Rare Diseases Potentially Detected Through Free Health Check Programs

JAKARTA - The inspection or free health check (CKG) initiated by the government is not only useful for monitoring general health conditions, but also has the potential to help detect rare diseases early on.

Through this program, people from various ages ranging from newborns to the elderly have access to examinations which can be the first step to recognize health problems that rarely occur.

Director of Prevention and Control of Directly Infectious Diseases (P2PML) of the Ministry of Health, dr. Siti Nadia Tarmizi, said that by utilizing CKG, people have a greater chance of knowing their health condition, including the possibility of symptoms of rare diseases such as Type 1 Neurofibrowas (NF1).

We have a free health check program that reaches various age groups. For example, in children, there is monitoring of growth and development which also includes screening. Although not specific, this examination can provide an early picture of the potential for rare diseases," said dr. Nadia in a discussion about NF1 in Jakarta, as quoted by ANTARA.

He added, although CKG has not been able to directly detect all rare diseases, this program targets groups of people who have not accessed health services, around 8-10 percent of the population. Thus, CKG is an entry point to increase awareness and awareness of health conditions, including those that rarely occur.

Furthermore, Nadia explained that examinations in the CKG program could provide indications of several serious conditions such as congenital hypothyroid syndrome, bile duct disorder, congenital heart disease, talasemia, to diabetes in children.

"For NF1, the symptoms are not easily recognized, but CKG helps reach groups of people who have been feeling healthy and have never examined themselves," he added.

On the other hand, the Ministry of Health is also developing facilities to support the detection of rare diseases through genomic analysis. One of them is at the Central General Hospital dr. Sardjito, Yogyakarta, which is now starting to develop the technology in the early stages. Hopefully, this innovation can accelerate the process of identifying the cause of rare diseases.

The Ministry of Health is also working with the private sector and the media to promote education and socialization about the importance of recognizing rare diseases. We involve various stakeholders in this educational effort. Although services for rare diseases have not become a top priority, cooperation for the development of genetic examination has started walking with experts," said dr. Nadia.