Heart disease is one of the leading causes of death worldwide, and its prevention and early detection are important. In recent years, advances in genetic testing have made it possible to identify an individual’s genetic risk and take appropriate preventive measures. In this article, we will provide a detailed explanation of measures to reduce the risk of heart disease using genetic testing, including the latest research results.
What is genetic testing?
Genetic testing is a method of analyzing an individual’s DNA sequence to detect genetic mutations associated with certain diseases or predispositions. With regard to heart disease, it is known that genetic factors influence the onset and progression of the disease, and these risks can be assessed through genetic testing.
Heart disease and genetic factors
Some heart diseases, such as familial hypercholesterolemia and hereditary arrhythmias, have a clear genetic background. For example, congenital long QT syndrome (LQTS) is a type of hereditary arrhythmia that increases the risk of sudden death and is believed to be caused by a specific gene mutation. A survey by the National Cerebral and Cardiovascular Center found that approximately 60% of LQTS patients have a genetic mutation.
How to use genetic testing
Genetic testing can provide the following benefits:
Early diagnosis and prevention: By identifying genetic risk before symptoms appear, it is possible to prevent the onset of heart disease through lifestyle changes and regular screening.
Family impact assessment: Since inherited heart diseases can run in families, testing can help family members share the risk and take appropriate measures.
Determining treatment options: Based on genetic information, the most appropriate treatment and medication can be selected, which is expected to improve treatment outcomes.
Introducing Polygenic Risk Scores (PRS)
In recent years, a method called Polygenic Risk Score (PRS) has been attracting attention. This method quantifies an individual’s risk of disease by comprehensively evaluating multiple genetic mutations. According to Bangkok Heart Hospital, the PRS test is useful for assessing the risk of heart disease regardless of age or gender and is especially recommended for people over 40 years old and those with risk factors such as high blood pressure, diabetes, and dyslipidemia.
Genetic testing procedures
The general steps for undergoing genetic testing are as follows:
Consultation at a medical institution: Consult with a cardiologist and genetic counselor to clarify the necessity and purpose of the testing.
Sample collection: Typically, blood or saliva is collected, and genetic analysis is performed.
Interpretation of results and counselling: Based on the test results, a doctor or counsellor will explain the risk assessment and future course of action.
Even if the test result is positive, the risk can be effectively managed through maintaining a good lifestyle and regular medical checks.
Sudden Cardiac Death and Genetic Testing
Genetic testing is also helping to clarify the causes of sudden cardiac death in young people. A study conducted in Australia and New Zealand reported that the rate of identifying the cause of sudden cardiac death in patients aged 1 to 35 years was significantly improved by adding genetic testing to cases in which the cause could not be determined by autopsy.
Current status of genetic testing in Japan
In Japan, genetic testing to assess the risk of heart disease is gradually becoming more common. For example, companies such as GeneQuest and MyCode provide services to consumers that analyze the risk of myocardial infarction, high blood pressure, and arteriosclerosis at the genetic level. This makes it possible for individuals to understand their own risk of cardiovascular disease and take preventive measures.
Public institutions such as the National Cerebral and Cardiovascular Center are also strengthening screening for familial hypercholesterolemia (FH) and hereditary arrhythmias, and have pointed out the importance of genetic testing, especially for people with a family history. The Ministry of Health, Labor and Welfare is also evaluating the usefulness of genetic testing as part of preventive medicine and is considering expanding insurance coverage.
In addition, genetic testing at medical institutions is evolving in combination with personalized medicine (precision medicine), and treatment plans are being determined based on the patient’s genetic background. For example, new treatments such as PCSK9 inhibitors may be recommended for people for whom cholesterol-lowering drugs such as statins are genetically ineffective.
Measures to reduce the risk of heart disease
After identifying your risk of heart disease through genetic testing, it is important to decide what measures to take. Even if you have a high genetic risk, you can significantly reduce your risk of developing the disease by practicing appropriate lifestyle habits.
1. Improve your diet
Improving your diet is essential to prevent heart disease. Pay particular attention to the following points:
Eat omega-3 fatty acids The omega-3 fatty acids found in fish help prevent arteriosclerosis and maintain heart health. Fish such as salmon, mackerel, and sardines are especially recommended。 Evidence: The American Heart Association (AHA) reports that consuming omega-3 fatty acids reduces the risk of coronary artery disease (ahajournals.org).
Limiting sodium (salt) intake: High blood pressure is one of the major risk factors for heart disease, and excessive salt intake can cause high blood pressure. Japanese people have a high salt intake compared to other countries, so it is recommended that people reduce their salt intake to 6g or less per day.
Increase your fiber intake. Fiber found in vegetables, fruits and whole grains helps lower cholesterol and stabilize blood sugar levels.
2. Establishing an exercise habit
Even if you are genetically at high risk for heart disease, moderate exercise can help maintain your cardiovascular health, especially by:
Aerobic exercise (walking, jogging, cycling) Moderate aerobic exercise for more than 150 minutes per week has been reported to reduce the risk of myocardial infarction and stroke by more than 30%.
Strength training can help lower blood pressure and improve insulin sensitivity, helping to prevent heart disease.
Stretching/Yoga helps reduce stress and stabilize blood pressure, which helps lower the risk of cardiovascular disease.
3. Quit smoking and drink less
Smoking promotes arteriosclerosis and is one of the factors that significantly increase the risk of heart disease. People who are genetically at high risk of coronary artery disease are strongly encouraged to quit smoking. Research has shown that the risk of myocardial infarction decreases by more than 50% five years after quitting smoking.
