommendations on Genetic Testing For BRCA, fifty percent of health care professionals surveyed bluntly stated that "genetic counseling is the linchpin of good care." (293) But releasing test results to uninformed or unprepared patients can cause serious psychological harm. Efforts must be made to increase the numbers of licensed and otherwise qualified genetic counselors available to consumers and to make their presence known so that physicians can give ready referrals. (294)
Even if the number of licensed genetic counselors is increased, human error can lead to incorrect results. (295) Even amniocentesis and CVS, highly accurate diagnostic tests, are not infallible. For example, a few medical professionals argue that the testing is not very complicated, yet they concede errors still exist. (296) Furthermore, some medical professionals argue Down Syndrome seems to be associated with aging eggs so it is not clear there needs to be a lot of counseling. (297) Knowing this fact might encourage women to not try again, try again or to try assisted reproduction depending on their viewpoint. (298) This is just one example of both directiveness and human error.
A lack of nondirectiveness is another type of human error. The profession's commitment to nondirectiveness would suggest that genetic professionals are merely responding to social demands and desires, rather than shaping them. (299) By refusing to direct clients toward a particular decision, counselors seem removed from influencing prenatal testing. (300) Although nondirectiveness may support patient autonomy, (301) genetic counselors are far from neutral about many aspects of genetic counseling. (302) In other words, many deeply held values shape their approach to genetic counseling. (303)
For example, genetic counselors are not neutral about the value of nondirectiveness. Even as the profession's understanding of the term evolves and the notion has come under recent attack, most genetic counselors defend the approach vigorously. (304) Counselors defend nondirectiveness on several grounds: 1) the duty to protect patient autonomy; 2) the inability to know what the "best" decision is for someone else; 3) the conviction that nondirectiveness is good for patients; and 4) less frequently stated, the patient's responsibility to make decisions. (305) Genetic counselors feel so strongly about these rationales that they can be quite directive about how patients should approach decisionmaking, even though they try not to direct the decision itself.
The fact that counselors try to influence the process, as opposed to the decision, however, can subtly and unintentionally influence the decision itself. (306) The genetic counselor's deep and abiding interest in protecting patient autonomy can sometimes translate into a belief that the client has a "right and responsibility" to decide for herself. (307) Many genetic counselors are uncomfortable with patients who want to abdicate the role of decisionmaking. (308) By trying to urge patients to decide for themselves, counselors might be understood as urging information gathering.
In addition, whether genetic counselors actually believe genetic testing or termination of affected pregnancies is the right for everyone, the majority of genetic counselors have such preferences for themselves. (309) These personal biases in favor of testing and termination may inadvertently and subtly be conveyed to patients, even among genetic counselors committed to nondirectiveness. (310)
Similar to genetic counselors, most health-care professionals think that being informed and prepared is better for families that have children with disabilities. (311) Other heath-care professionals favor prenatal testing because of their "bias toward termination" when abnormalities are found (312) and their belief that such terminations benefit the families and society. (313) The professional attitudes in favor of prenatal testing are often communicated to patients, directly or indirectly, which can lead to pressure to undergo such testing. Generally, genetic counselors try to hide any biases they might have in favor of or against prenatal testing, given their commitment to non-directiveness. (314)
