The Baby in the Double Helix

This is a reprint of a post I wrote for Nursing Clio in August 2012. It is the first of a three-part series on genetics and genetic counseling.

What makes for a healthy baby? Is it an absence of something? Or is it a particular quality? Once we’ve defined it, how do we go about guaranteeing healthy babies?

In a July 20 article in the New York Times’ parenting blog, Motherlode, author Ellen Painter Dollar shared an emotional and insightful piece about her experiences as a person with osteogenesis imperfecta (OI, which causes fragile bones and other symptoms), a characteristic that can be passed on to one’s children.

Dollar told of how her first child inherited the trait for OI. How between the ages of two and four her daughter had six broken bones. And how she and her husband struggled “with whether, and how, to have another baby” given the chances of passing the trait for OI to another of her children.

They decided to undergo a procedure called preimplantation genetic diagnosis (PDG). This is in vitro fertilization (IVF) combined with a step to test the embryos for a specific genetic trait before implantation in the uterus.

This IVF procedure didn’t result in a pregnancy but, as Dollar recounted, “by that time, the desire that had seemed so simple — to have a strong-boned baby — had become complicated.” She recalled how the staff at their fertility clinic told them all kinds of things about risks, success rates, and procedures, but not about how fraught with questions PGD could be:

  • What does it mean, for example, to try to choose traits for a prospective child?
  • Does genetic screening and prenatal testing “[feed] on a culture that expects parents to meet higher and higher standards for raising successful, healthy children”?
  • What do procedures like these suggest about the value of life for those living with disabilities?

On face value it seems obvious that one would take whatever steps possible to prevent conditions like OI, but as Dollar’s story shows, it’s not that simple. To add a few more questions to the pile: Where do we draw the line between disability and difference? At what point does atypicality become something to avoid through screening or abortion?

These are potent questions, especially when they cease to be theoretical and are about one’s future children. And Dollar’s experience is far too often the norm. Clinics often don’t raise these personal, moral, and ethical questions before, during, or even after genetic screening procedures like PGD or prenatal testing. Particularly once a woman reaches a certain age such testing becomes routine — without any discussion about why the test is being done or what an individual or couple might do with the results.

This is not to say that genetic testing or prenatal testing are bad or that they’re wrong. But they do raise difficult questions — questions that should be fully considered before a test is given and along with the results.

Today, genetic counseling is one attempt to address this communication vacuum. Genetic counselors, in the most ideal situations, meet with prospective parents before, during, and after testing in order to help them understand why they’re getting the test, what it can and can’t tell them, and what they can do with the information. They’re also there to help consider and discuss the slew of difficult questions prenatal testing raises — they help clients discuss these issues, but are never supposed to make specific recommendations.

Genetic counseling has provided educational and counseling services to people with questions about genetic conditions since its origins in 1940s heredity clinics. Genetic counselors have focused on helping clients understand the science behind inherited conditions, as well as the probability of those conditions appearing in themselves or their children. The history of genetic counseling in the United States helps us think about where such seemingly obvious concepts as “healthy” or “normal” come from and how they become even more complex when thinking about having children.

A Glimpse Into the History of Genetic Counseling

The Zoology Building, home of the Dight Institute. From the "General Program of the Meeting of Biological Societies," 1951

The Zoology Building, home of the Dight Institute. From the “General Program of the Meeting of Biological Societies,” 1951

In the late 1940s or early 1950s, a concerned mother wrote to the University of Minnesota’s Dight Institute for Human Genetics for advice. She had recently lost a child who was born “with single harlip, no palate, hypospadius” and with a partially unformed skull, and had another child with similar conditions.

“My husband and I,” she wrote, “feel a great need and desire for a normal family,” but they were barred from adopting without placing their first child in an institution, which they were reluctant to do out of concern for the child. “I would like to have another baby,” the woman concluded, “but if studies such as yours prove that the odds are against us, then, the Lord’s Will be done, and we will not have another.”

