By Marsha Michie, PhD and Megan Allyse, PhD
Scientists and bioethicists have been talking a lot recently about CRISPR/Cas9 and related technologies to alter genomes. But the voices of patients and families, especially those with genetic conditions, haven’t been nearly as audible in these conversations about so-called “gene editing”—despite calls for these voices from the National Academies and others.
As researchers who have explored issues around prenatal genetic technologies and their effects in disability communities, we were particularly interested to hear these community voices.
We decided to begin with the Down syndrome community, since this relatively large and active community has been especially vocal about the implications of prenatal testing and other technologies. But even we were surprised at the volume of responses to our online survey.
Last July, we distributed the survey link through our social media accounts and those of a few academic friends in the Down syndrome community, and within a week we had amassed over 1.000 hits. In total, 532 parents of people with Down syndrome finished the survey, and their responses were rich and varied.
Our survey contained five hypothetical scenarios: two “controls” depicting current physical interventions, and three describing interventions to modify, silence, or significantly alter the effects of the extra 21st chromosome that causes Down syndrome. We were, intentionally, a bit vague about precise mechanisms.
What we really wanted to learn was how these parents viewed these potential changes in their child with Down syndrome, and what risk trade-offs they were willing to accept for these “benefits.”
Perhaps the biggest surprise was that, when we gave the participants only a “yes” or “no” option, all five scenarios received at least a 50 percent “yes” response. There was still a good deal of disagreement. However, even though 9 of every 10 parents said that their children and families had a high quality of life, many were willing to consider interventions that came (in our scenarios) with multiple risks. These included changes to the typically friendly and outgoing personalities of people with Down syndrome, along with physical risks and the simple unknowns of new biomedical technologies.
One parent insisted, “The development of such drugs is crucial to the [Down syndrome] community. DS is the most common genetic condition with the least research funding. These children need hope for the future.”
But parents were far from unanimous.
Particularly in the scenarios depicting prenatal and pediatric cognitive interventions, parents’ “yes”/“no” responses differed significantly depending on how they viewed the effects of Down syndrome on their children and their families. Respondents also struggled with ambivalence. Parents wanted to help their children keep up with their peers, avoid stigmatization, and achieve independence as an adult—but, also, to protect their children from side effects and unknown risks.
One parent described the difficulty of weighing risks and benefits, saying, “Down syndrome is a known. Injecting genes to counteract the expression of the extra 21st chromosome is an unknown. What if those genes cause additional, different issues?”
And some parents acknowledged that even though they would now refuse to change their child with Down syndrome, they might have made a very different choice during pregnancy.
However, other parents questioned the entire idea of “treating” the non-debilitating symptoms of Down syndrome. Some were actively offended by the suggestion that Down syndrome was something that needed to be “cured.” In particular, many parents were cautious about the idea of eradicating many of the characteristics of children with Down syndrome—openness, affection, speech and behavior patterns—as if these were ‘disease’ symptoms, rather than examples of human diversity:
“Children with Trisomy 21 are not broken so they don’t need science to fix them,” said one parent.
Several parents suggested that the problem was not in their children but in our society. These parents advocated accepting and celebrating human diversity, rather than fearing it. Others suggested that the real beneficiaries of such treatments might not be the person with Down syndrome, but rather parents, teachers, and others who would be able to maintain their status quo rather than accommodate their child’s special needs. And some parents noted that these potential treatments had larger social implications that need careful examination, with disability communities as an important part of the conversation.
These parents’ perspectives offer us a helpful first glimpse into the views of disability communities who will be impacted by new technologies that may someday radically alter the phenotype, or even the genotype, of affected individuals.
The concerns and ambivalence of the parents we surveyed—along with their interest in being part of ongoing deliberations about these new technologies—help point the way toward social conversations that can guide biomedical discoveries and their implementation.
For more information, read our publication discussing the quantitative findings from our survey’s closed-ended questions, which were recently published in Genetics in Medicine, the peer-reviewed journal of the American College of Medical Genetics and Genomics. Our analysis of the open-ended, qualitative responses is currently under review elsewhere.