Genetic testing and people with disabilities

Introduction

Technology involved in prenatal diagnosis is allowing detection of more and more conditions. This technology includes analysis of DNA from chorionic villus or amniotic fluid samples, as well as improved resolution and more sophisticated interpretation of ultrasound images. Like many new technologies, particularly those in medicine, prenatal diagnosis raises many ethical issues. Among these are questions about informed consent, abortion, and confidentiality. In addition, there are broader implications of this rapidly developing field for people living with genetic disease and other disabilities. These implications remain as yet largely unexplored, but, as the ethical dialogue continues, they will certainly have an impact on decision making on the socio-cultural and perhaps on the individual level.

Prenatal diagnosis serves a variety of purposes. In some cases, prenatal genetic testing can lead to timely medical intervention to mitigate or eliminate disease, as is the case in Rhesus isoimmunization, congenital adrenal hyperplasia, or a-thalassemia. In other cases, prenatal diagnosis allows families and medical professionals to prepare for the care of a child with special needs. Such preparations include ensuring appropriate intrapartum and neonatal care, as well as parental education and emotional adjustment. Determination of a genetic condition or congenital abnormality prenatally also gives parents the option of terminating a pregnancy, after considering the impact of the diagnosis in the context of their cultural beliefs and personal situation. While each of these options following prenatal diagnosis is complex, potential termination of pregnancy is likely the most ethically and socially problematic.

In some cases, prenatal diagnosis reveals a lethal condition, such as anencephaly, trisomy 13, or trisomy 18. In other cases, conditions which are diagnosed prenatally are not immediately fatal, but may lead to some degree of disability and/or reduction in life expectancy. There are many examples, including Down Syndrome, spina bifida, and cystic fibrosis, and there are many people living with these and other conditions. In fact, all people living with illness or disability, whether congenital or acquired, are indirectly or directly affected by prenatal testing technology.

It is vital that genetic counsellors and other professionals involved in prenatal diagnosis explore and contemplate the full and broader impact of this technology, so that they may, as much as possible, provide education and support in an informed and balanced manner.

To illustrate the significance of prenatal testing to people with disabilities and to create a framework for the following discussion, it is vital to first attend to the voices of those people who are directly affected by this technology. Equally important in setting a context for discussion is an examination of the statistical outcomes of prenatal testing. New issues in the social arena which have been raised by the advent of prenatal testing technology will also be explored. Finally, these observations and findings will be synthesized to identify some implications for practice in genetic counselling.

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Personal Reactions

People with disabilities, while they may share some common experiences, are more individual than alike. Each person has a unique viewpoint. A selection of articles and statements by people with genetic conditions and other disabilities, therefore reveals a spectrum of important concerns and reactions present in those communities. In some cases, prenatal diagnosis is welcomed. Others feel that the diversity embodied by people with disabilities is threatened by prenatal diagnosis, leading to a certain sadness and sense of alienation. These findings, while illuminating, should be interpreted with the caveat that those people who choose to publicize their views most likely are not completely representative of the population at large. Namely, as prenatal diagnosis is growing in its scope and availability, those who support this field are less motivated to speak up compared to those who have concerns about it.

Prenatal genetic technology, and its consequences, are acceptable to and welcomed by some people whose lives are touched by illness and disability. These people are a minority within the vocal disability rights movement, but their representation within the entire population of people with disabilities is unclear, as participation in advocacy for disability rights is self-selecting. Ruth E. Ricker, a past president of the Little People of America (LPA) describes these viewpoints:

We are broaching with the [LPA] membership the possibility that within one or two generations, we could see dramatically fewer dwarf children being born to average size parents and pressure on parents of all sizes to screen for and prevent the birth of “healthy” dwarf babies, as is being done for spina bifida and Down Syndrome. To some of our members, based on their life experiences, or own philosophies, this possibility is one with which they are comfortable.

There are individuals in the wider disability community who feel similarly, that they would not want to bring a child into the world to experience health-wise and socially what they have “suffered.”

