GeneDx partners with Mirum to improve early diagnosis of rare genetic diseases in US
The collaboration aims to improve the diagnosis of rare genetic conditions that can cause unexplained symptoms, affect multiple organ systems or resemble other diseases.
USA—GeneDx and Mirum Pharmaceuticals have partnered to provide eligible patients in the US with free exome sequencing to identify genetic causes of cholestasis, early-onset cataracts, and peroxisomal biogenesis disorders within the Zellweger spectrum (PBD-ZSD).
The collaboration aims to improve the diagnosis of rare genetic conditions that can cause unexplained symptoms, affect multiple organ systems or resemble other diseases.
By identifying underlying genetic changes, the programme seeks to help physicians make informed clinical decisions and guide patient management.
Free testing and genetic counselling
Under the agreement, eligible patients will receive GeneDx’s ExomeDx test, available in proband, duo or trio configurations.
The testing options allow physicians to assess an individual’s genetic profile alone or compare results with those of parents or other family members.
Participating physicians will receive detailed diagnostic reports and professional interpretation of the findings.
GeneDx will also provide post-test genetic counselling to help patients and their families understand the results and consider appropriate next steps.
However, eligibility varies across the three testing programmes.
The early-onset cataract programme covers individuals aged two to 35 years with unexplained cataracts that are not attributable to trauma, infection or other non-genetic causes.
The cholestasis programme targets patients with unexplained chronic liver disease, characteristic clinical symptoms or a family history of confirmed genetic cholestasis.
It includes suspected cases of conditions such as Alagille syndrome and progressive familial intrahepatic cholestasis.
Patients whose cholestasis is primarily associated with total parenteral nutrition or suspected extrahepatic causes are excluded.
Meanwhile, the PBD-ZSD programme covers patients with diagnosed or suspected disorders linked to alterations in PEX genes.
Eligible clinical presentations include neurological, hearing, visual or liver function deterioration.
Expanding access to rare disease diagnostics
GeneDx Chief Business Officer Lisa Gurry said rare genetic conditions often affect several organ systems and present differently across patients, making timely diagnosis difficult.
She noted that the company combines advanced genetic testing, clinical interpretation, and a large rare disease dataset to help physicians and patients obtain diagnostic answers.
The partnership with Mirum also supports efforts to reduce barriers to genetic testing, shorten diagnostic timelines and improve clinical decision-making for people living with rare diseases.
GeneDx offers a portfolio of genetic testing services, including ExomeDx, GeneDx Infinity and GenomeDx.
Its technologies also include products holding US Food and Drug Administration (FDA) breakthrough device designation.
In June 2025, the company reported findings from the SeqFirst study, which examined the use of rapid exome sequencing (rES) and rapid genome sequencing (rGS) as first-tier diagnostic tests for hospitalised paediatric patients who were not critically ill.
The collaboration comes amid growing interest in expanding access to genomic testing for rare diseases.
Such programmes can support earlier diagnosis, reduce prolonged diagnostic investigations and provide clinicians with genetic information to inform treatment and long-term patient management.
Be the first to leave a comment