Rare Diseases Can Be Better Treated Due to Quality Diagnosis
- U-Report
VIVA – Minister of Health Budi Gunadi Sadikin conveyed that by increasing the diagnosis quality in Indonesia, rare diseases can be treated much better than before.
“The increasing in rare diseases’ diagnosis requires accurate laboratory tests, particularly at health services facilities,” Minister Sadikin said during a discussion on “Establish Paradigm of Health with Rare Disorders,” on Tuesday.
Without early detection, diagnosis, and treatment, the minister said, patients with rare disorders could face issues. Currently, genetic abnormalities, such as those related to chromosomes, genetic makeup, or others, cause 80 percent of global cases of rare diseases.
Menteri kesehatan RI Budi Gunadi Sadikin di Istana Kepresidenan, Jakarta
- Biro Pers, Media dan Informasi Sekretariat Presiden
Genetic abnormalities that occur can include chromosomal abnormalities, damage to certain genes, or multiple factors. The remaining 20 percent are caused by non-genetic factors, such as the environment or other factors that influence the pregnancy process.
Meanwhile, based on type, around 7000 types of rare diseases have been identified. However, the availability of drugs only covers about 5 percent.
Therefore, the Health ministry is encouraging an improvement in early detection and diagnosis to ensure a more orderly treatment that could provide the families of patients some semblance of peace.
Minister Sadikin also commended efforts conducted by a company offering free chromosomal microarray analysis (CMA), a type of genetic test. The company has also taken the initiative to commemorate Rare Disease Day on February 28.
"There needs to be collaboration and partnership with many stakeholders, including in making the diagnosis of rare diseases in Indonesia," Minister Sadikin said.
For instance, in the United States, a disease is considered rare if it affects less than 200 thousand of the country's population, or has a patient ratio of 1:1500. Meanwhile in Europe, for a disorder to be declared rare, its occurrence needs to be lower than 5:10,000.
In Japan, disorders affecting less than 50 thousand people, or with a patient ratio of 1:2,500, are called rare. Currently, more than 70 percent of patients affected by rare disorders are toddlers and children.
Some of the known rare disorders include the Pierre-Robin Syndrome, Treacher-Collins Syndrome, DiGeorge Syndrome, Donohue Syndrome, Joubert Syndrome, and Immunogenic Thrombocytopenic Purpura.
