In a groundbreaking move, BioLogic Pharma Solutions has uncovered a significant gap in diagnostic testing for a rare genetic form of autism, Phelan-McDermid Syndrome. This discovery, presented at the American College of Medical Genetics and Genomics (ACMG) meeting in March 2025, highlights the lack of comprehensive SHANK3 gene coverage in many U.S. diagnostic laboratories. The implications are profound: without adequate testing, many patients are receiving false-negative results, leading to delayed or missed diagnoses.
Understanding Phelan-McDermid Syndrome and Diagnostic Challenges
The National Organization for Rare Disorders (NORD) defines Phelan-McDermid syndrome (PMS) as a rare genetic condition caused by a deletion or other structural change of the terminal end of chromosome 22 in the 22q13 region or a disease-causing (pathogenic) variant of the SHANK3 gene.
It is a neurodevelopmental disorder characterized by intellectual disability, speech impairment, and features of autism spectrum disorder. Historically, large chromosomal deletions were thought to account for most PMS cases, but recent research suggests that SHANK3 sequence variants may be more prevalent than previously understood.
Mary Hames, PhD, EMBA, founder and CEO of BioLogic Pharma Solutions, explains, “Our work shows that diagnostic laboratories are not covering this gene, making it impossible for them to diagnose it.”
The prevalence of misdiagnosis in autism spectrum disorders is concerning. For instance, a study by the National Library of Medicine shows that autistic adults, particularly women, are often misdiagnosed with other psychiatric conditions before receiving an accurate autism diagnosis. The lack of precise diagnostic tools exacerbates this problem, as autism is often diagnosed based on behavioral observations rather than definitive lab tests.
Impact on Patients and Families
BioLogic’s abstract’s publication at the ACMG meeting will prompt diagnostic laboratories to improve their testing capabilities. Addressing these gaps can improve diagnostic accuracy, ensure correct diagnoses, and access appropriate care.
For families dealing with the complex journey of diagnosis, this discovery offers hope for more accurate and timely identification of PMS. Early diagnosis is crucial, enabling families to access appropriate interventions and support services that can significantly improve patient outcomes.
Improvements in testing capabilities help to confirm that patients receive the right treatments at the right time. This can lead to better management of symptoms, improved quality of life, and enhanced social and educational development opportunities.
The impact extends beyond individual patients to the broader medical community. As BioLogic addresses diagnostic gaps, it also reduces the number of false-negative results, which can be devastating for families seeking answers. This proactive outlook highlights the company’s commitment to improving healthcare outcomes through strategic partnerships and innovative solutions.
What’s Next: Enhancing Diagnostic Capabilities
BioLogic Pharma Solutions’ abstract represents a significant milestone in the company’s journey as a scientific partner in the pharmaceutical industry. BioLogic has highlighted its ability to drive strategic initiatives beyond conventional consulting roles by uncovering a critical gap in diagnostic testing for a rare form of autism.
This achievement highlights BioLogic’s commitment to improving patient care by tackling key issues in genetic diagnostics. Instead of offering advisory services alone, BioLogic is actively shaping the diagnostic field to confirm patients receive accurate diagnoses and timely interventions.
Hames highlights this collaborative outlook: “We’re not just hired hands; we’re scientific partners committed to finding patients and improving care.”
Through such initiatives, BioLogic reinforces its mission to make a lasting difference in the lives of patients and families affected by rare conditions.