If mastery of genome technology becomes more sophisticated, genome mapping data becomes more complete, disease patterns can be mapped.

The modernization of the national health system continues to move forward. Not long ago the Ministry of Health launched a program to collect data on the genomic population of Indonesia.

The program, named Biomedical and Genome Science Initiative (BGSI), aims to collect data on 10,000 genomes and pathogens related to the Indonesian population by 2024 and will continue to increase in the following years.

This project involves private partners and a genetic platform providing start-up companies, with the aim of providing precision medical services. If the mastery of genome technology in Indonesia becomes more advanced, genomic mapping data becomes more complete, and disease patterns can be mapped, both nationally and individually.

The BGSI program is promoted to research the development of treatments for six major diseases, namely cancer, infectious diseases, brain and neurodegenerative diseases, metabolic disorders, genetic disorders, and aging.

The BGSI program is being implemented in seven hospitals, namely the National General Hospital (RSUPN) Cipto Mangunkusumo Jakarta, the National Brain Center Hospital Mahar Mardjono Jakarta, Sulianti Saroso Hospital Jakarta, Persahabatan Hospital Jakarta, Dharmais Cancer Hospital Jakarta, Sardjito Hospital Yogyakarta, and Prof. I Goesti Ngoerah Gde Ngoerah Bali Hospital.

Two years ago, the Eijkman Molecular Biology Institute (LBM) - now disbanded - also successfully conducted a large-scale study mapping the DNA of various ethnic groups throughout Indonesia.

The results reported in the Journal of Human Genetics concluded that all tribes in Indonesia today are the result of inter-tribal intermarriage that has lasted for tens of thousands of years.

Biologically, there is not a single person in Indonesia who has "pure" blood of only one ethnicity. This is the fact of Bhinneka Tunggal Ika in biological sense, which is expected to further strengthen our Indonesian identity. Now, the genome mapping program initiated by the Ministry of Health can be considered as a continuation of the DNA mapping program, but with a more focused purpose, namely for biomedical interests.

LBM Eijkman, before being disbanded, had an international reputation, especially in terms of mastery of molecular biology technology. In 2021, when the Covid-19 pandemic was still raging, this institution succeeded in taking samples of 1,000 whole genome sequences (SWG) of the SARS-CoV 2 virus from patients in Indonesia and sending them to the Global Initiative on Sharing All Influenza database. Data (GISAID).

From these notes, Indonesia is not a new player in the field of molecular biology. Unfortunately, the Eijkman Institute was even disbanded at a time when it demonstrated its important role.

Thankfully, the Ministry of Health continues the mission that has already been initiated by the Eijkman Institute for Molecular Biology through the Genome Mapping program. The presentation of each person's genome data will make disease diagnosis more precise, allowing doctors to identify the source of the disease and provide more specific and personalized treatment.

Thus, genomic technology will support precision treatment and treatment costs can be further reduced. The trend of seeking medical treatment abroad could decrease as our healthcare system becomes more advanced and of higher quality. Healthcare funds could be redirected towards strengthening preventive and promotive health policies.

Genome, marker of individual identity

Genome is a collection of genes that store genetic information arranged in the form of a DNA (deoxyribonucleic acid) molecule strand required for developing the activities of every organism.

The genetic makeup of each human being is different from each other and this can be a marker of identity, like fingerprints or irises. For a long time, fingerprints have been used as a distinctive marker of a person's identity, especially in investigating crime cases. Technology is increasingly developing to the point that the iris of the eye is used as a distinctive marker of a person in facial recognition technology.

Similarly, the genome can be used as a marker for someone's physical attributes with far greater precision. We know this through DNA examination methods.

Every human has around three billion nucleotides (base pairs) located in 23 pairs of chromosomes inside the nucleus of all human body cells.

Each chromosome contains hundreds to thousands of genes that carry instruction codes for creating proteins. Using this genetic information, a person's biological traits can be learned, such as their genetic mutation history from their parents or ancestors, their resilience and vulnerability to a particular disease, and which treatment methods are most appropriate.

The diversity or genetic variation of humans is very extensive. The difference in genetic variation between each individual can have a significant impact, as seen from the phenotype or physical and molecular shape of their bodily cells. The effects of this genetic variation can be beneficial, detrimental, or both beneficial and detrimental at the same time.

Most Asians, and particularly Koreans, have a genetic variation on the ABCC11 gene on chromosome 16. This gene determines whether or not body odor is present. Genetic mutations on this gene can cause Koreans to not have body odor, and generally, this is considered an advantage.

The ABCC11 gene also determines the type of earwax a person has, whether it is very dry and powdery or very sticky and wet. Genetic differences will make each person have unique characteristics or traits that are different from others, even identical twins.

