Company suggests genetic testing of embryos can prevent autism
By Louise Kinross
Last week the American health website STAT News identified three 2026 health trends of interest to the disability community.
One was that "Designer babies are en vogue..." they reported in this article. "As the idea of designer babies finds traction in Silicon Valley, it is also resurfacing long running conversations in the disability community. Advocates say giving parents the ability to throw out embryos with higher risk of conditions like Down syndrome is unethical..."
This sparked my interest because I had read about San Francisco-based Orchid, which promises customers "healthy babies" by doing whole genome sequencing of DNA from embryos created for in vitro fertilization, identifying conditions like autism, and discarding affected embryos. "Working to give everyone the ability to have a healthy child" is how Orchid describes its mission.
This is a fascinating, and in some respects disturbing, New York Times interview with Orchid's founder Noor Siddiqui.
I was particularly interested in what the Orchid website says about autism, because I heard a talk in November about the science of autism by two of Canada's leading autism researchers: Dr. Evdokia Anagnostou, director of the Bloorview Research Institute, and Dr. Stephen Scherer, chief of research at The Hospital for Sick Children. You can register here to watch a video of the talk, organized by Autism Ontario.
Dr. Scherer noted that his team found 136 gene changes that have been scientifically linked to autism, and these account for about 20 per cent of cases in their Canada-wide project.
"In our study of more than 4,000 families, 20 per cent of autism cases were linked to genetic causes, such as having only one copy of a brain-specific gene instead of two," he wrote in this Globe and Mail article he co-authored with Dr. Anagnostou.
In this section of its website, Orchid says they can scan embryos for over "200 known genetic typos that cause neurodevelopmental disorders," including autism. It also says 30 per cent of cases of autism have a known genetic cause. This differs from the 20 per cent we heard about in the Autism Ontario talk.
"The 30 per cent number is probably not meant to be specific to autism, but for autism as well as the broader collection of neurodevelopmental conditions it is part of," Dr. Scherer says. "Diagnostic labs and companies often use broader terminology catchments [so] that higher clinical yield statistics are obtained, which helps in their marketing of tests to draw in more clients."
What Orchid does not clearly state on its website is that a person could pay $2,500 for whole genome sequencing of one embryo, and the embryo could show no known genetic change for autism, but the resulting child could still develop autism. "There are a whole lot of autistic kids for whom we have not identified one of these large-effect genetic changes," Dr. Anagnostou says.
Orchid can only screen for the 20 per cent of known genetic variants that cause autism, "not for autism in general," she says.
And Dr. Scherer adds: "There are non-genetic forms of autism so no genetic test will ever be entirely predictive."
To use the tagline "Have healthy babies" is misleading if it means it will prevent your child from having autism. And, of course, autism is not an illness, so it is not incompatible with health.
In her interview with The New York Times, Orchid founder Siddiqui is clear on how she views childhood disability and illness: "...developmental delay, intellectual disability, autism, pediatric cancer, birth defects—all these really horrible things..." I wonder how many children or adults with these conditions she knows personally? I have a son with an intellectual disability, and there isn't anything "horrible" about him.
Siddiqui says she got interested in embryo genetic testing because her mother lost her sight as an adult to retinitis pigmentosa, a group of genetic eye diseases. "What sat with me and what I felt through this experience was just this profound unfairness, right?" she says in The New York Times interview. "This idea that there's this genetic lottery that's unfolding, and some people win and some people lose, and through no fault of their own someone who I love bitterly isn't going to be able to enjoy things like being able to see her grandkids..."
She says that Orchid tests for a number of genetic conditions that cause blindness, including retinitis pigmentosa, and deafness. Siddiqui herself would not exist today had her mother's blindness been eliminated by throwing out her embryo. Perhaps this is a useful way of thinking about how a genetic condition is only one part of a person, not their totality.
Dr. Scherer says that for autism, genetic testing is particularly complicated because of the broad spectrum of conditions it encompasses. A genetic test of an embryo could not reveal the degree of needs or strengths the person might have.
An alternate use of genetic testing could be "to develop tailored interventions and treatments that address some of the symptoms that affected individuals would like addressed, rather than preventing diversity that is valued in our communities," Dr. Anagnostou says.
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