In recent years, advances in genetic testing have made it possible to identify the risk of lifestyle-related diseases in advance by knowing an individual’s genetic characteristics, and to develop effective preventive measures. This article provides a detailed explanation of how genetic testing works and how it can be used to prevent lifestyle-related diseases.
1. What is genetic testing?
1-1. Relationship between genes and diseases
Genes contain important information that is responsible for the blueprint of our bodies. Research has shown that some gene mutations and polymorphisms (single nucleotide polymorphisms: SNPs) increase the risk of developing certain diseases.
For example, lifestyle-related diseases such as diabetes, hypertension, dyslipidemia, and obesity are influenced by both genetic and environmental factors. Genetic testing can be used to assess an individual’s risk for these diseases.
1-2. Types of genetic testing
There are several types of genetic tests, but the following are tests aimed at preventing lifestyle-related diseases:
SNP testing (polymorphism analysis): Examining single nucleotide polymorphisms to assess the risk of certain diseases
Epigenetics testing: Examining DNA methylation status and analyzing changes in gene expression
Whole genome analysis: Deciphering the entire genetic information to comprehensively understand disease risk and predisposition
These tests allow you to learn about your genetic predisposition and take appropriate preventative measures.
2. Risk of lifestyle-related diseases identified through genetic testing
Genetic testing can identify risks for the following lifestyle-related diseases:
2-1. Risk of diabetes
Type 2 diabetes is a disease that involves a complex mix of genetic factors and lifestyle habits.
Genetic testing analyzes SNPs related to genes such as TCF7L2 to assess the risk of diabetes. Research has shown that people with mutations in the TCF7L2 gene have a 1.4-fold increased risk of developing diabetes (Reference: PMID: 17463246 ).
Precautions:
Avoid high carbohydrate and high GI foods
Adopt a regular exercise habit
Regular monitoring of blood glucose levels
2-2. Risk of high blood pressure
Hypertension is a disease that is greatly influenced by genetic factors and salt intake. It has been reported that polymorphisms in the AGT (angiotensinogen) gene are associated with the risk of developing hypertension (Reference: PMID: 19091278 ).
Precautions:
Limit salt intake to less than 6g per day
Eat potassium-rich vegetables and fruits
Make aerobic exercise (walking or jogging) a habit
2-3. Risk of dyslipidemia
A specific variant of the APOE gene (E4 type) has been associated with increased LDL (bad cholesterol) and has been suggested to increase the risk of cardiovascular disease (Reference: PMID: 25324552 ).
Precautions:
Reduce intake of saturated fatty acids and eat foods rich in unsaturated fatty acids (oil-filled fish, nuts, etc.)
Get regular cholesterol tests
Increase HDL (good cholesterol) with moderate exercise
2-4. Risk of obesity
One of the genes involved in obesity is the FTO gene . It has been shown that people with certain mutations in this gene are more likely to have a high BMI (Reference: PMID: 17658951 ).
Precautions:
Manage your calorie intake properly
Combine strength training with cardio
If you are genetically bad at metabolizing carbohydrates, consider limiting your carbohydrate intake.
To make the most of your genetic test results, it is a good idea to keep the following points in mind:
3-1. Individual optimization based on genetic information
The results of a genetic test only indicate your “risk” and do not confirm whether or not you will develop the disease. Therefore, it is important to make appropriate lifestyle adjustments based on your genetic risk .
3-2. Use in conjunction with regular health checkups
Combining genetic testing with blood tests and health checkups will enable more accurate assessment of health risks.
3-3. Use of genetic counseling
By receiving expert advice, you can review your lifestyle habits and develop specific preventive measures.
4. Specific examples of genetic testing
4-1. Examples of lifestyle improvements in people who underwent genetic testing
Case 1: Mr. A (male, 40s) diagnosed with high risk of diabetes
Mr. A had many family members with diabetes, so he underwent genetic testing to understand his own risk. As a result, he was found to have a mutation in the TCF7L2 gene, which puts him at high risk of developing diabetes .
Lifestyle improvements implemented:
Include foods high in dietary fiber (oatmeal, brown rice) for breakfast to prevent a sudden rise in blood sugar levels.
Improve your insulin sensitivity by making 30 minutes of walking a day a habit
Reduce snacking and choose foods with a low GI
As a result, my blood sugar levels stabilized three months later, and I was able to maintain normal levels during health checkups.
Case 2: Ms. B (female, in her 50s) at risk of hypertension
A genetic test revealed that Mr. B has a specific mutation in the AGT gene , which may increase his risk of hypertension, so he decided to take early action.