Another problematic point is research suggests that counselors may steer patients toward, what has been described as, "starting again with a clean slate." (315) As Barbara Biesecker, director of the genetic-counseling training program at Johns Hopkins University, explains, "There's kind of a trend out there to call people at home and then just refer them back to the hospital"--meaning that the family who has learned that a fetus has a genetic disease is quickly referred to someone who will help get rid of it. (316) This, according to Biesecker, is "a cop-out." (317) Delivering the news on the phone, often without a spouse present, is, she says, "filled with assumptions about what's right for people--it assumes that they'll act," meaning abort. (318) Similarly, the use of the "clean slate" mentality was confirmed in the State of California. One California study has shown that in response to California's legal mandate requiring that a prenatal screening be offered, medical professionals provided limited, directive counseling, suggesting they were "more interested in persuading ... than informing patients." (319)
Compounding the problem, most of the news that genetic counselors provide to prospective parents about disabilities is negative and clinical. (320) Face-to-face meetings, which often occur before amniocentesis, tend to be filled with mini-science lectures about how chromosomes replicate or how trisomies occur, not the swirling emotions that surround the news that the baby in your belly may not be the baby you dreamed of having. (321) In an attempt to rectify the situation, Senators Sam Brownback, Republican of Kansas, and Edward Kennedy, Democrat of Massachusetts, last March sponsored the Prenatally Diagnosed Conditions Awareness Act, a bill designed to mandate that more positive information be given to parents about the life of a disabled child. (322) At a news conference to announce the bill was Brian Skotko, a Harvard Medical School student. Skotko published a paper in the American Journal of Obstetrics and Gynecology last spring based on his study, the largest and most comprehensive on prenatally diagnosed Down Syndrome. (323) It showed that obstetricians and genetic counselors failed to give expectant mothers who received a prenatal diagnosis of Down Syndrome encouraging data about raising a child with Down Syndrome. (324) One mother in Skotko's study reported that her genetic counselor "showed a really pitiful video first of people with Down Syndrome who were very low tone and lethargic-looking and then proceeded to tell us that our child would never be able to read, write or count change." (325)
One of the most disturbing issues surrounding genetic counseling is that geneticists and their obstetrician colleagues are deciding which fetuses are healthy, what "healthy" means, and indirectly, who should be aborted, and who should be born. (326) As a result, they are greatly influencing the patients' decisions to continue or abort, decisions that pregnant women themselves may not always be ready or capable to make. (327) To the extent that specialists' determine who uses prenatal diagnosis and for what reasons, geneticists will determine which conditions will be marginalized, treated or grounds for abortion. (328)
Genetic counselors and other medical personnel should be communicating to patients: reproduction options (the prenatal laboratory or fetal imaging studies leading to the diagnosis.); family support; positive and negative developmental and behavioral information (including the wide range of variability seen in infants and children with Down Syndrome); and the risk of recurrence. Moreover, genetic counselors and other medical personnel should advocate for support groups of all political backgrounds; long-term planning if the family decides to keep the child (discussion of pregnancy continuation or termination, rearing the child at home, foster care placement, and adoption); and when applicable, additional studies that may refine the estimation of the prognosis (e.g., fetal echocardiogram, ultrasound examination for gastrointestinal malformations). (329) All of the aforementioned should be done in a non-directive manner.
Another problem is the communication of results. A fair number of women come to genetic counselors misinformed. Moreover, some women have reported being upset when physicians provided detailed descriptions of pregnancy terminations without first knowing whether they would like to discuss those options. (330) Similarly, some women criticize physicians for delivering a diagnosis of Down Syndrome with phrases such as, "I'm sorry," or "Unfortunately, I have some bad news to share." (331) Professor Gettig stated that sometimes during their first appointment women do not know the exact purpose and reason for the counseling session and state something along the lines of, "my doctor told me to come." (332) This demonstrates the severity of the misinformation or lack of information some women receive from their physicians.
