- Joined
- Feb 15, 2006
- Messages
- 24
- Reason
- CALS
- Diagnosis
- 06/2015
- Country
- UK
- State
- LO
- City
- Lichfield
Hi everyone,
I've been an ALS researcher for 22 years (working on things like cognition, depression, PatientsLikeMe, ALS Untangled, wikipedia, clinical trials) and a caregiver for 11 years to my father in law who was diagnosed with a slowly progressive form of ALS and is currently in an advanced state. If you're interested I tell this story in video form here.
During lockdown I wrote a grant to the UK Government with a startup called Sano Genetics to address some of the gaps that we found in our care journey, and that we heard were echoed globally. We succesfully achieved that funding, set up a joint scientific and patient advisory board (SAPAB) chaired by my old collaborator and mentor Prof Ammar Al-Chalabi, joined by patient advocates from End the Legacy, industry representatives, bioethicists, and genetic counselors.
Our solution is called "Light the Way" - it's an online platform that aims to be in multiple languages and multiple countries over the coming years, and (at no cost to users) it provides high quality genetic education (blogs, videos, and quizzes coproduced by genetic counselors and those with lived experience), pre-test genetic counseling, genetic testing for over 40 ALS/FTD genes via an at-home saliva kit, and post-test genetic counseling for the return of results.
The program is currently open to adults in the US aged 18+ who have a diagnosis of ALS, family history of ALS or symptoms of ALS. Just to be clear that also means you can receive genetic testing if you are an at-risk individual because a family member has had ALS/FTD but you have no symptoms. You can take part even if you've already received a genetic test in the past - you can upload a copy of your report and get a 30 minute post-test genetic counseling session to explore in more detail what that result means for you.
In a couple of months we'll be launching a version in US Spanish featuring medical-grade translation of all educational materials and Spanish-speaking genetic counselors. Around the same time we'll also be launching in the UK, and discussions are underway with stakeholders around the world to see if we can scale this platform to other regions.
We've had the opportunity to present this at ENCALS, the ALS/MND International Symposium, the ALS Packard Conference, NEALS PEACe, and we'll be showcasing this in more detail at the next ALSTDI Town Hall on April 3rd, 2024, at 3pm ET (registration link here).
Visit lightthewaystudy.com to find out more, or email [email protected] if you have any questions.
Mini-FAQ
Q: What genes are you testing for?
A: We are always reviewing this list with our SAPAB to add/remove genes as the science progresses but currently: ALS2, ANG, ANXA11, ARHGEF28, ATP13A2, ATXN2, CFAP410, C9orf72, CHCHD10, CHMP2B, DCTN1, DDHD1, ERBB4, ERLIN1, FIG4, FUS, GRN, HEXA, HNRNPA1, HNRNPA2B1, KIF5A, MAPT, MATR3, MOBP, NEFH, NEK1, OPTN, PFN1, SETX, SIGMAR1, SOD1, SPG11, SQSTM1, TAF15, TARDBP, TBK1, TFG, TIA1, TUBA4A, UNC13A, UBQLN2, VAPB, VCP.
Q: How long does testing take?
A: Once you sign up and complete the education modules, seeing a pre-test genetic counselor can be booked within just a few days, our turnaround time for genetic testing is around 6-10 weeks.
Q: Who has reviewed this?
A: In addition to our SAPAB which is made up of leaders in the field, Light the Way has been reviewed by an institutional review board (IRB) in the US and a research ethics committee (REC) in the UK to ensure that all processes and procedures are conducted to a high standard. We are currently writing up the protocol and have shared some of our work in progress as posters at scientific meetings.
Q: Will the test results show up on my medical record?
A: No, you will receive your results in an online videoconference call with one of our genetic counselors, who will provide you a comprehensive report in PDF format afterwards that you may choose to share with whoever you wish. You are welcome to have other people join you on either the pre- or post- test genetic counseling calls but you have complete control over who knows what.
Q: What's the business model, how is this being delivered at no cost? Are you a non-profit?
A: Sano is a UK for-profit startup company spun out by a group of researchers from the University of Cambridge and the Wellcome Sanger Campus, a global leader in genetics research. Light the Way is initially funded by a grant from the UK Government's "Innovate UK". The funding allowed us to build the software platform, pay our genetic counselors, and deliver a number of genetic tests in the US and UK. In the future we are looking to partner with pharma companies, biotechs, nonprofits, governments, and health systems to a.) help us go to more countries, b.) provide support for more counseling + tests. As the costs of sequencing falls we will pass those savings on to deliver more results to participants. The business model relies on referring people (in an ethical and equitable way) to clinical trials, observational / natural history studies, and to use deidentified and aggregate data to help advance new therapies.
Q: Is this test research grade only? Will this be clinically actionable and what decisions could I choose to make with this information?
A: All genetic testing will be performed in CLIA-certified labs and in the first pass will be under a research-use-only (RUO) process. If you are found to be carrying an ALS-causative gene then a second portion of your sample will be run through a second, laboratory developed test (LDT) for confirmation, meaning that your final results will be clinically actionable to support future decisions such as taking specific treatments if available, being eligible for trials, and supporting family planning.
Q: My situation is quite complex (e.g. my deceased parent had familial ALS but they were never tested, I was tested but only for some genes, I was tested overseas and don't have the paperwork and now I need that for something, etc.)
