Sano Genetics, a Cambridge-based company accelerating precision medicine research will use the money to engage with what they are calling ‘an invisible community.’
The project called Light the Way will provide free genetic testing and counselling as well as education, peer support and opportunities to participate in research and studies as well as an approved gene therapy available in the US.
It aims to improve the outlook for people living with, and at risk of developing, this progressive neurodegenerative disease for which there is currently no cure and an 18 to 24-month median prognosis.
Sano found in its research that ALS affects around five in 100,000 people at any given time. Of these people, one in five will have a genetic cause for their disease.
A new therapy recently approved in the US called tofersen, aimed at people with ALS who carry the SOD-1 genetic mutation, highlights, Sano says, the importance of genetic testing.
Patrick Short, CEO and co-founder of Sano Genetics, said: “With the recent approval of tofersen for SOD-1 mediated genetic ALS, there is growing interest in the topic of widespread genetic testing for patients diagnosed with ALS but equally important to precision medicine research are those at risk of genetic ALS, including first and second-degree relatives of affected individuals. Because it’s such a devastating condition, researchers and healthcare professionals are concerned about the psychological fallout of learning about a genetic predisposition. This is partly why ALS is so severely under-researched from a genetics standpoint.”
At risk of genetic ALS
He said the current state of play is that it’s a big challenge in every country for asymptomatic people who may be at risk of genetic ALS to access education, counselling, or testing.
Short added: “This is especially problematic in low- and middle-income countries. Informally, some clinicians report that having conversations with asymptomatic individuals or offering genetic counselling risks causing more harm than good and diverts resources away from treating diagnosed ALS patients in busy clinics. We are committed to finding a better way forward.”
The grant will cover the initial recruitment of 1,000 participants in the US and UK, of which up to 200 are expected to opt in for genetic sequencing. From launch, the platform will be available in the US in both English and US Spanish.
Once the grant has been used up, Sano plans to develop a pre-competitive consortium of partners to fund the ongoing development and expansion of Light the Way into multiple countries and languages focusing on territories with the biggest gaps in research and clinical care.
Contributing to research
Those who learn they carry an ALS-causing gene – as well as those who suspect they may be carriers – may experience significant stress, panic, and uncertainty. The platform will chart the psychological impact of living with a genetic predisposition to ALS through a psychological distress study named Beacon. It will quantify the degree of depressed mood (PHQ-9), anxious mood (GAD-7), perceived worry about genetic ALS, reaction to the return of results, survivor’s guilt among those who test negative, and any sense of regret experienced after testing.
Patients will self-report how they’re feeling periodically over nine months, and results will be compared to a control group of individuals who either decided not to get tested or not to receive their results. Between-group comparisons will include the experiences of those who tested positive for an ALS-causing gene, those who tested negative, and those with variants of uncertain significance.
Building a platform using patient-centric design principles, the project’s architects hope to brighten the outlook for those who take part in the study and engage with the platform, while providing hard data to inform policy and care.
Sally Hughes, acting director of care improvement, at MND Association, comments: “We believe genetic testing, alongside genetic counselling, should be offered to people diagnosed with MND, and those with a family history of the disease even if they don’t have symptoms. This could allow for personalised treatment programmes in the future and for genetic information to be considered by those intending to have children.
“We are aware there are currently significant delays for people in accessing genetic testing. We are prioritising work on how we can help remove barriers to ensure more people can access genetic testing and appropriate counselling should they wish to. Genetic testing is a big step, not just for the individual but potentially for family members too, and the ‘Light the Way’ project has an important role in helping us understand the psychological impact. The funding for this project has the potential to be part of the solution to MND genetic testing challenges.”