In this blog post, we will examine the necessity of sharing personal genetic information for the advancement of genetic engineering and the ethical and social issues that arise from it.
It has been more than a decade since the movie “Gattaca,” which depicted a world where human genes could be freely modified and interpreted, shocked the world. So, are we now living in a society like the one depicted in Gattaca, where we can manipulate our genes to avoid diseases we are prone to or to obtain the genes we desire, or even modify the genes of our future children? From the perspective of a researcher studying technology for transferring genes into cells, the answer is no. Paradoxically, although the ethics of genetic engineering has been actively debated for the past decade, the technology itself is still far beyond our imagination. Looking more closely, research on gene interpretation, or “which genes cause which diseases or characteristics in humans,” is actively underway in the US and the UK, but it is extremely difficult to conduct such research in Korea. This is because Korean researchers have very limited access to genetic and trait information. This raises the question of what genetic and trait information actually is. Also, why should genetic and trait information be actively provided to researchers? Are there any problems with providing patient information? Can these problems be solved? In the first place, why are genetic engineering and genetic interpretation important? Let’s delve deeper into the world of genetic engineering while answering these questions one by one.
What can genetic engineering bring us? To be blunt, it is the field that will make the greatest contribution to humanity reaching the age of 100. Genetic engineering is already gaining attention as an alternative treatment for incurable diseases. By decoding the genetic sequences of patients with specific diseases and comparing them with those of healthy people, it is possible to identify the genes that cause unusual diseases. Based on this, it is possible to predict diseases to which an individual is susceptible and prevent them through early screening. In addition, for diseases such as cancer and depression, where the dosage and type of medication vary depending on the individual’s genes, genetic testing can be used to easily find medications tailored to an individual’s genes, putting an end to the pain of having to spend months or even years searching for the right medication. Furthermore, by utilizing a phenomenon called gene silencing, which inhibits gene activity, it is possible to develop “gene therapies” that treat diseases by reducing the activity of specific genes that cause disease. This is attracting attention as a revolutionary new drug that can treat Alzheimer’s disease and malignant melanoma, which are currently considered incurable, as well as breast cancer and pancreatic cancer, which are difficult to treat because they are located in hard-to-reach areas, and is expanding its field worldwide. The fruits that genetic engineering will bring us are very sweet.
Three major technologies are required to advance the promising field of genetic engineering. First, gene sequencing technology is needed to identify which genes are present in the body. Next, the problem of gene interpretation, or determining which genes cause which diseases or traits, must be solved. Finally, we need gene editing tools that can cut, paste, or connect genes based on the interpreted genes. The first and third technologies have already advanced to a considerable level, but gene interpretation is still an unknown area that requires active research. Furthermore, without sufficient research on gene interpretation, i.e., without knowing which genes are problematic and which parts of the body they affect, gene sequences are nothing more than useless repetitions of letters. Therefore, gene interpretation research is the key to the advancement of genetic engineering and is currently the most important field of research.
Let’s take a closer look at this field of “gene interpretation.” Gene interpretation means knowing the “traits” of a specific gene. When a specific gene is active and gives a living organism a certain shape, attribute, or disease, this is called a trait, which includes hair color, diabetes, and height. Genes are interpreted by conducting an experiment called a genome-wide association study, which compares the collection of these traits with gene sequences. This experiment compares gene groups extracted from patients with diseases and healthy people to find genes that are more common in patients than in healthy people. In simple terms, it is an experiment to determine and predict how the information encoded in human DNA manifests itself in various traits, such as disease states. This experiment requires a large number of gene and trait combinations because the reliability of the research can only be ensured by repeatedly verifying specific genes estimated from studies of people with specific diseases in a much larger population. Therefore, for genetic interpretation research, it is essential to share genetic information related to traits, including some medical information.
In line with global trends, genetic engineering research is currently being actively promoted in South Korea. However, compared to the level of gene sequencing and editing technology, the level of gene interpretation is far behind. The reason for this is that the sharing of genetic information related to traits is fundamentally prohibited in Korean research facilities, so gene interpretation research in Korea is limited to reanalyzing overseas research results or exploring the correlation between genes and traits using only very limited data obtained from a single hospital. As a result, when utilizing overseas results, only results that do not match the genes and traits of Koreans could be obtained, and because only limited data was used, the quality of research declined, slowing down research in the field of gene interpretation and ultimately hindering the development of genetic engineering in Korea as a whole. In contrast, the United States recognized the importance of genetic information early on and collects information from hospitals and other institutions. The National Institutes of Health (NIH) then modifies and processes the information so that the source cannot be identified and provides it to research groups for use as genetic information for research purposes. In order to overcome this situation, it is urgent to establish a well-processed “Korean genetic and trait information database for research purposes” in Korea.
Issues related to the provision of genetic and trait information are inevitably linked to sensitive matters such as privacy infringement. Therefore, there may be various criticisms regarding the sharing of genetic and trait information for research purposes. Even if genetic and trait data is modified and de-identified, it may provide clues that could identify individuals in the future as trait analysis technology advances. Although the possibility of this happening is currently very low, some have argued that if genetic and trait data are interpreted, there is a risk of genetic discrimination that could affect employment and insurance. However, looking at the example of the United States, which has already overcome the above criticisms and established a database for research sharing, we will try to find clues on how to implement this in Korea in the future.
First, the US NIH strictly manages research groups that receive data support regarding information management and privacy violations. Specifically, if research content that may violate privacy is discovered during the research process, support is immediately withdrawn, and in order to protect the privacy of patients who provided information, information protected by this law is subject to criminal punishment even if obtained by an unauthorized person. In addition, the Genetic Discrimination Act was passed by the US Congress in 2008, prohibiting access to personal genetic information by employers and insurance companies, and prohibiting discrimination based on genetic information related to diseases that have not yet occurred. The contents of the law are quite complex, but ultimately, the important point in this discussion is that the state is taking the initiative to focus on information leakage, privacy protection, and the prevention of genetic discrimination. Reflecting this, it is necessary to proceed with the enactment of relevant laws and discussions as soon as possible through tripartite discussions between research groups, hospitals, scientists, patient groups who will provide information, and the National Health Insurance Service and Ministry of Health and Welfare, which are responsible for administration. In addition, in order to ensure that the above standards are not violated in the process of managing this information, it would be possible to make the process fairer and safer by establishing an organization that understands genetic information well and is capable of providing advice and monitoring. In the UK, for example, a private organization called Genetic Watchdogs and a Human Genetic Commission consisting of about 400 experts and senior government officials are actively supervising the enactment and progress of laws to balance the development of related technologies and safety.
In fact, from some perspectives, there is no better country than Korea for genetic interpretation research. With a high level of education and encouragement in the medical field, there are many highly skilled medical and life science researchers, and the National Health Insurance Service integrates and manages the medical information of the entire population, making it easy to collect medical information. In addition, there has been little change in the gene pool due to the influx of other ethnic groups in Korea, making it easier to obtain uniform data. Furthermore, thanks to the development of the IT industry in Korea, the country is a global leader in technology for efficiently collecting and encrypting medical information using various IT mechanisms, led by KAIST’s Graduate School of Information Security, which makes it even more advantageous to provide genetic and trait information securely. If we can take advantage of these strengths and fully activate the use of genetic and trait information in Korea, we will be able to conduct genetic interpretation research tailored to Koreans more efficiently. Furthermore, if genetic engineering technologies such as personalized drug search and gene therapy developed based on this are integrated with world-class Korean medical technology and IT technology, it will be possible to treat incurable diseases that are common among Koreans, such as hepatitis C and stomach cancer, and greatly contribute to improving the health of our people.
