Gene test identifies those at risk of rare but severe drug side effect for MS and other conditions.

Gene test identifies those at risk of rare but severe drug side effect for MS and other conditions.

New Research Highlights Genetic Risk for Rare Brain Disorder

Brain Image

A recent study has revealed a significant breakthrough in understanding the rare and potentially fatal brain disorder known as progressive multifocal leukoencephalopathy (PML). The research, presented at a meeting of the American Neurological Association, highlights a genetic link to the condition and identifies a simple test that can help determine an individual’s risk of developing PML. This groundbreaking discovery provides valuable information for patients and healthcare professionals alike, allowing for safer treatment options and increased awareness of the potential risks associated with certain medications.

The Connection Between Medications and PML

PML is a neurological disorder characterized by the destruction of cells that produce myelin, a protective substance in the brain. It is caused by a virus that exists in up to 85% of the adult population. However, the virus only causes disease when the immune system is severely weakened. The condition has been associated with a range of medications used for multiple sclerosis (MS), Crohn’s disease, psoriasis, lupus, blood cancers, and organ transplants.

The study identified 99 drugs that may pose a risk for developing PML. In addition, researchers discovered that individuals with specific genetic variants are at a significantly higher risk if they take these medications. Understanding and recognizing this genetic connection is crucial for both healthcare professionals and patients, ensuring that appropriate precautions are taken.

The Importance of Genetic Testing

The research team emphasized the importance of genetic testing in determining an individual’s risk for developing drug-induced PML. Individuals who test positive for the four recently identified genetic variants are at a tenfold higher risk of developing the condition when taking the identified medications.

Genetic testing before the prescription of these drugs can help healthcare professionals and patients make informed decisions about treatment options. For those already taking the medications, genetic testing can still provide valuable insights. Identifying the genetic risk allows doctors to closely monitor patients, potentially preventing the onset of PML or catching it at an earlier stage.

Promoting Awareness and Preventive Measures

Lead study author Peggy Eis, chief technology officer at Population Bio, Inc., stressed the need for increased awareness among neurologists and oncologists regarding the link between certain medications and PML. Many healthcare professionals may not be aware of the broad range of drugs associated with the condition. The study findings indicate that warning labels on these drugs should be updated to include a requirement for genetic testing before prescription.

Patients should also be proactive in discussing their genetic risk with healthcare providers. The availability of the genetic test for PML-associated variants means individuals can take control of their own health. Surveys have shown that patients overwhelmingly want to undergo genetic testing once they are aware of its availability.

Exploring Alternative Treatment Options

For individuals who test positive for the genetic variants linked to drug-induced PML, alternative treatment options may be available. Interferon-based therapy, glatiramer acetate, or teriflunomide are treatment options for MS patients that are not associated with PML.

However, some individuals may decide to continue taking PML-linked therapies due to their effectiveness, even after testing positive. In such cases, closer monitoring is necessary. Regular brain MRIs can help detect any signs of PML at an early stage, increasing the chances of successful intervention.

The Future of PML Prevention

The identification of genetic risk factors for drug-induced PML is a significant step forward in preventing this rare and often-fatal condition. By incorporating genetic testing into prescribing practices, healthcare professionals can better tailor treatments to individual patients, minimizing the risks associated with certain medications.

It is worth noting that the study findings presented at the American Neurological Association meeting are considered preliminary until they are published in a peer-reviewed journal. However, the research provides a solid foundation for future studies and further advancements in PML prevention.

Understanding the genetic link to drug-induced PML empowers both patients and healthcare professionals with the knowledge needed to make informed decisions about treatment options. With the availability of genetic testing and increased awareness, the chances of preventing and effectively managing PML can be significantly improved.