Family members of people with motor neuron disease are being offered genetic tests that will tell them whether they are also likely to develop the fatal neurological disorder.
Siblings and children of the around 5,000 people in Britain with MND will be able to access a test that will identify whether they have one of more than 40 genes associated with the disease.
Those who test positive receive counseling and advice about important decisions they may make in their lives, such as whether to have children and, if they decide to do so, whether to use IVF.
They may also have the opportunity to participate in a clinical trial of a drug intended to reduce the debilitating symptoms of ALS and extend the lives of patients.
Dr. Paul Wicks, a neuropsychologist who is part of the initiative, said: “For patients diagnosed with ALS, the most common question people ask is ‘Why me?’ While genetics can’t answer that question for everyone, it can help explain why people have the disease.”
About one in five cases of ALS, which can kill people within 12 to 18 months of diagnosis, is 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 currently undiagnosed or symptomatic, this (getting tested) is a complex and highly personal decision,” said Wicks, the vice president of neuroscience at Sano Genetics, the Cambridge-based scientific company that developed the test.
“Younger people thinking about starting a family may have questions about whether they should have children at all, and whether natural pregnancy can lead to having children who will also eventually develop ALS,” he added to.
“When these people think about their careers, where to live and relationships, they find it important to be informed. Many of these individuals, if they continue to test, will be gene negative, and especially if they do not carry the gene that their parents carry, this means that they are not considered to be at increased risk compared to the population.
“If they are positive, there are family planning options they may want to consider, such as IVF.”
Sano Genetics has received £400,000 from Innovate UK, part of the government-funded UK research and innovation agency, to roll out the test to increase knowledge about the relationship between genetics and ALS and those likely to receive the test , to prepare for that possibility.
The initiative follows the death last weekend at the age of 41 of Rob Burrow, a former rugby league player from Leeds, England and Great Britain, who had ALS.
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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 MND.
The tests will help participants avoid 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 such as peace of mind, to better manage their anxiety about the uncertainty of whether they will get ALS, 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 ALS who undergo genetic testing are found not to have the genes that increase risk, and Sano expects the same percentage of relatives will also be negative.
Eleanor Dalley, a 48-year-old mother who was given two years to live after being diagnosed with ALS, fears her daughter’s genetic makeup could mean she too will develop it. “My daughter has already worked out the genetic connection. I told her the chance is 50%, but said, “Let’s hope you get daddy’s genes for this,” she said.