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When genetic testing goes wrong

Reporting from The New York Times reveals some prenatal test results have high level of inaccuracy

I started making dad jokes at the first doctor’s appointment for our baby in the womb. My wife’s doctor asked, “What are we hoping for?” My wife groaned when I responded, “A baby would be great, but we would settle for a velociraptor.” She often responded with something along the lines of, “We just want he or she to be healthy.” And my wife’s response is common to many parents who are faced with the mystery of pregnancy and have an innate desire for their child’s well-being. We know something amazing is happening — but we don’t really know how it’s happening, even if we understand biologically what is developing from week to week. And we are faced with the reality that we have basically no control over the process. As Louie Giglio once pointed out in a sermon, the fact that the body knows to divide skin over your eyes into eyelids at a particular point in pregnancy is an incredible mystery. 

Problems of prenatal screening

In the face of this mystery, it makes sense that parents and healthcare providers would desire and perform tests to ensure that the baby is healthy and developing as he or she should. However, recent reporting from The New York Times has cast serious doubts on the accuracy of some genetic tests and reveals concerning trends for Christians. These genetic tests, which screen for genetic diseases ranging from Down syndrome to near universally fatal conditions, were found to be accurate for some conditions (Down syndrome) and wildly incorrect for other, more rare conditions. 

In the latter cases, the Times research concluded that they were producing a false positive 85% of the time, requiring more tests to confirm or reject the diagnosis. The diagnosis brought not only a need for more tests, but often mental and emotional anguish. After more tests, many of which are expensive and often not covered by insurance, parents often learned that their unborn child was perfectly healthy. In some cases, parents took the initial test’s diagnosis as a settled issue and chose to terminate the pregnancy when they considered having a child with a disability. One study found that 6% of patients had an abortion after the positive result without further testing. This mirrors the trend in other countries such as Iceland, where parents have almost completely chosen abortion over giving birth to a child with Down syndrome.

Individual concerns for genetic testing

This all raises an important question about the morality of these tests. Should Christians be performing these tests on their unborn children? In this specific situation, the high number of false positives generated by the tests should be reason for healthcare providers to be clearer about the results and certainty parents can actually receive. Initially, the tests were used to detect Down syndrome, a condition where they can reliably provide a correct diagnosis. 

However, as the Times report notes, companies began to test for other disorders and rare conditions in an effort to sell more of their products. Often left unmentioned in their pitch to parents is the rate of false positives — which is known to the companies — or the certainty with which parents should receive the results for more obscure diseases. Thus, the mystery and wonder of pregnancy and birth has been commodified by these companies, often to disastrous results for both the child and parents. 

However, if the tests were perfectly accurate, Christians may still wonder if they should pursue genetic testing at all. There are two realities at work here, the individual and the societal. At the individual level, a Christian couple who pursues these tests may do so with the desire to prepare for any problems that may arise. And if there are ways to help the preborn baby by preventing disease or correcting issues, then accurate genetic testing could be helpful. 

Also, if a couple receives a positive diagnosis, tests such as these give them time to grieve, prepare, and lament what has occurred. A proper Christian response in the face of the brokenness that comes from some of these diseases includes weeping. We are not Stoics unmoved by circumstances and disconnected from the world and the people around us. Like our Savior, lamentation is appropriate in the face of death and sickness (John 11:36). So for the individual couple seeking only knowledge and how best to love their child, accurate genetic tests are a morally valid option. 

Genetic testing in an abortion culture 

At the same time, Christians must recognize that their decisions are not atomistic or unrelated decisions that affect only the couple. The genetic tests are part of a larger medical landscape in which abortion is an option presented regularly by many doctors and healthcare providers. The history of eliminating vulnerable individuals who are undesirable because of deformity or the idea that they will be “unproductive” members of society has an ugly and bloody history. Earlier generations looked to sterilization of the unfit to improve society. In the present, entire categories of individuals have been almost eliminated because the diagnosis of an extra chromosome leads parents to opt for abortion. 

While the tests themselves are morally neutral, the ends to which they are often employed is not. As such, Christians must recognize that we are part of a larger culture where abortion is not only legal but commonplace and encouraged. Thus, we should be wary of communicating, whether intentionally or unintentionally in word or deed, that somehow the value or life of a child is tied to their physical, mental, or genetic makeup. Participation in the larger system can create a demand for these tests, which then helps fuel their use throughout society, including by those who may not use the test solely for diagnostic and preparatory means. This does not mean that Christians err when we use these tests or are somehow morally complicit in the abortion industry by using these tools, but it does mean that we bear the responsibility for knowing this context and considering these realities when we make these type of moral decisions.

Unfortunately, we live in a time when we are able to test for more than we can treat. And in a society that often values individuals solely for what they contribute, rather than on the basis of their humanity rooted in the imago Dei (the image of God), disease and disability prove ample reason to eliminate them. But Christians must not accept this cultural narrative of the worth of any fellow human being, especially children in the womb who represent some of the most vulnerable among us. 

We can recognize the tragedy that comes from sin’s effects in the world and the myriad ways that disease can cause harm and pain. However, as theologian Josef Pieper once argued, a good summary of love is our affirmation of the statement: “It’s good that you exist.” Christians looking at sonograms and genetic test results, no matter what they are, can affirm the goodness of their child’s existence. In so doing, they reject narratives of utility and power and affirm the intrinsic worth of every individual solely because they have been created by and bear the very image of God.

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