Promoting Precision Medicine
Precision medicine will enable each patient to receive more sensitive screening, more precise diagnoses, and more effective medical treatment.
Not long ago, Deputy Health Minister Dante Saksono Harbuwono said precision medicine was a necessity for future health services.
Precision medicine will enable each patient to receive more sensitive screening, more precise diagnoses, and more effective medical treatment. This was conveyed by Dante in his inaugural speech as Professor of Internal Medicine at the School of Medicine, University of Indonesia (Kompas, 23/8/2022).
According to Dante, evidence-based medicine is in fact not enough to address various public health problems, such as the problem of diabetes mellitus. In the case of diabetes mellitus treatment in Indonesia, only about 30 percent of patients have controlled blood sugar after taking the drug. It means that the remaining 70 percent of patients have uncontrolled blood sugar. It can occur because everyone has a different response to drugs. They cannot be generalized.
Dante also mentioned another population-based study, which showed DPP 4 (dipeptidyl peptidase IV) inhibitor therapy responded better in Asian populations than Caucasians. The response to metformin therapy also differs between African-American and European-American populations.
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According to Dante, diabetes mellitus therapy is not only given based on clinical and supporting characteristics in general, but also based on the differentiating factors of each individual. This can show the cause of the disease, factors that influence the course of the disease and the response to therapy.
That is why, with precision medicine that combines evidence-based medicine and genetic information, it will be known what drugs are effective in a person after sequencing. Precision medicine also makes it possible to predict complications that can be experienced based on the patient's genetic pattern so that the diagnosis and therapy given can be directed at preventing these possible complications.
Research and the constant search for more precise diagnoses and more effective treatment is certainly interesting and rewarding.
Get to know precision medicine
In fact, precision medicine is not a separate branch of medical science, but a new method that combines the use of a number of advances, such as genetics or molecular biology, digital technology, especially artificial intelligence, psychosocial and understanding of the environment and lifestyle, to be combined with medical science.
The goal is to produce diagnoses and medical treatments that are more precise and efficient in a personal, unequal manner. This is a kind of health service customization, addressing the weakness that "what is suitable for one person may not be suitable for another person."
Everyone has physical, psychological and personality differences that are not the same as one another. An example of a marker of differences is our fingerprint, which has been used as an analytical method for handling crimes. As a marker of difference in the medical world, we have genes, where each person has different chromosome strands that cause physical differences.
Experts have long researched the characteristics of genes. During the Covid-19 pandemic, geneticists from several countries collaborated under the Global Initiative on Sharing Avian Influenza Data (GISAID) to collect and sequence the genome of the SARS CoV-2 virus around the world in order to determine its characteristics so that its handling can be more effective. Our genetic experts played a role in sequencing the genome of the SARS CoV-2 virus that entered Indonesia and donating the mapping results to GISAID.
Everyone has physical, psychological and personality differences that are not the same as one another.
This exciting advance in genetics is the advent of the amazing gene editing technology. Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) gene editing is a method of gene editing by cutting and pasting targeted genes into the DNA. The term was first coined in the 1990s in archaea and bacteria that contain copies of the viral gene, organisms that protect cells from infection. This research and discovery of the DNA editing method (CRISPR Cas9) opens up opportunities to mitigate the occurrence of a person's disease or disability in the future.
The Fred Hutchinson Cancer Center in Seattle, the United States, discovered more than 100 new genetic risk factors strongly associated with colorectal cancer, through analysis using large-scale biological datasets, such as the genome, proteome and transcriptome.
This study has the potential to pave the way for better screening and preventive therapy. This allows doctors to determine who is at higher risk of developing malignant colorectal cancer, a disease that can be prevented and treated (Peter, journal Nature Genetics, 2022).
So, precision medicine is more of a method of optimizing medical services, both for prevention and targeted treatment, by taking advantage of advances in other disciplines, such as molecular biology, data digitization and AI. Along with the progress of science and technology, especially in medicine and health, the average human age or life expectancy is increasing day by day.
According to Leroy E Hood, to increase life expectancy medicine must increasingly focus on achieving four things, namely prediction, prevention, personalization and participation.
From the past to the present, medical practice has focused more on the traditional reactive model of medicine which is based on symptoms, diagnosis and treatment. At the point of prevention, it means that medicine must move away from traditional reactive models of medicine to models that target or prevent potential diseases before they occur.
Personalization means, if the disease occurs and cannot be avoided, then the method of treatment is in a more personalized manner, adapting to the patient's physical, cellular, biomolecular, genetic and non-physical identification. This is one example of the implementation of precision medicine.
