2025 ACMG Recap: BioLogic Pharma Solutions Presents Discovery on Rare Disease Patient Identification Using Advanced Genetic Analytics

Genetic specialists from across the globe gathered in the halls of the Los Angeles Convention Center last month for the 2025 American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting.

From March 18-22, 2025, the convention center transformed into a hub of genetic innovation. Attendees discussed breakthroughs in new testing methods and diagnostic approaches. BioLogic Pharma Solutions participated in the meeting. The company highlighted a critical blind spot in genetic testing protocols through its investigation of diagnostic gaps in SHANK3-related disorders, a rare genetic form of autism spectrum disorder (ASD).

The Gathering of Genetic Minds

The ACMG annual meeting has long served as the premier forum for clinical geneticists, laboratory directors, genetic counselors, and researchers to exchange knowledge and chart the future of genetic medicine.

This year’s gathering attracted more than 3,000 attendees. Topics included emerging gene therapies and genetic counseling approaches for diverse populations, discussed in interactive sessions held throughout the day. Posters throughout the convention center showcased research findings. Exhibitors also demonstrated new technologies for genetic analysis and data interpretation.

A Spotlight on Diagnostic Limitations

Mary Hames, PhD, EMBA, CEO of BioLogic Pharma Solutions in partnership with Neuren Pharmaceuticals, presented research at the conference revealing major shortcomings in how U.S. diagnostic labs test for SHANK3 variations in Phelan-McDermid Syndrome (PMS).

Her poster presentation, “The Evolving Genetic Landscape of Phelan-McDermid Syndrome and Implications for Diagnostics,” highlighted a major issue. Many labs either omit SHANK3 from testing panels or provide incomplete coverage, making rapid and accurate diagnosis difficult at best, impossible for nearly half of PMS patients.

Phelan-McDermid Syndrome is a neurodevelopmental disorder that causes intellectual disability, delayed or absent speech, and features of autism spectrum disorder. It results primarily from deletions or mutations affecting the SHANK3 gene on chromosome 22.

BioLogic Pharma Solutions reviewed lab protocols nationwide. The team used both traditional and advanced analysis to find testing gaps. They documented which SHANK3 variants each lab could detect and compared these to all known disease-causing variants.

Despite its clinical significance, most U.S. diagnostic laboratories do not perform adequate testing for SHANK3 variants. While labs routinely test for large deletions, many miss point mutations, intronic variants, and small insertions or deletions that can equally disrupt the gene’s function.

This disparity means patients with similar symptoms may receive different diagnoses, depending on the laboratory. For families seeking answers and for researchers recruiting for clinical trials, these gaps create invisible barriers to progress.

Hames adds, “What we’ve discovered is deeply concerning. Most diagnostic laboratories in the U.S. employ testing protocols that miss critical variants in SHANK3. This isn’t merely an academic concern—it means that labs fail to diagnose patients, delay interventions, and exclude potential participants from clinical trials that could transform their lives.”

A Window for Practical Implementation

BioLogic’s research on SHANK3 testing highlights a broader challenge in rare disease diagnosis. Despite advances in genetic technology, many patients still face a years-long journey to get an accurate diagnosis. Mary emphasizes that this is when the 2025 ACMG became more timely. It provided opportunities to exchange insights with laboratory leaders.

Hames advocated for the comprehensive testing of SHANK3 and related genes. While laboratories will incur costs in improving their methodologies, she noted that it is their duty to provide accurate, comprehensive testing that includes all relevant genes.

The 2025 conference highlighted a critical industry challenge: technical capability frequently outpaces real-world implementation. This year’s gathering proved especially significant as the field navigates rapid technological advancements alongside evolving ethical standards.

BioLogic Pharma Solutions used the platform to address the widening gap between scientific possibility and patient experience. The company emphasized how genetic innovations, despite their laboratory promise, often struggle to reach the general public.

“We believe what made our presentation stand out was its actionable nature,” Hames shares. “Many conference presentations highlight problems, but this study outlined specific protocol modifications that labs can implement immediately and impact patients on a practical level. This has been a great opportunity to share our insights and connect with industry leaders, including Katy Phelan, PhD, FACMG, who originally characterized the syndrome and stopped by to check out our important work!”

Through this gathering, medical leaders shifted the conversation beyond theoretical breakthroughs toward practical application, encouraging industry leaders to focus on translating cutting-edge research into tangible patient benefits. Experts are no longer discussing only what is possible. Now, they are debating what leaders should do with advances that seemed like science fiction five years ago.

Hames mentions, “It must not end with just a discovery. The question and task now is how this can reach struggling patients looking to improve their quality of life. At BioLogic we aim to lead in both, recognizing that our advanced capabilities come with a profound responsibility.”

Researchers presented BioLogic’s findings along with many other studies at the 2025 ACMG meeting. As the field grows rapidly, organizers believe that discussion and discovery will continue. There are many new insights to look forward to at the 2026 ACMG.

(Disclaimer: The above article is created by our branded content team in partnership with BioLogic Pharma Solutions. The article is intended for informational purposes only and should not be considered a substitute for professional medical advice, diagnosis, or treatment. Health Shots does not endorse or assume responsibility for the product, service, or information presented. Readers are encouraged to consult their healthcare professional for medical advice.)