Families affected by ALS urged to join free program to uncover their genetic risk, contribute to research, and access new therapies

Families affected by ALS urged to join free program to uncover their genetic risk, contribute to research, and access new therapies

• Sano Genetics launches ‘Light The Way’, offering peer support, DNA testing, genetic counseling and education to those diagnosed with or experiencing symptoms of ALS, and those at risk of genetic ALS due to their family history.
• Around one in five ALS cases are now thought to be genetic; 40+ genes have been linked to the disease thanks to new discoveries funded in part by the 2014 ALS ice bucket challenge.*
• Knowing their genetic risk could offer relief to many, while those who test positive may be able to access newly approved therapies, clinical trials and observational studies like Beacon, which charts the psychological impact of ALS genetic testing.

Sano Genetics, a health tech company accelerating precision medicine research, has launched a new platform co-designed by families affected by ALS**, offering free DNA testing and genetic counseling to those with a family history, symptoms, or a diagnosis of amyotrophic lateral sclerosis (ALS).

Light The Way launches today in the United States, with a Spanish language version to follow in January, and in the United Kingdom in early 2024. Sano Genetics is actively seeking partners to expand the service to other languages and countries. 

The program offers interactive educational resources developed by genetic counselors to help people better understand this progressive, incurable and terminal neurodegenerative disease that affects nerve cells in the brain and spinal cord.

Once they’ve completed the educational modules, participants will be invited to meet with a genetic counselor 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 counseling session.

Diagnosed ALS patients who test negative can be relieved to know 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. However, it is important to recognize that research might identify other genes in the future. 

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.

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.

Finally, 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.

Of course, waiting for and receiving test results can be intensely stressful. Participants will be invited to periodically self-report how they’re 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 ​​£330K 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. He comments:

“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. 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 18-24 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 zipcode 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 counseling, 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.

“The situation has become more urgent since the approval earlier this year of QALSODY® (tofersen), a gene therapy for SOD1-mediated ALS. Some 2-3% of ALS is caused by SOD1 mutations, and around half these mutations are found in people with no family history of the disease. If people don’t know they have the gene, they can’t access the treatment, and as more therapies are developed the need becomes ever greater.”

Jean Swidler, chair of Genetic ALS & FTD: End The Legacy, has lost multiple family members to the disease and is an ALS gene carrier. She comments:

“When my mom first experienced symptoms her primary care physician was slow to refer to a neurologist, and when that finally happened the neurologist did not deem her family history of ALS relevant or order genetic testing. She did not receive a diagnosis, genetic testing, supportive care or ALS therapies until she had weakness in three of four limbs and her bulbar region. She died just 16 months later. When I got my positive test I couldn’t find any resources that spoke to me as a person in the position of living at risk. 

“Gene carriers have historically not been considered a unique interest group beyond the established ALS patient and ALS caregiver categories. But we knew we had a unique perspective as those at high genetic risk of the disease. Knowing our status can deepen our resolve to become better advocates in policy, research and care. That’s why our team got involved in developing Light The Way – to help find the hundreds of thousands of potential gene carriers in the US alone. Because it’s a virtual service, those underserved by healthcare systems, which includes people in rural areas, those without insurance, and Spanish speakers, can be better reached.” 

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. He comments:

“We are at a crucial point in understanding and treating ALS. 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.”