Federal Committee Looks Backward as Autism Science Moves Forward

On the very day that a landmark study was published in Science, pointing autism research toward an exciting new scientific frontier, the federal Interagency Autism Coordinating Committee (IACC) was looking backward, discussing hypotheses that science has already extensively investigated and largely discarded.

The contrast was striking. Scientists mapped more than 1,800 protein-protein interactions across 100 autism risk genes and showed that different genetic changes converge on shared biological pathways, opening entirely new avenues for treatment development.

Meanwhile, members of the federal IACC, at its second meeting, shared stories about their belief that vaccines caused their children’s autism. They approved a strategic plan that directs limited federal research dollars toward scientifically questionable priorities.

Autism science is moving forward at extraordinary speed, from identifying risk genes, to understanding what those genes actually do inside cells, to developing effective genetic medicines. At precisely this moment of unprecedented scientific opportunity, our federal autism research strategy should be looking forward, not backward.

The newly approved IACC strategic plan does not reflect where autism science is today. Over the past decade, research has produced extraordinary advances in our understanding of the biology of autism. Hundreds of genes have now been associated with autism, and in approximately 20% of autistic individuals, a specific genetic variant can be identified as the primary cause of their condition. Genetic medicines (including antisense oligonucleotides [ASOs], small molecules, and CRISPR editing) are being developed to treat many of the monogenic forms of autism. Results of human clinical trials in monogenic autism, including SCN2A and UBE3A, are already showing promising results.

At a presentation at the last International Society for Autism Research meeting, we learned that a 50-year-old man with UBE3A deletion who was dosed with an ASO spoke his very first word. I burst into tears. In a recent SCN2A trial, a young boy experienced a 90% reduction in seizures. This is very real, very meaningful progress. And it’s only the beginning.

Surprisingly, the draft strategic plan gives little emphasis to these tremendous scientific advances. Despite what committee members said about genetics being included in the plan, it simply isn’t; not in the draft any of us at the Autism Science Foundation read. The document de-emphasizes genetics, genetic medicines, neurodevelopment, and brain biology in favor of a broad medical injury model that is not consistent with the direction of contemporary autism science.

In fact, in response to public comment urging greater attention to ASOs and other genetic medicines, the IACC chair noted that identifiable genetic variants account for “only about 20% of autism cases” and that ASOs are only available for “a tiny subset.” Yet the plan devotes extraordinary attention to neurodevelopmental regression, which affects only about 30% of autistic individuals, and proposes substantial new research infrastructure focused on understanding it. If prevalence is a reason to minimize one promising area of research, it is difficult to understand why the same standard is not being applied to the plan’s own priorities.

Parents report that children with autism lose skills at all ages, including during toddlerhood, and through adolescence into adulthood. The new plan puts considerable emphasis on finding medical causes of early childhood regression (immune, metabolic, mitochondrial, infectious, gastrointestinal) but does not give comparable prominence to regression as a manifestation of the underlying genetics and neurodevelopmental biology of autism itself.

We can read between the lines. Committee members’ comments make clear that this framing is intended to justify further research into vaccines as a cause of autism, despite decades of research and dozens of studies finding no causal link between vaccines and autism.

Also, despite a significant number of public comments calling for substantial revisions to the plan, and the fact that thousands of pages of public comments were not distributed to committee members until the night before the meeting, the IACC chair completely shut down efforts by committee members to delay voting on the plan until all the comments could be read and considered.

The IACC chair said several times that the new strategic plan was based on a decade of public comments that previous IACC committees had ignored; a characterization that fundamentally misrepresents how those committees evaluated public input. Public comments were always heard and considered, but the committee has a responsibility to evaluate them against the scientific evidence.

When commenters and committee members repeatedly argued, for example, that vaccines cause autism, previous committees did not include that hypothesis in the strategic plan because decades of research did not support it. That isn’t ignoring the public; that is how a scientific advisory committee is supposed to work.

What is particularly troubling about this new plan is that ideas previously considered and rejected because they lacked sufficient scientific merit are now being elevated into federal research priorities under the guise of “listening to the public.” Public comment is enormously important, but a scientific strategic plan cannot be a tally of which ideas have been submitted most often or most passionately. The IACC’s responsibility is to listen to the community and then use the best available science to determine which research questions are most likely to advance our understanding of autism and improve the lives of autistic people and their families.

We do not have to choose between listening to the autism community and following the science. We can and must do both. Families and autistic people urgently need better services, supports, interventions and treatments, and the extraordinary scientific advances happening right now give us more reason for hope than at any point in the history of autism research.

The role of the IACC should be to harness that momentum: to bring scientists and the community together around the most rigorous evidence and the most promising opportunities for improving lives. Instead, this plan risks spending precious time and limited federal research dollars relitigating questions science has already answered while transformative new discoveries are unfolding around us.

Autism science is moving forward. Our national autism research strategy should be leading that progress, not looking backward.