Prenatal Genetic Testing, and Down Syndrome

Lots of people don’t understand prenatal genetic testing, including both patients and doctors. For instance, many people think that the BUN genetic ultrasound or the “Quad screen” or the prenatal AFP tests can tell whether or not a baby has a genetic anomaly (they can’t; they can only indicate whether a fetus has an increased risk for a genetic anomaly), or that the tests are accurate in predicting whether or not babies have Down Syndrome (they’re not; only about 5% of mothers who test positive with standard methods actually have a baby with Down Syndrome, and even with the latest cell-free DNA method the proportion only goes up to 45%. An invasive procedure such as amniocentesis or CVS is necessary to confirm the accuracy of such testing).

A study in last week’s JAMA attempted to find what would happen if women were given a “decision support guide” to help them understand prenatal genetic testing. I doubt very much that the guide was slanted against genetic screening; yet when women were given more complete information than what is given in “usual care per current guidelines,” less women opted for genetic screening or invasive testing.

This study implies, of course, that “usual care” means that doctors are usually not fully informing women about these tests. And that is understandable, if not excusable, within the confines of a busy clinic schedule. It is much easier and quicker to say, “Do you want testing to see if your baby has any genetic defects?” — or, worse yet, “You need to get genetic testing because you’re over age 35″ — than to try to explain what is meant by “risk,” and that a positive result means almost nothing more than “You will need another test to interpret the result of this test.”

But if doctors don’t have enough time, or are not trained well enough or whatever, to give informed consent for testing that can have life or death consequences, if our usual and customary care is to do this testing without informed consent, then why is this testing considered standard of care?


On a separate but not unrelated topic,in a commentary published in Wednesday’s Chicago Tribune, a mother of a girl with Down Syndrome writes of the lessons she hopes her son will learn because he is growing up with a sister who has Down Syndrome. Here is an excerpt:

He will have a broader perspective of what “normal” is than most of his peers. Hearing his own sister being referred to as the “R-word” will enable him to teach those around him that it is wrong to dehumanize others with such offensive language. He will remind people that his sister has the right to be valued, respected and accepted — just like anyone else. He will be courageous and strong and will not allow bullying to be tolerated.

He will recognize that the diagnosis, condition or illness does not define the individual. It is simply a part of what makes him or her unique.

I hope this snippet will encourage you to read the entire article.

A Genetic “Fix” for Down’s Syndrome?

A couple of weeks ago I mentioned some of the thoughts presented at the July Summer Conference hosted by the Center for Bioethics and Human Dignity—thoughts I am still processing in the afterglow of an enjoyable and stimulating few days. Much has re-shaped my thinking on a host of issues, to which I alluded previously. But there was one nugget that remains with me, nagging at me, even as it was presented as a rather small bit of fresh information in a larger context of bioethical analysis of prenatal diagnosis. In a workshop session led by the estimable David Prentice, formerly a faculty member at Indiana State University and now a Senior Fellow with the Family Research Council, it was mentioned that American scientists have been successful in experiments to eliminate the “third gene” that is found in various “trisomy” disorders. This, of course, is most commonly seen in Trisomy 21, the genetic abnormality responsible for Down’s syndrome. The process, perhaps best described in an article in The Guardian, essentially inactivates the third chromosome, the one that makes a crowd out of an otherwise happy pair, in a process that is similar to what happens in normal meiosis, where the female gametes are formed and a non-functioning Barr body is produced. In typical British style, and in reality, the science is described as “elegant,” and is worth a look.

My first impulse on hearing this news was joyous relief. For as long as amniocentesis has been commonplace, the default position of genetic counselors when guiding those with a diagnosis of Down’s has been one of pregnancy termination, of abortion of the fetus that would suffer the mental and physical tolls of Down’s. Now that we can fix it, I thought, these babies can live. If we view genetic disorders as the fallout from a world where brokenness pervades all of creation as the result of sin, then a “fix” is a manifestation of God’s grace to make straight what has been made crooked by the Fall. It is a good thing, and I can view it as such. But what if we find a way to “eradicate” trisomy 21 and Down’s syndrome, even as the technology is still quite nascent and the fix quite tentative? Is that an altogether good thing, to see a future free of people who suffer Down’s?

I used the word “suffer” when describing someone with Down’s because it is a descriptor that is common, provocative, and almost entirely wrong. Certainly the medical issues associated with Down’s are real, the cardiac and gastrointestinal problems, the increased risks of cancer and dementia. Yes, Down’s syndrome is linked with numerous medical maladies—ones that made a thirty-year old adult with Down’s a rarity just a generation ago. Individuals certainly live longer today, blessed by improved medical technology. But do they flourish? I think of my prayers for my children when they were infants: protect them, of course, but most of all, keep them devoted to God through their lives, let their eternity be inextricably linked with their Savior. I would rather their earthly lives be significant than they be happy, to be completely honest. And I reflect on my experiences with those who have Down’s syndrome. I have yet to meet one who seems to typify “suffering.”

So we may someday, perhaps sooner than we can imagine, be able to eliminate trisomy 21 with a genetic “zap.” Will the child whose chromosome count has been normalized be a very different one from the one who has not had genetic intervention? I think of an 18-month old I met this week, who sat in his stroller as I examined the new puppy his parents just adopted. They looked like many parents of children with a mental disability, who have learned to accept the modification of their dreams for a child and who, so sadly, must somehow justify their decision to even bring this child into a judging world, given the options. But as I do the checkup on this bundle of puppy energy, they could see the same smile I could see, one that is more manifestly beautiful than that from a “normal” child in how it processes the unfolding scene. I can’t quite describe its wonder and delight. This smile was a mark of grace in a seemingly graceless world, one that God has supplied to a youngster created in His image and whom He has declared will someday judge the angels. I would have missed that if this little boy had been “fixed” by a genetic repair.

I think of my cousin, now in his mid-thirties, who has faced so many medical issues, and who has so challenged the lives of his parents. I have, sadly, struggled to connect with him over the years, because I cannot relate to his experiences and cognitive abilities easily. It is only in recent years that I see what I’ve missed. The middle of three brothers, he is the one who has been best able to find a true sense of pure worship toward God, one that has become clouded by cynicism (at least for now) in his high-functioning, articulate siblings. Would I wish an easier ride for my aunt and uncle, and for anyone with a special needs child in a society that values the capabilities of an individual above all else? Of course. But how serious have I been in my prayers that my children develop a deep spiritual devotion—would I exchange their future college and career and social success for it? If they were never to inculcate this devotion, would I sacrifice all the “normal” stuff and hope for a child with a lower IQ, a host of medical challenges, and a heart that embraces God?

None of us will ever know what would have happened spiritually, or in the degree of happiness and earthly success, if those with mental disabilities like Down’s had been rendered “normal.” I initially rejoiced at the happy thought that Down’s syndrome and similar issues would be cured someday. In the weeks that have passed, I have found new ways to grieve the potential loss of these individuals in our world, individuals who have made it a richer place for being here. Is it ethically wrong to wish an end to genetic aberrations? I think not. Is it ethically wrong to appreciate the diversity of God’s blessings that transcend a fallen world? Increasingly, I find it isn’t.