Chris Kaposy warns of the social implications of noninvasive prenatal testing for Down syndrome.
At the end of October 2013, a federal judge in the United States ruled that a patent on an early noninvasive prenatal test for Down syndrome was invalid. The biotech company marketing the test, Sequenom Inc. of California, experienced a large drop in the value of its stock. An appeal of the ruling is expected, but competing companies such as Ariosa Diagnostics, Natera, and Verinata are now a step closer to bringing to market their own noninvasive prenatal tests for Down syndrome.
The Sequenom ruling is a consequence of the United States Supreme Court’s Myriad Genetics ruling in June 2013 that human genes may not be patented. Though the issue of human gene patents is interesting and controversial, it is not my concern here. Instead, I would like to discuss what the Sequenom ruling and the development of early noninvasive prenatal testing mean for people living with Down syndrome.
In contrast to the Sequenom test, other prenatal diagnostic tests, such as amniocentesis or chorionic villus sampling, carry a risk of miscarriage. Amniocentesis, the most common of these two tests, involves the extraction of fetal cells from the amniotic fluid with a needle. It is usually performed between the 15th and 20th week of pregnancy and there is a 1 in 200 chance of miscarriage. These new noninvasive prenatal tests – such as the one developed by Sequenom – give pregnant women the option of an accurate maternal blood test early in pregnancy for detecting Down syndrome that does not carry a risk of miscarriage. Because of their accuracy and safety, the noninvasive tests might replace amniocentesis in the future.
There is reason to believe that Sequenom’s loss of patent protections will allow Sequenom’s competitors to enter the market. This, in turn, will drive down the costs of testing, which may then increase the number of women who access the new tests. What will this mean for people with Down syndrome? I will answer this question in a roundabout way.
Prenatal testing for Down syndrome is big business. Before Sequenom’s test was ready for use in 2011, the company’s CEO stated that the market for such a test in the United States alone was $3 billion, and that worldwide the test could tap into about $8 billion (here). A noninvasive diagnostic test could capture the current demand for prenatal testing, as well as create a new market. At present, many women refuse prenatal testing because of deficiencies with the current testing options. For instance, the availability of a noninvasive diagnostic test for Down syndrome could be appealing to women who currently refuse prenatal testing because of the riskiness of amniocentesis. An increased uptake of prenatal testing for Down syndrome could lead to an increase in selective termination for Down syndrome. The best available data suggest that women terminate their pregnancies around 67% of the time when they find out that the fetus has Down syndrome.
There is reason to believe that the decision to undergo testing, and to end an affected pregnancy is often motivated by bias against people with Down syndrome. The point is essentially this: bias against Down syndrome is common in our culture – just think about the varied contexts in which you have heard the slur “retard” or “retarded”. Barack Obama once joked on the Jay Leno show about how he bowled like someone from the Special Olympics. It would be very odd if this bias did not influence decisions on whether to give birth and parent a child with Down syndrome. This is not to say that all such decisions are motivated by bias, but this way of thinking is common, and must be a factor on a population-level in prenatal decision-making.
The consequence for people with Down syndrome of the increased uptake of prenatal testing for Down syndrome is the normalization of bias against them. The ease of testing for Down syndrome, provided by these new noninvasive tests, contributes to normalizing biased choices to test for and terminate pregnancies affected by Down syndrome. The normalization of the test makes the bias normalized too – makes it seem acceptable. Prenatal testing for Down syndrome, which typically leads to selective termination if a fetus is diagnosed with Down syndrome, is endorsed by medical professionals, by the medical system and its funding arrangements, and by public health thinking. It is also supported by biotechnological innovation and the imperatives of capitalism. All of these institutional structures support a form of bias against people with Down syndrome. People with Down syndrome and their immediate and extended families have to live in this atmosphere of bias.
In memory of Adrienne Asch (1946-2013).
Chris Kaposy is Assistant Professor of Health Care Ethics at Memorial University of Newfoundland. Twitter: @ChrisKaposy
I got this test done because my baby had soft markers for Downs. It was never with any intention of abortion, but preparation in case she was, in fact, born with Downs. She ended up not having it, but had she had it, I’d have been glad to know in advance.
Thankyou for your thoughts on this, I wholely agree with it all. I have a sister who has Down’s syndrome and am currently training to be a midwife in the UK. I feel it will be a lifelong journey for me conserning the screening for DS and hope that one day it will be recognised as on a par with ethnic cleansing. In the meantime I will do all I can to make sure that people with DS continue to be on this planet with us, they are beautiful…what would the world be like without them?
How many NIPTs were performed in Canada in 2012 and 2013?
$3 billion in US? Mind blown.
Thank you for raising the ethical issues and social implications of prenatal testing for down syndrome. I have worked for over 20 years with children with varying needs. My life is enriched by knowing children and families with a wide variety of backgrounds and conditions. As it becomes politically incorrect to voice certain biases, I’m appalled to see that other biases, particularly against genetic conditions, are becoming more acceptable. While many people in North America deplore the practice of prenatal gender selection which is fairly common in some other countries, I don’t see any difference between that and the elimination of down syndrome through prenatal selection. What next? Prenatal screening for eye colour? Sounds vaguely familiar… I agree with “the measure of a civilization is how it treats its weakest members.”