Relatives of people with motor neurone disease are being offered genetic tests that will tell them if they are also likely to get the fatal neurological condition.
Siblings and children of the approximately 5,000 people in Britain with MND will be able to access a test that will identify if they have any of the more than 40 genes associated with the disease.
Those who test positive will be offered counselling and advice on major decisions they may make in their life, 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 that is intended to reduce MND’s debilitating symptoms and extend patients’ lives.
Dr Paul Wicks, a neuropsychologist who is part of the initiative, said: “For patients diagnosed with MND, the most frequently asked question people ask is: ‘Why me?’ Although genetics doesn’t answer that question for everybody, it can help explain why they have got the disease.”
About one in five cases of MND, which can kill people within 12-18 months of their diagnosis, are believed to be related to genetics. People in Britain have a one in 300 risk of getting it.
“For people who are at risk of developing genetic MND in the future, but are not currently diagnosed or symptomatic, this [getting tested] is a complex and very personal decision,” said Wicks, the vice-president of neuroscience at Sano Genetics, the Cambridge-based scientific company that developed the test.
“Younger people who are thinking about starting a family may have questions about whether to have children at all, and whether conceiving naturally might lead to having children who will ultimately get MND too, for example,” he added.
“When these people are thinking about their careers, where to live, and relationships, they feel it is important to be informed. Many of these individuals, if they go ahead with testing, will be gene-negative, and particularly when they don’t carry the gene that their parents carry, it means they are not thought to be at an elevated level of risk relative to the general population.
“If they are positive, there are family planning options that they may wish 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 roll out the test to help expand knowledge of the relationship between genetics and MND and let those who are likely to get it to prepare for that eventuality.
The initiative follows the death last weekend at the age of 41 of Rob Burrow, a former Leeds, England and Great Britain rugby league player, who had MND.
Those who sign up will be sent a saliva test that scientists will analyse to produce a unique genetic profile, which will tell them whether someone is positive or negative for the genes linked to MND.
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 get tested may do so for reasons including peace of mind, to better manage their anxiety over 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 MND who undergo genetic testing are found not to have the genes that heighten risk, and Sano expects the same proportion of relatives to also come back negative.
Eleanor Dalley, a 48-year-old mother who was given two years to live after being diagnosed with MND, is worried that her daughter’s genetic makeup may mean she gets it too. “My daughter has already worked out the genetic connection. I have told her there is a 50% chance, but said: ‘Let’s hope you get daddy’s genes for this,’” she said.