The Dight Institute staff advised her in part with an analogy: “each time the mother is pregnant she can ‘draw straws’ from a bundle, three of which are marked ‘normal’ and one which is marked ‘abnormal.'” They suggested that having another child would be “a real gamble” but left the decision with the parent “where it belongs.”[1]

The case of this worried mother, who cared deeply for her disabled child but longed for a “normal” family, and wrote to a group of experts she read about in the newspaper for help, offers a window into the development of genetic counseling in the 1940s. It’s easy to sympathize with this mother’s hopes and fears. She had just gone through the no-doubt heartbreaking ordeal of losing a child, and worried it might happen again.

But at the same time, culturally loaded phrases like “normal family” lead us to consider the historical nature of ideas about pregnancy, disability, and genetics. And coming across similar language to describe albinism, “feeblemindedness,” or Down syndrome raises important questions about where parents, doctors, and scientists drew the line between serious and non-serious conditions. It begs the question: what does it mean to prefer non-existence to, for example, conditions like blindness?

This brief story highlights the ways that parents’ expectations for both pregnancy and the role of science in their lives were changing. Women in the 1940s were more likely to seek the advice and care of an obstetrician or a physician than they had been in previous decades, and many Americans in the mid-twentieth century were more likely to perceive science and medicine as responsible for making sure that they and their families were healthy and happy.

In recent decades scientists and doctors have developed new medical techniques and technologies in an attempt to even more closely manage the outcomes of pregnancy, but, as we can see in this story, these efforts far precede things like PGD and even prenatal testing.

This is the first in a series of posts that will explore the past and present of genetic counseling to explore what it means — and what it has meant in the past — to talk about having healthy babies.

Part 2: Now It’s Everybody’s Fault

Notes

1. Sheldon Reed, Counseling in Medical Genetics (Philadelphia, PA: W. B. Saunders Company, 1955), 62–63.

Further Reading

Parens, Erik, and Adrienne Asch, eds. Prenatal Testing and Disability Rights. Hastings Center Studies in Ethics. Washington, DC: Georgetown University Press, 2000.

Rapp, Rayna. Testing Women, Testing the Fetus: The Social Impact of Amniocentesis in America. New York: Routledge, 1999.

Reagan, Leslie. Dangerous Pregnancies: Mothers, Disabilities, and Abortion in America. Berkeley: University of California Press, 2010.

Resta, Robert G. “The Historical Perspective: Sheldon Reed and 50 Years of Genetic Counseling.” Journal of Genetic Counseling 6, no. 4 (1997): 375–377.

Wexler, Alice. Mapping Fate: A Memoir of Family, Risk, and Genetic Research. 1st ed. New York: Times Books: Random House, 1995.

Now It’s Everybody’s Fault

This is a reprint of a post I wrote for Nursing Clio in September 2012. It is the second of a three-part series on genetics and genetic counseling.

Welcome to the second in a series of posts discussing genetics, prenatal testing, and genetic counseling. In this post we’ll be thinking about blame and birth atypicality.[1]

Earlier this month the New York Times and other news media reported on the findings of a recent study published in the journal Nature. In some cases, the study suggested, the increased genetic mutations found in older men’s sperm could make it more likely their offspring might develop autism or schizophrenia. (Note the liberal use of hedging words – some, could, might, etc. – these conditions are still not well understood, nor are their causes.[2]). “Let the baton of blame pass to the next runner,” KJ Dell’Antonia’s NYT article opened, hopefully tongue-in-cheek. Other headlines have been similar: “Study Links Autism Risk to Father’s Age”, “Hooray for the Male Biological Clock!”, and Are Older Fathers Causing Autism In Their Kids?.

I agree with the general idea of these and other stories that call for men to share in thinking about fertility issues. It’s understandable for people like Ann Friedman, writing for the NY magazine, to “resent being asked by older relatives and well-meaning co-workers if we’re planning for kids yet, while our brothers and uncles and boyfriends are blissfully unquestioned.” Women have, for easily the past century and more, bore the brunt of the guilt whenever something unexpected happened in a pregnancy (including, as these articles discuss, the birth of a child with a condition like autism).

