GeneDx Expands Exome and Genome Testing to Include Inborn Errors of Immunity
GeneDx (Nasdaq: WGS), a leader in genomic diagnostics, has announced the expansion of its commercial focus to include Inborn Errors of Immunity (IEI). IEIs are a group of nearly 500 genetic disorders that impair immune function, leaving individuals more susceptible to infections, autoimmune conditions, and inflammation. This expansion aligns with GeneDx’s mission to improve patient outcomes by offering advanced exome and genome testing for a growing number of patients, now including those with inherited immunological disorders.
The move to incorporate IEIs into GeneDx’s commercial offerings underscores the company’s commitment to enhancing patient care by providing clinicians with more accurate and comprehensive genetic insights. With exome and genome sequencing, clinicians can diagnose and treat these complex conditions more effectively. Unlike traditional panel-based testing, which has limitations, exome and genome sequencing continuously evolve to incorporate new gene-disease discoveries. This makes them a more efficient tool for diagnosing IEIs, where new genes and associated diseases are being identified rapidly.
For clinicians treating IEI patients, genetic testing has become an essential tool in improving diagnostic accuracy. Exome and genome sequencing offer a diagnostic yield of approximately 40%, significantly higher than the 29% yield from multi-gene panels. This enhanced diagnostic capability provides a clearer path to a diagnosis and ensures clinicians can make well-informed decisions about treatment.
The shift towards an exome and genome-first approach comes with additional benefits, such as improved reimbursement support and reduced time to accurate diagnoses. Early identification of genetic disorders allows for timely interventions, which are critical for IEI patients who require personalized therapies such as bone marrow transplantation, gene therapy, biologic therapies, or immunoglobulin (Ig) replacement. In fact, treatments are available for over 50% of individuals with an IEI, making early diagnosis all the more crucial.
Britt Johnson, PhD, FACMG, and Senior Vice President of Medical Affairs at GeneDx, shared, “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. 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.”
In the last 18 months, GeneDx has sequenced over 5,000 patients suspected of having IEIs, further reinforcing the importance of genetic testing in this field. The company’s growing focus on IEIs not only supports optimal patient care but also provides a valuable resource for biopharmaceutical partners. With access to one of the industry’s most extensive clinical exome and genome datasets, GeneDx is empowering research and drug discovery, particularly for conditions like IEIs. This dataset, which already contains over 750,000 clinical exomes and genomes, is instrumental in advancing therapeutic development for these conditions.
Heather McLaughlin, PhD, FACMG, Senior Director of Molecular Diagnostics at Pharming, explained the challenges IEIs pose for clinicians. “Inborn Errors of Immunity can be difficult to diagnose based on clinical features alone due to complex and overlapping phenotypes. Comprehensive exome and genome sequencing enable precise diagnoses and allow patients to access clinical trials and targeted therapies that may improve their quality of life and clinical outcomes.”
GeneDx’s commitment to advancing the field of genetic testing is evident in the company’s robust and ever-expanding capabilities. By shifting focus from traditional panel testing to next-generation sequencing, GeneDx is empowering clinicians with the tools they need to improve patient care in an area where timely diagnosis is vital.
In addition to enhancing clinical care, this expansion opens new opportunities for biopharma companies working on drug discovery and clinical trials. GeneDx’s growing collection of clinical exomes and genomes provides valuable insights that can accelerate the development of novel therapies for immune-related conditions.
As a leader in the field of genomic diagnostics, GeneDx remains dedicated to providing personalized and targeted care through cutting-edge genetic solutions. The company’s exome and genome tests, backed by one of the world’s largest rare disease datasets, aim to translate complex genomic data into actionable insights that drive better health outcomes for patients and improve the overall efficiency of healthcare systems.
About GeneDx
GeneDx (Nasdaq: WGS) is a leader in genomic diagnostics with a mission to deliver personalized, targeted medical care through precise genetic testing. GeneDx’s exome and genome tests leverage one of the world’s largest rare disease datasets to provide clinicians with the insights they need to offer personalized treatment plans. By unlocking the power of genomic data, GeneDx accelerates drug discovery, improves health outcomes, and enhances the efficiency of health systems worldwide.
