MS/PML experts recommend genetic testing to prevent fatal brain infection

March 22, 2023
Experts argue that preventative screening should become new standard of care.

In an editorial in the journal Frontiers in Neurology, two multiple sclerosis (MS) experts are advocating for genetic testing to identify MS patients who are at higher risk of developing a devastating side effect from their medications.  

People with MS are faced with the excruciating decision of whether they should take medications that are effective in slowing the progression of the disease, but may also trigger this potentially fatal complication, a rare brain infection called progressive multifocal leukoencephalopathy (PML). 

The two authorities, Joseph Berger, MD, and Hans-Peter Hartung, MD, write, “The availability of a simple, relatively inexpensive test that can identify the genes that put one at risk for PML would be enormously helpful in the management of patients. The widespread use of such testing could potentially allow the physician to use alternative therapies that do not carry the same risk of PML.” 

The editorial was written in support of a recently published study that confirmed a strong link between four genetic mutations and PML. The original study, also published in Frontiers in Neurology, found that these four variants were far more common among patients who took PML-linked drugs and developed PML than patients who took those drugs and did not develop PML. Neither of the editorial authors were affiliated with the original study.  

It is expected that preventative screening will become a routine part of patient care, as recommended by Drs. Berger, Hartung, and Steinman. But to fill the immediate need, the PML Foundation is currently offering a free test online. Simpler than a COVID swab, the at-home saliva test is processed in a CLIA-certified lab by PreventionGenetics, a leader in the field for almost 20 years. The free test is available at pmlrisktest.org. 

Link to editorial