119 - How SRF Operationalized Probably Genetic’s Online Symptom Checker to Help Find SYNGAP1 Patients

In early 2022, SynGAP Research Fund (SRF) began a partnership with Probably Genetic, a technology company committed to finding rare disease patients. The company has created a tool to screen undiagnosed patients for a number of severe genetic diseases through online surveys they call symptom checkers. As of early June 2022, in the first three months of usage, there have been 3,287 unique submissions for the Could it Be SynGAP1? survey. This pre-screening tool has been very helpful in identifying potential SYNGAP1 patients from around the world, and we anticipate using it to identify more SYNGAP1 patients in the future. 

Since initiating our partnership with Probably Genetic, SynGAP Research Fund (SRF) has taken a number of steps to help promote the use of the online symptom checker, all with the goal in mind of helping potential SYNGAP1 patients get diagnosed, linked into support systems in place, and poised for advances in science as they come. Here’s what we’ve done. 

Google Ads 

We have started using Google Ads to promote more people to take the SYNGAP1 Probably Genetic survey. We screen for keywords such as childhood epilepsy and eye roll seizures on Google, common terms that could indicate a potential SYNGAP1 diagnosis, to advertise the Probably Genetic Survey. This way, we can encourage more undiagnosed SYNGAP1 patients and families to fill out the survey, and subsequently receive genetic testing and a diagnosis. We use the Google Ad dashboard to monitor our engagement and to make adjustments so that our ads will be better received by our target audience. 

Unique URLs

We make unique URLs for our Probably Genetic Could it be SYNGAP1? survey to track where participants are coming from. Using a dashboard provided by Probaby Genetic, we can see if people came to the survey from Google Ads, from our SRF website, or from SRF members promoting the survey in relevant groups they are a part of. 

Sample report of clicks from Google Ads & our unique URLs

Mailchimp

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 use Mailchimp to send an email to these patients who may have SYNGAP1, encouraging them to get genetic testing and providing suggestions on where/how to do this. We also invite these patients and their families to join the Probably Syngap1 Facebook Group.

Additionally, we use Mailchimp to continue providing resources to SYNGAP1 patients. This email marketing service allows us to send informational emails to our SYNGAP1 email list. Through Mailchimp, we can track how many patients open our emails, and can then send follow up emails or come up with ways to encourage more people to click on our emails.

Sample Mailchimp report

Facebook Groups

We have set up Facebook groups, one for diagnosed SYNGAP1 patients and their families, as well as one for potential SYNGAP1 patients and families who are awaiting genetic test results after completing the Probably Genetic survey. These two groups were set up to bring people together in community, allowing us to keep track of SYNGAP1 patients and potential SYNGAP1 patients. In these Facebook groups, we send out various resources that may be helpful to the families. Additionally, these Facebook groups serve as communities for SYNGAP1 patients and families to meet one another and share with each other. 

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. 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. 

We recently started a partnership with Ambit Healthcare, a technology company committed to helping rare disease patients, which enables potential SYNGAP1 patients to receive free genetic testing and counseling. Additionally, Probably Genetic is starting a partnership with Mahzi Therapeutics, a health and biotechnology company, which offers genetic testing to potential rare disease patients 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. 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.

In the future, we want to see more potential SYNGAP1 patients benefiting from these partnerships. Through these various partnerships and methods of outreach, it is our goal to provide as many resources as possible to undiagnosed patients, and by doing so increase the SYNGAP1 diagnosed patient population.