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Rare Disease PTEN Hamartoma Tumour Syndrome (PHTS) Granted International Classification of Diseases (ICD) Code



CHELTENHAM, England–()–PTEN Research Foundation, a charity which funds and facilitates research with the aim of developing new and better treatments for PTEN Hamartoma Tumour Syndrome (PHTS), today announced that the rare genetic disease, PHTS, has been given a new and unique disease code in the International Classification of Diseases revision 10, Clinical Modification (ICD-10-CM) system that is managed by the US Center for Disease Control and Prevention (CDC). The new code will be incorporated in the October 1, 2022 revision.

The ICD-10-CM system uses a list of alphanumeric codes to document an individual’s medical condition in their medical records. For example, a person experiencing migraine headaches will receive a code from category G43 and a person with a urinary tract infection will receive an N39.0 code. Now, individuals with 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.

PHTS is a disease caused by an alteration in the PTEN gene. Such an alteration, which may be inherited from the mother or father or occur spontaneously during embryonic development, can affect multiple organs and result in a variety of symptoms. These include macrocephaly (enlarged head circumference), learning difficulties, 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 cancer of the breast, thyroid and endometrium (lining of the womb).

“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, Chief Executive of PTEN Research Foundation, a not-for-profit organisation 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 Prof. Charis Eng, and David Flannery M.D. from Cleveland Clinic Genomic Medicine Institute, and Prof. Marc Tischkowitz, from the Department of Medical Genetics at Cambridge University, UK presented 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 organisations, the Association for Molecule Pathology (AMP), the American Health Information Management Association (AHIMA), 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.”

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

About PHTS

PHTS is a rare genetic disorder caused by alteration in the PTEN (phosphatase and tensin homolog) gene that results in a variety of symptoms in multiple organs. These alterations, which may be inherited from the mother or father or occur spontaneously during embryonic development, can result in a variety of symptoms. These include macrocephaly (enlarged head circumference), learning difficulties, 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, particularly breast, thyroid, and endometrial (lining of the womb) cancer. Estimating the prevalence of PHTS is complex due to the varied presentations and diagnoses patients can have and because some features (e.g. benign breast lesions) also commonly occur in the general population. The prevalence of PHTS is estimated to be about 1 in 200,000, although this is likely to be an underestimate.

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.

About PTEN Research Foundation

PTEN Research Foundation was established as a charity under English law in 2017 (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 centred on the generation of preclinical and clinical evidence that will enable the Foundation, and others (both academic collaborators and industry), to develop treatment options for people with PHTS.

www.PTENresearch.org

About ICD-10-CM and Rare Diseases

It is estimated that there are around 7000 known rare diseases, but 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. For example, it has been difficult to estimate the incidence and prevalence of PHTS because of its varied presentations and because some features also commonly occur in the general population.



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