Besides helping those with disabilities who would not wish to have children with the same conditions, prenatal genetic testing has helped some couples in which both partners have autosomal dominant short stature, and who wanted to avoid giving birth to infants with lethal homozygous dominant mutations. While welcomed by some of these couples, this application of prenatal testing is opposed by others, who feel that it is not worth the threat to survival of the short stature community at large. This sort of “slippery slope” argument is a common concern with prenatal genetic testing in general.

Ruth E. Ricker writes that the “disability rights perspective against all prenatal testing holds that we need to be concerned with the impact on the larger community over time.” This observation reflects the fact that, for some people, genetic anomalies are simply a part of human diversity and should be celebrated. Ricker refers to “a common feeling of self-acceptance, pride and community [among LPA members] that has been compared to more traditional disability groups and the deaf community.” To see how fiercely some might feel about protecting this culture and community, one need only look at the heated debate in the deaf community over cochlear implants, since, unlike therapeutic abortion, cochlear implants did not seem a priori to be objectionable.

While fears of “genocide” may represent a relatively small proportion of people with congenital disabilities, some feelings of potential loss are not at all uncommon. For example, Loren Spina, the mother of a child with Down Syndrome comments, “[i]t scares me to think that as prenatal testing gets better and better and better... it scares me to think that most babies with Down Syndrome will be aborted.”

In 1984, Ms. magazine published a personal essay by Rayna Rapp, who described her experience with a prenatal diagnosis of Down Syndrome and her ultimate decision to terminate the pregnancy. The following letter, written in response to this article, is a poignant and powerful expression of the alienation and abandonment some people feel in response to the growing application of prenatal testing technology.

Few things make me feel more utterly desolate and abandoned than the Women’s Movement’s resolve to support the choice to abort “deformed” fetuses. Yes, I know all the arguments. I am prochoice, too, I say. Yet I am severely disabled. Deformed. My mother would have aborted me too, if she could have. My movement, the disability rights movement, is weak because there are so few of us involved in fighting the kinds of stereotypes that persuade people like Rayna Rapp that they could never cope with “such a child.” We are no match against either the prochoice movement or the prolife movement, both of which are better organized and neither of which really understands what it feels like to be one of that group that everyone else is glibly fighting over. We still have no voice. Sometimes, lying in bed at night, executive job and all be hanged, I simply cry about this.... We can’t say it’s okay to be disabled, and mean it, and not want to bear a disabled child. It’s simply a contradiction. We have to resolve this issue first. The way we’re resolving it now allows no room to make a better world for people with disabilities. For the hope, conscious or not, is that maybe, someday, there will be none of us left. (name withheld)

Clearly, there is great diversity of opinion among people living with illnesses and disability regarding genetic testing . Equally evident is the depth of feeling many people have regarding this topic. Recognizing that prenatal testing is a growing field, and that it has direct relevance for people with disabilities, some groups, including the Little People of America (LPA) and the National Down Syndrome Congress, have issued position statements on genetic testing. These documents acknowledge the reality of prenatal testing, while also expressing concerns that technology may be outpacing ethical guidance. Their recommendations focus on protecting the rights of individual health care consumers and on the need for educating the general public about people with disabilities. The ideas expressed in these position statements eloquently acknowledge and address the diverse beliefs of the populations they represent, while making recommendations for policy surrounding the application of prenatal testing.

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Statistical outcomes of prenatal testing

It is clear from the above discussion that prenatal diagnosis is an issue of relevance to many people with disabilities and to their families. Their concerns alone are enough to justify a discussion of the ethics surrounding this technology. However, such a discussion must also be informed by statistical facts. Namely, to what extent has prenatal diagnosis reduced the number of children born with congenital abnormalities?

Although precise numbers are difficult to determine, it is clear that prenatal diagnosis often results in pregnancy termination. For lethal conditions, including anencephaly and some skeletal and kidney anomalies, the termination rate is close to 100%. It is lower but still significant for non-lethal conditions such as spina bifida and Down Syndrome. With the still limited use of prenatal testing, the significance for the overall birth rate of children with disabilities and genetic conditions is not clear.

Future trends in the use of prenatal testing and in rates of pregnancy termination will depend on many factors. Use of prenatal screening and diagnosis continues to expand, both in the number of women served and in the number and types of tests offered. In addition, decisions about termination depend on many social and personal factors, which may depend on people’s cultural background and experience. Importantly, future trends will also reflect the results of thoughtful dialogue in which genetics professionals and community members are engaging today.