In 1924, for example, Mrs. W.M. wrote an anxious letter to the United States Children’s Bureau. “I have been told how easy you can mark a baby,” she explained. “It has really made me ill at times, & awfully nervous; even at a movie if an actor should put his hand on his face,” she continued, “I get a scared & sinking feeling around my heart. I worry & think, I only hope that wont or didnt [sic] mark the baby.”[3]

These were common beliefs not only in the 1920s (when organizations like the US Children’s Bureau were trying to replace them with medical advice) but for many decades before, and some after. The Children’s Bureau staff responded that stories about “marking” babies – a belief that a sudden fright or staring too long at something could have a physical influence on the developing fetus – were based on ignorance and superstition. The best way to guarantee a healthy baby, they told W.M., was to follow the Bureau’s rules of hygiene, which included good diet, rest, relaxation, and moderate recreation.

This was certainly sound advice. It encouraged women to depend on doctors and medicine rather than worry about traditional beliefs, but it didn’t change the implication that there was still something to worry about. Someone still might be blamed: no longer for looking too long at a startling image, but for eating the wrong things or, today, for having “deleterious” DNA.

Spreading the blame around is not the answer.

The NYT article closed with the apparent prediction that men are unlikely to worry about findings like these, implicitly because men don’t worry. Culturally speaking, worrying about things like pregnancy (and health) is “womanly.” And, as W.M.’s story suggests, this assumption grows out of a long history in which women were often specifically blamed for anything unexpected in a pregnancy.

Not feeling guilty is a luxury many women, who grew up in a culture with a history of blame, don’t have. Instead, women more often feel they have to keep their feelings of guilt secret because, as the NYT article quotes one father, “feeling guilty is ridiculous.” He’s probably right, in that feelings of guilt and blame don’t help anybody, and can be quite damaging. But how do we go about addressing it without making people feel “ridiculous” for feeling guilty? Moreover, I worry we’re just skimming the surface of a deeper problem.

Spreading the blame around is not the answer. We really need to be asking ourselves, what is the blame for? What is the anxiety about? Where does the guilt come from? And what do these feelings suggest about how we view difference and disability?

In most cases the anxiety, guilt, and blame stems from the birth of a child with some degree of difference and is rooted in the history I touched on with W.M.’s story. In these articles the difference is autism, but it could just as easily be Down syndrome or blindness. While people debate the causes of these conditions – environment, genes from the mother, genes from the father – very rarely do they consider what the debate says about the people with these conditions. What does it mean that their birth triggers blame and a search for “what went wrong.”

This is, admittedly, very tricky territory. There are many conditions that result in severe pain and early death. A search for causes that might treat or prevent these conditions is a decidedly worthy endeavor. But where do we draw the line? As I discussed in my previous post, it’s extremely difficult to define the point where disease ends and difference begins. What about blindness? Many people would probably view it as a disability, but not everybody does – there is nothing “natural” or obvious about seeing blindness as a negative trait (see Deborah Kent’s “Somewhere a Mockingbird,” for example). I’d imaging you’ll find similar perspectives at the annual Paralympic Games that started in London today.

Also consider the fact that as recently as the 1930s things like albinism, below-average intelligence, and such vaguely defined conditions as “feeble-mindedness” would have also made the list of “deleterious” traits. It’s even more difficult to separate difference from disease when one notices how definitions of acceptable difference change drastically over less than one lifetime.

These issues are important not only to the question of blame or guilt following childbirth, but also to prenatal testing and the decision to have a child in the first place.

One of the many problems with blame is that it interferes with parents’ decisions. Take prenatal testing as an example. If a test exists for a condition like Down syndrome, then what does it suggest about the woman or couple who chooses not to have the test? Does it reflect on them as prospective parents? Or it is just a decision? When we think in terms of blame, people are generally less free to make their own decisions unimpeded by how they might be judged – see Ashley Baggett’s recent post on “Mom Shaming” as an example of this tendency.

So how do we respond to this? As you might have guessed, particularly if you read the first post in this series, genetic counseling has the potential to at least ease the blame and help parents really understand what disability and difference really mean. What will life actually be like for them and their children? What do the tests say, and what don’t they say? What are the options after having the test? Sensitive genetic counseling may not be able to completely eliminate blame and guilt, but it can at least teach coping strategies and bring it out into the open where it can be dealt with.

Part 3: What Does Responsibility Have to Do with Reproduction?

Notes

1. I will continue using the word “atypical” rather than “defect” or some variant of that because I dislike the way these words connote value. A “defect” in English is not intended as something good, or even neutral, and I would prefer to find a word that skews more towards neutrality.

