Genetic testing is a method of predicting certain diseases and health risks by analyzing an individual’s DNA. In recent years, advances in technology have made genetic testing more accessible to the general public. This article explains in detail the main health risks identified through genetic testing and how to deal with them.
Lifestyle-related diseases influenced by genetic factors include diabetes, high blood pressure, and dyslipidemia (hypercholesterolemia). Diabetes is associated with specific gene mutations, and people at high genetic risk can reduce their risk of developing the disease by paying attention to their diet and exercise habits. High blood pressure is also associated with genetic factors, and is known to be influenced by gene mutations related to the constriction and dilation of blood vessels.
2. Cancer risk
Genetic testing can tell you your risk of developing certain cancers. Mutations in the BRCA1 and BRCA2 genes are known to be risk factors for breast cancer and ovarian cancer. Specific gene mutations (MLH1, MSH2, etc.) are also involved in colorectal cancer, so you should be especially careful if you have a family history of the disease.
3. Risk of cardiovascular disease
Genetic factors also play a major role in cardiovascular diseases such as myocardial infarction and stroke. For example, research has shown that genetic mutations in the 9p21 region increase the risk of myocardial infarction. When combined with high blood pressure and high cholesterol, the risk increases even further, so early lifestyle changes are important.
4. Risk of neurological disorders
Neurological diseases such as Alzheimer’s disease and Parkinson’s disease are also associated with genetic factors. It is known that the ε4 mutation in the APOE gene increases the risk of Alzheimer’s disease . Brain training and improving diet are recommended as early preventative measures.
Even if genetic testing indicates a high risk, lifestyle changes can help prevent the disease from developing.
Improve your diet : If you are at high risk for diabetes or cardiovascular disease, limit your intake of sugars and saturated fats and increase your intake of vegetables and fish.
Exercise regularly : At least 150 minutes of aerobic exercise per week can help reduce your risk.
Stress management: Chronic stress can amplify genetic risk, so finding the right stress management methods is important.
2. Regular health checkups and early detection
If you are diagnosed with a high risk of a disease, it is recommended that you undergo regular health checkups and specialist examinations. For example, if you are at high risk of cancer, in addition to general checkups, MRIs and genetic counseling may also be effective.
3. Consult with an expert
It is important to consult with a specialist about how to interpret the results of your genetic test and what measures you should take.
Genetic counselor : Provides support to help you correctly understand your genetic information and consider appropriate measures.
Doctors and specialists : You can consult with them about early detection and treatment strategies for high-risk diseases
Genetic testing is merely a “risk assessment” and does not confirm the onset of the disease.
Environmental factors and lifestyle habits also have a large impact, so it is important to take comprehensive health management measures without getting too excited or upset about the test results.
Receiving your results and taking appropriate action is key to staying healthy.
Types of genetic testing and how to use them
There are various types of genetic tests, and it is important to choose the appropriate test depending on your purpose. Here we will explain the main types of genetic tests and how to use them.
1. Disease risk prediction genetic testing
This type of genetic testing identifies your risk of developing a disease in the future. If you have a specific gene mutation, you may be at higher risk for that disease than the general population.
[How to use]
If you are determined to be at high risk, lifestyle changes will be made to reduce the risk.
Undergo regular health checkups to aim for early detection and treatment.
Since there is a possibility that the same genetic mutation may exist in family members, share information with relatives and consider preventive measures.
2. Drug response genetic testing (pharmacogenomics)
It is known that drug metabolism and effectiveness vary depending on an individual’s genes, and this test can predict the effectiveness of a particular drug and the likelihood of side effects.
[How to use]
Select the right medication to reduce the risk of side effects.
If existing medications are not effective, it can help you switch to more effective medications.
Talk to your doctor to develop the best treatment plan.
3. Ancestry and genetic analysis
By analyzing your genes, you can learn about your ancestral roots and physical characteristics, such as your ability to break down alcohol and how easily you build muscle.
[How to use]
Choosing the right exercise and diet for your body type can help you manage your health.
Discover your ancestral roots and understand your family history and genetic background.
