GeneDx, a top organization for rare disease diagnosis and genomic data, has revealed that it is collaborating with Mirum Pharmaceuticals. The partnership brings free exome testing to qualified individuals. The partnership includes three sponsored testing programs: cholestasis, early-onset cataracts, and peroxisomal biogenesis disorder–Zellweger spectrum disorders (PBD-ZSD).
Both companies are tackling a shared challenge in rare disease care. Many symptoms stay unexplained, affect multiple organ systems, or overlap with other conditions. Therefore, the programs aim to uncover the underlying genetic cause. In turn, that insight can guide diagnosis, clinical management, and treatment decisions.
“Reaching a genetic diagnosis can be an important turning point for patients and families living with rare disease,” said Peter Radovich, President and Chief Operating Officer of Mirum Pharmaceuticals. “GeneDx’s advanced testing and deep rare disease expertise complement Mirum’s commitment to supporting patients throughout their journey by providing information that may support clinical decision-making.”
Why Genetic Diagnosis Matters for Rare Disease Patients
Finding the genetic cause can change patient care in important ways. For instance, certain inherited liver diseases can progress to liver failure. Likewise, early-onset cataracts may signal genetic conditions that affect more than vision. Meanwhile, PBD-ZSD can cause progressive neurological, hearing, vision, and liver complications. As a result, the programs help clinicians identify these conditions earlier.
Eligible patients will receive GeneDx’s ExomeDx™ testing. Proband, duo, or trio testing options are available through the programs. In addition, clinicians will receive a comprehensive clinical report with expert interpretation of the results. GeneDx will also offer post-test genetic counseling. This support helps patients and families understand their results and their potential next steps.
Eligibility Criteria for the Three Testing Programs
The collaboration includes three programs, each with distinct eligibility criteria.
Cholestasis This program is for patients with unexplained cholestasis or suspected inherited cholestatic liver disease. Those with unexplained chronic liver disease or certain associated clinical findings are included. Patients with a genetically confirmed family history of cholestasis are also eligible. Relevant conditions may include progressive familial intrahepatic cholestasis (PFIC) and Alagille syndrome. Patients with suspected extra-hepatic causes are excluded. We also exclude patients with a primary diagnosis of total parenteral nutrition-associated cholestasis.
Early onset cataracts: This program accepts patients aged 2-35. They must have current or past idiopathic lens opacity. The condition cannot be accounted for by infection, trauma or other non-genetic causes.
PBD-ZSD: This program supports patients with diagnosed or clinically suspected PBD-ZSD. These rare inherited metabolic disorders stem from variants in PEX genes. Patients who experience neurological, vision, hearing, or liver deterioration may qualify.
“Rare genetic conditions can affect multiple organ systems and look remarkably different from one patient to the next, making timely diagnosis especially challenging,” said Lisa Gurry, Chief Business Officer, GeneDx. “GeneDx helps clinicians and patients find earlier answers through advanced genetic testing, expert clinical interpretation, and the world’s largest rare disease dataset. Our collaboration with Mirum builds on our commitment to breaking down barriers to genetic testing, accelerating diagnosis and empowering clinicians to make more informed care decisions for patients with rare diseases.”
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News Source: Businesswire.com
