Recent advances in genetic analysis technology have made it possible to understand individual genetic risks and prevent disease based on that information. Conventional health management and preventive medicine have been based on statistical data and general indicators of lifestyle habits, but by utilizing genetic information, it is now possible to implement preventive measures that are optimized for each individual.
In this article, we will explore the possibilities and challenges of disease prevention using genetic information, introducing the latest research and examples of practical applications.
Disease prevention using genetic information is an approach that enables early intervention by analyzing an individual’s DNA to identify their risk of developing a particular disease and their predisposition in advance. For example, it is known that genetic factors are involved in many diseases, such as cardiovascular disease, diabetes, and cancer.
As research in this field progresses, there is a shift from the traditional “medical care that deals with symptoms after they appear” to “individually optimized preventive medical care.”。
Genetic testing reveals disease risk
Genetic testing can assess your risk for diseases such as:
1. Lifestyle-related diseases
① Diabetes Both environmental and genetic factors are involved in the development of diabetes. Mutations in the TCF7L2 gene , in particular , are known to increase the risk of type 2 diabetes. By utilizing genetic testing, people at high risk can become aware of dietary management and exercise from an early stage.
② High Blood Pressure : Research has shown that certain mutations in the ACE gene increase the risk of developing high blood pressure. People who are genetically predisposed to high blood pressure can reduce their future risk by taking preventative measures such as limiting their salt intake.
③ Heart disease: A specific variant of the APOE gene (E4 type) is known to be associated with the risk of heart disease . People with this variant are at higher risk of arteriosclerosis and myocardial infarction, so it is recommended that they start paying attention to cholesterol management from an early stage.
Many cancers develop as a result of a combination of acquired factors (smoking, diet, environment, etc.) and genetic factors. The following genes in particular are associated with cancer risk.
BRCA1/BRCA2 genes : Increases the risk of breast and ovarian cancer. Made widely known by Angelina Jolie’s decision to have a preventative mastectomy.
TP53 gene : Associated with the risk of developing various cancers.
MLH1/MSH2 gene : Involved in hereditary colorectal cancer (Lynch syndrome).
If genetic testing reveals that you have one of these mutations, options for reducing your risk, such as regular screening and preventative surgery, can be explored.
3. Neurological disorders
① It has been reported that people with the E4 type of the APOE gene are at a higher risk of developing Alzheimer’s disease. Understanding your genetic risk can help you adopt lifestyle habits to prevent dementia early on.
② Parkinson’s disease Mutations in the LRRK2 gene are known to increase the risk of developing Parkinson’s disease. People at high risk can expect preventative effects by incorporating a diet rich in antioxidants and moderate exercise.
By utilizing the results of genetic testing, we are moving away from the traditional “one-size-fits-all” medical treatment to “individually optimized medical treatment.”
1. Drug selection using genetic information
Differences in drug-metabolizing enzymes (CYP genes) can affect the effectiveness of drugs and the likelihood of side effects. For example, it is known that differences in the CYP2D6 gene can cause individual differences in the effectiveness of some antidepressants and painkillers.
This information can be used to determine the optimal type and dosage of medication for each patient, improving the safety and effectiveness of medical care.
2. Gene-based nutrition management
Genetic testing can help determine an individual’s ability to metabolize nutrients and provide appropriate dietary advice. For example, people with a mutation in the MTHFR gene are more likely to have reduced folate metabolism, making folate supplementation during pregnancy even more important.
Also, if you have a mutation in the LCT gene , you are more likely to be lactose intolerant and will need to adjust your dairy intake.
Challenges in disease prevention using genetic information
While disease prevention using genetic information holds great potential, several challenges have also been identified.
1. Protecting the privacy of genetic information
Genetic information is extremely personal data, and there is a risk of information leakage if it is not managed properly. There is a need to establish a system to properly manage genetic information and ensure that it is not used without the consent of the individual.
2. Ethical issues surrounding genetic testing
Some people experience psychological stress as a result of genetic testing. Also, because knowledge of genetic risk can affect insurance and employment, measures to prevent genetic discrimination are necessary.
