Disease prevention and treatment using genetic information has been attracting a great deal of attention due to recent advances in medical technology. Genetic analysis has made it possible to understand disease risks and lead to lifestyle improvements and early treatment. This article will explain in detail how genetic information can be useful in disease prevention and treatment.
What is genetic information?
Genetic information is the blueprint for an organism, recorded in DNA. The human body has approximately 20,000 to 25,000 genes, each with a specific function. Differences in genes result in individual differences in susceptibility to disease and the effectiveness of medicines.
Recent advances in genome research have revealed the relationship between genes and disease. For example, it has been discovered that people with certain gene mutations are more likely to develop diabetes or high blood pressure.
Disease prevention through genetic analysis
1. Genetic risk assessment
Genetic analysis can help you understand what diseases you are prone to. For example, the following diseases are associated with specific gene mutations:
Alzheimer’s disease (APOE gene)
Breast cancer (BRCA1 and BRCA2 genes)
Diabetes (TCF7L2 gene)
Carrying these genes does not guarantee that you will develop the disease, but knowing your risk can help you take appropriate preventative measures.
2. Improving lifestyle habits
If you are found to have a high genetic risk, you can prevent the disease by reviewing your lifestyle. For example, if you are at high risk of diabetes, the following measures are effective:
Low-sugar diet
Regular exercise (aerobic and strength training)
Stress management
If you are at high risk of cancer, it is recommended that you quit smoking, drink alcohol in moderation, and eat a balanced diet.
3. Early detection and regular checkups
If genetic analysis reveals a high risk of cancer or heart disease, early detection can be achieved through regular health checkups. For example, women at high risk of breast cancer can receive treatment at an early stage through regular mammograms.
Precision medicine is an approach that selects the most appropriate treatment for each individual based on genetic information.
1. Medication selection
It is known that the effects and side effects of drugs vary depending on genes. For example, the effectiveness of anti-cancer drugs varies greatly depending on an individual’s genetic information. This makes it possible to select the most appropriate drug for each patient.
2. Gene Therapy
Gene therapy is a treatment that modifies genes that cause disease. For example, gene editing using CRISPR-Cas9 technology is revolutionizing the treatment of genetic diseases. Gene therapy has already been put into practical use for some blood disorders.
Challenges in utilizing genetic information
1. Ethical issues
Genetic information is deeply related to personal privacy and must be handled with care. Appropriate legislation is necessary because genetic information may have adverse effects on insurance and employment.
2. Precision Issues
Although genetic analysis technology has advanced, it is not possible to accurately predict the risk of all diseases. Environmental factors and lifestyle habits also play a major role, making it difficult to determine disease based on genetic information alone.
3. Cost and access issues
Although the cost of genetic analysis is gradually decreasing, it is still expensive compared to general health checkups. In addition, not everyone can undergo genetic analysis, which may lead to disparities in healthcare.
Research results and evidence
There are many studies on disease prevention using genetic information. Below are some examples.
The relationship between genetic risk of diabetes and lifestyle habits (National Institute of Genetics)
When utilizing genetic information, appropriate counseling by a specialist is important. Genetic counselors explain the results of genetic tests in an easy-to-understand manner and support patients and their families in making appropriate decisions.
Counseling for people who may have a genetic disorder can have the following benefits:
Understand disease risks and choose appropriate lifestyle choices
Determine the need for preventive measures and regular checkups
Learn about the genetic influence on your family
2. Types of Genetic Testing
There are many different types of tests that utilize genetic information.
a. Genetic testing at a medical institution
Genetic testing performed at hospitals and clinics is used to diagnose certain diseases and determine treatment options. For example, BRCA1 and BRCA2 gene testing for breast cancer can predict the risk of developing breast cancer and help select preventative treatment options.
b. Direct-to-Consumer (DTC) genetic testing
In recent years, genetic testing that individuals can order directly (DTC genetic testing) has become popular. This makes it possible to easily check genetic information at home. The main test items include the following:
Risk of developing diseases (diabetes, heart disease, cancer, etc.)
Exercise and nutritional suitability
However, since the results of DTC genetic testing are for reference only and differ from diagnoses made by medical institutions, it is recommended not to rely on them too much and to seek the opinion of an expert.
3. Advances in gene editing technology
Among the treatments that utilize genetic information, gene editing technology is attracting attention. In particular, CRISPR-Cas9 technology is a groundbreaking method that makes it possible to treat genetic diseases by modifying specific genes.
Treatment of genetic diseases
Gene editing technology is already undergoing clinical trials for blood disorders such as sickle cell disease and beta-thalassemia , opening up new possibilities for treating diseases that have been difficult to cure using conventional treatments.
b. Application to cancer treatment
Research is also progressing on gene editing technology to suppress the growth of cancer cells, and treatments that target specific genes are being developed. For example, CAR-T therapy, which strengthens immune cells, is a technology that genetically manipulates the patient’s own immune cells to improve their ability to attack cancer cells.
