85 - SYNGAP1 Assigned An ICD-10 Code:  F78.A1

You have important news to share with your clinician in the US

The CDC announced that SYNGAP1 has been assigned an ICD-10 code in the US, effective on October 1, 2021 along with 159 other new codes.

We reported over a year ago (March, 2020) that SYNGAP1 could soon have its own code. We recently featured the topic in our podcast (start at 2:25). And that day has arrived.

The SYNGAP1 diagnosis code, F78.A1, falls under the F category of diseases representing mental, behavioral and neurodevelopmental disorders. Having an ICD-10 code will help our patients get access to services, medicines and attention more easily. As a SYNGAP1 family member or caregiver, you need to make your clinician aware and ask them to add this diagnosis code to the medical record.

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‍What is an ICD-10 code?

‍The International Classification of Disease (ICD) coding system is the global standard for classifying and coding patient diagnoses, symptoms, and procedures. Per Wikipedia, it is “the code used for the purpose of documenting a person's medical condition. An ICD code is needed for a person's medical records—it is important for health insurance reimbursement, administration, epidemiology, and research.” 

The ICD system is governed jointly by the World Health Organization (WHO), the Centers for Medicare and Medicaid Services (CMS), and the Centers for Disease Control and Prevention (CDC). First introduced in 1948 and updated on a regular basis, it is now in its 10th edition.

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Why is this so important?

Until now, SYNGAP1 has not had a code. Instead, our patients have accumulated codes for their symptoms: epilepsy, hypotonia, developmental delay, etc. Those codes are adequate for insurance billing and to obtain some services, but they don’t provide a way to accurately track or learn from SYNGAP1 patients and their experiences across healthcare systems. There hasn’t been a way to indicate in a medical record in any measurable way, “This patient has SYNGAP1.”

Having a unique ICD code for SYNGAP1 will provide valuable insights into the actual number and demographics of patients, the range and severity of their symptoms, the types of treatments, testing, and services they are receiving, and the impact that interventions are having. The code could help simplify and streamline the insurance approval process for patients, making it easier to receive the most appropriate and beneficial care. 

And further, being able to report accurately on the high costs associated in caring for SYNGAP1 patients could motivate and foster more research, quickening the development of new therapies and treatments. Once tangible numbers are available, the urgency we feel as the SynGAP community will spread.

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“How can I help?”

We ask families and caregivers to share the news and the new code with all their healthcare providers. Ask every doctor, specialist, therapist, and hospital to add the code F78.A1 to patient records and insurance claims. Let’s get this code into the medical record of every SynGAP patient!

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Special thanks to...

It was Hans Schlecht, MD, MMSc, a SynGAP parent and a Director of the Syngap Research Fund, who first submitted a proposal for the creation of a new SYNGAP1 code & has diligently advocated for it ever since. Dr. Schlecht is a tireless advocate for ICD coding for rare genetic disease as evidenced by his submission to the ASGH about a new approach for the same. Indeed, the Everylife Foundation wrote a case study on his work in the recent ICD-10 Roadmap.

After his effective engagement with the CDC, SYNGAP1 was chosen for consideration at the March 2020 review meeting. Connie Smith-Hicks, MD, PhD of Kennedy Krieger at Johns Hopkins presented the proposal at the six-hour virtual meeting! 

SRF is very grateful for this decision and the potential for enhanced patient care and research progress it represents. We’re also extremely grateful to Dr. Schlecht for his tireless and determined advocacy, Dr. Smith-Hicks for the investment of her time and expertise, and all involved who made this happen.

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Why is this only in the US? There are SYNGAP1 patients everywhere.

Good question. ICD codes are published by the WHO and then adopted by countries. ICD-10 was first endorsed by the WHO in 1990, but no adopted in the US until 2015. New diseases are created and codes needed each year, so after adopting ICD-10, individual countries do updates annually. F78.A1 is a US update to our version of the ICD-10 codes. We encourage advocates in other countries to use this example as a way to request the same code in your country.

The way we get one code worldwide is by working with the WHO on including SYNGAP1 in ICD-11. Don't worry, Hans has been working on that for months... stay tuned. Here is a screen shot of Hans' account with the WHO ICD-11 Maintenance Platform.

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