The failure to correctly inform patients undercuts the goals of genetic counseling--to help patients make decisions consistent with their values, beliefs, circumstances and life plans. At the same time, it is important to note that patients may say that they weren't told of certain risks like ambiguity in the test results. (333) Of course, there are patients who do not recall being told about these issues even when they have been covered. (334) There is also the chance that, because so much is raised during a session, the patient cannot remember clearly whether something was said or not. (335) Some centers require that counseling be on a separate day from the procedure to give patients time to think fully through everything. (336) However, critics argue the reality is that many patients have difficulty getting off work, arranging day care, or just traveling to the center if it is far away. (337)
These factors may lead to pressure by medical professionals and society to employ existing genetic technologies to justify abortion of most fetuses with genetic anomalies. Seemingly, this is why the American Medical Association (AMA) warns against the "subtle or passive eugenics brought about through a combination of social pressures" to employ existing genetic reproductive technologies. (338) The AMA Council acknowledges that these technologies already provide the basis for decisions about the worth of individual lives, and that this "may constitute an extremely dilute but acceptable form of eugenic selection." (339)
The Subsequent Impact on Informed Consent
One of the most surprising and frustrating problems surrounding prenatal genetic testing is the lack of informed consent. Twenty-years ago doctors were the sole medical decision-makers and now much emphasis has been placed on patient autonomy and self-determination within the medical context. In the United States, the clinical standard of care requires the physician to give accurate information to the parents and forbids the withholding of vital information. (340) Moreover, at the beginning of 2007, the American College of Obstetricians and Gynecologists expanded the clinical standard of care to include giving all women regardless of age the opportunity for Down Syndrome screening. (341) There is an expectation that a physician will inform parents if a possibility exists that a child will be disabled and then offer all alternative actions and therapies that are available, including abortion. (342) In many states, no obstetrician, gynecologists or other medical professional can be required to perform embryoscopy or any other prenatal diagnostic procedure. (343) While ideally informed consent would be a process whereby the patient could continually interject by voicing their concerns and by raising issues, each of which would be addressed in a manner fully comprehensible to the patient, the reality is typically different. Written informed consent for prenatal testing is rarely obtained, and when it is, it is by the stroke of pen before any discussion of genetic testing has taken place.
Most practicing geneticists attempt to obtain informed consent and to document outcomes through the use of "up front" consent forms and post-interaction, genetic counseling letters. (344) As a result of upfront consent forms, women typically do not know they have consented to prenatal genetic testing. (345) A typical pregnant woman is accustomed to having her blood taken during her regular prenatal screenings. When the blood test results come back, most women do not know they have had a genetic test done. If the results come back negative, they will likely never know they had the test. Only positive results are reported to the patient. (346)
Most insurance companies now consider prenatal diagnosis to be a generally acceptable practice and will pay for these medical services. (347) Usually, a prospective mother, regardless of age at delivery, will have an amniotic fluid sample sent to a commercial cytogenetics laboratory for chromosomal analysis without adhering to a specific type of testing. (348) In a situation where the subject matter at issue is highly-sensitive, a literal matter of life or death in some cases, and of direct impact upon people in a vulnerable state of mind, informed consent cannot exist as a penned mark on a two-sheet disclaimer undertaken during one sitting. (349)
This lack of informed consent can lead to a lack of preparation for decision-making by the patient, which may cause choice to be misleading. (350) Due to the fact that the decisions regarding genetic testing and preconception or prenatal assessments concern matters of an even greater sensitivity than typical treatment-oriented protocols, great care needs to be taken. (351) The result can be that many women are unprepared for the anxiety and distress that can occur when they are suddenly faced with a positive test result, and the difficult choices that follow. (352) Some may even discover that they would not have consented to genetic screening had they understood its larger implications. (353) For some of these women the information from prenatal screening can be toxic--it can cause them more harm than good. (354) The failure of providers to tie important considerations to the decision to begin prenatal testing is quite simply a failure of informed consent. (355) In particular, it falls far short of the genetic counseling model of informed consent, which strives to encourage decisions consistent with one's goals and life plans. (356) But, as some scholars have suggested, this failure may sometimes be collective (357) in that patients may be complicit in refusing to press the larger questions. (358)
