Why the New Autism Genetics Statement Matters
NSGC, ACMH and ASHG issue joint statement
The recent release of the new joint statement on autism and the value of identifying its underlying genetic cause from the National Society of Genetic Counselors (NSGC), the American Society of Human Genetics (ASHG), and the American College of Medical Genetics and Genomics (ACMG) represents a step forward for families, clinicians, researchers, and advocates working to improve care for individuals with autism spectrum disorder (ASD).
At its core, the statement reinforces a message the genetics community has long understood: genetic testing can play a meaningful role in helping individuals with autism, and their families, access answers and guide care. Â
The collaboration among NSGC, ASHG, and ACMG reflects a growing commitment across the greater genetics community to support individuals with autism through deeper understanding of the genetic diversity that contributes to neurodevelopmental conditions and resulting evidence-based care.
Why Genetics Matters in Autism Care
Genetic testing can play an important role in autism, although not every individual with autism will have an identifiable genetic cause. When autism is caused by a genetic variant, it may be associated with other medical conditions that require additional evaluation, monitoring, or treatment.
Genetic testing can help identify these underlying genetic causes, providing valuable information that extends beyond a diagnosis. For many families, this information can help guide medical care, inform clinical management, and connect them with appropriate resources and support.
In some cases, identifying a genetic diagnosis can:
- Reveal associated medical conditions that may need ongoing monitoring or treatment
- Help guide clinical management and care coordination
- Provide answers for families seeking to better understand their child's health needs
- Connect families to condition-specific support communities and research opportunities
- Inform recurrence risk and family planning discussions
By identifying clinically relevant genetic findings, testing can help ensure that children receive the care and surveillance they need, which may improve outcomes for both children and their families.
GeneDx’s Commitment to Genomic Insights for Patients with Autism
At GeneDx, our work is grounded in the belief that genomic information can help inform care. For some individuals with autism, genetic testing can identify an underlying genetic condition that may be associated with additional medical concerns, enabling more personalized management and proactive healthcare.
Through decades of experience in rare disease and pediatric genomics, GeneDx has helped demonstrate how exome and genome sequencing can improve diagnostic yield for individuals with neurodevelopmental disorders, including autism.
GeneDx supports guideline-driven genomic sequencing as part of the clinical evaluation for individuals with autism spectrum disorder when autism occurs alongside developmental delay, intellectual disability, seizures, or congenital anomalies1,2,3
Expanding Understanding Through Research
GeneDx continues to contribute to research efforts that are reshaping how the medical community understands autism.
Recent GeneDx-supported research has highlighted the power of large-scale genomic datasets to uncover new gene-disease relationships and improve understanding of autism. The identification of the underlying genetic cause may ultimately support more personalized approaches to care and genomic sequencing is increasingly becoming a valued component of personalized medicine for autism spectrum disorder.
Supporting Families Beyond the Diagnosis
A genetic diagnosis is not simply a laboratory result. For many families, it represents clarity after years of unanswered questions.
One of the most important benefits of genetic testing is its potential clinical utility. Identifying a genetic diagnosis may alert healthcare providers to associated medical conditions that could otherwise go unrecognized. Earlier identification and management of these conditions can help optimize care, support informed decision-making, and improve outcomes for children and their families.
At GeneDx, we recognize that the value of testing extends beyond identifying a variant. Meaningful care also includes:
- Access to genetic counseling
- Clear and compassionate communication
- Ongoing data reinterpretation as science evolves
- Connections to research and support communities
- Collaboration among clinicians, families, and advocacy organizations
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Looking Ahead for Autism and Genomic Medicine
The future of care for individuals with autism will depend on continued collaboration among clinicians, researchers, genetic counselors, advocacy organizations, and families.
This joint statement is an encouraging example of the genetics community collaborating to bring greater awareness to the important connection between autism and genetics.
As genomic medicine continues to advance, the opportunity to identify underlying genetic conditions, guide medical management, and support more personalized care will continue to grow. By helping clinicians recognize associated health risks and connect families with appropriate resources, genetic testing can play an important role in improving outcomes for children with autism and their families.
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References
1. Manickam K, McClain MR, Demmer LA, et al. Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 Nov;23(11):2029-2037. doi: 10.1038/s41436-021-01242-6.
2. Smith L, Malinowski J, Ceulemans S, et al. Genetic testing and counseling for the unexplained epilepsies: An evidence-based practice guideline of the National Society of Genetic Counselors. J Genet Couns. 2022 Oct 24. doi.org/10.1002/jgc4.1646
3. Rodan LH, Stoler J, Chen E, et al. Genetic Evaluation of the Child With Intellectual Disability or Global Developmental Delay: Clinical Report. Pediatrics. 2025 Jun 23:e2025072219. doi: 10.1542/peds.2025-072219.