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Socio-cultural Issues

Besides the effect of prenatal diagnosis on birth statistics of fetuses with congenital abnormalities, prenatal testing has led to real and potential changes in the socio-cultural environment for people with disabilities. For example, the assumption that couples should abort fetuses diagnosed prenatally with disabling conditions leads to less tolerance of and support for people with disabilities and their families. Another novel issue that has arisen is the tension and potential conflict between people who have chosen termination after prenatal diagnosis and people with disabilities. Prenatal diagnosis also adds a new dimension to the debate over abortion, and forces both prolife and prochoice advocates to reevaluate their positions and beliefs.

Perception of the goals of prenatal diagnosis vary from person to person, group to group. Dan Brock of the bioethics department at Brown University puts forth the argument that prenatal testing creates a “moral imperative” for pregnancy termination in cases where “the disease or condition is so harmful and irremediable that it makes the child’s life not living.” This view, which is troublingly blunt to some, represents one extreme. However, related assumptions about termination of pregnancy after a prenatal diagnosis are not uncommon.

What are the beliefs underlying popular perception of prenatal testing? Two major factors are the limitations of a medical model of disability and the related social discrimination against people with disabilities. A medical model of illness centers around a person’s deficits and disabilities. In fact, disease or disability describes only one aspect of any person’s experience. In many or most cases, personal beliefs, interests, and talents are far more meaningful. An excellent example and model is Stephen Hawking, the brilliant and popular physicist who also happens to have Amyotrophic Lateral Sclerosis (Lou Gehrig’s Disease). Professor Hawking writes, “I am quite often asked: How do you feel about having ALS? The answer is, not a lot. I try to lead as normal a life as possible, and not think about my condition, or regret the things it prevents me from doing, which are not that many.” The medical model and its limitations can lead to social discrimination. Advocates for disability rights content that disability is not inherent, but arises from social barriers. While this view does not hold true for all conditions and for all people, it highlights the impact of social environment on the experience of illness and disability.

Because of these assumptions and misconceptions about genetic disability, couples experience indirect pressures to terminate a pregnancy after prenatal diagnosis. Loren Spina recalls that, “I felt I had to defend my position to keep my child.” She and her husband felt it was difficult to find support, because the expectations of their friends and coworkers were that they would terminate the pregnancy. ”I’ve heard people say,’Why bring a child into this world that has to have a hard, painful life?’... [but] most of these medical problems are temporary and fixable -- the minor ones are more like nuisances. And the mental retardation - that does not have to hinder his happiness and his ability to live a full life.”

Besides a lack of emotional support, people with disabilities and their families may experience discrimination in matters of employment and insurance, which may be exacerbated by assumptions about prenatal testing. Loren Spina’s husband, Sal Spina was told by his employers that they felt his family’s decision to continue the pregnancy after their son was diagnosed prenatally was hurting the company because of the additional time and energy he would be devoting to raising a child with disabilities. In this way, the arrival of prenatal testing technology and society’s assumptions about it may be creating an atmosphere in which people are less tolerant of disability. It is foreseeable that a positive feedback process could lead to poor support for people with disabilities increasing termination of pregnancy which could lead to a worse environment for people with disabilities and so on.

The decision to terminate a pregnancy after prenatal diagnosis is often difficult and painful. As families who have experienced this type of pregnancy loss become more numerous and legitimately seek support among themselves and from others, they come into contact, whether directly or indirectly, with people living with genetic conditions and disabilities. While this need not necessarily be the case, the coexistence of these two groups can understandably sometimes lead to discomfort and tension for both parties. As we struggle to provide the best support possible to both parties, it must also acknowledge that some degree of conflict will most likely always be present.

Prenatal testing technology has added additional complexity to the debate over abortion. For many, and particularly for people with disabilities, it raises the question of whether one can be prochoice and yet feel uncomfortable, even oppose, termination for certain prenatal findings. Each individual has a different answer to this dilemma. Lisa Blumberg, a lawyer and freelance writer, frames the complexity of this problem:

I believe that the public discourse that we need has been stalled - even in the disability community - because when people discuss the implication of the new reproductive technology at all, they tend to do so within the framework of their views on abortion. Yet these issues transcend the abortion controversy, even as they cut across both sides of that debate. Somehow, we must begin to think more creatively and learn to meld together different world views . It is only then that we will have the hope of solving the conundrums created by the new reproductive technology in ways that will respect the individuality of us all.

