Relatives of people with motor neuron disease are offered genetic tests that will tell them whether they are also likely to get the fatal neurological condition.
Siblings and children of the 5,000 or so people in Britain with MNS will have access to a test that will identify whether they have any of the more than 40 genes associated with the disease.
Those who test positive will receive counseling and advice on important life decisions, such as whether or not to have children and, if they decide to do so, whether to use IVF.
They may also be offered the chance to participate in a clinical trial of a drug intended to reduce MNS’s debilitating symptoms and prolong patients’ lives.
Dr Paul Wicks, a neuropsychologist who is part of the initiative, said: “For patients diagnosed with MNS, the most common question people ask is, ‘Why me?’ Although genetics doesn’t answer that question for everyone, it can help explain why they contracted the disease.”
About one in five cases of MNS, which can kill people within 12-18 months of their diagnosis, is believed to be linked to genetics. People in Britain have a one in 300 risk of getting it.
“For people who are at risk of developing genetic MNS in the future but are not currently diagnosed or symptomatic, [getting tested] is a complex and very personal decision,” said Wicks, the vice president of neuroscience at Sano Geneticsthe Cambridge-based scientific company that developed the test.
“Younger people who are thinking about starting a family may have questions about whether they should have children at all, and whether natural pregnancy can lead to children who will also eventually get MNS,” he added.
“When these people think about their careers, where to live and relationships, they feel it’s important to be informed. Many of these individuals, if they proceed with testing, will be gene-negative, and especially when they do not carry the gene that their parents carry, this means that they are not thought to be at an increased level of risk relative to the general population .
“If they are positive, there are family planning options they may want to consider, such as IVF.”
Sano Genetics has been awarded £400,000 by Innovate UK, part of the government-funded UK Research and Innovation agency, to carry out the test to help expand knowledge of the relationship between genetics and MNS and those likely to get it to prepare. for that occasion.
The initiative follows the died last weekend at the age of 41 of Rob Burrow, a former Leeds, England and Great Britain rugby league player, who had MNS.
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Those who sign up will be sent a saliva test that scientists will analyze to produce a unique genetic profile, which will tell them whether someone is positive or negative for the genes linked to MNS.
The tests will help participants bypass waiting lists of up to a year to undergo full genetic testing on the NHS.
Wicks said: “Family members who choose to be tested may do so for reasons including peace of mind, to better manage their anxiety about uncertainty [as to whether they will get MND]to plan where they live, their career or their family planning, or to contribute to research out of altruism.”
About 85% of those diagnosed with MNS who undergo genetic testing do not have the genes that increase risk, and Sano expects the same proportion of family members to also come back negative.
Eleanor Dalley, a 48-year-old mother who was given two years to live after being diagnosed with MNS, worries that her daughter’s genetic make-up could mean she gets it too. “My daughter has already worked out the genetic link. I told her there was a 50% chance, but said, ‘Let’s hope you get daddy’s genes for this,'” she said.
