MEDICAL CODING OF RARE DISEASES IN ICD-11: making uncommon diseases evident in health information systems through suitable coding

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There are hundreds of rare diseases, disorders, and ailments; the precise number is impossible to determine because it depends on the definitions of both what qualifies as a clinical entity and what the threshold for rarity is.

In some parts of the world, policies that encourage industry investment in the development of treatments for rare diseases are used to determine the threshold for rarity.

Until recently there was no systematic effort to establish an inventory of rare disorders(diseases).

This prevented clinical research from being done and made it difficult to determine and recognise their importance for healthcare planning and budget allocation. 

This led to a lack of knowledge of their epidemiology and poor comprehension of their natural history.

In healthcare coding systems, genetic illnesses and other rare diseases had long been underrepresented because of their individual rarity.

Nonetheless, OrphaNet, first established in 1997, not only collected information on rare diseases published in the scientific literature but also classified each clinical entity being assigned an Orpha number.

Today, OrphaNet has become the reference source of information on rare diseases, providing high-quality information on rare diseases and expertise.

The World Health Organisation Rare Diseases Topic Advisory Group (TAG) was established in April 2007, to ensure that rare diseases would soon be traceable in mortality and morbidity information systems.

Orphanet was tasked with creating the fundamental data that would serve as the foundation for the ICD-11 classification of rare diseases. Given that rare diseases affect many facets of medicine, it helped with the entire ICD revision process.

The following slides show the progress toward the use of ICD-11 in the medical coding of rare diseases.

New in ICD-11 2022

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All World Health Organisation(WHO) Member States are been encouraged to follow their commitment to move on to The Eleventh Revision of The International Classification of Diseases (ICD) documented with their approval of ICD-11 at the 72nd meeting of the World Health Assembly in 2019, and use the most current version of ICD i.e. ICD-11 for recording and reporting mortality and morbidity statistics both nationally and internationally.

The following infographic shows what’s new in ICD-11:

References:

  1. ICD-11 2022 release, News, World Health Organisation, Available from, https://www.who.int/news/item/11-02-2022-icd-11-2022-release

ICD-11 2022 Use Cases

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The Eleventh Revision of The International Classification of Diseases (ICD) i.e. ICD-11 continues to provide a common language that allows health professionals to share standardized information across the world.

This latest 2022 revision contains around 17 000 unique codes, and more than 120 000 codable terms and is now entirely digital.

The following infographic shows that ICD-11 was specifically designed for the following use cases:

 

References:

  1. ICD-11 2022 release, News, World Health Organisation, Available from, https://www.who.int/news/item/11-02-2022-icd-11-2022-release

EMR in the Twelfth Plan

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As the healthcare industry transitions to digitisation, the Electronic Medical Records / Electronic Health Records (EMR / EHR) systems that store patients’ health information in a digital format are becoming increasingly popular.

Many governments encourage doctors to use EMR / EHR systems and invest in the training of healthcare information technology professionals. An April 2021 report by Grand View Research, Inc. reports that with Government initiatives to encourage healthcare Internet Technology (IT) usage, the global EHR market was valued at USD 26.8 billion in 2020 and is expected to witness a compound annual growth rate (CAGR) of 3.7% from 2021. According to Bloomberg, the CAGR rate is expected to peak at 3.30% and be worth $ 33.69 billion globally by 2028.

For instance, the Government of Malaysia joins this increasing zeal to adopt digital platforms for the continued use of digital technologies in the healthcare field. Therefore, it aims to implement a uniform system for maintaining EMR / EHR by public hospitals and healthcare providers.

The Twelfth Malaysia Plan 2021-2025 (aka Twelfth Plan or 12MP or Malaysia 5 Year Plan), like all previous Malaysia 5 Year Plans starting from the first plan introduced in 1965, is Malaysia’s version of a comprehensive outline of government development policies and strategies. The Twelfth Plan period beginning the year 2021 up to 2025 was tabled in parliament on the 27th of September 2021 for implementation.

The sub-section Leveraging Technology and the sub-section Digitalising Healthcare Services under section Priority Area B, Strategy B3 as a part of the entire Twelfth Plan document gives special mention to EMR implementation. These sections highlight that the government will continue all efforts in the healthcare subsector to digitalise healthcare services to ensure seamless utilisation of information to solve the issue of fragmented health information systems, thereby reducing costs and unnecessary procedures.

One aspect of this digitalisation plan initiative is to leverage an emerging technology like the EMR. This initiative will be rolled out in phases to ensure the seamless flow of information among healthcare facilities and create a lifetime health record.

However, following an attempt to implement an EMR system nationwide for the 146 hospitals in Malaysia, the then Minister of Health first mooted, spoke to the media in November 2018. He said that an EMR system for all government hospitals and clinics in Malaysia could be realised within three years and completed over the next five years.

Mid-2020, the new administration in charge after a change of government, the new Minister of Health, revealed in a written reply to a Parliament session that 25% of all government hospitals and 9% of all 1090 public health clinics were already using an EMR system. Furthermore, his replies added that ten hospitals and a public health clinic were also sharing digital records through a health information exchange platform called MyHix. The Minister also gave details in his replies about an EMR pilot implementation in Negeri Sembilan. This pilot trialed an EMR system that covered online patient registration & appointment, electronic payments, and virtual consultation involved seven hospitals, 44 public health clinics, and 12 dental clinics under Phase One of the National EMR Project.

To quote Benjamin Franklin, Founding Father of the United States, when he said, “By failing to prepare, you are preparing to fail.” So let us hope this time around Malaysia will genuinely realise its dream of a successful EMR implementation by knowing what it wants and needs and knowing what to expect. If any, few people would contest the long-term benefits of a quality EMR system.

References:

  1. EMR implementation for public hospitals and clinics to cost RM1.5B, says Malaysian Health Minister, HIMSS, retrieved Oct 16, 2021. Available online: https://www.healthcareitnews.com/news/asia/emr-implementation-public-hospitals-and-clinics-cost-rm15b-says-malaysian-health-minister
  2. Electronic medical record system to cost Putrajaya up to RM1.5b, The Edge Markets, retrieved Oct 16, 2021. Available online: https://www.theedgemarkets.com/article/electronic-medical-record-system-cost-putrajaya-rm15b
  3. Electronic Health Record Market worth $ 33.69 Billion, Globally, by 2028 at 3.30% CAGR: Verified Market Research, Business, Bloomberg, retrieved Oct 16, 2021. Available online: https://www.bloomberg.com/press-releases/2021-07-15/electronic-health-record-market-worth-33-69-billion-globally-by-2028-at-3-30-cagr-verified-market-research
  4. Electronic Health Records Market Size, Share & Trends Analysis Report By Type (Post-acute, Acute), By End-use (Ambulatory Care, Hospitals), By Product (Web-, Client-server-based), By Business Models, And Segment Forecasts, 2021 – 2028, Report Overview, retrieved Oct 16, 2021. Available online: https://www.grandviewresearch.com/industry-analysis/electronic-health-records-ehr-market
  5. Twelfth Malaysia Plan 2021 – 2025, retrieved Oct 16, 2021. Available online: https://rmke12.epu.gov.my/en