Last month, San Diego-based biotech company Sequenom released its long-awaited early pregnancy test for Down syndrome. Unlike previous methods such as amniocentesis, which carries a significant risk of miscarriage, Sequenom tests fragments of fetal DNA that can be identified in the mother's blood, successfully predicting the presence of Down syndrome in 98.6% of cases, according to a study in Genetics and Medicine.
While some fear Sequenom’s test will lead to social pressure on women to abort babies with Down syndrome, especially because the woman can find out so early in the pregnancy, others are more hopeful, claiming that this knowledge will help parents expecting a child with Down syndrome to prepare and educate themselves before the baby is born. At worst, the test can serve to eliminate choice, as people too often assume a child with Down syndrome is a mistake to be corrected.
The Shape of the Eye: Down Syndrome, Family, and the Stories We Inherit, a recently published memoir by George Estreich, provides the type of intimate, firsthand experiences that parents should hear before considering Sequenom, or at the very least, after receiving a positive diagnosis. Estreich, father of Laura who lives with Down syndrome, raised his child in the days before Sequenom, and yet still, he faced judgment over Laura’s existence:
We had begun, hesitantly, to tell others. And the question, whether spoken or not, was always: Did you test? One mother, when Theresa answered that we had not, asked why not, in disbelief, almost in anger. Her implication was clear: this all could have been avoided (8).
Estreich finds himself pouring through scientific literature while trying to make sense of his daughter’s condition. Yet, in genetic textbooks, he sees only tragic descriptions of Down syndrome that fail to capture the experiences he has had with his daughter – including several hardships, but also joy and happiness. In fact, a recent study by the Children’s Hospital Boston indicates having a child with Down syndrome does not lead to unhappiness in families. Estreich supports this conclusion, “When I was unhappy, it was for the old reasons: insomnia, depression. My genome, my history, not hers” (168).
Estreich also explores popular science books on the genetic future, which frequently celebrate the anticipated erasure of Down syndrome. Estreich reads Ian Wilmut’s After Dolly: The Uses and Misuses of Human Cloning (with Roger Highfield), alongside Lee Silver’s more problematic Remaking Eden, in which Silver predicts (and celebrates) the rise of the “GenRich” and the “Naturals.” Representative of the concerns Estreich raises throughout his book, he states:
After Dolly and Remaking Eden are very different books, but in one way they are alike: Down syndrome, despite all that has been learned, told and amply witnessed, remains an abstraction. It is presented as a technical problem, as an example of genetic abnormality and as an example of the sort of thing reproductive technology can save us from.… If our technologies are to benefit people with Down syndrome, then their lives need to become more real to us. Science can illuminate one part of that reality, and technology can affect it. But only story can convey it (208).
Estreich’s book provides such a story. Choosing to test or not to test and then - following the diagnosis of Down syndrome - to have the child or terminate the pregnancy will never be easy. However, an informed choice is only possible given access to the full range of information. This should include both quantitative data from a scientific and medical perspective, but also qualitative information from lived experiences of parents raising children with Down syndrome, as well as from adults with Down syndrome. There is more to this family decision than can be found in the genome.
Previously on Biopolitical Times:
Posted in Biotech & Pharma, Disability, Emily Beitiks' Blog Posts , Genetic Selection, Sequencing & Genomics
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