GeneDx has announced the launch of its Autism Partnership Program, a new initiative designed to broaden access to exome and genome sequencing for individuals with autism spectrum disorder (ASD), with a specific focus on SHANK3-related cases and Phelan-McDermid syndrome. The program is being established in collaboration with Jaguar Gene Therapy, which joins as the founding partner.
Although clinical guidelines recommend genetic testing for individuals diagnosed with ASD, access remains inconsistent across populations. Many families experience multi-year delays before obtaining a definitive genetic diagnosis, which can limit early intervention and participation in clinical studies.
The Autism Partnership Program seeks to address these inequities by reducing financial and logistical barriers to testing. Under the initiative, patients with clinical suspicion of Phelan-McDermid syndrome or SHANK3-related ASD will be eligible for exome or genome sequencing through GeneDx. Costs will be covered by Jaguar Gene Therapy for patients with Medicare, Medicare Advantage, or without commercial insurance coverage.
Behind every autism diagnosis is a family searching for answers. Genetic testing can illuminate the ‘why’ – transforming confusion into clarity and opening doors to the right care. Far too many families still wait too long or never gain access at all to the answers that can change lives. Our Autism Partnership Program is designed to change that – helping reduce inequities and deliver insights that can improve outcomes. The collaboration with Jaguar Gene Therapy is a powerful example of how we’re working with biopharma partners to expand access and translate the answers we uncover into tomorrow’s breakthroughs.
Lisa Gurry, Chief Business Officer of GeneDx
A single pathogenic variant or deletion in the SHANK3 gene represents one of the leading single-gene causes of ASD and is the defining feature of Phelan-McDermid syndrome (22q13.3 deletion syndrome). The condition is estimated to affect approximately 1 in 10,000 individuals. Recent genomic studies suggest SHANK3 variants may be present in 0.5–0.69% of individuals with ASD, corresponding to an estimated 46,000 people in the United States, including roughly 10,000 children. Despite this prevalence, underdiagnosis remains common due to limited access to genetic testing.
We’re proud to partner with GeneDx to expand access to exome and genome testing for individuals with clinical suspicion of SHANK3-related autism spectrum disorder and Phelan-McDermid syndrome with the aim of shortening the diagnostic journey. The SHANK3 gene’s role in autism underscores the urgent need to broaden the use of genomic sequencing and for those with Phelan-McDermid syndrome to enroll in natural history studies to better understand the condition and support the development of targeted therapies.
Joe Nolan, CEO of Jaguar Gene Therapy
According to multiple studies, an identifiable genetic cause can be found in approximately 16% of individuals with autism. More than 800 genes have been implicated in ASD to date, highlighting the complexity and heterogeneity of the condition. The availability of large-scale genomic testing not only facilitates earlier diagnosis for families but also contributes to research aimed at characterizing autism’s diverse molecular subtypes.
For individuals with autism, genetic testing can be truly life-changing – providing answers that open doors to community, care guidelines, and emerging treatment options. Yet, far too many children with genetic conditions like Phelan-McDermid syndrome never receive a diagnosis simply because they lack access to testing. The Autism Partnership Program is an important step toward reducing disparities in access and ensuring more equitable opportunities for families to benefit from precision medicine. We’re deeply grateful to Jaguar Gene Therapy and GeneDx for their leadership in establishing the first sponsored genetic testing program for autism.
Geraldine Bliss, President of CureSHANK
To be eligible for the Autism Partnership Program patients must meet certain criteria, including the following:
- Patient must reside in the United States;
- Patient’s ordering provider must be authorized under applicable law to order genetic testing in the United States;
- Patient must present with moderate to severe development delay, intellectual disability, ASD, or autistic like behavior with clinical suspicion of Phelan-McDermid syndrome;
Additional eligibility criteria apply.
Additional eligibility criteria apply.