A new platform has been designed for families affected by amyotrophic lateral sclerosis to make genetic testing more accessible to those with a family history, symptoms or diagnosis of ALS.
Light the Way will deliver DNA testing and genetic counselling and has launched in the United States, with a Spanish language version to follow in January, with a launch planned for the United Kingdom in early 2024.
The program, from Sano Genetics, offers interactive educational resources developed by genetic counsellors to help people better understand ALS. Following the educational modules, participants will be invited to meet with a genetic counsellor on a video call to better understand their personal risk, and to decide whether testing – for variants in 40+ genes linked to the disease – is right for them.
They will also have the chance to discuss practical concerns such as how results could affect health insurance. If, after that, they wish to find out about their risk of developing ALS, they will be sent a saliva test kit through the mail.
Signposting to peer support groups will help participants mentally and emotionally prepare for the outcome and the results will be returned in a follow-up counselling session.
Diagnosed ALS patients who test positive for ALS-causing genetic variants will know with greater certainty why they have developed the condition and will be given a clinically actionable report they can take to their physician to support access to therapies, research and further support.
ALS patients who test negative can confirm they are not at an elevated risk of passing the condition to their children or, if participants are currently unaffected, that they are not at higher risk of developing ALS in later life – although the research may discover other genes in future.
Participants who test positive but who are not affected may be able to use the information for financial, family, and lifestyle planning and can join a growing community of those advocating for predictive testing, preventive research and regular clinical monitoring.
Those who have a variant of unknown significance (VUS) will have the opportunity to be informed if new discoveries change their risk profile in the future.
To help gauge the emotional toll of ALS or those waiting for results, participants can periodically self-report how they are feeling over nine months in an observational study named Beacon. Data yielded will underpin new policies to support those who may be at risk of genetic ALS, and who currently struggle to access consistent support.
Light The Way received initial development funding of £330,000 from Innovate UK to provide around 150 genetic tests and educational support for thousands, and the project is in the process of raising follow-on funding to scale up.
Dr Paul Wicks, Sano Genetics’ scientific advisor on Light The Way, has worked in the field of ALS for 22 years.
“I’ve been fighting ALS my whole career but, in an expected twist, the fight recently became personal when a close relative was diagnosed and I became a caregiver,” he said.
“Nothing prepared my family for the months of waiting for – fortunately negative – genetic test results. It struck me how dire the situation must be for those who don’t have expertise in the disease, and who can’t access specialists for advice. From that frustration, Light The Way was born.
“This is a disease with an 18 to 24 month prognosis. We simply don’t have time to waste. Light The Way will dramatically raise awareness of observational studies, pre-symptomatic registries, and interventional drug trials to accelerate our understanding and development of new treatments for genetically mediated ALS.
“DNA testing for ALS is still a postcode lottery. Multiple studies show that while most clinicians offer genetic testing to symptomatic individuals, there is huge variation in the practice of pre-test genetic counselling, which genes are tested, and whether testing is offered to at-risk family members.
“There are likely to be significant disparities and health inequities at play which we are only just starting to uncover. Systematic education, support and monitoring to people at risk of genetic ALS should be the standard of care.”
Professor Ammar Al-Chalabi is chair of the Light The Way scientific and patient advisory board, professor of neurology and complex disease genetics at King’s College London, co-director of the UK MND Research Institute, and co-chair of the NINDS ALS Strategic Plan Working Group.
“We are at a crucial point in understanding and treating ALS,” he said.
“At the start of my career, I was told “genetics is not important in ALS” but the clinical information and DNA generously donated by people living with ALS has led us to find more than 40 ALS genes. These discoveries have given us crucial insights into why ALS happens and what might be done to treat it.
“Importantly, they mean that genetic testing has become a key part of the clinical assessment of people with ALS.
“That is why I am so excited by Light The Way, which will make genetic testing more accessible for people affected by and living with ALS.”