2. In fact, Nature’s own report on the study specifically said: “The study does not prove that older fathers are more likely than younger ones to pass on disease-associated or other deleterious genes”; only that it is a “strong implication.” The subject of risk factors – what they mean and how they’re communicated – is a topic for another post, but it’s important to bear in mind that studies such as this only hint at part of a much larger story.

3. Mrs. W.M. to the United States Children’s Bureau, November 28, 1924, quoted in Molly Ladd-Taylor, Raising a Baby the Government Way: Mothers’ Letters to the Children’s Bureau, 1915-1932 (New Brunswick, NJ: Rutgers University Press, 1986), 56.

Creative Commons-licensed flickr photo by Kyle May.

What Does Responsibility Have to Do with Reproduction?

This is a reprint of a post I wrote for Nursing Clio in November 2012. It is the third of a three-part series on genetics and genetic counseling.

Genetic counseling, as the previous two posts in this series suggested, has a lot to offer for navigating the tricky decisions things like prenatal testing and preimplantation genetic diagnosis raise. Well, in this post I’d like to make things a little more complicated. Enter the sheer messiness of history. I still believe genetic counseling is the best approach we have right now for helping prospective parents with hard choices, but it has a complicated — and not so distant — past that continues to shape counselors’ ways of interacting with clients and their decisions.

A Little Review

In the first post I shared a little bit of the history of genetic counseling in the United States and gave some examples of how, today, it can help prospective parents understand why they’re being tested and what those tests might mean. The second post discussed the history of blame and disability more broadly and introduced the fact that ideas about what disability means have changed over time — often significantly.

I’ve argued that genetic counseling has the potential to address feelings of blame, guilt, and confusion in the face of genetic testing results. Further, it can help answer questions like: What will life actually be like for parents and their children? What do genetic tests say and what don’t they say? What are the options after having a test?

My optimism about genetic counseling, evident in these two posts, is tempered by the fact that it has a complex and challenging past with origins in eugenics ideology that have influenced the way counseling is provided today. In a sense what I’m suggesting is that genetic counseling still has a lot of issues that need to be talked about and worked on, but that it’s way better than nothing.

Lets take a look at what I mean about how eugenic ideas shaped genetic counseling.

Eugenic Beginnings

Most of the first genetic counselors in the 1940s, 1950s, and 1960s were human geneticists, but the origins of human genetics lay in eugenics. Early genetic counselors identified self-proclaimed eugenicists like Charles Davenport, founder of the Eugenics Record Office at Cold Spring Harbor — one of the nation’s leading eugenics institutions between 1910 and the 1930s — as some of the first human geneticists in the United States. And four of the first five presidents of the American Society of Human Genetics, founded in 1948, were also board members of the American Eugenics Society.[1] Human geneticists tried to distance themselves from aspects of the traditional eugenics movement, particularly its racial prejudices and some of its scientific methods, but were still concerned about the eugenic effects of their work. They worried about what effect their counseling might have on the population as a whole.

Eugenics Record Office, Cold Spring Harbor, New York.

Eugenics Record Office, Cold Spring Harbor, New York.

Genetic counselors, partly to distance themselves from traditional eugenics, adopted a non-directive approach to counseling their clients. They refrained from giving specific recommendations about whether or not clients should have children. At the same time, though, they reassured themselves that their counseling would have a gradually positive influence on the “gene pool.” (This reliance on individual decision-making gave prospective parents an outsized role in shaping the development of genetic counseling to focus on their concerns, and would later contribute to the client-centered nature of genetic counseling in the 1970s to today.)

Early counselors could console themselves that genetic counseling would ultimately help make a more “fit” population because they expected their clients to make “rational” decisions. Responsible, rational, prospective parents, early genetic counselors believed, would do everything they could to ensure “normal,” healthy children. They partly based this expectation on the belief that many inherited differences were diseases that any “normal” person would want to avoid.