While not a traditional disability group, homosexuals are a minority group that sometimes experiences discrimination parallel to that experienced by those people with physical or mental disabilities. Some homosexuals have proposed that the potential discovery of a “gay gene” that could be detected in prenatal testing is reason to support a prolife position, protecting the future of homosexuals. Tom Sena, founder of the Pro-life Alliance of Gays and Lesbians advocates for this view.

[T]here are many reasons, maybe an infinite number of them, why a woman may have an abortion, all of them justifiable if the woman thinks so. That until recently was the party line. Now, however, the line gets smudged, because of the competing line we draw at the bodies of our fellow homosexual unborn... If we bring ourselves to admit that abortion is wrong when used to exterminate gay people for being gay, then in simple consistency we have to rethink the morality of abortion in and of itself.

Clearly, as practically any issue, there is a diversity of opinions on the relationship of disability rights to views on abortion. This facet of social debate raised by prenatal testing technology is still in a process of development, as are other issues regarding the decreased acceptance of disability and the challenges faced by people of all beliefs and backgrounds whose lives are affected by prenatal diagnosis.

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Implications for practice in genetic counselling

An exploration of the impact of prenatal testing technology on people with disabilities (and vice versa!) reveals many implications for practice in genetic counselling. First of all, it highlights the importance of engaging health care consumers, who in the case of prenatal testing are primarily women and people with disabilities, in dialogue and discussion. While a step in the right direction, discussion of the ethics of prenatal diagnosis in journal articles and at conferences remains external and removed from the people this technology most directly impacts. Keeping this in mind, key issues which are raised include the need for a reevaluation of informed consent to prenatal testing; moving beyond a medical model in counselling potential parents; and the role of meeting people with disabilities in prenatal decision making.

While the technologies of prenatal diagnosis have the greatest impact on women and on people with disabilities, these groups have not traditionally been involved in the formation of policy about their application. Encouraging the involvement of these groups is the responsibility of health care professionals and health care consumers. Lisa Blumberg issues the call to arms, writing that “[d]isability activists need to be aggressive in initiating and framing the debate [surrounding prenatal testing] because our interests, along with those of women, are the most directly involved.”

The participation of the community in discussion of ethical issues is important, because the researchers and medical professionals who develop tests, and the insurers, whether private or state, who pay for them, do not always have the same priorities as the consumers of these tests. For example, many studies have shown that women and men employ distinct criteria and priorities in their decision making. Men (most of the technology and policy makers) tend to value reason and objectivity, while women (most of the technology users) tend to follow an “ethics of care,” involving more subjectivity and emphasis on personal relationships. In the case of prenatal testing technology, the primary issues, such as cost-effectiveness, for the administrators of the technology are not the same as for the individuals who may use the technology. To illustrate this point, examine the mission statement of the California Department of Health Services Genetic Disease Branch: "To serve the people of California by reducing the emotional and financial burden of disability and death caused by genetic and congenital disorders. “ Without belittling the fact that this office is coordinating important services, in most cases provided by sensitive professionals, its stated goals are certainly not those of many families using those services. For example, while financial burden may play a role in many families’ decision making, in the words of medical geneticist Diana Bianchi, “in 15 years of practicing genetics, no one has ever asked me how much does it cost to raise a child with Down Syndrome.” These discrepancies in interests between health care administrators and health care consumers highlight the need to address this imbalance of power and to give a voice to the women and people with disabilities whose lives are most directly affected by prenatal diagnosis.

Jeffrey Botkin, a professor of pediatrics and medical ethics at the University of Utah, also acknowledges the imperative to expand the debate over the use of prenatal diagnosis: “as professionals are the gatekeepers of these technologies, we need to have a broad social dialogue that will outline what the professional standards should be.” Even from the preliminary survey of opinions and beliefs described here, it is evident that the development of standards of care should encompass not only medical services but the way in which they are presented and applied. Three major recommendations of many people with disabilities all centre around empowering consumers of prenatal tests: improving non-directiveness in offering prenatal tests; moving beyond a medical model in discussing disability with potential parents; and involving people with disabilities in counselling potential parents.

