The Baby in the Double Helix

Part 1 in a series on 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

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.

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.

Notes

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