Federal Committee Looks Backward as Autism Science Moves Forward

On the same day that a groundbreaking study in Science shifted autism research into uncharted territory, the federal Interagency Autism Coordinating Committee (IACC) was backtracking, discussing theories that science has previously dismissed. This stark contrast highlighted the disparity between the rapidly advancing field of autism research and the federal committee's outdated strategic plan.

Scientists have now identified over 1,800 protein-protein interactions among 100 autism risk genes, revealing how various genetic changes converge on shared biological pathways. This discovery opens up entirely new avenues for treatment development. Meanwhile, the IACC, during its second meeting, focused on their belief in the vaccine-autism connection, approving a strategic plan that directs federal research funds towards questionable priorities.

Autism science is moving at an unprecedented speed, with significant strides being made in identifying risk genes, understanding their function in cells, and developing effective genetic medicines. In just the past decade, hundreds of genes have been linked to autism, and in approximately 20% of cases, a specific genetic variant can be pinpointed as the primary cause.

Genetic medicines, including antisense oligonucleotides (ASOs), small molecules, and CRISPR editing, are being developed to treat many of these monogenic forms of autism. Clinical trials for monogenic autism, such as those involving SCN2A and UBE3A, have already shown promising results.

However, the draft strategic plan from the IACC pays little attention to these remarkable scientific advances. Instead, it de-emphasizes genetics, genetic medicines, neurodevelopment, and brain biology in favor of a broad medical injury model that does not align with contemporary autism science. The plan devotes significant emphasis to neurodevelopmental regression, affecting only about 30% of autistic individuals, while proposing extensive new research focused on this area.

This prioritization appears to be driven by the belief that vaccines cause autism, rather than by the latest scientific evidence.

The plan's lack of emphasis on genetics and genetic medicines is particularly troubling, especially given the ongoing breakthroughs in this area. For instance, a 50-year-old man with a UBE3A deletion who received an ASO experienced his first word, and a young boy with SCN2A saw a 90% reduction in seizures. These are real, meaningful advancements that demonstrate the potential of genetic medicine to improve the lives of autistic individuals.

The committee's chair acknowledged that identifiable genetic variants account for only about 20% of autism cases, and that ASOs are only available for a small subset. Yet, despite this, the plan gives much more attention to neurodevelopmental regression, which affects only a fraction of autistic individuals. This selective focus raises questions about the committee's priorities and whether they are truly reflecting the direction of current autism research.

Furthermore, despite a significant number of public comments calling for revisions to the plan, including urging greater attention to genetic medicines, the IACC chair refused to postpone voting on the plan until all comments could be reviewed. This decision appears to prioritize the committee's agenda over the input of the autism community.

The IACC chair's characterization of the new strategic plan as a response to a decade of public comments that previous committees ignored is misleading. Previous committees had always heard and considered public comments, but only included those that were scientifically meritorious in their strategic plans. The new plan elevates previously rejected theories, seemingly under the guise of listening to the public, which raises concerns about the committee's commitment to scientific integrity.

The author argues that there is no need to choose between listening to the autism community and following the science. Both are crucial, and the extraordinary scientific advances in autism research provide ample reason for hope. The IACC's role should be to harness these advancements and guide federal research funding towards areas with the greatest potential to improve the lives of autistic people and their families.