PMSF has applied to the CDC for an ICD Code for Phelan-McDermid syndrome. Our Scientific Director shares why this is important for rare diseases like Phelan-McDermid syndrome.
ICD stands for “International Classification of Diseases” and is a list of codes that can be used to track health conditions within medical systems. These codes are organized by the World Health Organization internationally, and by the Centers for Disease Control (CDC) in the U.S. Many rare disorders, like Phelan-McDermid syndrome don’t have their own code. Applying for our own code is a critical step for bringing attention to PMS and organizing data on PMS.
When a person is diagnosed with PMS, they are given a code within the medical system that is non-specific and can be associated with tens to hundreds of other disorders. These non-specific codes often have a vague name such as “deletions on chromosomes.”
Having our own code is crucial for:
- Attracting interest from pharmaceutical companies in developing and/or testing a drug on people with PMS. Companies like to know the disorder is recognized officially, and that there is a significant patient population
- Collecting public health data such as the economic burden of PMS, information on insurance claims, and the number of people who have PMS
- Collecting data which can help form more accurate cost-benefit analyses for support services offered by certain states
These are just some of the reasons that PMSF is invested in this and why unique ICD codes have been pursued by other groups advocating for rare diseases. Disorders with symptoms similar to PMS, such as Angelman syndrome, Dravet syndrome, and Syngap1-related Intellectual Disability, have been successful in receiving their own codes.
The first step in the process is applying to the Centers for Disease Control (CDC) with a letter including medical information about the disorder. The letter argues that this is a distinct disorder which requires its own code. PMSF hired a medical coding expert to help draft this technical document over the past few months. We submitted this document to the CDC in early June.
The next steps will be to ask medical advisers, partner organizations, and pharmaceutical companies to express their support that PMS requires its own code. Ultimately, we hope a medical advisor will be invited to present to a review committee at an upcoming CDC meeting. These meetings occur twice per year. In total, the entire ICD code review and approval process can take 18 months or more.
Unfortunately, moving forward is not a guarantee – we have been hearing that this process can be an uphill battle for rare diseases, and sometimes organizations go quite a long time before hearing back. We hope that we will be able to present at the next meeting in September of 2022.
We are undertaking other projects like this as part of our roadmap in science, and we plan to update the community with a visual representation of this roadmap soon. We plan to be updating our research page with current and future projects within the next few months: https://pmsf.org/accelerating-research/
Click here to watch this video on our YouTube channel.
Kate Still, PhD – Scientific Director