Since beginning our partnership with Probably Genetic and implementation of the “Could it be SYNGAP1?” symptom checker in early 2022, the SynGAP Research Fund (SRF) has been able to help identify 37 potential SYNGAP1 patients in just over three months.
SRF’s partnership with Probably Genetic
Rare disease patients are difficult to find, and about 50% of them remain undiagnosed. Probably Genetic is helping change that. The company has created a tool to screen undiagnosed patients for a number of severe genetic diseases through online surveys they call symptom checkers.
Working together with SRF, they’ve developed a symptom checker for a potential SYNGAP1 diagnosis. Undiagnosed patients can take the quick online survey which includes symptoms specific to SYNGAP1. Upon survey completion, the patient will be scored on how closely their symptom profile fits the SYNGAP1 profile. If eligible, the patient will be directed to no-cost genetic testing options, creating a path towards a possible diagnosis. The survey can be accessed here.
Implementing the “Could it be SYNGAP1?” Program
To promote the SYNGAP1 Probably Genetic program and point people to the symptom checker, we started using a series of Google Ads (see sample below). We advertise keywords such as childhood epilepsy, eye roll seizures and other common SYNGAP1 symptoms. This way, families struggling with their lack of diagnosis and searching for answers via Google search can be directed to the survey, and subsequently receive genetic testing and hopefully a diagnosis.
SRF members also promoted (and continue to promote) the symptom checker in potentially relevant online community groups. This encourages people who have already been recognized as having SYNGAP1-related symptoms to take the survey.
As of early June 2022, just over three months since the survey went live, there were 3,287 unique submissions collected from across the world. That’s over 3,000 people searching for an answer for their loved ones’ symptoms. Could it be SYNGAP1? The survey will help cull this out. This exceeded all expectations of how many people would participate.
Connecting with Survey-Takers
Probably Genetic provides survey results to SRF on a monthly basis. SRF analyzes the data and identifies patients that, based on symptoms, might have SYNGAP1. We reach out to them with this information, encouraging them to get genetic testing and providing suggestions on where/how to do this. Many will be eligible for free testing. In these first few months, SRF identified 37 people who are possibly or probably SYNGAP1 as we’ve taken to saying.
We also found that the families of patients who strongly identified with what they saw on the survey wanted to join the SYNGAP1 family-only Facebook group. That group is only for families with a confirmed SYNGAP1 diagnosis, but we didn’t want to leave these families adrift with no support as they continued their diagnostic journey. So SRF quickly created, manages, and stays active in a Facebook group called Probably Syngap1. This Facebook group was made especially for potential SYNGAP1 patients and their families in order to provide information on SYNGAP1 and to foster a community amongst these families as they await genetic testing results.
What are the next steps?
SRF will continue to follow up with any probably SYNGAP1 patients as identified by the survey. We want to encourage all to get genetic testing and counseling. We want every family to have the benefit of a diagnosis for their loved one. There’s peace of mind in knowing, but there’s more than that. There’s community instead of being all alone. The diagnosis (and accompanying ICD10 code, F78.A1) can also make the difference of getting needed medical care, supportive therapies, and appropriate educational placement. And with the diagnosis known and the patient followed, they can have access to research opportunities, clinical trials, and therapeutics when available.
SRF recently started a partnership with Ambit Healthcare, a technology company committed to helping rare disease patients. Ambit Healthcare has their own SRF page, so potential SYNGAP1 patients who fill out their questionnaire may qualify for free genetic testing and counseling. Probably Genetic is also starting a partnership with Mahzi Therapeutics, a health and biotechnology company, to offer genetic testing to potential rare disease patients who have been identified by Probably Genetic surveys. Even though Mahzi does not yet have SYNGAP1 in their pipeline they are generously offering testing to potential SynGAP patients as well.
Both of these partnerships offer exciting resources to help struggling families reach a diagnosis. We want to promote these partnerships to offer genetic testing to as many undiagnosed families as possible.
In addition, we plan to offer the survey in other languages. A Spanish translation will be the first, with an anticipated start date of summer 2022.
Through this model of actively seeking to see more patients diagnosed, it is our hope that we will be able to provide undiagnosed patients with a pathway to an accurate diagnosis and all that it brings.