Genetic testing is an extremely useful tool, but its use also comes with ethical challenges.
1. Privacy of Genetic Information
Genetic information is very important personal data and must be managed appropriately.
When undergoing genetic testing, it is important to check the data management system and how information will be handled.
Some companies may provide your genetic information to third parties, so be sure to check their privacy policies beforehand.
2. Genetic discrimination
Genetic test results may also lead to discrimination, for example, when applying for life insurance or when seeking employment because of a particular genetic mutation.
Currently, Japan does not yet have sufficient laws prohibiting discrimination based on genetic information, so we must proceed with caution.
It is advisable to treat test results as personal information and not disclose them publicly.
Points to consider when undergoing genetic testing
1. Choose a reliable testing agency
There are many companies offering genetic testing, but some of them offer tests with insufficient scientific evidence.
It is important to choose an institution approved by the Ministry of Health, Labor and Welfare or a testing company that is affiliated with a medical institution.
Check their past research history and whether doctors or genetic counselors are involved.
2. Correctly understand the test results
The results of a genetic test only indicate the probability of risk, and do not guarantee a 100% chance of developing the disease.
It is important to calmly accept the results while consulting with your doctor or genetic counselor.
Manage your health by taking into consideration not only test results but also lifestyle habits and environmental factors.
3. Share information with your family
Because genes are shared with family members, test results may also affect family members.
For example, if there is a genetic mutation that increases the risk of cancer, it is highly likely that relatives also have the same gene, so it is important to share information appropriately.
However, you need to be careful about how you communicate this so as not to create pressure among family members.
Latest research and technological trends in genetic testing
1. Evolution of Next-Generation Sequencing (NGS) Technology
improved the accuracy of genetic testing . Compared to conventional DNA sequencing technologies, NGS is unique in that it can perform large-scale genome analysis in a short period of time and at low cost. Advances in NGS have made it possible to analyze an individual’s DNA in greater detail, making it possible to identify new, previously undiscovered genetic risk factors.
[Latest research examples using NGS]
Personalized cancer medicine : Advances are being made in precision medicine, which involves analyzing the genomes of patients’ tumor cells and selecting the most appropriate treatment for each individual.
Diagnosis of rare diseases: Research is underway to identify the genetic causes of rare diseases that have traditionally been difficult to diagnose, and to connect them to appropriate treatments.
2. Disease prediction using polygenic risk scores (PRS)
A Polygenic Risk Score (PRS) is a method for quantifying disease risk based on the combination of multiple gene variants. While conventional genetic testing focuses on the association of a single gene mutation with a specific disease, a PRS is a new approach that statistically analyzes the effects of multiple genes to estimate the risk of developing a disease.
[Application areas using PRS]
Assessment of heart disease risk : Not only mutations in the 9p21 gene, but also hundreds to thousands of other gene mutations are analyzed to more accurately predict the risk of myocardial infarction.
Diabetes risk assessment : Calculate a combination of multiple genetic mutations to optimize diet and exercise guidance.
3. Gene editing technology (CRISPR-Cas9) and treatment of genetic diseases
CRISPR-Cas9 technology is a revolutionary technology that allows precise editing of specific parts of DNA. In the future, CRISPR technology may be used to treat genetic diseases identified through genetic testing.
[Applications of CRISPR technology]
Treating genetic diseases : Treatments are under development for genetic diseases such as muscular dystrophy and sickle cell disease.
Cancer treatment : Treatments are being researched that involve editing the genes of immune cells to make them more likely to attack cancer cells.
1. Personalized nutritional guidance using genetic data
” Personalized nutrition,” which provides optimal nutritional guidance for each individual based on the results of genetic testing, is gaining attention. For example, people who are genetically at high risk of lactose intolerance can reduce their health risks by limiting their intake of dairy products.
[Specific examples of nutritional management using genetic information]
Caffeine metabolism gene (CYP1A2) : The type of gene affects how caffeine affects you and determines whether you should avoid excessive intake.
Omega-3 fatty acid metabolism gene (FADS1) : People with this gene mutation will have less health benefits from consuming fish oil and will need to supplement their DHA and EPA in other ways.
