RARE Daily

Rare Genetic Disease PTEN Gets an IDC Code

October 3, 2022

The International Classification of Diseases revision 10, Clinical Modification system, which is managed by the U.S. Centers for Disease Control and Prevention, has assigned a unique disease code to PTEN hamartoma tumor, a rare genetic disease.

Photo: Thomas Pepper, CEO of PTEN Research Foundation

The system uses a list of alphanumeric codes to document an individual’s medical condition in their medical records. Individuals with PTEN hamartoma tumor syndrome (PHTS) will be allocated the Q85.81 code. These codes are used routinely for health insurance billing and reimbursement, and also support clinical, natural history, and epidemiological research.

Though nearly 11,000 rare diseases have been identified, only about 500 are currently listed in the ICD system. The lack of an appropriate disease-specific code can create difficulties accessing insurance and reimbursement for affected individuals and their families. Lack of a specific code also hampers research into these conditions.

PHTS is a disease caused by a mutation in the PTEN gene. Symptoms can affect a number of organs and can include enlarged head circumference, learning difficulties, autism spectrum disorder, vascular anomalies, gastrointestinal polyps, and benign lesions of the skin and other tissues known as hamartomas. In addition, people with PHTS have a significantly increased risk of developing cancer of the breast, thyroid, and lining of the womb.

There are currently no health authority-approved treatments specific to PHTS, and clinical management consists mainly of cancer surveillance and supportive care. The need for cancer surveillance and lifelong supportive care places a high burden on affected individuals, their families, and on healthcare systems.

“Having a unique code for PHTS is a major milestone not only for the individuals and their families affected by the condition but also for researchers working in the area of PHTS.” said Thomas Pepper, CEO of PTEN Research Foundation, a not-for-profit organization with a mission to fund and facilitate research that will lead to new and better treatments for PHTS. “We believe the new code will improve awareness of PHTS and patient care by facilitating access to multidisciplinary treatment, and that it will support PHTS research including epidemiological and natural history studies.”

In September 2021, PTEN Research Foundation in partnership with Charis Eng and David Flannery from Cleveland Clinic Genomic Medicine Institute, and Marc Tischkowitz from the Department of Medical Genetics at Cambridge University, UK presented an application to the CDC ICD-10-CM Coordination and Maintenance Committee for a new unique code for PHTS. The application was supported by leading physicians involved in the care of individuals with PHTS around the world, PHTS patient organizations, the Association for Molecule Pathology, the American Health Information Management Association, and pharmaceutical companies with an interest in PHTS research.

“The issue with the existing codes was that they simply did not allow recording of PHTS as a condition that can only be diagnosed by genetic testing,” said Prof. Eng, one of the world’s leading investigators in the disorder. “The new code Q85.81 is unique to PHTS and the selection of a Q code is appropriate for a disease we know is caused by a genetic alteration. It will be helpful to both patients and physicians as it provides enhanced efficacy of care as well as increased efficiency to conduct clinical trials to improve treatments.”

Author: Rare Daily Staff

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