3. Balance with environmental factors
While genes influence the risk of developing a disease, lifestyle and environmental factors also play a major role. Rather than becoming overly anxious about your genetic risk, it is important to practice appropriate lifestyle practices.
It is expected that future advances in genetic research will enable more precise disease prevention.
The latest technology in preventive medicine using genetic information
Preventive medicine based on genetic information has made great strides in recent years thanks to advances in technology. By combining it with AI and big data analysis, more accurate risk assessments are becoming possible. Here, we take a closer look at the latest technologies that utilize genetic information.
1. AI-based genetic data analysis
AI (artificial intelligence) is helping to analyze massive amounts of genetic data and identify disease risks. In particular, genetic diagnostic technology using machine learning algorithms has the following advantages:
High-precision prediction of disease risk : More precise predictions than conventional statistical approaches are possible
Integrated analysis of multiple genetic information : Comprehensive evaluation of multifactorial diseases such as cancer and heart disease
Proposing individually optimized treatment plans : Providing medical plans based on the patient’s genotype
For example, DeepMind, Google’s healthcare division, is developing technology that uses AI to diagnose breast cancer early, enabling more accurate diagnoses than traditional mammography (source: Nature ).
Additionally, an increasing number of companies are offering AI platforms that analyze genetic information, and services that allow individuals to easily take genetic tests at home and have AI perform risk assessments are becoming more widespread.
2. The potential of gene editing technology (CRISPR)
Gene editing technologies such as CRISPR-Cas9 are opening up new possibilities for disease prevention and treatment.
Prevention of genetic diseases : Correcting specific gene mutations and preventing the onset of diseases
Cancer treatment : Gene editing to suppress cancer cell growth
Strengthening the immune system : Genetically improving resistance to viral infections
Treatments using CRISPR technology are currently in clinical trials and show particular promise in treating genetic diseases (e.g., sickle cell disease and muscular dystrophy) (Source: Science ).
However, ethical issues and safety assurances are important topics of discussion.
Health management using genetic information is being put into practical use in the following fields:
1. Gene-based diet plan
A low-fat diet may be suitable for people who are genetically slow to metabolize fat, while people who are poor at metabolizing carbohydrates can prevent obesity by being conscious of carbohydrate restriction.
For example, people with certain mutations in the FTO gene are prone to overeating and may benefit from certain dietary restrictions.
② Genes and fitness
The ACTN3 gene is a gene that affects athletic ability . Depending on the type of this gene, a person is better suited to endurance sports (marathons, cycling) or explosive sports (sprints, weightlifting).
Creating a training program based on your genes can help you establish more efficient exercise habits.。
3. Genetic testing to improve sleep quality
The PER3 gene is known to genetically affect sleep quality, and it has been found that variations in this gene affect whether one is a morning type or a night type.
By knowing your genetic sleep tendencies, you can adjust your sleep environment and daily routine to create an optimal sleep environment and reduce the risk of sleep disorders.
There are several challenges to utilizing genetic information for health management and disease prevention.
1. Privacy and Security of Genetic Information
Genetic information is one of the most sensitive pieces of personal data, and there is a risk of information leakage if it is not managed properly.
Data anonymization : Separating personal and genetic information protects privacy
Establishing appropriate guidelines : International regulations on the handling of genetic information are needed
Many countries are currently working on establishing laws to prevent the misuse of genetic information (reference: WHO ).
2. Difficulty in interpreting genetic information
Genetic information does not simply indicate whether or not a person has a disease, but is closely related to environmental factors and lifestyle habits. Even if a person has a high genetic risk of a disease, it is possible to prevent the onset of the disease by taking appropriate preventative measures.
Expert advice is essential to correctly interpret and appropriately utilize genetic information。
3. Ethical Issues in Genetic Testing
There are also concerns that genetic information may be used as a basis for workplace and insurance application decisions. For example, people who are genetically at high risk may be disadvantaged in terms of employment or promotion, so there are calls for legislation to prevent genetic discrimination.