2. Fitness and Genetic Testing
Athletes and the general public can now understand their genetic characteristics and choose training methods that suit them. For example, it has been discovered that genes can determine whether a person is better suited to endurance or explosive power.
[Examples of genotypes and suitable exercises]
ACTN3 gene type
R type: Suitable for short distance running and strength training.
X-type: Suitable for endurance exercise (such as marathons).
3. Sleep and genetic testing
Sleep quality is also known to be influenced by genes, with research showing that certain genetic mutations can make you more susceptible to sleep deprivation and difficulty entering deep sleep.
[Sleep-related genes and measures to improve them]
PER3 gene : Mutations in this gene determine whether you tend to be a morning or evening type.
DEC2 gene : People with a mutation in this gene are less likely to experience a decline in daytime performance even with less sleep.
The future of genetic testing and its impact on society
1. Transforming medical care through the spread of genetic testing
Currently, genetic testing is mainly provided by medical institutions and specialized companies, but in the future, it may become possible to connect with smartphones and wearable devices and utilize genetic data in real time.
[Directions for future technological development]
Combining AI and genetic analysis : Genome analysis using artificial intelligence improves the accuracy of predicting genetic risk.
Blockchain management of genetic data : Technology is being developed to utilize genetic information more safely while protecting individual privacy.
2. Genetic testing and public health
Utilizing genetic testing at the national and local government levels could lead to the prevention of lifestyle-related diseases and reduced medical costs.
[Examples of the use of genetic testing in public health]
Enhanced newborn screening : assessing genetic risk immediately after birth to enable earlier medical intervention.
Population-level disease prevention : Identifying people in a particular area who are genetically at increased risk of disease and implementing preventive measures.
3. Changes in regulations surrounding genetic testing
As genetic testing becomes more widespread, legal regulations are being established in each country.
In Japan, the Genome Medicine Promotion Act and other laws have been enacted, requiring the appropriate management and use of genetic information.
In Europe and the United States, there is the Genetic Information Nondiscrimination Act (GINA), which prevents the misuse of genetic information when applying for employment or insurance.
The cost of genetic testing has fallen significantly in recent years, making it affordable for many people. However, some tests remain expensive, and income disparities may affect the uptake of genetic testing.
[Trends in genetic testing costs]
Early 2000s : The cost of sequencing the human genome is several hundred million yen.
2010s : With the development of NGS technology, the cost fell to several hundred thousand to several million yen.
2020s : Genetic tests for individuals costing less than 10,000 yen become available, and they become more widely available.
Although genetic testing is becoming more accessible, genetic testing for advanced medical purposes remains expensive, and the scope of coverage by public health insurance will remain an issue for the future.
2. Impact on the Insurance Industry
The widespread use of genetic testing may also significantly change the way life insurance and medical insurance are structured. If a system is introduced in which premiums change based on the results of genetic testing, it may become more difficult for high-risk individuals to obtain insurance.
The impact of genetic insurance
Insurance premiums could rise for people with high genetic risk.
For those with low genetic risk, insurance premiums are cheaper.
There is a possibility of reverse discrimination against those who do not provide genetic information.
Currently, in Japan, life insurance companies almost never use genetic information as a contract condition, but this could change significantly depending on future legal and regulatory trends.
3. Genetic Information and Employment
In some countries, companies’ requests for genetic test results at the time of hiring have been criticized, as it has been pointed out that some companies may refuse to hire people who are at high risk of certain diseases.
[Genetic information and work environment]
The potential for using genetic information to reduce the risk of workplace injuries.
The possibility of career aptitude diagnosis based on genetic information.
Risk of unfair dismissal due to genetic risk.
To address these issues, Europe and the United States have enacted the Genetic Information Nondiscrimination Act (GINA) , which prohibits the consideration of genetic information in hiring decisions.
1. The relationship between genes and mental illness
Mental illnesses that involve genetic factors include schizophrenia, depression, bipolar disorder, etc. Recent research has shown that the risk of developing these illnesses is determined by the interaction of multiple genes .