In general, prenatal tests, especially screening tests such as Maternal Serum Screen and ultrasound have become a routine part of prenatal care. Many people feel that principle of informed consent is being overlooked in these cases. The use of these tests without informed consent implies that all mothers would want to take action on fetal disabilities. Non-directiveness is a goal of genetic counselling, yet complete non-directiveness is most likely unattainable. In the words of researcher Nancy Press, “once you offer a test you are greatly increasing the chance it will be used. Especially in a prenatal situation, even an offer is a recommendation.” Even a procedure as seemingly routine as a dating ultrasound may reveal abnormalities. For these reasons, many people, particularly members of women’s rights and disability rights groups, have advocated more strict and non-directive use of informed consent for any and all prenatal testing.

When it comes to counselling patients through the decision-making process after a prenatal diagnosis, a counsellor should not only discuss the scientific and medical facts but also help clients explore their values and the significance of a diagnosis in the context of their situation and experience. In other words genetic counselling must move beyond a medical model of disease and disability. Lisa Blumberg writes that “when counsellors provide prospective parents with merely a list of deficits their future child may have,... they are only telling half of the story. The other half is how people cope with these limitations and what other factors may influence their lives.”

While the medical diagnosis may be easier to discuss, both tactically and emotionally, genetic counsellors should explore their own perspectives on disability learn more about the everyday experience of life with a genetic condition or disability, so that they are better prepared to help their clients. Otherwise, a genetic counselling experience will not be complete. Loren and Sal Spina expressed frustration that the genetic counselling they received did not help them to better understand what life was like for children with Down Syndrome and for their families. In Loren’s words, “believe me, when you’re getting that information [about your fetus having Down Syndrome], a karyotype is not helpful.” Besides drawing on their own (usually indirect) experience, genetic counsellors may sometimes arrange opportunities for couples making decisions about prenatal diagnosis to meet people living with genetic conditions or other disabilities. While this may not be suitable for all individuals, it has merits which deserve exploration. Lisa Blumberg argues that “[p]ersons affected by disability are the most qualified to provide insight on the lifestyle concerns that prospective parents will have after prenatal diagnosis. We cannot tell others what they can personally cope with, but we can tell them how it is for us - and we can share with them our individuality and the range of our views. We can suggest that it is alright to embark on an endeavor which sometimes may be hard, which may make one an outsider and where there are few signposts. We can point out that it is O.K. to do the unusual thing.” On a more emotional level, Loren Spina recalls that the turning point in her and Sal’s decision making process was visiting a “Mommy and Me” program for young children with Down Syndrome: “It was great, They were just babies - crawling, pulling hair and drinking from bottles. My husband cried.”

Women and people living with genetic disabilities are the people most directly affected by prenatal testing technology. The participation of these groups in discussions about the use of prenatal testing will provide important direction for the development of standards of care in this field. These standards should address not only medical issues, but also details of how best to offer testing and how to counsel patients outside a medical model of disability.

The rapidly growing field of prenatal testing has raised many ethical questions. Many of these pertain to people living with genetic disease or congenital abnormalities, and indirectly to all people with disabilities. There is a great diversity of feelings on the topic, ranging from acceptance to fear to anger. Testing technology has led to significant use of pregnancy termination following prenatal diagnosis. However, the overall impact on the incidence of various conditions at birth is not clear. Regardless, there has been social fallout for people with disabilities. Many feel that discrimination against and deprecation of people with disabilities has grown due to indirect effects of prenatal testing in both the cultural and legal realms. In response to these real and perceived threats, various individuals and groups representing people with genetic conditions or disabilities have made recommendations for the application and delivery of prenatal testing services. These proposals emphasize the need to move away from a medical model of disease towards an understanding of disability in a richer personal and social context.

Note: Human genetics is an extremely complex topic. This website is meant only as an introduction and overview. If you are concerned about how genetics may affect your health, always consult your physician.