A few weeks ago, two stories crossed paths. In MIT Technology Review, we learned that, for the first time in the United States, researchers had used the gene-editing technique known as CRISPR to modify a human embryo. Several days later, CBS News released a report that through nearly universal prenatal testing followed by selective abortion, Iceland has virtually eliminated Down syndrome.
The CRISPR story shows that we are on the cusp of an enormous leap of capability when it comes to shaping the genetic potential of our offspring. Meanwhile, I’ve contended that the past decades of testing, genetic consultation, and decision-making about abortion related to prenatal diagnoses of Down syndrome have served as a kind of test run for the future of human procreation. Can we make informed choices? Can we understand that probability doesn’t equate to outcome when we’re talking genetic makeup? Can we use science to build a more just, happier humanity?
If what’s happening in Iceland is, indeed, a test run, it’s a test we’re failing. Prospective parents are making decisions based on fear and stigma, helped along by the medical profession. As our tools to make such decisions get even more powerful, we have to shift how we talk about genetic diversity.
Cards on the table: I’m the father of a boy with Down syndrome. I am pro-choice, anti-eugenics, and pro-information. In preparation for the age of CRISPR, we’ll need to develop new ways to talk about what’s normal and what’s good, because we face decisions that are nearly unprecedented in human history. I say nearly, because with Down syndrome prenatal testing, we have a body of evidence for what happens when we expand our power to determine who gets born without building systems to ensure that we make informed decisions.
CRISPR (short for Clustered Regularly Interspaced Short Palindromic Repeats) is wickedly powerful. It makes reasonably precise changes to a targeted cell’s DNA by means of a technique adapted from naturally occurring DNA-editing defense mechanisms in bacteria. Chinese scientists first modified human embryos two years ago. The researchers in Oregon used it to change the DNA of a large number of one-celled embryos with the goal of demonstrating both that the technique could be used at scale and that the genes causing disease could be effectively identified and eliminated.
Each new development, as previously covered in The Nation, sparks rounds of debates between those optimistic about fighting diseases and those concerned about implications. For example, sickle-cell patients hope for a cure, while the intelligence community worries that terror groups could weaponize CRISPR. Earlier this year, the National Academy of Sciences, Engineering, and Medicine agreed that genome editing could be used to modify embryos, but “should be allowed only for treating or preventing diseases or disabilities at this time.” Ethicists demand more robust engagement of the questions we are about to face, as techniques move from the research to the practical stage. Still, most of the debates remain locked in abstract thought experiments.
Prenatal testing followed by selective abortion is not genetic engineering. It is, however, a space in which we have real-world data about how people make choices about procreation when granted additional information about the genetic makeup of their potential offspring. It turns out, perhaps unsurprisingly, that fear, misinformation, and bias shape our decision-making.
Take Iceland. In the small island country, all pregnant women are informed of the availability of genetic screening. Between 80 and 85 percent take the test, and nearly 100 percent of all positive tests for Down syndrome result in termination. What are we to make of such an outcome? Each person hearing the words “Down syndrome” applied to their fetus does so as a consumer of a culture that, broadly speaking, denigrates life with developmental disabilities. Geneticist Kari Stefansson characterized the counseling as “heavy-handed” in favor of termination, and so that’s where the momentum is. If Icelandic doctors, nurses, and genetic counselors don’t find ways to mitigate that, the disability largely disappears.
This is typically the moment in essays about prenatal testing in which I assure you that my son is happy. He is. He’s 10. He likes Hamilton and Harry Potter, and is a wonderfully inventive communicator. We are privileged to live in a good community with good schools, and when we encountered obstacles to his long-term supports in one state, we could move. We’ve never denied that there are challenges, but the greatest ones are constructed by an ableist society, not inherent to his disability. Society can be changed. His genes don’t need to be.
But the decision whether or not to terminate is not about my son’s outcomes, but accepting two general principles. First, with good social supports, there’s no reason that people with Down syndrome can’t lead good lives included within communities. For a doctor to assert the probability that Down syndrome leads to despair is simply not true. Second, in general, probabilities never guarantee outcomes. Our genes encode an array of probabilities into our bodies.
In recent years, rather than focusing on the abortion itself (or decision to carry to term), North American activists in Down-syndrome advocacy communities have tried to look at the communication in the period between the positive test and the decision about whether or not to terminate. The goal is to provide materials to better inform the tens of thousands of doctors, nurses, and counselors who encounter women in the context of prenatal testing. These efforts have coalesced around the nonpartisan rubric: pro-information.
I e-mailed Stephanie Meredith, Lettercase program director at the University of Kentucky’s Human Development Institute, where she has helped develop resources for distribution to people who talk to women about prenatal testing. She told me that “many genetic counselors and obstetricians offer compassionate, sensitive, and balanced support following prenatal testing,” but “some clinicians may provide insufficient, outdated, or unintentionally biased counseling.” Outcomes for people with Down syndrome and related conditions have changed remarkably over the past 50 years. But too many people involved in prenatal care lack up-to-date information, and there’s no easy way for institutes like Meredith’s to reach every clinician in the country. Meanwhile, companies selling prenatal tests want to increase their market share. Meredith said that clinicians “are constantly inundated by marketing from testing labs with very little educational support regarding the conditions included in the test.”
I’ve spent years talking to parents who received prenatal tests (we did not). Some were told flatly untrue statements about Down syndrome, breaking up marriages and leaving families overwhelmed by stress. In fact, there’s evidence that families like mine divorce at lower rates than other families. Others were presented with outdated statistics about early death as a likely outcome. It’s not (although the premature death rates of African Americans with the condition remain far too high). It’s true that people with Down syndrome once tended to die young and learn little, but that’s a fact linked to the era of mass institutionalization. Inclusion has radically changed the probabilities. My son has as good a chance to live as long, happy, productive life as anyone of our socioeconomic status. But expectant parents hearing the words “Down syndrome” for the first time will only know this if they’re told.
Unfortunately, politics is making it hard to hold the pro-information coalition together, thanks to American anti-choice efforts. Around the country, the GOP is proposing and passing laws banning abortion if a woman tells her doctor she’s doing it because of a prenatal diagnosis. We can’t be pro-information if we criminalize such conversations. Such a bill is pending right now in Ohio.
What does all this have to do with CRISPR? Right now, we’re still in a liminal state when it comes to predicting genetic outcomes for fetuses. Our tools, from amniocentesis (developed in the 1950s and ’60s) to contemporary screenings that locate fetal blood cells in the mother’s bloodstream, are reactive and postconception. Soon, they’ll shift to preconception and proactive. What will the tens of thousands of clinicians tell would-be parents as they get flooded with messaging from companies eager to sell their high-tech CRISPR product lines?
Preventing this potentially dystopian future where altered genes separates the haves from the have-nots starts by shifting discourse. A pro-information approach demands that everyone involved in genetic counseling have access to the best data and presents it in a value-neutral way. We must build systems now that grow as our tools evolve. If we do not, genetic diversity will gradually become code for poverty, and new stigmas will run all the way to the DNA.