Lifestyle improvements implemented:
Limit salt intake to 6g or less per day
Eat foods high in potassium (bananas, spinach)
Incorporate yoga and deep breathing into your daily routine to reduce stress
As a result, my blood pressure has stabilized and I am living a healthier lifestyle than before.
5. The Potential for Personalized Medicine through Genetic Testing
5-1. Genetic testing and personalized medicine
In recent years, medicine has evolved from “one-size-fits-all treatment” to “personalized medicine.” Genetic testing plays an important role in this trend.
For example, we now know that the same disease can be treated differently depending on genetic factors : one person may be able to manage their risk simply by modifying their lifestyle, while another may require drug therapy.
Benefits of personalized medicine:
Efficient implementation of preventive measures : Necessary measures can be prioritized
Selection of appropriate treatment : Treatment can be performed taking into account the effectiveness of medication and the risk of side effects.
Reduce medical costs : Avoid unnecessary treatment and receive appropriate medical care
5-2. Health management apps using genetic information
Recently, apps have been introduced that allow users to manage genetic test results on their smartphones and use them in their daily lives.
Key features:
Diet and exercise advice based on genetic risk
Records health data in real time and suggests areas for improvement
Remote medical care service that allows collaboration with doctors
These technological advances have ushered in an era in which genetic information can be utilized more easily .
6. Precautions when undergoing genetic testing
6-1. Privacy management of genetic information
Because genetic testing involves very personal information, privacy management is important. Before taking the test, be sure to check the provider’s data management policy and how they handle your information .
Tips for choosing a safe testing service:
Do you have a clear policy on handling personal information?
Will data be provided to third parties?
Is it approved by the Ministry of Health, Labor and Welfare or related organizations?
6-2. Genetic risk is not certain
Genetic testing indicates “risk,” but is not a “definitive diagnosis.” For example, even if the test shows that you are at high risk for diabetes, it does not necessarily mean that you will develop the disease.
What’s important is to take appropriate measures based on genetic information . Rather than becoming anxious just because you’re at high risk, you should practice health management that suits you .
As genetic testing technology improves, so does research into gene editing techniques (such as CRISPR). In the future, it may be possible to treat certain genetic risk individuals with a disease by correcting their genes before they develop the disease .
7-2. Reducing the cost and popularizing genetic testing
Genetic testing, which was previously expensive, can now be performed at low cost thanks to technological advances . Testing can be done easily for just a few tens of thousands of yen, and the results can be checked on a smartphone, so it is expected to become even more widespread in the future.
Future Outlook:
Enabling more detailed genetic analysis
Combining general health checkups with genetic testing has become commonplace
AI-based personalized medicine
8. Social impacts and ethical issues of genetic testing
The widespread use of genetic testing is dramatically changing the way individual health management and medical care are carried out. However, at the same time, social impacts and ethical issues have also emerged. Here, we consider the problems that come with the widespread use of genetic testing and how to deal with them.
8-1. Discrimination and privacy issues regarding genetic information
It has been pointed out that the results of genetic testing may lead to discrimination when applying for employment or insurance. For example, if it is determined that you have a genetic predisposition to a certain disease, there is a risk that you may be restricted from applying for life insurance or be treated less favorably when hiring.
To prevent this problem, some countries have enacted “Genetic Information Discrimination Prohibition Acts” that prohibit discrimination on the basis of genetic information. Japan has also established guidelines for the handling of genetic information from the perspective of protecting personal information. However, as legal provisions are still insufficient, further discussion is required in the future.
8-2. Risk of misuse of genetic information
If genetic test data were to be leaked to a third party, it could be used for criminal purposes, such as for targeted marketing to individuals with certain genetic characteristics or for fraudulent activities based on genetic information.
As a countermeasure,
Check the security policies of companies that provide genetic testing
Investigate in advance whether personal information is being managed appropriately
Choose a service that allows you to delete data if you don’t need it
It is important to respond in this way.
8-3. Psychological effects of genetic information
The results of a genetic test can increase anxiety about your health. For example, if you are diagnosed with a high probability of developing cancer in the future, this can become a source of strong stress and even damage your health.
9. The relationship between genetic testing and nutrition
In recent years, “Nutrigenomics,” which utilizes genetic testing, has been attracting attention. This is a new approach to finding the optimal nutritional balance for each individual’s constitution based on genetic information.
