Predicting Multiple Sclerosis Risk for Relatives with More Ease

It is now more possible to predict which individuals will develop multiple sclerosis (MS), according to findings published in the Annals of Neurology.

Researchers from Brigham and Women’s Hospital recruited 2,632 first-degree relatives (a parent, sibling or child) from across the US as part of the Genes and Environment in Multiple Sclerosis (GEMS) to investigate the events leading to MS in at risk individuals.

The GEMS study uses patient outreach efforts through advocacy groups such as the National MS Society, social media outlets like Facebook, and the electronic communications between first-degree relatives of people diagnosed with MS. The patients completed a web-based questionnaire about their medical history, family history, environmental exposures and other information. They also submitted a saliva sample for DNA extraction to the investigators. The researchers tested the relatives using an integrated genetic and environmental score and were able to identify which patients had twice the risk of MS compared to an average family member.

The initial incidence of MS in those patients was 30 times greater than that of sporadic MS, the researchers reported. The risk for first-degree relatives developing MS is still low, though, the researchers said. Of 10,000 first degree relatives, only about 60 will be diagnosed with MS over five years, the researchers estimated.

But the researchers continued knowing this information provides an opportunity for early intervention and makes clinical trials more feasible.

“Early detection of MS means the possibility of earlier treatment, which could delay the accumulation of disability,” co senior author Phil De Jager, MD, PhD, who directs the Program in Translational NeuroPsychiatric Genomics at the Ann Romney Center for Neurologic Diseases at BWH, said in a press release. “Our long-term goal is to map out the sequence of events leading from health to disease, in order to be able to identify and intervene early in individuals at high-risk of MS.”

Eventually, the study plans to enroll double the amount of first-degree relatives, up to 5,000, and continue monitoring them for the next 20 years.

“We do not yet have a tool that we can use clinically to predict MS,” De Jager concluded. “To develop such tools further, and to develop a platform for testing strategies to prevent the disease altogether, we are expanding GEMS into a larger collaborative study that will accelerate the progress of discovery and bring together a community of investigators to overcome this important challenge. Overall, the risk of MS remains very small for most family members. The most effective therapies for MS will ultimately be those that prevent its onset, as halting inflammation and disease progression are much more difficult once the disease has become established.”