4. Genetic Information and Personalized Nutrition
Genetic information is used not only for disease prevention but also for nutritional management. **Personalized nutrition** is an approach that suggests optimal diet and nutritional balance for each individual based on genetic information.
For example, the following research is being conducted:
The relationship between genes related to lipid metabolism and diet
It has been found that some people are prone to slowing down their lipid metabolism due to certain genetic mutations, so appropriate dietary advice based on genetic information can lead to more effective weight loss.
The relationship between caffeine metabolism rate and genes
It has been suggested that people with certain genetic mutations metabolize caffeine more slowly, potentially increasing their cardiovascular risk when consuming caffeine.
Nutritional management based on genetic information may be useful in preventing obesity and lifestyle-related diseases, and future research is anticipated.
Social challenges in utilizing genetic information
1. Risk of genetic discrimination
While disease prediction based on genetic information is progressing, concerns are also growing about the issue of genetic discrimination.
For example, there is a possibility that insurance companies may use genetic information to restrict insurance coverage for high-risk individuals. Also, in the workplace, people with certain genes may be disadvantaged, so appropriate laws and regulations are required.
2. Misunderstanding of information and the need for appropriate education
Understanding genetic information requires specialized knowledge, and it is important to ensure that the general public does not misinterpret it. For example, even if someone is diagnosed with a “high risk of cancer,” it is possible that they may become anxious and undergo unnecessary medical procedures, even though this does not necessarily mean that they will develop the disease.
Therefore, there is a need for educational programs to help people make the most of genetic information and for a support system provided by experts.
References/research results
Research into disease prevention using genetic information is being conducted at many academic institutions. Below are some examples.
“Realizing personalized medicine using genomic information” (RIKEN)
Genetic Information and the Future of Personalized Medicine
1. AI medicine using genetic information
Advances in artificial intelligence (AI) technology have made it possible to analyze genetic information more precisely and quickly. AI analyzes massive amounts of genome data, helping to predict disease risk and optimize personalized medicine.
For example, a diagnostic system that utilizes AI can bring the following benefits:
Early cancer detection : AI analyzes genetic mutation patterns and accurately predicts risk before the onset of cancer
Optimizing personalized treatment : Proposing optimal treatment based on each patient’s genetic information
Improving drug discovery efficiency : AI analyzes genetic data to discover new therapeutic drug targets
This is expected to enable earlier and more appropriate intervention than conventional medical care, improving the quality of medical care.
2. The relationship between genetic information and mental illness
Recent research has revealed that genetic factors are also involved in psychiatric disorders such as depression and schizophrenia.
a. Depression and Genes
Depression is a disease that is related to both environmental and genetic factors, but it has been pointed out that certain genes may increase the risk of developing depression. For example, it has been reported that mutations in **SLC6A4 (serotonin transporter gene)** increase vulnerability to stress and increase the risk of developing depression.
b. Schizophrenia and Genes
Schizophrenia is a disease that is strongly influenced by genetic factors, and multiple gene mutations are known to be associated with it. In particular , the DISC1 gene and COMT gene are thought to affect the risk of developing schizophrenia.
With further research, it may become possible to predict the risk of mental illness based on genetic information and take preventative measures.
3. Genetic information and sports science
The use of genetic information is also increasing in the field of sports science. Genes affect muscle types and endurance characteristics, and training programs based on this information are being developed.
For example, the following genes are known to be associated with athletic ability:
ACTN3 gene : Involved in fast-twitch muscle (explosive power), advantageous for sprinting and weightlifting
PPARGC1A gene : Involved in endurance, advantageous for marathons and cycling
Using this information, it is possible to create a training plan that is tailored to each individual athlete.
While the use of genetic information is increasing, privacy and ethical issues are also becoming increasingly important.
a. Ensuring data privacy
Genetic information is one of the most sensitive personal data, and if it is not managed properly, there is a risk that it could be misused. For example, it has been pointed out that genetic information could lead to discrimination in insurance premiums and that individuals’ health risks could be made known to companies.
To prevent this problem, various countries have enacted laws to protect genetic data. For example, the US Genetic Information Nondiscrimination Act (GINA) prohibits discrimination on the basis of genetic information.
b. Ethical issues of gene editing
Gene editing using CRISPR-Cas9 technology has the potential to not only treat diseases but also potentially alter genes in ways similar to “designer babies.” This has sparked considerable ethical debate, and calls for the development of regulations in each country.
5. Expansion of healthcare business utilizing genetic information
The healthcare market utilizing genetic information is expected to continue to expand in the future. In particular, the following businesses are experiencing growth:
Personalized supplements : A service that suggests optimal nutrition for individuals based on genetic information
Genetic Analysis Kits : The Market for Direct-to-Consumer Genetic Testing Expands
Digital health app : Development of an app that supports health management based on genetic information
Companies are actively investing in this field, and new services that utilize genetic information are being developed.
6. International research and cooperation on genetic information
Genetic research cannot be carried out by a single country; international collaboration is essential. Research institutions around the world are working together to share genome data and develop new treatments.
