US-based genetic testing company GeneDx has expanded into the field of Inborn Errors of Immunity (IEI), a group that comprises nearly 500 genetic disorders that affect immune function, leading to increased vulnerability to infections, autoimmune diseases, and inflammatory conditions.
The expansion aligns with GeneDx’s mission to enhance patient outcomes by offering exome and genome testing solutions to a broader patient base, now including those with inherited immunological disorders.
The focus on IEIs allows GeneDx to improve patient care by implementing exome and genome testing. This approach provides clinicians with precise and comprehensive genetic insights, aiding in the treatment of patients with these conditions.
Clinicians dealing with IEIs are increasingly acknowledging the significance of genetic testing. With the rapid advancements in gene-disease discovery within the IEI domain, exome and genome sequencing are proving more effective than panel-based testing in keeping pace with new developments, said GeneDx.
Genomic sequencing offers a diagnostic yield of approximately 40% for IEI patients, surpassing the 29% yield from multi-gene panels. The enhanced diagnostic accuracy, coupled with growing reimbursement support, is driving a shift towards an exome and genome-first strategy.
This approach accelerates the time to accurate diagnosis and informs personalised treatment decisions, including bone marrow transplantation, gene therapy, biologic supportive therapy, and immunoglobulin replacement therapy. Currently, therapies are available for over half of the individuals diagnosed with an IEI.
Over the last 18 months, GeneDx has sequenced more than 5,000 patients suspected of having IEIs. This focus on commercial and patient aspects not only equips healthcare providers with comprehensive genetic insights for optimal patient care but also creates new opportunities for biopharmaceutical partners.
These partners can leverage GeneDx’s extensive dataset, which includes over 750,000 clinical exomes and genomes enriched with IEI data, to advance research, drug discovery, and therapeutic development. In February this year, GeneDx launched on Aura, Epic’s speciality diagnostics suite. This initiative integrates advanced genetic sequencing within electronic health records (EHR) of health systems, facilitating order placement and result dissemination.
