Genetic Screening: Doing the Math

Earlier this month a team of researchers at the University of Washington reported it was able to map the entire genetic blueprint of an unborn baby using only a blood sample from the mother—who was just 18 weeks into her pregnancy—and saliva from the father. They believe that this technique will enable them, with 98% accuracy, to screen a fetus for more than 3,000 genetically linked conditions, including cystic fibrosis, muscular dystrophy, and Marfan syndrome. For most of these conditions there is no current treatment or cure. The only way to avoid having a baby with these traits is to avoid bringing the baby to term. In other words, through these tests increasing numbers of unborn children with physical, cognitive, or other disabilities, will either be aborted or die in a petri dish in the fertility clinic.

There is no legal reason these children may not be born, of course, but genetic screening for Down Syndrome is a painful lesson that teaches us how these tests will be used. Today, because of pervasiveness of testing, 90% of children with Down Syndrome are never born! Genetic disability has become a bulls-eye targeting the unborn.  Why would we expect this new battery of tests to be used any differently?

How are we to think about children with disabilities?  First, every human being, regardless of his or her abilities or disabilities, is made in God’s image and likeness (Genesis 1:27-28). That’s why the early church not only forbade infanticide, but established the first orphanages to care for children who were abandoned by their families.

Furthermore, the Bible actually has quite a lot to say about persons with disabilities. The blind, the deaf, the mute, and the lame are often mentioned in one way or another. The Holiness Code, for instance, prohibited cursing the deaf or putting a stumbling block before the blind (Leviticus 19:4). Respect was to be shown instead. Mephibosheth was “crippled in his feet” and “lame” due to being dropped accidentally by his nurse (2 Samuel 4:4; 9:3, 13). The prophet Isaiah taught that despite any impairment, the faithful would receive everlasting blessings (Isaiah 56:3-5). In Jesus’s Parable of the Great Banquet, those who invited “the poor, the crippled, the lame, and the blind” to the feast are told they will be rewarded at the resurrection (Luke 14:11-14).

It is Jesus himself who bids Christians to be hospitable to those who were unwell. In solidarity with the sick, he said to his disciples, “For I was hungry and you gave me food, I was thirsty and you gave me drink, I was a stranger and you welcomed me, I was naked and you clothed me, I was sick and you visited me, I was in prison and you came to me” (Matthew 25: 35-37).  He followed with these famous words, “Then the righteous will answer him, saying, ‘Lord, when did we see you hungry and feed you, or thirsty and give you drink? And when did we see you a stranger and welcome you, or naked and clothe you? And when did we see you sick or in prison and visit you?’ And the King will answer them, ‘Truly, I say to you, as you did it to one of the least of these my brothers, you did it to me’” (vv. 38-40).

Rather than receiving those with disabilities, our culture of narcissism often rejects and abandons them. There are valiant exceptions, of course. Some courageous parents choose to bring their children into the world, lovingly caring for them, despite the diagnosis of a genetically-linked disorder. Society should applaud their self-sacrifice and love, rather than pity them for their supposed naiveté. There may come a time when the ethical means to treat and cure disabilities are available to us. But in this case, the end of not bearing a child with a disability, does not justify the means of ending the life of the child before birth. In other words, when one counts the cost of this new genetic screening method, the moral arithmetic does not add up.

1 thought on “Genetic Screening: Doing the Math”

  1. I would like to add my comment to offer another perspective.  I am the mother of a child with Down syndrome and am of the opinion that the new testing has it benefits. I plan to take one of the new blood tests with my next pregnancy so I can be as prepared as possible for any issues that might arise. With my last pregnancy I had an amniocentesis and was able to find out before she was born that my daughter had DS. My husband and I were able to educate ourselves about DS and connect with local support resources before our child was born. We changed plans to deliver at a different hospital that was better equipped to handle her care, including her surgery at birth for a DS related defect.  I don’t even want to think about what
    would have happened if we hadn’t had the knowledge that we were able to gain from prenatal testing.  I could go on and on about the reasons why I feel it is helpful to be prepared before birth for a child with special needs, but my point is that information itself is neither good nor bad.  It is a matter of what a person does with the information. 
    Before I go on, I would like to comment on the statement that “90% of children with Down Syndrome are never born.” This statement is false and as a mother of a child with Down syndrome it makes me cringe. It bothers me because I think it is harmful to continue to spread false information that may affect how the community views individuals with DS.
    The statement is not accurate in two ways:
    First, when quoting the particular studies that are being referenced, that statement should read “90% of prenatally diagnosed babies with DS are never born.”  Up until this point, the only way to have a prenatal diagnosis was to undergo a CVS or amniocentesis.  We are not talking about the standard blood tests and ultrasounds that many women receive
    a “positive” screen with. We are talking about invasive procedures that pose the potential risk of a miscarriage.  A
    very small proportion of pregnant women choose to undergo these procedures (less than 5%.) A disproportionately large number of these women choose to have these procedures because they intend to terminate a pregnancy with a positive result.Many women who know they wouldn’t abort choose not to risk a miscarriage and decide to wait until birth to find out if the baby has DS. Those women do not have a “prenatal” diagnosis and are not included in those studies.  This tends to skew the numbers making it seem like most women would choose termination.  This is why those studies are misleading.
    Second, the studies that give us the often quoted 90% figure are outdated.  These are studies that were done decades ago when the methods for non-invasive screening were not as advanced. More recent studies show the actual number to be closer to 67%.  Again though, this 67% refers to cases of diagnoses from invasive testing NOT from the standard screening tests or even the new diagnostic technology mentioned here. Even with these more up-to-date figures it is still not accurate to say that 67% of ALL women would choose to abort. Women who forgo the invasive testing are not included in these studies either. I know of many, many women who even choose to forgo the NON-invasive screens because they know they would choose to keep the baby regardless of DS.  We do not have accurate statistics on these cases to give a clearer picture of what MOST people would choose to do. I believe the actual numbers would be even less than 67%. 
    My point in wanting to clarify the numbers is very personal.  I have a daughter with Down syndrome.  I had a prenatal diagnosis.  I chose (after much soul searching) to undergo an invasive procedure to get that diagnosis.  I did so even with the strong conviction that I would be continuing the pregnancy no matter what the results were.  Receiving the news that my daughter would have DS was difficult although I remained strong in my decision to keep my baby.  Until the one moment of doubt I had, although brief, that I might have been making a mistake. This moment came later in my pregnancy when I read the “90% statistic” in an article (misquoted as it is here.)  It absolutely shook me to my core.  I was certainly upset by the thought of all of those lost babies BUT that was not what upset me the most.  I actually questioned if there was something I didn’t know about Down syndrome that the vast majority of other people knew.  Why did almost everyone else not want to choose this life for their child? I questioned whether or not I was being naive. Maybe I didn’t know enough about the condition and if I did then I might think it would be best if my child didn’t have to suffer with it.  Maybe I didn’t realize that Down syndrome is this horrible thing that I didn’t know it was. These thoughts were fleeting and I was able to move past them, but for that brief moment, the thought of being in such a small minority of society made me question my convictions. My point is that as human beings we are influenced by cultural norms.  Social influences can be very powerful.  I believe it could be harmful to perpetuate the notion that most of society would choose an abortion if they find out prenatally that their child will have a birth defect.

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