It can be said that this precision medicine is the latest episode in a long series of evolution of medical science. In ancient times, the practice of medicine was based on the signs and symptoms exhibited by patients and the treatment was based solely on the individual expertise of the doctor and was thus called intuitive medicine.
Now, medical practice is based on evidence resulting from a long series of scientific research and a rigorous process of testing called clinical trials, so it is referred to as "evidence-based medicine."
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Both then and now, medical practice is still dominated or oriented towards reactive medicine.
Medical practice is advancing and is now starting to be based on the use of algorithms and AI that takes into account the very individual characteristics of patients. Algorithms and AI will be able to accurately map DNA, genomes, epigenetic responses to changes in the environment, lifestyle so that they can predict and target diseases precisely.
It is then called precision medicine, which is more personal to the patient. Diagnosis, medical treatment and treatment will be more precise and it can differ from one patient to another even though, for example, both suffer from diabetes mellitus and have the same comorbidities.
From here, this precision medicine can be directed to be oriented toward prevention. By recognizing a person's genetic peculiarities and lifestyle, with the ability of AI, potential disease can be identified and then scenarios for preventive actions can be prepared so that the disease does not occur.
Even if the disease eventually appears and cannot be avoided, medical action and treatment can be prepared from an early age, in a very personal way. This is the pinnacle of hope in precision medicine. So, we are now in the process of moving from a reactive medical culture to a more personalized and preventive precision medicine culture.
Precision medicine
The development of precision medicine was then followed by the emergence of the term "precision medicine." More than a decade ago, a US National Research Council publication called "precision" the better term to refer to the classification of people into subpopulations using the same genetic patterns, lifestyle, drug responses, environmental factors and culture.
As such, precision medicine is an innovative approach in which a series of information generated daily within the healthcare system is used to provide the most efficient treatment and at the right time so that patients will get the best benefit.
Precision medicine is not meant to design a unique treatment for each patient, nor is it to design a specific drug for one patient as it would be technically difficult and expensive, but to utilize individual character maps using available genetic data. The development of DNA sequencing methods is currently accelerating and becoming cheaper.
Ten years ago, genome sequencing cost about US$1 billion and took about 13 years. Today the cost has been cut considerably to just $1,500 and takes only a few hours.
At the same time, there have been rapid advances in data storage technology. A simple example, hard disk data storage embedded in laptops 20 years ago had a capacity of around 32 GB; now it is in the range of 500 GB to 1 TB.
The storage is also in a more compact dimension. In the past we used thick and heavy conventional hard disks, while now it is enough with small and light SSDs.
In the coming years, precision medicine will likely become practicable for a number of diseases. For example, cardiovascular disease is the leading cause of death worldwide and it is linked to substantial genetic factors. Thus, personalized treatment methods can adapt therapeutic and preventive strategies, based on each patient's genomic, epigenomic and proteomic profiles.
This method will really help cardiologists and health care providers to choose the most appropriate individual drug with the least side effects so that the treatment will be more perfect.
It is the same with cancer, which is the result of genomic abnormalities. Different types of cancer can have very different genetic profiles. By tracking a patient's tumor genetic profile, doctors can learn the most appropriate form of treatment and medication for each patient.
Several precision treatments for cancer already target specific molecular markers that are only found in certain types of cancer. For example, colon cancers that have a normal functioning version of a surface protein called KRAS are more likely to respond to certain anti-EGFR antibody therapies.
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Two other types of targeted cancer treatments currently used are Herceptin and Opdivo, immunotherapy treatments that target enhancing the body's immune system to be able to fight cancer cell attacks (as opposed to treatment methods that target destroying cancer cells).
This method is quite successful and in some cases can remove all visible markers of metastatic cancer, within a few weeks. Because of these successes, science magazine named cancer immunotherapy a breakthrough in 2013.
Thus, it appears that the combination of advances in genome sequencing technology that is getting faster and cheaper, as well as advances in data storage technology, has far-reaching implications. This makes it possible to collect billions of data on pathophysiology, DNA-genome, microbiome, medical history and personal characteristics in a concise format that greatly assists in the process of precise diagnosis and treatment.
In the end, precision medicine methods will reduce the cost of treating chronic and catastrophic diseases, such as heart disease, kidney failure, stroke and cancer, which have so far dominated the funding of the Health Care and Social Security Agency (BPJS Kesehatan).
With precision medicine, hopefully in the future the funding of the BPJS can be allocated evenly for various other diseases so that the national health service will be equitable and have better quality.
Djoko Santoso
Djoko Santoso,Professor of Medicine at Airlangga University, Chairman of MUI’s Health Department
This article was translated by Hendarsyah Tarmizi.
