Genetic Testing Action Day Highlights the Need for Comprehensive Genetic Testing

As Genetic Testing Action Day approaches on July 25, CureSHANK is joining patients, families, healthcare providers, and advocacy organizations around the world in raising awareness about the importance of genetic testing.

For children with developmental delays, autism, intellectual disability, epilepsy, and other neurodevelopmental conditions like PMS, genetic testing can provide answers that shape a lifetime of care. A genetic diagnosis can help families understand the cause of a child's symptoms, guide medical management and insurance benefit authorization, connect them with disease-specific resources, and identify opportunities to participate in research and clinical trials. As precision medicines continue to emerge for many genetic disorders, obtaining an accurate diagnosis is becoming increasingly important.

However, access to testing is only part of the challenge. Healthcare providers need to use genetic testing companies and genetic tests that are truly comprehensive, accurate, and capable of identifying the genetic changes responsible for disease.

A recent poster presented by BioLogic Pharma Solutions illustrates why this matters. The investigators evaluated genetic testing approaches used by multiple U.S. laboratories and found significant differences in their ability to detect disease-causing variants in the SHANK3 gene. The analysis found that some testing approaches miss clinically significant SHANK3 variants because of incomplete gene coverage, limitations in deletion and duplication analysis, or other technical factors. As a result, some individuals with PMS may have received false-negative results despite undergoing genetic testing.

Whole genome sequencing (WGS) is currently the most comprehensive method to accurately diagnose PMS and to test for potential other pathogenic genomic variants unrelated to PMS. 

These findings serve as an important reminder that a negative genetic test does not always mean that a genetic condition has been ruled out. The type of test ordered, the genes included in the analysis, and the technologies used by the laboratory can all influence whether a PMS diagnosis is identified.

CureSHANK calls on all genetic testing providers to ensure that their testing platforms include complete SHANK3 coverage, robust analysis of all deletions and duplications, and methodologies capable of detecting all clinically significant SHANK3 variants. If a test is offered by a company to diagnose PMS, it must be able to comprehensively detect all possible genetic causes of PMS.

This issue is particularly important because many individuals may only have one opportunity to undergo genetic testing. Families often face financial barriers, insurance limitations, long wait times, or a lack of access to genetics specialists. When testing is performed, it should provide the highest possible likelihood of identifying an underlying genetic diagnosis.

As we work to improve access to genetic testing, we must also focus on test quality and completeness. Every missed diagnosis represents a missed opportunity for answers, appropriate medical care, participation in research, and access to emerging precision medicine therapies.

This Genetic Testing Action Day, we encourage families, healthcare providers, laboratories, and policymakers to work together to ensure that genetic testing is not only available, but also accurate, comprehensive, and capable of delivering the answers that patients deserve.