California legally mandates that all healthcare providers offer maternal serum Alpha-fetoprotein (MSAFP) screening to all pregnant women. (359) Only the State of California requires informed consent for the maternal serum screening. (360) However, California has found mandating informed consent is not completely effective. As one study has shown, providers limited the discussion of Alpha-fetoprotein (AFP) screening to no more than two minutes and described it as a "simple blood test." (361) Little, if anything, was done to emphasize that the screening was voluntary. Providers tended to say almost nothing about its purpose. (362) In forty observed sessions, they offered only the most general descriptions of the conditions for which screening was done. (363) None of the providers discussed the decisions a woman might confront in the event of a positive diagnosis, and abortion was discussed only twice. (364) In short, so little time was devoted to explaining AFP screening, and patients were told so little about its purpose, that patients rarely had questions, even when given the chance to voice them. (365) In response to the legal mandate, providers seemed more interested in persuading, rather than informing, patients about the screening. Not surprisingly, the study conducted by Professor Press & Professor Browner found very high rates of acceptance when compared with the national average. (366) If the goal was getting people to take the test, the program succeeded. If the goal was ensuring fully informed, voluntary decisionmaking, in which patients are made aware and given a chance to consider the personal implications of their choice, the program seemed a dismal failure. (367)
In addition to requiring informed consent from the patient for that specific blood draw before it can be performed, the state of California has required: (1) the State Director of Health Services to create the necessary regulations and standards for hereditary disorders programs, including consent for testing, the confidentiality of information, the licensing of master level genetic counselors, and listing the minimum licensing requirements to use the title of genetic counselor; (2) that screening programs for hereditary disorders comply with the Hereditary Disorders Act [section] 27; (3) that prenatal testing programs for newborns under [section][section] 125050-125065 comply with the Hereditary Disorders Act; (4) a genetic disease unit to coordinate genetic disease programs and to promote information, testing, and counseling services, including the testing of pregnant women; (5) State Department of Health Services to administer a statewide program for the prenatal testing for genetic disorders and birth defects; (6) prenatal diagnosis centers to meet standards developed by the State Department of Health Services and to accept patients from certain State-funded or State-administered programs; and (6) the State Department of Health Services prohibited discrimination based on genetic information, including healthcare and insurance plans. (368)
The California informed consent process is only one example of the pros and cons of mandating the offer of genetic screening to all pregnant women, and requiring informed consent to the procedure. However, California has done more than most states. Dr. Neal Holtzman, head of a Bioethics Committee at Johns Hopkins University, agrees that the current informed consent process is flawed. (369) He stresses the need to formulate policies that will make it difficult to violate certain principles in the information transmission process. (370) His task force is working to develop safer tests, better quality and delivery of lab services and appropriate use of information by consumer and provider. (371) Until about ten years ago, most genetic tests were performed as research protocols. (372) Dr. Holtzman has said, "Now that a commercial industry is springing up to disseminate, interpret and advise consumers on a vast array of facts and results, which can have devastating effects, the need to institute safeguards in the informed consent process is paramount." (373) The Johns Hopkins Bioethics Committee has proposed the following steps to insure the patient's autonomous consent: (1) Know who the participant is (the whole family or the individual); (2) Note the influence of other family members on your client; (3) Work on the clear role of a genetic counselor; (4) Discuss and have a way to withdraw samples; (5) Mention that there is a choice as to whether test results will be discussed; (6) Beforehand, describe the means by which results will be delivered; (7) Mention any future intended use of personal data; (8) Work hard to forego making results public before validity of such results is established. (374)
As a general matter, this proposal would require a description of the test and a statement of its purpose; a description of the disease(s) or condition(s) for which a test will be conducted; an explanation of the risks of stigma and discrimination; and assurances that the patient's medical confidentiality will be protected, with any pertinent exceptions specifically stated. (375)