Lee Dice, a driving force behind the creation of the Heredity Clinic, in Ann Arbor, (one of the first places in the country to offer genetic counseling) was one of many genetic counselors who wanted heredity clinics set up all over the United States to help couples make informed, “rational” decisions about whether or not to have children.[2]

Dice and his peers expected such clinics to meet the needs of clients, but believed they could also solve a problem that many geneticists thought threatened modern society: thanks to modern medicine, Dice explained, “many individuals who carry serious hereditary defects survive to transmit their harmful genes to their offspring,” thus increasing the incidence of those genes in the population. “Segregation or sterilization of defective persons,” he acknowledged, could be an effective antidote if implemented on a large scale.[3]

Dice acknowledged, however, that “no sane geneticist” would accept the degree to which such a program would infringe on the “liberties of the people.” The decision had to remain with the clients. “Voluntary abstention from reproduction by those persons who carry hereditary defects,” Dice argued, “is consequently the only practical method for eliminating any considerable number of harmful genes from the population of a democracy. With only rare exceptions,” he continued,

“every person is interested in his heredity. From my experience in giving advice about heredity to families in all walks of life I can affirm that every parent desires his children to be free from serious handicaps and to be physically and mentally well endowed. If there is known to be high probability of transmitting a serious defect, it would be an abnormal person indeed who would not refrain from having children.”[4]

The success of this system, Dice noted, would be “dependent upon each family being given dependable advice” from organizations such as his own Heredity Clinic. Two unspoken assumptions at the heart of this argument deserve particular notice. First, Dice relied on a presumably universal definition of normal and abnormal. Second, there was no space in his worldview for a parent who would accept the possibility of a child being born with what he perceived to be an unacceptable genetic difference.

This brief history highlights the ways that parents’ expectations of both pregnancy and the role of science in their lives were changing. Women in the 1940s, 1950s, and 1960s were more likely to seek the advice and care of an obstetrician or a physician than they had been in previous decades, and many Americans in the mid-twentieth century were more likely to perceive science and medicine as responsible for making sure that they and their families were healthy and happy. Genetic counseling originated in the minds and the professional literature of human geneticists, but took its shape from the interactions between geneticists and the would-be parents who took their questions, concerns, and hopes by foot and by mail to the nation’s new heredity clinics.

Back to Today

So what does this have to do with today? Genetic counselors don’t talk (or likely think) like this anymore, and commitments to patient/client autonomy are much stronger now than they were when first developing out of the “non-directiveness” of the mid-20th century. But in other ways we still have a tendency toward expectations of “rational” decision making from would-be parents.

Consider a situation where a deaf couple wants to have a child that is also deaf. Would this be a problem? Is it any different than selecting, instead, for a hearing? This isn’t actually a thought experiment: this very question caused significant controversy in 2008 (see, the 2008 case, a brief Atlantic post, and a longer post by Katja Grace). And what about a couple whose genetic analysis or prenatal test suggested a strong chance of Down syndrome, for example, and who proceeded to have a child with that condition. Were they irresponsible?

A question we’re left with is: how non-directive can genetic counseling be — how autonomous can even the most “fully informed” consenting clients be — when certain decisions may be perceived as irresponsible, irrational, or wrong (and, perhaps, health insurance or services denied on these grounds)?

Notes

1. Sheldon C Reed, “A Short History of Human Genetics in the USA,” American Journal of Medical Genetics 3, no. 3 (1, 1979): 288–291; F. Clarke Fraser, “Introduction: The Development of Genetic Counseling,” Birth Defects Original Article Series 15, no. 2 (1979): 7; Diane Paul, “Eugenic Origins of Medical Genetics,” in The Politics of Heredity: Essays on Eugenics, Biomedicine, and the Nature-Nurture Debate, ed. Diane Paul (Albany: State University of New York Press, 1998), 138.

2. Daniel J. Kevles, In the Name of Eugenics: Genetics and the Uses of Human Heredity (Berkeley: University of California Press, 1985), 225.

3. Lee R. Dice, “Heredity Clinics: Their Value for Public Service and for Research,” American Journal of Human Genetics 4, no. 1 (March 1952): 1.

4. Ibid., 2.

For further reading on this topic, see Alexandra Stern’s new book, Telling Genes: The Story of Genetic Counseling in America (Baltimore: Johns Hopkins University Press, 2012). This talk by Michael Sandel also brings up some interesting points about how genetic technologies can shape ideas of “good citizenship.”