9-1. Nutritional suitability determined by genetic testing
Our genes affect how our bodies absorb and metabolize nutrients. For example,
Caffeine metabolism gene (CYP1A2) : Determines how easily you break down caffeine
Lactose intolerance gene (LCT) : Determines whether you can digest dairy products
Vitamin D metabolism gene (GC) : Determines the efficiency of vitamin D utilization in the body
By utilizing this information, you will be able to scientifically choose the diet that is right for you.
9-2. Examples of gene-based dietary advice
Example 1: People who are sensitive to caffeine
People with certain mutations in the CYP1A2 gene tend to have palpitations and insomnia when they drink coffee because they break down caffeine at a slower rate . Therefore, limiting caffeine intake or choosing decaffeinated beverages can reduce the health risk.
Example 2: People prone to vitamin D deficiency
It is known that people who cannot efficiently utilize vitamin D due to a mutation in the GC gene are prone to reduced bone density. Therefore, it is recommended that you actively get sunlight and consume foods that contain vitamin D (salmon, mushrooms) .
10. Future health management through widespread use of genetic testing
10-1. Popularization of individually optimized health programs
With the development of genetic testing, it is expected that “individually optimized health programs” will become widespread in the future. Even now, some sports gyms and clinics are offering services that provide training and nutritional advice based on genetic information .
In the future, it is expected that by utilizing even more precise data, it will be possible to provide health management that is customized for each individual .
10-2. Integration with gene editing technology
In the future, it may become possible to prevent disease not only through genetic testing, but also through “gene editing.” For example, CRISPR technology may be used to develop treatments that modify genes that are at risk for certain diseases .
However, gene editing entails ethical issues and requires careful discussion.
11. How genetic testing will be utilized in the future
Finally, we will summarize how genetic testing will be utilized in the future.
11-1. Useful for health management
It is important that genetic testing is used not simply to assess risk, but to help with specific health management .
For example,
If you have a high genetic risk, get regular health checks
Tailor your diet and exercise to your genetic makeup
Consult a doctor or specialist if necessary
It is ideal to use it like this.
11-2. Choose information based on scientific evidence
There is a lot of information available about genetic testing, but some of it lacks scientific evidence. It is important to acquire correct knowledge by referring to reliable research data and expert opinions.
11-3. Exploring the possibilities of future medical care
With the evolution of genetic testing, in the future we may see the emergence of technology that can support not only disease “prevention,” but also “treatment” and “optimal health management.” Let’s keep an eye on future research developments and make use of the latest information.
12. The relationship between genetic testing and sports performance
Genetic testing is used not only to prevent lifestyle-related diseases, but also in the fields of sports and fitness. Because muscle types and endurance tendencies vary genetically, genetic testing can provide clues for athletes and general training enthusiasts to find the optimal training method.
12-1. Relationship between muscle type and genes
There are two main types of muscle fibers.
Fast-twitch muscle fibers (Type II) : Great for explosive movements of short duration (e.g. sprinting, weightlifting)
Slow-twitch muscle fibers (Type I) : Excellent endurance and suitable for long-term exercise (e.g. marathons, cycling)
Genetic testing can determine which muscle type is dominant by examining mutations in the ACTN3 gene.
RR type (fast-twitch dominant) : Suitable for sprinting and power sports
RX type (balanced type) : Has both speed and endurance
XX type (slow-twitch predominant) : Suitable for long-distance running and endurance sports
12-2. Gene-based training strategies
Knowing your genetic muscle type can help you choose the best training method for you.
Fast-twitch muscle dominant (RR type): Focus on short, high-intensity exercise, such as sprints and weight training
People with slow-twitch muscle fibers (XX type): Emphasis on aerobic exercise and long-term low-intensity training
Balanced type (RX type): Combine strength and endurance training
Not only athletes, but also the general public can use genetic testing to find the exercise style that suits them best.
13. The relationship between genetic testing and mental health
Genes have a major impact not only on your physical health but also on your mental health.
13-1. Serotonin gene and stress resistance
The 5-HTTLPR gene is involved in the secretion of serotonin (the happiness hormone) and affects stress resistance. There are three types of this gene:
LL type (high stress resistance) : Resistant to stress and prone to positive thinking
SL type (moderate stress tolerance) : Easily susceptible to stress, but able to adapt
SS type (low stress tolerance) : Easily sensitive to stress and prone to anxiety and depression
Based on the results, you can choose the appropriate stress management method.
LL type people : They can easily adapt to challenging environments
SS type : Meditation, mindfulness, cognitive behavioral therapy (CBT), etc.
13-2. Dopamine genes and motivation
The DRD4 gene is involved in the secretion of dopamine and influences motivation and adventurousness. If there is a specific mutation in this gene, people are more likely to seek new stimuli and take risks.