[Major genes associated with mental disorders]
5-HTTLPR (serotonin transporter gene) : Involved in the risk of developing depression.
DISC1 (Disrupted-in-Schizophrenia 1) : Associated with risk of schizophrenia.
CACNA1C (calcium channel-associated gene) : Associated with the onset of bipolar disorder.
However, having these genes does not necessarily mean that you will develop the disease, as stress and environmental factors play a major role.
2. The psychological impact of undergoing genetic testing
Genetic testing can be psychologically taxing, especially if it identifies a high risk of cancer or neurological disease.
[Mental care after genetic testing]
Get genetic counseling : Understand your test results with a specialist and take appropriate measures.
Enhance stress management : Use mindfulness and counseling to reduce anxiety about test results.
Don’t worry too much : understand that genes are merely an indicator of risk, and that lifestyle and environment also play a major role in the actual onset of the disease.
1. Personal genetic data management and blockchain technology
Currently, genetic data is mainly managed by genetic testing companies, but technology that allows individuals to safely manage their own data is being developed. In particular, the management of genetic information using blockchain technology is attracting attention.
[Benefits of managing genetic information using blockchain]
Individuals have complete control over their genetic information .
This prevents third parties from using genetic information without permission .
Information can be safely shared with medical institutions and research institutions .
2. Combining genetic testing with AI (artificial intelligence)
Genetic analysis using AI technology enables faster and more accurate risk prediction than ever before. AI can analyze vast amounts of genome data and provide health advice based on individual genetic characteristics.
[Advancement of genetic testing using AI]
More precise disease risk prediction : Risk analysis beyond conventional statistical models is possible.
Advances in personalized medicine : Proposing optimal treatments based on individual genomic information.
Lifestyle optimization : Personalized advice on diet, exercise, and sleep based on genetic information.
3. Genetic testing and the future of healthcare
In the future, genetic testing may become a common part of everyday health management. For example, we may see an era in which genetic testing is linked to smartwatches and wearable devices, enabling real-time health management based on genetic risk.
1. Personalized medicine using genetic information
Advances in genetic testing are making “precision medicine,” which involves selecting the most appropriate treatment for each patient based on their genetic information, increasingly a reality.
[Examples of personalized medicine]
Cancer treatment : Select the most effective molecular targeted drug based on the patient’s genetic mutation.
Treatment of cardiovascular disease : Genetic testing is used to understand genetic characteristics related to blood pressure and cholesterol metabolism, and individualized medication prescriptions are then provided.
2. Genetic testing and smart healthcare
Advances are also being made in technology that can utilize genetic information in daily life by linking it with wearable devices and smartphones. For example, people who are genetically predisposed to gaining weight may be able to receive optimal dietary and exercise advice in real time.
[Examples of smart healthcare applications]
Sleep tracker : Based on genetic information, it suggests ideal sleep duration and sleeping habits.
Diet app : Creates meal plans to prevent diabetes and high blood pressure based on genetic risk.。
3. Further evolution of genetic testing
Genetic testing technology will continue to evolve, expanding not only disease prediction but also the potential for treatment in combination with gene editing technology. With the development of technologies such as CRISPR, it may become possible to correct specific gene mutations and reduce the risk of disease.
By utilizing the results of genetic testing, it will be possible to design a lifestyle that is optimal for each individual’s physical constitution. For example, people who are genetically slow to metabolize caffeine can improve the quality of their sleep by refraining from drinking coffee in the afternoon. Also, knowing exercise aptitudes will make it possible to create efficient training plans.
In the future, as the accuracy of genetic testing improves and more detailed individual optimization becomes possible, the way we manage our health will likely change dramatically.
Genetic testing is a groundbreaking technology that visualizes individual health risks and helps prevent disease and optimize lifestyles. Recent technological innovations are making more precise risk prediction and personalized medicine possible. Furthermore, by linking genetic testing with AI and wearable devices, real-time health management utilizing genetic information will become a reality.
However, handling genetic information also entails ethical issues, so it is important to understand and use it appropriately. As science advances, it is important to use genetic testing wisely to build a healthier future.
