Chris Kaposy recommends that governments considering public funding for noninvasive prenatal testing take heed of the problem of discrimination against people with disabilities such as Down syndrome.
Beginning in 2011, a new generation of prenatal genetic tests became available. These tests are highly accurate in determining whether a fetus has Down syndrome or a few other genetic conditions. Often referred to as noninvasive prenatal testing (NIPT), these tests require only an analysis of a maternal blood sample. NIPT is almost as accurate as invasive tests, such as amniocentesis, which involves inserting a needle into the pregnant person’s belly and extracting amniotic fluid; however, NIPT does not carry the small risk of miscarriage associated with invasive tests. As the use of NIPT increases, concern grows that it may enable discrimination toward people with Down syndrome.
Down syndrome is a genetic difference that is consistent with living a good life. People with this condition typically enjoy their lives, and their families thrive. Yet when Down syndrome is detected prenatally through the use of genetic testing, the vast majority of prospective parents choose to terminate the pregnancy. Because of this high rate of abortion, genetic testing that is designed to identify fetuses with Down syndrome can be seen as discriminatory toward people with this condition. In a recent study, a majority of participants identified “discrimination against people with disabilities” as a challenge to implementation of NIPT as a part of prenatal care. The diverse study participants were knowledgeable about NIPT and included health care professionals, social science researchers, disability rights advocates, and cultural or religious community rights advocates. (I was a participant in this research.)
Is NIPT discriminatory? People who have Down syndrome as well as their family members and advocates could easily draw this conclusion. As these tests gain in popularity, it can seem as though the biotech companies that manufacture and market these tests are satisfying the demand of a vast market of people determined to avoid bringing people with Down syndrome into the world. Everyone involved knows that prenatal diagnosis of Down syndrome typically leads to abortion: geneticists, fetal medicine specialists, family doctors, policy-makers and biotech executives. Yet, NIPT manufacturers continue to devote research and development funding to perfecting tests that make it easier for prospective parents to make this choice. Members of the Down syndrome community seem justified in viewing themselves as the target of a movement, spurred on by powerful interests, to eliminate people like them from the population.
At present, Ontario, British Columbia and Yukon offer public funding for NIPT in limited circumstances, and Quebec is starting to offer coverage as well. Access guidelines in Ontario state that the Ontario Health Insurance Plan “will currently fund non-invasive prenatal testing (NIPT) for pregnant patients considered to be at high risk” for Down syndrome and a handful of other genetic conditions. In addition, NIPT is available to prospective parents who pay out of pocket. There is discussion, however, about whether public funding for NIPT should be extended beyond the current availability categories and to other provinces and territories. What is the best way to design access to NIPT in order to avoid discrimination?
Provincial and territorial governments might decide to cover NIPT in all pregnancies, instead of offering coverage only when the pregnant person is determined to have a high likelihood of carrying a fetus with Down syndrome, as is the case currently in British Columbia and Ontario. If NIPT is covered by public funds, physicians and midwives might feel the need to offer the test routinely to all of their pregnant patients — NIPT would become the de facto standard of care. An offer of a test from a physician or midwife is easily perceived as an endorsement. If NIPT is offered to everyone, many would see it as a test that they should agree to because they may assume that clinicians offer only tests that are meant to detect serious health problems; they would not test for trivial things. Down syndrome would become cast as a serious health problem, and prenatal care would offer a “solution” by enabling prospective parents to eliminate fetuses with this “problem.”
The least discriminatory option is for governments to refuse to expand coverage for NIPT. If provincial and territorial governments maintain the status quo and NIPT is accessed primarily through out-of-pocket payment, then governments and the health care system cannot be seen as implicitly or explicitly endorsing these tests. To be sure, other values beyond the avoidance of discrimination are relevant to decisions about the implementation of NIPT. The accuracy and safety of NIPT, due to the avoidance of the risk of miscarriage, make it an improvement over other prenatal screening tests. But an implementation process that takes ethical values into account must question whether it is worth encouraging the use of a test that is considered discriminatory toward people with Down syndrome.
Chris Kaposy is an Associate Professor of Bioethics at Memorial University, and author of Choosing Down Syndrome: Ethics and New Prenatal Testing Technologies (MIT Press). @ChrisKaposy
A longer version of this commentary was originally published in Policy Options