Genetic engineering holds great promise for treating terminal diseases and developing personalized medicine, but gene interpretation research is still uncharted territory. To advance genetic engineering in Korea, it is necessary to share genetic information and enact relevant laws.
It’s been more than a decade since the movie “Gattaca” shocked the world with its depiction of a time when human genes can be modified and interpreted at will, but does the technology really exist today to manipulate my genes to avoid diseases I might get, or to modify my genes for the customized genes I want, or to modify the genes of fertilized egg candidates who might become my children in the future? From the perspective of a researcher who is currently working on the technology to deliver genes into cells, the answer is no. Ironically, while the ethics of genetic manipulation have been hotly debated for more than a decade, the technology is still a mere speck in our imagination. If we look more closely, the problem of gene interpretation, i.e., “Which gene causes which disease or trait in a person?” is currently being actively researched in the United States, the United Kingdom, and other countries, but it is extremely difficult to research in Korea. The reason is that there is too little gene and trait information available to researchers in Korea. You may be wondering, what is genetic and trait information? Also, why do we need to actively provide genetic and trait information to researchers? Is there a problem with providing information from patients? Can they be solved? Why is genetic engineering and genetic interpretation important in the first place? Let’s answer these questions one by one and dive deeper into the world of genetic engineering.
What can genetic engineering bring us? Arguably, it’s the field that will make the biggest contribution to the human centenarian era. By decoding the genetic sequence of a patient with a certain disease and comparing it to a normal person, we can identify the genes that cause a particular disease. Based on this, you can predict which diseases you are vulnerable to and prevent them through early testing. In addition, for diseases that require different dosages and types of medicines depending on the individual’s genes, such as anti-cancer drugs or depression medicines, genetic testing can be used to easily find medicines that are customized to the individual’s genes, ending the painful process of finding the right medication over months or years. In addition, a phenomenon called gene silencing, which inhibits the activity of genes, could be used to develop “gene therapies” – drugs that treat diseases by lowering the activity of specific genes that cause them. This is currently being used to treat incurable diseases such as Alzheimer’s, malignant melanoma, and hard-to-treat breast and pancreatic cancers, and is gaining traction around the world. The promise of genetic engineering is very sweet.
To advance this promising field, three main technologies are required. First, we need the ability to decode genetic sequences, which tells us “which genes are in the body”. Next, we need to solve the problem of gene “interpretation,” which is to figure out which genes cause which diseases or traits. And finally, we need “gene editing tools” that allow us to cut, paste, or link genes to other genes as desired based on the interpreted genes. While the first and third technologies have already been developed to a significant degree, gene interpretation is still an uncharted territory that needs to be explored, and without it, a gene sequence is nothing more than a useless repetition of the alphabet, as we don’t know what the gene in question is and what part of our body it expresses, so gene interpretation is the key to advancing genetic engineering and the area that needs the most research right now.
Let’s take a closer look at the field of gene interpretation. Gene interpretation means knowing the “traits” of a particular gene. When a gene is active and causes an organism to have a certain shape, property, or disease, it is called a trait, which includes things like hair color, the presence of a disease like diabetes, or height. Genes are interpreted by comparing a collection of these traits to a gene’s sequence in an experiment called a genome-wide association study. The idea is to compare gene populations from patients with disease and healthy people and look for genes that are more common in patients than in healthy people. In other words, the experiment attempts to determine and predict how the information encoded in human DNA predicts traits such as various disease states. This experiment requires a large number of gene and trait combinations, and the reliability of the study can only be secured by repeatedly verifying the specific genes estimated by studying people with specific diseases in a much larger population. Therefore, sharing of genetic and trait information, including a large amount of medical information, is essential for gene interpretation research.
In Korea, genetic engineering research is currently being actively promoted in line with the global trend. However, compared to the level of gene sequence decoding and editing technology, the level of gene interpretation is far behind. The reason for this is that Korea’s research facilities are prohibited from sharing genetic information and related trait information, so gene interpretation research in Korea is limited to simply reanalyzing overseas research results or exploring the correlation between genes and traits using only very limited data from a single hospital. As a result, when using overseas results, only results that do not match the genes and traits of Koreans can be obtained, and the quality of the research is low due to the limited data, which slows down the pace of research in the field of gene interpretation, which in turn hinders the development of genetic engineering in Korea as a whole. In contrast, in the United States, the National Institutes of Health (NIH), which realized the importance of genetic information-related trait information early on, collects information from hospitals and other institutions, modifies and processes the information so that the information provider cannot be identified, and provides it to each research group under the name of genetic information-related trait information for research. To overcome this situation, it is urgent to establish a well-processed Korean customized genetic and trait information database for research in Korea.
The issue of providing genetic and trait information is often related to sensitive issues such as privacy issues. Therefore, there are many criticisms of sharing genetic and trait information for research. Even for genetic and trait data that is highly modified and non-specific, future advances in trait analysis technology could provide the basis for identifying individuals. It has also been argued that genetic and trait data, if interpreted, could pose a risk of genetic discrimination in employment or insurance, although this is currently very unlikely. However, by looking at the example of the United States, which has already overcome the above criticisms and established a database for research sharing, we will find clues on how to implement it in Korea in the future.
First of all, the NIH strictly manages research groups that receive data support regarding information management and privacy violations. Specifically, if a research group is found to be violating privacy during the course of research, their funding is immediately revoked, and unauthorized persons can be criminally prosecuted for obtaining information protected by this law to protect the privacy of the patients who provided the information. In addition, the Genetic Nondiscrimination Act was passed by the U.S. Congress in 2008, which prohibits access to a person’s genetic information in the workplace or by insurance companies, and further prohibits discrimination based on genetic information related to a disease that has not yet occurred. The details of the law are quite complex, but at the end of the day, the important thing to take away from this discussion is that the state has stepped up to the plate, focusing on protecting privacy and preventing genetic discrimination. In light of this, it is necessary to enact and discuss the law as soon as possible through a three-way discussion between hospitals and scientists as the research group, patients as the party providing the information, and the Health Insurance Corporation and the Ministry of Health and Welfare as the management body. In addition, it would be fairer and safer to establish an organization that understands genetic information and can advise and monitor it so that the above standards are not violated in the process of managing this information. In the UK, genetic watchdogs, a private organization, and the human genetic commission, a group of more than 400 experts and senior civil servants, are actively overseeing the development and implementation of the law, balancing safety with technological advances.
In fact, there is no better place to study genetic interpretation than Korea, where there are many highly qualified medical and life sciences researchers due to the high level of education and encouragement of medical-related fields, and where medical information is easy to collect because the National Health Insurance Service manages the medical information of the entire population. In addition, there is little change in the gene pool due to the influx of other races in Korea, making it easier to obtain uniform data. In addition, thanks to the development of Korea’s IT industry, Korea is leading the world in technology to efficiently collect and encrypt medical information using various IT organizations, including KAIST’s Graduate School of Information Security, which is more advantageous for providing genetic and trait information safely. If we can make good use of these advantages and fully activate the use of genetic and trait information in Korea, we can more efficiently conduct gene interpretation research tailored to Koreans. Furthermore, if genetic engineering technologies such as personalized drug discovery and gene therapy can be combined with world-class Korean medical and IT technologies, they can contribute to the treatment of incurable diseases such as hepatitis C and stomach cancer and improve the health of Koreans.