In particular, the United States has enacted the Genetic Information Nondiscrimination Act (GINA), which prohibits the unfair use of genetic information in the fields of employment and insurance.
Medical care utilizing genetic information will continue to develop in the future, and the following future is expected.
Individually optimized health checkups : A custom-made health checkup program based on genetic risk
Real-time health monitoring using AI : Automatically suggesting preventive measures by combining genetic information and health data
Treating congenital diseases with gene editing : Establishing technology to modify genetic disease risk before birth
By utilizing genetic information, it is expected that there will be a shift from “medical care that treats illness after it has occurred” to “medical care that prevents illness before it occurs.”
Future healthcare prospects utilizing genetic information
Disease prevention technology based on genetic information will continue to evolve in the future, potentially dramatically changing the way we manage our health. Through integration with AI, big data, and wearable devices, we are entering an era in which personalized, optimized health guidance will be provided in real time. This article provides a detailed look at the future of healthcare using genetic information.
1. Real-time health management using AI and genetic information
In recent years, advances in AI technology have made it possible to combine genetic information with real-time health data to provide more advanced preventive medicine. For example, by integrating genetic data with smartwatches and health management apps, the following services could be offered:
Personalized diet and exercise advice : AI analyzes your genetic information and current health status to suggest optimal diet plans and exercise menus.
Real-time detection of disease signs : By comparing data such as heart rate, blood sugar levels, and sleep patterns with genetic information, early warning of disease risk is provided.
Personalized supplements : Analyze nutrients that tend to be lacking in real time and automatically deliver optimal supplements
Verily, a company run by Alphabet, the parent company of Google, and Apple’s healthcare division are already developing technology to integrate genetic information with wearable devices, and it is believed that more advanced health monitoring will become a reality in the near future (Reference: Verily official website ).
Conventional medical care is based on “standard treatment,” but by utilizing genetic information, it becomes possible to provide “customized medical care (precision medicine)” that selects the optimal treatment for each patient.
① Genotype-specific anti-cancer drug treatment
In cancer treatment, the effectiveness of treatment varies greatly depending on the genotype of each individual patient. For example, it is known that certain molecular targeted drugs are effective for lung cancer patients with EGFR gene mutations .
In addition, anti-cancer drugs that target HER2 are effective for breast cancer patients with HER2 gene mutations . In this way, by utilizing genetic information, more effective treatments can be selected and side effects can be minimized.
Approaches that utilize genetic information are also advancing in the treatment of depression and anxiety disorders. It is known that differences in the CYP2D6 gene affect the rate at which antidepressants are metabolized, which affects how well they respond and the risk of side effects.
Genetic testing is expected to enable the selection of the most appropriate medication for each patient, leading to safer and more effective treatment (Reference: American Psychiatric Association ).
3. Next-generation health checkups using genetic information
It is believed that “next-generation health checkups” based on genetic information will become widespread in the future.
1. Whole genome analysis as preventive medicine
Some medical institutions are now introducing health checkups that utilize whole genome analysis, which can provide a more detailed understanding of disease risks, such as:
Cancer (breast cancer, colon cancer, prostate cancer, etc.)
Lifestyle-related diseases (diabetes, high blood pressure, dyslipidemia, etc.)
In particular, if a BRCA1/BRCA2 gene mutation is confirmed, the risk of developing the disease can be significantly reduced by considering regular testing and preventive measures (e.g., prophylactic mastectomy).
② Combination with the microbiome (intestinal bacteria)
Recent research has shown that the interaction between intestinal bacteria (microbiome) and genes has a significant impact on health. By comprehensively analyzing genetic information and intestinal flora, it becomes possible to provide optimal health management methods for each individual.
4. The future of genetic testing and social issues
As disease prevention using genetic information progresses, several social issues are also emerging.
① The problem of genetic discrimination
Genetic testing can reveal disease risks, raising concerns about the risk of discrimination in employment and insurance coverage. The United States has enacted the Genetic Information Nondiscrimination Act (GINA), which prohibits discrimination in employment and insurance coverage based on genetic information, but many countries around the world currently lack sufficient legal systems.