There is another example of genetic mutation that can be harmful, one of which is called the Philadelphia chromosome, when chromosomes 9 and 22 undergo a misplaced exchange or translocation, causing them to stick together in an inappropriate location. This results in the individual being more prone to chronic leukemia in old age.

The phenomenon of the Philadelphia chromosome was first explained by Peter C. Nowell of the University of Pennsylvania in the 1960s. This marked the beginning of our understanding of the influence of gene mutations on the development of cancer.

Genetic variations can have both advantages and disadvantages. One well-known example is skin color, which is determined by the amount of melanin. People with lighter skin have less melanin, making it easier for sunlight to penetrate the skin. This is advantageous because it helps the synthesis of vitamin D3, which is the active form of vitamin D.

However, at the same time, the abundance of sunlight exposure containing UV radiation will increase the risk of skin cancer occurrence.

Towards precision medicine

If genetic mapping can reach all citizens, this will open the door to what is called precision medicine, namely the development of medical science with new methods that combine advances in other fields, such as biology. molecular, digital technology, artificial intelligence (AI), psychosocial, as well as understanding the environment and lifestyle, to be combined with medical science.

One of the developments in precision medicine can be seen in the treatment of breast cancer. The human genes known to play a role in breast cancer are the breast cancer gene (BRCA) 1 and 2 which are located on chromosomes 17 and 13.

The occurrence of mutations in both of these genes may allow breast cancer to become more aggressive, recurrent, and tend to spread to other organs such as the brain and lungs. In many countries, including Indonesia, screening for mutations in the BRCA 1 and 2 genes has become routine. If someone has these mutated genes, their treatment will be tailored to their individual condition in order to make the therapy more precise and personalized.

Hollywood actress, Angelina Jolie, in 2013 made the decision to undergo a bilateral preventive mastectomy (removal of both breasts) as a precautionary measure to prevent the progression of her breast cancer. Prior to this, her biological mother had passed away from breast cancer. Based on genetic testing, it was discovered that Jolie had a mutation in the BRCA1 gene.

Based on this, he decided to have both breasts removed to prevent a more fatal incident. This is an example of visionary utilization of genomic testing for precision medicine.

The goal of genetic testing is to generate individualized diagnoses, medical treatments, and more targeted and efficient therapies for each patient. This is a type of healthcare customization that addresses the weakness that "what works for one person may not work for another".

Medical practice continues to experience progress and has now adopted advancements based on the implementation of algorithms and AI that consider patient characteristics in a highly individualized manner.

Algorithm and AI accurately can map DNA information, genomes, as well as epigenetic responses to environmental and lifestyle changes. This will make diagnoses more precise, leading to more accurate medical actions and treatments, which will differ for each individual.

Even if there are several patients with the same disease and comorbidities, their treatment could differ depending on the genetic mapping readings.

Looking at this development, precision treatment methods may later be applied for several other types of illnesses, such as cardiovascular disease, which is the leading cause of global mortality and is significantly linked to genetic factors. Personalized treatment methods will be adjusted based on the patient's genomic, epigenomic, and proteomic profile.

The Fred Hutchinson Cancer Center study in Seattle found that there are more than 100 new genetic risk factors that are strongly associated with colorectal cancer through analysis of large-scale biological data, such as the genome, proteome and transcriptome.

This finding has the potential to pave the way for more effective screening and preventative therapies, allowing doctors to identify individuals who are at a higher risk of developing aggressive colorectal cancer, a disease that can actually be prevented and treated if caught early.

Progress in fast and affordable genomic sequencing technology, coupled with developments in digital data storage technology, has a wide-ranging impact. This enables the collection of billions of data on pathophysiology, DNA-genomics, microbiomes, medical history, personal characteristics, and so on, in a highly efficient format.

This genomic data has been used, for example, to diagnose and treat diabetes mellitus (DM) or diabetes. Several large hospitals, such as RSCM, in collaboration with the Ministry of Health, have carried out recruitment, sampling and clinical examination for DM genomic research.

It is targeted that by the end of 2023 data can be collected on 1,000 target subject patients. This data collection will eventually lead, among other things, topharmacogenomic, the development of treatment formulas based on individual or group genomic data.

The project to map the human genome of Indonesia is a fundamental project in gathering biological data needed in achieving precision medicine. The method of precision treatment will reduce the cost of caring and treating chronic and severe diseases, such as heart disease, kidney failure, stroke, and cancer, which have been the main focus of BPJS financing.

Djoko Santoso
Professor of Medicine Airlangga University
Chair of the East Java MUI Health Board

The following article was translated using both Microsoft Azure Open AI and Google Translation AI. The original article can be found in Pemetaan Genomik Manusia Indonesia