Will America cull people with Down syndrome?
A new, simpler test just10 weeks into a pregnancy can identify the genetic disorder. Then, a difficult choice.
In mid- October, pregnancy as we know it forever changed in America. The company Sequenom announced that with a simple blood draw at 10 weeks of gestation, a pregnant woman can now learn with near 99% accuracy whether her fetus has Down syndrome.
As a physician in the genetics community, I know that this news brings some welcomed change. With a “negative” result on the new blood test, women might be able to avoid riskier procedures such as amniocentesis or chorionic villus sampling, which involve inserting a long needle through the abdomen of a pregnant woman to obtain a sample of cells that are then tested for a chromosomal condition. In a small number of cases, these procedures can cause miscarriage.
Eventually, the new test will be cheaper, too. Amniocenteses and chorionic villus samplings typically range from $ 1,000 to $ 2,000. Now, Sequenom’s Maternit21 test is being billed to insurance at the same cost, but our marketplace might soon bring that number down as genetic technology becomes less expensive. Difficult questions
With these new tests, however, America also confronts expectant parents with a parade of uncomfortable questions. Currently, only 2% of pregnant women are pursuing chorionic villus sampling or amniocentesis. Now, with the simpler blood test, the percentage of women who might choose to undergo testing will grow, if not skyrocket. As the doctors phone the news of the results, more and more expectant couples will be frantically asking: What does it mean to have a child with Down syndrome? And do we really want to find out?
My research colleagues Sue Levine, Rick Goldstein and I recently surveyed more than 3,000 families nationwide who have a member with Down syndrome. The positive results might surprise some: 99% of parents say they truly love their son or daughter with Down syndrome; 88% of brothers and sisters say they are better people because of their sibling with Down syndrome. People with Down syndrome themselves spoke up, too: 99% are happy with their lives, and 97% like who they are. My sister with Down syndrome certainly does. ( I often wonder: How many Americans can say the same?)
But will this matter? Our society has historically allowed its people to become the final arbiters about their identities: African Americans asserted inherent dignities during the civil rights movement in the 1950s and ’ 60s; women showcased their personal value during the women’s suffrage movement at the beginning of the 20th century; the Jewish people rebuilt and reclaimed identities after the Holocaust; and gays and lesbians are claiming pride through their own civil rights movement of this century. Now, people with Down syndrome— and their families — have joined the debate about their own condition. Like groups before them, their self- descriptions stand in contrast to the ways in which others might describe them. Lives worth living
Athletes such as Patrick Myshrall of St. Peter- Marian High School in Worcester, Mass., are scoring touchdowns. Employees like Louis Sciuto of North Andover, Mass., are among the best workers at Target. Adults like Margaret Muller of Santa Monica, Calif., are living meaningfully, with assistance, in their own homes. No longer are people with Down syndrome “poor things,” “sweet souls” or “retarded citizens.” Instead, they and their families have claimed fulfilling lives, rich with “typical” life experiences. And, yes, according to our same research, even those parents whose children with Down syndrome have more complex medical needs report the same feelings of reward and joy.
I care deeply that patients receive accurate, up- to- date, balanced information so they can make informed decisions. Yet, as a physician, I am not in the business of telling expectant couples what pregnancy decisions they should be making when their fetus has Down syndrome. That is their decision.
But the decision no longer needs to be made in a vacuum, nor should it be made with lingering misperceptions that are still whispered in our society. The medical community has helped create a gold- standard booklet, Understanding a Down Syndrome Diagnosis, with fair and balanced information for expectant couples. For those desiring a more personal view, parent volunteers are standing by 24/ 7 ready to phone, text, or tweet on what it means to have a child with Down syndrome. The resources have been created. The research has been done. The personal connections are here.
Even with all of these tools in place, Americans will need to wrestle with perhaps the most uncomfortable question of all: How many of us are still uneasy with people with Down syndrome and terrified at the thought of raising a child with the condition? Our nation’s answer will be found in our newborn nurseries.