GeneDx Expands Exome and Genome Testing Offerings to Include Inborn Errors of Immunity

Rare Daily Staff

Genomic testing company GeneDx said it has expanded its commercial offerings to include inborn errors of immunity, a group of nearly 500 genetic disorders that impair immune function, increasing susceptibility to infections, autoimmunity, and inflammatory conditions.

With an expanded commercial focus on inborn errors of immunity (IEI), GeneDx said it is accelerating patient care with the adoption of exome and genome testing, empowering ordering clinicians with more accurate and comprehensive genetic insights to better treat this patient population.

The company said with the rapid pace of new gene-disease discovery in IEI, exome and genome sequencing are better equipped than panel-based testing to stay up to date with new discoveries in this area. Genomic sequencing provides a diagnostic yield of approximately 40 percent for IEI patients— higher than the percentage yield from multi-gene panels.

With superior diagnostic accuracy and growing reimbursement support, the shift toward an exome and genome-first approach accelerates times to an accurate diagnosis and informs personalized treatment decisions such as bone marrow transplantation, gene therapy, biologic supportive therapy, and Ig replacement therapy. Therapies are available for more than half of the individuals with an IEI.

“GeneDx’s commercial focus on Inborn Errors of Immunity furthers our commitment to providing patients, families, and clinicians with the most comprehensive genetic testing solutions at the times they need it most,” said Britt Johnson, senior vice president of medical affairs at GeneDx. “By transitioning from panel-based testing to exome and genome sequencing, GeneDx will improve diagnostic precision, enabling earlier interventions, and ultimately enhancing patient outcomes by accelerating the path to treatment.”