② Handling of genetic information and privacy protection
Genetic information is highly confidential data, and if not managed properly, there is a risk that it could be misused. For example, if genetic data were to be leaked to a company, it could lead to marketing and targeting based on genetic characteristics.
For this reason, there is a need to establish a robust data protection system so that individuals can undergo genetic testing with peace of mind.
The evolution of disease prevention using genetic information and the path to practical application
Disease prevention using genetic information has moved beyond the research stage and is now entering a phase where it can be incorporated into actual medical treatment and health management. Let’s take a closer look at how genetic information is being incorporated into our lives as technology advances, and how it can contribute to maintaining and improving our health.
1. Genetic testing and lifestyle optimization
By utilizing genetic information, it becomes possible to design a lifestyle that is tailored to each individual’s constitution. This is already being used in the following fields:
① Gene-based personalized nutrition
“Personalized nutrition” proposes optimal meal plans based on genetic data.
People with slow lipid metabolism (with APOA5 gene mutation) → A low-fat diet is recommended
People with slow caffeine metabolism (CYP1A2 gene mutations) → Reducing coffee intake reduces the risk of heart disease
People who have difficulty metabolizing carbohydrates (FTO gene mutations) → A carbohydrate-restricted diet is effective
In this way, knowing your genotype makes it possible to manage your diet more effectively.
2. Next-generation healthcare services using genetic information
Genetic information-based healthcare services are currently expanding rapidly.
① Personalized health programs using genetic analysis
For example, there are increasing cases of genetic testing companies partnering with medical institutions to offer “health checkup programs based on genetic information.”
Identify risk factors and recommend regular checkups
Health guidance based on genetic predisposition (improvement of diet, exercise, and lifestyle habits)
Individualized provision of necessary supplements and preventative measures
This is leading to a shift from the traditional “uniform health checkups” to “health checkups that are individually optimized.”
Smartphone apps that combine AI and genetic data have appeared and are being used as useful tools for daily health management.
AI integrates genetic information and daily health data to provide health advice
Proposals for improving exercise, diet, and sleep based on genetic risk
Real-time monitoring of changes in health status and alerts if there are any abnormalities
Integrated services combining genetic testing, AI, and wearable devices are already being offered overseas and are beginning to be used for daily health management.
Utilizing genetic information not only at the individual level, but also at the public health level, has the potential to contribute to improving the quality of life.
① Utilizing genetic information to combat infectious diseases
It has become clear that genetic factors are involved in the risk of infection and the risk of developing severe symptoms of COVID-19. For example, research has shown that people with mutations in the ACE2 gene and TMPRSS2 gene have different susceptibility to the virus (Reference: Nature ).
Utilizing this information will enable individualized risk assessment and the development of effective vaccine strategies.
② Regional health strategies using genetic information
Efforts are also underway to analyze the genetic predispositions of each region and implement preventive measures against lifestyle-related diseases. For example, in certain areas of Japan, there is a high genetic risk of high blood pressure, so salt reduction measures are being actively promoted.
4. Ethical and social issues in utilizing genetic information
Careful consideration is required when using genetic information.
① Risk of genetic discrimination
Genetic testing can reveal disease risks, which can affect insurance enrollment restrictions and employment. The Genetic Information Nondiscrimination Act (GINA) has already been enacted in the United States, prohibiting discrimination based on genetic information, but Japan has yet to fully establish such legislation.
② Security of genetic data
Because genetic information is highly confidential, unauthorized access and leaks of personal information can pose serious problems, and countries around the world are calling for stronger data protection measures.
Disease prevention using genetic information is an important technology for realizing individually optimized medical care and health management. It is being applied in a wide range of fields, including diet, exercise, drug selection, and risk assessment for cancer and lifestyle-related diseases.
At the same time, protecting the privacy of genetic data and addressing ethical issues are also essential. Advances in integration with AI and wearable devices are expected to lead to more advanced preventive medicine in the future。