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Genetic testing helps detect risk for progressive polyleukoencephalopathy

Genetic testing helps detect risk for progressive polyleukoencephalopathy

 


December 14, 2022

1 minute read


Disclosure: Hatchwell is employed by Population Bio Inc. and reports that it receives funding from PML Screening to offset some of its research costs. See research for relevant financial disclosures of all other authors.


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Use of genetic risk testing in patients considering immunosuppressive therapy associated with developing progressive polyleukoencephalopathy may reduce disease incidence, researchers report The forefront of neurology.

Progressive multiple leukoencephalopathy (PML) is a rare and often fatal brain disorder caused by the common, benign polyomavirus 2, also known as the JC virus. Eli Hatchwell, MD, PhD, Co-Founder and Chief Scientific Officer of Population Bio Inc. and a colleague wrote:



DNA 1
Genetic risk testing for progressive multifocal leukoencephalopathy is now available to screen patients undergoing or considering treatment with related drugs to reduce incidence. Source: Adobe Stock

i.e. hatchwell

“There are many conditions and medications that increase the risk of PML, a condition that is usually very rare in the general population,” Hatchwell told Healio.

Hatchwell and colleagues theorized that patients may have a genetic susceptibility due to the presence of deleterious variants in immune-related genes. In a previous study, they found 19 candidate PML risk variants in her, four of which were validated in his population and matched controls.

“Patients with MS, and possibly other conditions, who are about to start using drugs on the list of drugs that can cause PML, would benefit from being tested to check for the variants we have identified. They will,” Hatchwell said.

According to this study, patients with any of the four identified variants were at increased risk of PML (OR = 8.7; 95% CI, 3.7-20.6), a measure of clinical relevance and usefulness compared to breast cancer for examination.

“If [a patient tests] If any of these variants are positive, either alter the planned therapy or be very cautious about how that therapy is delivered with very close clinical monitoring for signs of PML. We need to seriously consider becoming a company,” Hatchwell said.

“There are very few specific tests based on a person’s genome, and this is one of them,” added Hatchwell. “We see this as an example of precision medicine, and in the future, the more we know about a patient’s genome, the more we will be able to customize patient care.”

In this study, the researchers concluded, “Simple, low-cost genetic screening of patients considering drugs with known or suspected PML risk can prevent future cases.”

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