Risk takers : They like new challenges but tend to be impulsive.
Cautious type : Prefers stability and tends to act in a planned manner.
You can use this information to adjust your work style and lifestyle.
14. The relationship between genetic testing and sleep
Genes also influence the quality and rhythm of your sleep.
14-1. Sleep types and genes
The PER3 gene regulates the body clock and is one of the factors that determine whether you are a “morning type” or a “night type.”
Long type (morning type) : Good at going to bed early and getting up early, and has better concentration in the morning
Short type (night owl) : Tends to be active at night and stay up late
14-2. Genetic-based methods for improving sleep
By learning your sleep type through genetic testing, you can adjust your daily rhythm.
Morning people : Work or study early in the morning and relax in the evening
Night owls : Start the day with light work or exercise, then do activities that help you concentrate in the evening.
Additionally, the ADORA2A gene is one of the genes that determines how susceptible you are to caffeine, so if you have certain mutations in this gene, caffeine can make it harder for you to fall asleep, so avoid your afternoon coffee.
15. The future of genetic testing and technological innovation
Genetic testing technology is evolving rapidly and is expected to be applied to even more fields in the future.
15-1. Combination of AI and genetic analysis
Advances in artificial intelligence (AI) have led to the emergence of systems that can analyze genetic information more precisely and suggest optimal health management for each individual.
AI combines genetic and lifestyle data to suggest optimal diet and exercise
The possibility of developing supplements and medicines customized for each individual
15-2. Reducing the cost of genetic testing
Genetic analysis, which once cost hundreds of thousands of yen, can now be performed for a few thousand to a few tens of thousands of yen. In the future, costs will likely fall even further, and we will soon see an era in which anyone can easily undergo genetic testing .
15-3. Advances in research into genes and epigenetics
As research into epigenetics progresses, it has become clear that diseases do not develop because of a genetic risk, but rather that gene expression changes depending on the environment and lifestyle.
In other words, regardless of the results of your genetic test, you can reduce your risk of disease and live a healthier life by improving your lifestyle .
16. Genetic testing and anti-aging
Genetic testing can also help predict age-related changes in the body and develop specific measures to slow down the aging process. In recent years, beauty and health management based on genetic information has been attracting attention as “personalized anti-aging.”
16-1. Genes involved in aging
Many different genes are involved in aging, but three are particularly important:
FOXO3 gene : Known as the longevity gene, it is involved in antioxidant activity and cell repair ability.
SIRT1 gene : A type of sirtuin gene that suppresses cellular aging and promotes longevity
MTHFR gene : Involved in folic acid metabolism and affects the risk of arteriosclerosis and dementia
16-2. Gene-based anti-aging measures
Based on the results of your genetic testing, you can take measures to slow down the aging process.
People who are prone to FOXO3 gene activation → Actively consume omega-3 fatty acids and antioxidant foods (berries, green tea)
People with low expression of the SIRT1 gene → restrict calories and eat foods containing polyphenols (red wine, dark chocolate)
People with MTHFR gene mutations : Eat foods rich in folic acid and B vitamins (spinach, liver) to maintain healthy blood vessels.
Taking these steps can help reduce your genetic risks and age healthily.
17-1. Limitations of genetic testing for the general public
Currently, commercially available genetic testing kits can easily identify health risks and physical predispositions, but their accuracy is limited.
Conventional genetic tests only analyze specific SNPs (single nucleotide polymorphisms), and therefore cannot fully predict the risk of complex diseases.
Environmental factors and lifestyle habits have a significant impact on the onset of disease, so genetic information alone cannot provide a complete diagnosis.
Therefore, it is important not to place too much faith in the results of genetic tests, but to manage your health while taking the advice of doctors and other experts into consideration.
17-2. Choose a reliable testing agency
As demand for genetic testing grows, many different companies are offering testing services, but not all of them can be trusted.
How to choose a reliable testing laboratory:
Is the analysis based on scientific evidence?
Is the privacy of genetic information being protected thoroughly?
Is it approved by the Ministry of Health, Labor and Welfare or related organizations?
It is important to check these points when choosing the right service.
Summary
Genetic testing reveals an individual’s genetic characteristics and is used in a wide range of fields, including the prevention of lifestyle-related diseases, health management, sports, mental health, and anti-aging. Knowing your own constitution and risks allows you to make more effective lifestyle improvements. However, genetic information only indicates “tendencies,” and environmental factors and lifestyle habits are also important. It is important not to place too much trust in the test results, but to take the advice of doctors and experts into consideration when managing your health appropriately.
