HomeScienceGeneticsRare Disease PTEN Hamartoma Tumor Syndrome (PHTS) Assigned International Classification of Diseases...

Rare Disease PTEN Hamartoma Tumor Syndrome (PHTS) Assigned International Classification of Diseases (ICD) Code

CHELTENHAM, England–()–PTEN Research Foundation, a charity that funds and facilitates research to develop new and better treatments for PTEN Hamartoma Tumor Syndrome (PHTS), today announced that the rare genetic disease, PHTS, has a new and unique disease received code in the International Classification of Diseases Revision 10, Clinical Modification (ICD-10-CM) system administered by the US Center for Disease Control and Prevention (CDC). The new code will be included in the October 1, 2022 revision.

The ICD-10-CM System uses a list of alphanumeric codes to document a person’s medical condition in their medical records. For example, a person with a migraine headache receives a code from category G43 and a person with a urinary tract infection an N39.0 code. Now individuals with PHTS are assigned the Q85.81 code. These codes are routinely used for health insurance billing and reimbursement, as well as supporting clinical, natural history, and epidemiological research.

PHTS is a disease caused by a change in the PTEN gene. Such a change, which can be inherited from the mother or father or occurs spontaneously during embryonic development, can affect multiple organs and result in a variety of symptoms. These include macrocephaly (enlarged head circumference), learning disabilities, autism spectrum disorder, vascular anomalies, gastrointestinal polyps (growths in the gut), and hamartomas (benign lesions of the skin and other tissues). In addition, people with PHTS have a significantly increased risk of developing breast, thyroid, and endometrial cancers (the lining of the uterus).

“Having a unique code for PHTS is an important milestone not only for the individuals and their families affected by the condition, but also for researchers working in the field of PHTS,” said Thomas Pepper, Chief Executive 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 will support PHTS research including epidemiological and natural history studies.”

In September 2021, PTEN Research Foundation in collaboration with Prof. Charis Eng, and David Flannery MD of Cleveland Clinic Genomic Medicine Institute, and Prof. Marc Tischkowitz, of the Department of Medical Genetics at Cambridge University, UK submitted the 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 (AMP), the American Health Information Management Association (AHIMA), and pharmaceutical companies interested in PHTS Research.

“The problem with the existing codes was that they simply didn’t allow PHTS to be registered as a condition that can only be diagnosed by genetic testing,” said Prof. Eng, one of the world’s leading researchers of the condition. “The new code Q85.81 is unique to PHTS and the selection of a Q code is appropriate for a disease that we know is caused by a genetic alteration. It will be beneficial for both patients and physicians as it provides improved effectiveness of care and greater efficiency to conduct clinical trials to improve treatments.”

While ICD-10 is the current coding system in most countries (with ICD-10-CM being the specific system for the US), a future major revision (ICD-11) is already under development under the auspices of the World Health Organization (WHO). The team has already filed an application with WHO with the goal of ensuring that PHTS continues to have its own unique code and that the ICD-10-CM and ICD-11 codes for PHTS are aligned.

About PHTS

PHTS is a rare genetic disorder caused by an alteration in the PTEN (phosphatase and tensin homolog) gene that results in a variety of symptoms in multiple organs. These changes, which can be inherited from the mother or father or occur spontaneously during embryonic development, can lead to a variety of symptoms. These include macrocephaly (enlarged head circumference), learning disabilities, autism spectrum disorder, vascular anomalies, gastrointestinal polyps (growths in the gut), and hamartomas (benign lesions of the skin and other tissues). In addition, people with PHTS have an increased lifetime risk of developing cancer, especially breast, thyroid and endometrial cancers (the lining of the uterus). Estimating the prevalence of PHTS is complex because of the diverse presentations and diagnoses that patients may have and because some features (eg, benign breast lesions) are also common in the general population. The prevalence of PHTS is estimated to be about 1 in 200,000, although this is probably an underestimate.

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

About PTEN Research Foundation

PTEN Research Foundation was established in 2017 as a charity under English law (charity number 1173589). The Foundation’s mission is to fund and facilitate research that will lead to new and better treatments for individuals with PHTS. PTEN Research Foundation aims to have transformative therapies available as treatment options for people with PHTS within 10 years.

The Foundation’s strategy is focused on generating preclinical and clinical evidence that will enable the Foundation and others (both academic staff and industry) to develop treatment options for people with PHTS.

www.PTENresearch.org

About ICD-10-CM and rare diseases

It is estimated that about 7,000 rare diseases are known, but currently only about 500 are included in the ICD system. The lack of an appropriate disease-specific code can create difficulties in accessing insurance and benefits for affected individuals and their families. The lack of a specific code also complicates research into these disorders. For example, it has been difficult to estimate the incidence and prevalence of PHTS due to the varying presentations and because some features are also common in the general population.

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