Confessions of a "Genetic Outlaw"
Editor's note: this is the first of two perspectives to be published by BusinessWeek.com on preimplantation genetic haplotyping, a new technique for screening embryos for 6,000 inherited diseases
From time to time, we are all confronted with the disconnect between how we see ourselves and how others see us. I've always seen myself as a responsible, law-abiding citizen. I recycle, I vote, I don't drive a Hummer. But I've come to realize that many in the scientific and medical community view me as grossly irresponsible. Indeed, in the words of Bob Edwards, the scientist who facilitated the birth of England's first test-tube baby, I am a "sinner." A recent book even branded me a "genetic outlaw." My transgression? I am one of the dwindling number of women who receive a prenatal diagnosis of Down syndrome and choose not to terminate our pregnancies.
So when I hear about medical breakthroughs like preimplantation genetic haplotyping (PGH)—a new technique to screen embryos in the in vitro fertilization process for 6,000 inherited diseases—I can't help but see 6,000 new reasons that parents will be branded as sinners or made to feel socially irresponsible for bringing their children into this world.
PGH is a refinement of preimplantation genetic diagnosis (PGD), a form of genetic testing developed in Britain in the 1980s. The procedure typically is performed within a few days after fertilization when the embryo consists of eight cells. One or two cells are taken from the embryo.
The DNA is extracted from the individual cell, replicated to create a big enough sample to work with, and then analyzed for chromosomal abnormalities. About 200 different genetic conditions can be identified through this procedure, including Huntington's disease, muscular dystrophy, sickle cell anemia, and Down syndrome. If an unwanted condition is identified, the tested embryo is not implanted. If no condition is identified, the embryo can be implanted in the mother's womb and will grow into a healthy baby. PGH exponentially increases the number of conditions that can be identified in an embryo before implantation.
This incredible technology has been heralded as a significant advance in our ability to offer couples who know they are carriers of certain genetic conditions "their first realistic chance of having healthy children." It has also been described as an improvement over cruder techniques for preventing the birth of children with inherited conditions. Instead of screening for certain x-chromosome-linked conditions by destroying all male embryos, doctors can screen male embryos to determine which ones actually have the particular condition.
PGD generally is considered by many to be preferable to the more commonly performed prenatal genetic tests, such as amniocentesis. And all of these techniques are more precise than even cruder predictive tests, such as those based on hormones and proteins found in a pregnant woman's blood.
From my perspective, though, our increasingly sophisticated technological capacity to identify genetic defects in our children also presents some very real threats to the kind of world we will be passing on to them. A few years ago, author Christine Rosen wrote, "Those who oppose discarding unfit embryos or aborting unfit fetuses will soon become—perhaps already are—a dissident culture, tolerated at best, but more likely heavily regulated by a society that increasingly expects only healthy children to be born."
COUNTING THE COST.
Scientists are beginning to tell me precisely how much dissident acts like not aborting my son cost society. A study published in 2000 in the American Journal of Medical Genetics concluded that the average lifetime cost of each "new case" of Down syndrome is $451,000. This study differentiated the lifetime costs of various types of prenatally diagnosed disabilities leading to abortions in one hospital in Michigan. For reasons I can't fathom, Down syndrome turns out to be the most expensive by far. In contrast, the lifetime costs of conditions like spina bifida ($294,000) and cleft lip or palate ($101,000) seem almost negligible.
This study was offered to quantify the cost of banning "second trimester elective terminations for prenatally diagnosed abnormalities." Imagine the public outrage that would greet the publication of a study calculating the cost of not terminating pregnancies if it were broken down into a category such as family income. Although most of our civil rights laws now include "disability" in the litany of prohibited bases for discrimination—along with race, gender, and ethnic origin—our enlightened liberal commitment to diversity appears to go only so far. While we are willing to mandate accommodation to make jobs or public transportation accessible to a person with spina bifida, the social cost of accommodating her birth is increasingly being seen as exceeding her worth.
EUGENICS BY DEFAULT.
This emerging public consensus in favor of eugenics is not the product of any sort of reasoned debate. There has been no referendum, no debate in Congress, no move to amend the Constitution. It's emerging from the collective force of countless decisions by loving and caring mothers and fathers, in consultation with conscientious medical professionals who are using the truly miraculous and astonishing discoveries of brilliant scientists plunging deeper and deeper into the mysteries of life. These people are not intentionally practicing eugenics in order to create a perfect master race. They are simply trying to alleviate potential suffering and protect the quality of the lives they are bringing into the world.
But it is time for us to acknowledge the collective effect of these private decisions. Do we truly endorse the implicit message we are sending to our disabled brothers and sisters—that our commitment to diversity does not extend to genetic diversity? We need to confront the disconnect between how we see ourselves—as an enlightened, liberal society committed to fully integrating people with disabilities in all sectors of life—and how people living with the disabilities we would identify for extinction must see us.
.Perhaps if we honestly confront this disconnect, we could start providing some more informed support to those loving and caring parents who are making difficult decisions in the offices of those conscientious medical professionals. We might tell them that studies show that people living with disabilities judge the quality of their own lives much higher than others expect. We might share with them stories of the incredible grace, joy, and happiness that many parents of children with disabilities experience. And when we hear about parents driven to despair by the difficulties of caring for a child with a disability, we might start asking ourselves how many of those difficulties stem from the erosion of a societal consensus about our responsibility to care for the most vulnerable segments of our society, rather than from the disability itself.
I would not want scientists to stop delving into the mysteries and wonders of the human genome. I am glad that I knew my son had Down syndrome before he was born. If one of these scientists found a "cure" for my son's Down syndrome, I almost certainly would give it to him. But I will admit that I would pause beforehand. I would think hard about this real-life conversation between a teenager with Down syndrome and her mother. The daughter asked her mother whether she would still have Down syndrome when the two were together in heaven someday. The mother, taken by surprise, responded that she thought probably not. To which her daughter responded, "But how will you know who I am, then?" And I would also think hard about whether the world would really be a better place without my son's soft, gentle, deep, almond-shaped eyes.