The first, crucial step in helping patients achieve truly informed consent and make truly informed decisions is to give patients access to information about what Down Syndrome is really like for most children and for their families. (376) According to the American Down Syndrome Congress, for example, prospective parents who learn that their fetus has a disabling trait need to receive: "(a) information that seeks to dispel common misconceptions about disability and present disability from the perspective of a person with a disability; (b) information on community-based services for children with disabilities and their families as well as on financial assistance programs; (c) materials on special needs adoption; and (d) a summary of major laws protecting the civil rights of persons with disabilities." (377) Also, people with Down Syndrome and parents of people with Down Syndrome should be available to talk with future parents. (378) Overall, with well-balanced, newly-adjusted informed consent requirements for the genetic counseling process, the number of children aborted due to misperceptions of their potential and dignity would be greatly decreased. (379)
The Role of Legal Liability
As mentioned earlier, the purpose of genetic counseling is to help patients make fully informed decisions. But the threat of malpractice motivates the profession to document the process with painstaking care, to develop detailed informed consent forms and to provide patients or physicians with detailed letters describing the counseling session. (380) Professor Gettig believes doctors will typically make the offer for genetic testing in both the first and second trimester typically for their own personal benefit, to avoid legal liability. (381) The doctors must tell the patient of the availability of the test, but the patient does not have to take the test. (382) However, some argue that doctors are encouraged to practice defensive medicine by encouraging women to take the test. (383)
In 1985, the American College of Obstetricians and Gynecologists' Department of Professional Liability issued an "Alert" entitled "Professional Liability Implications of AFP Tests." (384) In a climate of heavy malpractice litigation in obstetrics, the Alert declared that it was "imperative that every prenatal patient be advised of the availability of this test and that [member physicians'] discussion about the test and the patient's decision with respect to the test be documented in the patient's chart." (385) As a result, MSAFP screening for Down Syndrome became the standard of care, not for medical reasons, but in response to liability concerns. (386) Although the MSAFP story is not representative of how the standard of care is generally devised within the genetics/obstetrics community, it illustrates how the law can shape medical practice. (387) By the early 1990s, roughly 65% of women in prenatal care received MSAFP screening. (388) The rapid increase in MSAFP screening could be a positive or negative development depending on whether one considers MSAFP as helpful or hurtful to persons with disabilities, as supporting patient autonomy, or as morally and ethically neutral.
It is clear, health care providers function in a litigious society. In the arena of prenatal testing, parents have brought numerous claims for wrongful birth and wrongful life against physicians who did not inform them of the availability of amniocentesis. (389) The increasing liability imposed on obstetricians is arising out of the judiciary's greater recognition of wrongful birth and wrongful life actions and state legislatures' passage of statutes authorizing such actions. Both causes of action stem from the right of patients to have genetic testing. In the context of prenatal genetic screening, the issue is the right of parents to choose what is best for themselves and for their prospective children. (390) Wrongful birth actions are premised upon the right of parents to abort a fetus due to a genetic abnormality; (391) wrongful life actions (392) are premised upon the right of children not to have been born. (393) In states recognizing such actions, parents are likely to increasingly be told about the most remote possibility of a genetic abnormality.
Moreover, obstetricians are finding themselves subjected to general malpractice liability for: failing to suggest genetic counseling when there is even the slightest indication that it might prove helpful; (394) failing to fully inform prospective parents about the tests that are available; failing to explain the risks of testing; (395) failing to choose responsible laboratories to run tests; and failing to monitor the quality of test samples. (396) Liability may even arise from informing or failing to inform other family members when a malformed gene is discovered. (397) Moreover, this liability has been enhanced by the recognition of prenatal genetic counseling as a medical subspecialty, and genetic counseling will expand as additional prenatal genetic screenings are made available. (398) Also, because a majority of genetic counselors work in hospitals, (399) this fact likely means genetic counselors may be under increased pressure to reduce potential legal liability by encouraging abortions.