For example, the following international projects are currently underway:
Human Genome Project (HGP) : An international project to sequence the entire human genome
The Cancer Genome Atlas (TCGA) : A project to elucidate genetic mutations in cancer and develop new treatments
Global Alliance for Genomics and Health (GA4GH) : Promoting international standardization of genetic data
These efforts are paving the way for a future of medical care that utilizes genetic information.
The use of genetic information is expected to continue to develop in various fields and contribute to the realization of more precise medical care and health management.
Future medical care utilizing genetic information
1. Gene-based vaccine development
Genetic technology has played an important role in vaccine development in recent years, and the success of mRNA vaccines in particular symbolizes the advancement of medical care utilizing genetic information.
a. How mRNA vaccines work
While conventional vaccines have mainly used weakened or inactivated viruses to induce immunity, mRNA vaccines deliver the gene (mRNA) that encodes the viral spike protein into the body, causing the immune system to produce antibodies to prevent infection.
b. Cancer vaccine application
Genetic technology is also being used to develop cancer vaccines. By creating vaccines that target genetic mutations in specific cancer cells, researchers are researching treatments that strengthen the immune system and suppress the progression of cancer.
2. Utilizing genetic data and big data
As medical care becomes increasingly digitalized, combining genetic information with big data is enabling more accurate diagnosis and treatment.
a. Genomic data integration
Sharing genome data among research institutions around the world will help clarify the relationship between genetic patterns and disease. For example, analyzing the genome data of people with genetic diseases will enable the development of new treatments and preventative measures.
b. Building predictive models using AI
AI analyzes vast amounts of genetic data to build models that predict disease risk and treatment effectiveness. For example, AI can analyze which treatments patients with specific genetic mutations are most likely to respond to, improving the accuracy of personalized medicine.
Genetic technology is also being used in the field of regenerative medicine. In particular, treatment using iPS cells (induced pluripotent stem cells) is attracting attention as a technology that creates cells that are optimal for each patient based on genetic information.
a. Organ regeneration using iPS cells
iPS cells can be genetically modified to transform skin or blood cells into various types of cells, which is expected to lead to advances in medicine such as the following:
Pancreatic islet transplantation for diabetic patients : Creating pancreatic islet cells from iPS cells and restoring the ability to secrete insulin
Heart failure treatment : Using iPS cells to create cardiomyocytes and restore heart function
b. Regenerative medicine combined with gene therapy
Using gene editing technology to correct genetic mutations in iPS cells will enable safer transplantation therapy, potentially making it applicable to patients with genetic diseases.
4. Genetic information and anti-aging medicine
Anti-aging research using genetic information is also progressing. Because aging is caused by genetic damage and a decline in cellular function, genetic countermeasures are attracting attention.
a. Telomere lengthening
Telomeres (the ends of chromosomes) shorten with each cell division and are considered an indicator of aging. Attempts are being made to extend cell lifespan and delay aging by preventing telomere shortening.
b. Gene repair and sirtuin genes
The sirtuin gene is thought to enhance cell repair functions and contribute to longevity. Research is underway into using substances that activate this gene (such as resveratrol), expanding the possibilities for anti-aging medicine.
5. Personalized fitness using genetic information
Individually optimized training that utilizes genetic information is also attracting attention. Because muscle types and metabolic rates differ depending on genes, it will be possible to propose training methods that are suited to each individual’s characteristics.
a. Genetic-based training plans
For example, the type of ACTN3 gene can reveal the following aptitudes:
Fast-twitch muscle type (RR type) : Short-distance running and power training are effective
Slow-twitch muscle type (XX type) : Training that emphasizes endurance is suitable
By utilizing this information, it will be possible to provide optimal exercise programs not only to athletes but also to the general public.
6. Interaction between genetic information and environmental factors
Genes are one factor that determines disease risk, but interactions with environmental factors (diet, exercise, stress, etc.) are also important.
a. The importance of epigenetics
Epigenetics is a mechanism that controls gene expression without changing the base sequence of DNA. For example, it is known that the activity of certain genes can be suppressed or activated by the influence of stress or diet.
b. Relationship between lifestyle habits and gene expression
Research has shown that improving your diet and exercise habits can reduce your risk of lifestyle-related diseases. In particular, the following behaviors are known to affect epigenetics:
Aerobic exercise (improves metabolism through epigenetic changes)
This means that health risks can be reduced not only by genetic influences but also by lifestyle changes.
Medical treatments that utilize genetic information are being applied to a variety of fields, including personalized medicine, regenerative medicine, preventive medicine, anti-aging, and sports science. Future research and technological advances are expected to open up even more possibilities.
Summary
Disease prevention and countermeasures using genetic information are rapidly progressing in many fields, including personalized medicine, lifestyle improvement, regenerative medicine, vaccine development, etc. Genetic analysis allows us to identify disease risks in advance and take appropriate preventive measures, which is expected to extend healthy lifespans.
At the same time, ethical and data protection issues must be addressed carefully. It is important to use genetic information safely and effectively through future technological innovation and international cooperation to realize better medical care in the future.