A: The good news is everyone can benefit from the education part of Light the Way, which might resolve some of your questions, and then we have our pre-test genetic counselors on standby to help talk through your specific questions / situation.
I've been an ALS researcher for 22 years (working on things like cognition, depression, PatientsLikeMe, ALS Untangled, wikipedia, clinical trials) and a caregiver for 11 years to my father in law who was diagnosed with a slowly progressive form of ALS and is currently in an advanced state. If you're interested I tell this story in video form here.
During lockdown I wrote a grant to the UK Government with a startup called Sano Genetics to address some of the gaps that we found in our care journey, and that we heard were echoed globally. We succesfully achieved that funding, set up a joint scientific and patient advisory board (SAPAB) chaired by my old collaborator and mentor Prof Ammar Al-Chalabi, joined by patient advocates from End the Legacy, industry representatives, bioethicists, and genetic counselors.
Our solution is called "Light the Way" - it's an online platform that aims to be in multiple languages and multiple countries over the coming years, and (at no cost to users) it provides high quality genetic education (blogs, videos, and quizzes coproduced by genetic counselors and those with lived experience), pre-test genetic counseling, genetic testing for over 40 ALS/FTD genes via an at-home saliva kit, and post-test genetic counseling for the return of results.
The program is currently open to adults in the US aged 18+ who have a diagnosis of ALS, family history of ALS or symptoms of ALS. Just to be clear that also means you can receive genetic testing if you are an at-risk individual because a family member has had ALS/FTD but you have no symptoms. You can take part even if you've already received a genetic test in the past - you can upload a copy of your report and get a 30 minute post-test genetic counseling session to explore in more detail what that result means for you.
In a couple of months we'll be launching a version in US Spanish featuring medical-grade translation of all educational materials and Spanish-speaking genetic counselors. Around the same time we'll also be launching in the UK, and discussions are underway with stakeholders around the world to see if we can scale this platform to other regions.
We've had the opportunity to present this at ENCALS, the ALS/MND International Symposium, the ALS Packard Conference, NEALS PEACe, and we'll be showcasing this in more detail at the next ALSTDI Town Hall on April 3rd, 2024, at 3pm ET (registration link here).
Visit lightthewaystudy.com to find out more, or email [email protected] if you have any questions.
Mini-FAQ
Q: What genes are you testing for?
A: We are always reviewing this list with our SAPAB to add/remove genes as the science progresses but currently: ALS2, ANG, ANXA11, ARHGEF28, ATP13A2, ATXN2, CFAP410, C9orf72, CHCHD10, CHMP2B, DCTN1, DDHD1, ERBB4, ERLIN1, FIG4, FUS, GRN, HEXA, HNRNPA1, HNRNPA2B1, KIF5A, MAPT, MATR3, MOBP, NEFH, NEK1, OPTN, PFN1, SETX, SIGMAR1, SOD1, SPG11, SQSTM1, TAF15, TARDBP, TBK1, TFG, TIA1, TUBA4A, UNC13A, UBQLN2, VAPB, VCP.
Q: How long does testing take?
A: Once you sign up and complete the education modules, seeing a pre-test genetic counselor can be booked within just a few days, our turnaround time for genetic testing is around 6-10 weeks.
Q: Who has reviewed this?
A: In addition to our SAPAB which is made up of leaders in the field, Light the Way has been reviewed by an institutional review board (IRB) in the US and a research ethics committee (REC) in the UK to ensure that all processes and procedures are conducted to a high standard. We are currently writing up the protocol and have shared some of our work in progress as posters at scientific meetings.
Q: Will the test results show up on my medical record?
A: No, you will receive your results in an online videoconference call with one of our genetic counselors, who will provide you a comprehensive report in PDF format afterwards that you may choose to share with whoever you wish. You are welcome to have other people join you on either the pre- or post- test genetic counseling calls but you have complete control over who knows what.
Q: What's the business model, how is this being delivered at no cost? Are you a non-profit?
A: Sano is a UK for-profit startup company spun out by a group of researchers from the University of Cambridge and the Wellcome Sanger Campus, a global leader in genetics research. Light the Way is initially funded by a grant from the UK Government's "Innovate UK". The funding allowed us to build the software platform, pay our genetic counselors, and deliver a number of genetic tests in the US and UK. In the future we are looking to partner with pharma companies, biotechs, nonprofits, governments, and health systems to a.) help us go to more countries, b.) provide support for more counseling + tests. As the costs of sequencing falls we will pass those savings on to deliver more results to participants. The business model relies on referring people (in an ethical and equitable way) to clinical trials, observational / natural history studies, and to use deidentified and aggregate data to help advance new therapies.
Q: Is this test research grade only? Will this be clinically actionable and what decisions could I choose to make with this information?
A: All genetic testing will be performed in CLIA-certified labs and in the first pass will be under a research-use-only (RUO) process. If you are found to be carrying an ALS-causative gene then a second portion of your sample will be run through a second, laboratory developed test (LDT) for confirmation, meaning that your final results will be clinically actionable to support future decisions such as taking specific treatments if available, being eligible for trials, and supporting family planning.
Q: My situation is quite complex (e.g. my deceased parent had familial ALS but they were never tested, I was tested but only for some genes, I was tested overseas and don't have the paperwork and now I need that for something, etc.)
A: The good news is everyone can benefit from the education part of Light the Way, which might resolve some of your questions, and then we have our pre-test genetic counselors on standby to help talk through your specific questions / situation.
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