Challenges of diagnosis and management rare diseases in Indonesia
Damayanti Rusli Sjarif
National Center of Diagnosis and Integrated Treatment of Rare Diseases Dr Ciptomangunkusumo National Referral Hospital , Jakarta,Human Genetic Research Cluster IMERIFaculty of Medicine Universitas Indonesia
The medical services for rare diseases actually began when the first Indonesian pediatrician finished her training in clinical metabolic diseases and medical genetics in the Netherlands. Since 2000, the clinical screening of inborn errors of metabolism, a mostly treatable rare diseases is applied, the confirmatory diagnosis is sent abroad and several treatable inborn errors of metabolism were confirmed, but mostly was too late. Another problems was the unavailable of orphan foods and orphan drugs. Based on these situation we developed the system to better recognized and treated in Indonesia
Identified the problems in diagnosis and management of inborn errors of metabolism and provide the solutions
There are 3 problems identified the unawareness of health worker on inborn errors of metabolism as a treatable rare diseases, unavailable local metabolomic laboratory and high cost of courier services for abroad diagnostics and unclear system importation of orphan foods and orphan drugs.
Strategy to solve the problems are increased the knowledge of health worker by implemented module genetic diseases (80% of rare diseases are genetic disorders) into the medical curriculum for undergraduates(2005), pediatrics (2001) and subspecialization (2010) . Since 2015, Human Genetic Research Cluster developing system for metabolomics diagnostics using LCMS/MS. Since 2016, Center of Rare Diseases RSCM, Ministry of health, Indonesian FDA (BPOM), Ministry of Finance (Customs) and Patient Organization developed easy accessed system for orphan food and orphan drugs and tax exemption. In 2017, Center of Excellences Diagnosis and Integrated Management of Rare Diseases Dr Ciptomangunkusumo National Referral Hospital Jakarta formally assigned by Minister of Health as National Referral for Rare Diseases.
Although still far from ideal, at least the infrastructures to diagnose and treated rare diseases already available in Indonesia.
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