Faced with an increased threat of wrongful birth and wrongful life lawsuits, some doctors may push MSFCS or MPFDR on reticent or resistant patients, in order to "cover" themselves in the event of a malpractice action. (400) More subtly, though, physicians may de-emphasize the voluntary nature of the test, downplay or ignore the potential emotional consequences, or give misleading or incomplete information concerning the procedure and its results. (401) In my opinion, the latter concern is the most dangerous, especially in a regime in which testing would be available to most pregnant women, including many who are poorly educated or do not speak English. (402) Even well-meaning doctors may not always explain the procedure and its consequences in a way that can be understood by patients, leading to confusion regarding critical facts. (403) This potential for misunderstanding and unintentional manipulation underscores the need for training doctors and genetic counselors and developing guidelines for offering and administering the new tests. (404)
In sum, obstetricians (405) are facing a growing legal duty to refer patients to genetic counselors, and they are beginning to make referrals to counselors when there is even the slightest indication that counseling might prove helpful for "the legal guidelines for doctors in the field of genetic counseling are few and unclear." (406) Moreover, it is expected that, in the near future, "many genetic tests will be ordered and interpreted by primary care health practitioners, [rather than] only by geneticists or genetic counselors." (407) Some complain that testing might be over-performed due to fear of liability for wrongful birth and wrongful life suits and that people want the perfect, custom-made baby, and they want doctors to insure that they will get it. (408) In a vast majority of situations, what is in the best interest of patients is that doctors, genetic counselors and other medical professions act within the best interest of their patients, rather than acting to avoid legal liability. Informed consent procedures must be reformed to ensure that patients are receiving the best medical guidance and care available.
The Result: A Lack of Informed Consent
All of the above problems illustrate a lack of informed consent for the pregnant patient. As a result, the big question is whether or not women really have a choice. Many pregnant women who choose to undergo prenatal screening feel that it offers them an overall benefit by allowing them to make an informed choice about their pregnancies. (409) These women may feel like they have chosen to undergo the procedure for the benefit of themselves, their families, and potentially their fetuses.
It has been argued that current informed consent practices are creating merely an illusion of choice. As Ruth Hubbard has observed, when "'choices' become available, they all too rapidly become compulsions to 'choose' the socially endorsed alternative." (410) Even when women understand conceptually that they have a choice, social norms and beliefs about what is best for their child may make choice illusory According to a study of women who were offered AFP screening at an HMO in California, many women felt it would be wrong to refuse such testing because they thought it was for the benefit of their child. (411) If prenatal testing reflects good parenting and good judgment, how can one refuse it?
In some cases, patients actually believe they have no choice with regard to prenatal screening or testing. (412) Sometimes patients say they are referred to the genetic counselor and had been referred to the clinic because their physicians told them they "had to" have an amniocentesis. (413) Even if their physicians had only recommended prenatal testing, it is easy to see how they might interpret a physician's advice as a mandate in light of social attitudes about prenatal testing. (414) The perception that one has no choice is even stronger and more prevalent with respect to prenatal screening. (415) In California, where healthcare providers have a legal obligation to offer MSAFP screening, more than one-third of women interviewed believed (or suspected) the state required pregnant women to take the test. (416)
The combination of the manner and setting in which prenatal testing or screening is offered and social attitudes about the value of knowledge makes choice largely illusory. This result is deeply problematic because, without a sense of choice, patients may not have contemplated larger questions raised by prenatal testing and screening. (417) In essence, prenatal diagnosis cannot really be a choice when other alternatives are not available because of medical, professional and social pressures. By enabling prenatal testing to become commonplace, we create a social pressure caused by medical professionals and societies expectations. (418) As Professor Rothman states: "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." (419) By correctly and effectively implementing informed consent procedures, we can begin to restore choice by putting it back in the hands of women and their families.
Conclusion
An old story explains having a child with Down Syndrome like this: When you are going to have a baby, it is like planning an extraordinary vacation to Italy. You buy guide books and make your wonderful plans. You may learn some handy phrases in Italian. It is all very exciting. (420)
After months of anticipation, the day finally arrives. You pack your bags and you're off. Several hours later the plane lands. You look out the window and the sign says, "Welcome to Holland." All of your life you have dreamed of going to Italy. But there has been a change in the flight plan. You've landed in Holland and must stay. The important thing is you haven't been taken to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It is just a different place. (421)
So you must buy new guide books, learn a whole new la