CSO Corner Volume 2: ICD-10 Codes

Hello fellow members of our KS family!

For this newsletter, I’d like to talk about ICD-10 codes, and why we are currently applying to the Centers for Disease Control (CDC) to create an ICD-10 code for Kleefstra Syndrome (KS). If you aren’t in the medical field, you are probably saying “ICD what?” Don’t worry, I’ll take you through it.

Whenever you go to the doctor with an ailment, they will enter your diagnosis into a coding system that precisely defines what is wrong. These ICD¹ codes allow for patients to easily be tracked and looked up in medical record systems. They are also used by insurance companies to help determine coverage that will be provided for interventions. The list of all available codes can easily be searched with a tool provided by the CDC.

To understand the importance of having a code (and since it’s winter) imagine you have an accident on the ski slopes. There’s already a code for that in ICD-10! But imagine there isn’t such a code. In that world, your doctor could only enter the symptoms you experienced: maybe headache, a sprain of your knee, a fracture, a chipped tooth, etc. All of the effects of your accident are then in the tracking system, but not the true cause.

Now imagine a doctor years later wants to do a scientific review of all skiing accidents seen in the medical system. How were they treated? What was the outcome? What was the recovery rate? Recovery time? Readmission rate? Prognosis? Associated conditions? It would be really challenging to look all these up, because the cause was never tracked. For example, if the doctor searches the code for sprained knees, many types of accidents can cause those, so they wouldn’t be getting a clear picture.

This is where we are right now with Kleefstra Syndrome. When our family members are seen in the clinic, the doctor will enter codes for the manifestations of KS, such as intellectual disability, autism, seizures, etc. But there is no code for the root cause. And as we know, KS can show up differently in different people. Therefore, finding and tracking KS patients in the medical records systems is challenging. Without a KS ICD-10 code:

• It is much harder to determine how many patients have been diagnosed with KS
• It is much harder to for doctors to monitor patients to ensure they are getting all the appropriate tests, interventions, and care
• It is much harder to determine all the symptoms, treatments, and outcomes that may be associated with KS
• It is much harder to recruit patients for clinical studies or clinical trials

There are plenty of other challenges as well, but you get the picture.

Now all of that said, you can’t just request a code for your disorder at the corner store. These codes are used throughout the medical system in the United States (and, in different forms, in many other countries) and need to be centrally controlled by authorities. Otherwise, different doctors would use different codes, and we’d be back where we started! That’s why, in the U.S. at least, there is an application process that goes through a special committee at the CDC.

We’ve submitted a formal application to this committee for a code for KS, and we’ve now been invited to give a presentation! Dr. Siddharth Srivastava (“Dr. Sid”) from the KS clinic at Boston Children’s Hospital will deliver the presentation on March 8. While getting a presentation doesn’t guarantee that a code will be created for KS, it gives us a chance to make our case, and explain all of the benefits that it would provide to our community if granted.

Importantly, one of the factors that will come into play is the prevalence of KS. As I discussed in last month’s article, we can do a pretty good job estimating how many people have KS in the population by using high-quality data to build a scientific model. But we also know there is a huge challenge with under-diagnosis in KS. As part of its evaluation, the CDC wants to see that there are diagnosed patients who would make use of the new code right away, once it is released.

So, there is an opportunity for you to make a difference: if you haven’t yet signed up for the KS Worldwide Map, now is the time to do it! We will take these total numbers of verified, diagnosed patients to the CDC as part of our presentation. It could truly be the difference between getting a code approved, and having to wait and re-apply in the future. Let’s make this happen for our families!

Until next time,

Eric Scheeff, PhD

IDefine Chief Scientific Officer

¹ICD stands for “International Statistical Classification of Diseases and Related Health Problems,” but that’s not critical for this discussion.