In addition, excessive alcohol intake can cause high blood pressure and put a strain on the heart, so it is important to drink in moderation. There are reports that moderate drinking (about one glass of wine per day) has a positive effect on the heart, but it is important to control your drinking according to your individual genetic constitution.
4. Manage stress and improve sleep
Stress is one of the factors that increase the risk of developing heart disease. People who are genetically vulnerable to stress are especially encouraged to adopt relaxation techniques that enhance the activity of the parasympathetic nervous system.
Mindfulness meditation has been shown to lower heart rate and blood pressure and suppress the secretion of stress hormones.
Improve your sleep quality: Getting 6-8 hours of quality sleep can help maintain your cardiovascular health. Sleep apnea (OSA) increases the risk of heart disease, so people with a genetically high risk should get tested.
5. Regular medical check-ups at medical institutions
If your genetic testing has determined that you are at high risk for heart disease, it is important to have regular health checks, especially the following:
Monitor your blood pressure: High blood pressure is one of the biggest risk factors for heart disease.
Check your LDL cholesterol levels: People who are genetically at risk for hypercholesterolemia are recommended to have testing at least once a year.
Electrocardiogram/echocardiogram: Early detection of arrhythmias and myocardial abnormalities.
In Japan, it is possible to assess the risk of heart disease through specific health checkups (metabolic syndrome checkups) and medical examinations. Early detection and early treatment are important, and it is recommended that people visit an appropriate medical institution based on the results of their genetic testing.
Genetic testing is a powerful tool to inform your risk for heart disease, but it’s also important to use it as a guide to taking appropriate preventative measures. A combination of regular screening, healthy lifestyle choices, and stress management can help minimize your genetic risk and maintain a healthy heart.
New medical techniques to manage your heart disease risk
Along with the development of genetic testing, medical technologies to reduce the risk of heart disease are also evolving. Currently, diagnostic technologies that utilize precision medicine and artificial intelligence (AI) are attracting attention, and these innovative technologies are making a significant contribution to preventive medicine and early detection.
1. AI-based assessment of heart disease risk
AI technology is being used to analyze large amounts of genetic data and medical records to precisely assess an individual’s risk of heart disease.
ECG Analysis by AI A research team from Google Health and Stanford University reported that AI-based ECG analysis can detect minute abnormalities that could not be detected by conventional methods. This technology has the potential to predict the risk of atrial fibrillation and myocardial infarction with high accuracy.
Integrating genetic data with AI AI-based polygenic risk scores (PRS) enable more accurate risk prediction by comprehensively evaluating thousands of genetic mutations rather than a single gene mutation. According to a study by Massachusetts General Hospital, the PRS can predict the risk of developing a myocardial infarction with up to three times the accuracy.
2. The Potential of Gene Therapy
Advances in gene editing technology may make it possible to prevent and treat heart disease in the future, with gene editing using CRISPR-Cas9 in particular attracting attention.
Gene editing to lower LDL cholesterol A treatment is being developed that uses gene editing to suppress the activity of the PCSK9 gene, lowering LDL (bad) cholesterol levels and reducing the risk of arteriosclerosis and myocardial infarction. American biotechnology company Verve Therapeutics is conducting clinical trials of gene editing therapy targeting PCSK9, and safety and efficacy are being evaluated.
Treatment of familial hypercholesterolemia (FH) FH patients have high cholesterol levels and atherosclerosis progresses quickly, so even young people are at high risk of myocardial infarction. It is expected that the application of CRISPR technology will enable the correction of the causative gene for FH and provide a fundamental treatment.
3. Genetic testing and precision medicine
Personalized medicine is an approach that provides optimal treatment for each patient based on genetic information. In particular, “pharmacogenomics,” which uses genetic testing to evaluate the effectiveness of drugs and the risk of side effects, is making great strides.
Selection of antiplatelet drugs Due to genetic mutations, some patients are less effective at treating certain antiplatelet drugs (e.g., clopidogrel).By analyzing the drug metabolism ability through genetic testing, the risk of thrombosis can be reduced by prescribing more appropriate drugs.
Drug Selection for Hypertension Treatment Whether ACE inhibitors or β-blockers are effective depends on individual genetic factors, so there is a need to select appropriate drugs using genetic testing.
4. Heart disease risk and epigenetics
Epigenetics (changes in gene expression after birth) shows that the risk of disease can change depending on the environment and lifestyle, even in the absence of direct genetic mutations.
DNA methylation and cardiovascular disease Recent studies have shown that DNA methylation patterns are associated with the risk of heart disease, suggesting that individuals with high levels of certain methylation markers may be at increased risk of developing atherosclerosis.
Stress and epigenetics It has been reported that chronic stress over a long period of time affects gene expression and increases the risk of cardiovascular disease. Stress management and mindfulness practices may contribute to maintaining heart health.
5. The future of genetic testing and heart disease prevention
Genetic testing technology will continue to evolve in the future, making it easier and more precise to assess individual health risks.
The evolution of home genetic testing kits Currently, genetic testing is mainly undertaken at medical institutions, but in the near future, we may be able to screen for cardiovascular disease risk using simple home testing kits.
Integration with wearable devices It is believed that combining genetic data with smartwatches such as the Apple Watch or Fitbit will enable more advanced health management. Systems are being developed that integrate heart rate variability data and genetic information to monitor risks in real time.
6. Ethical issues in genetic testing
As genetic testing becomes more widespread, attention must be paid to privacy and ethical issues.
Handling of genetic information Genetic information is extremely sensitive personal information and must be managed appropriately. Laws are being developed to prevent unauthorized use by companies and insurance companies.
Psychological impact of test results Finding out that you have a genetic risk of heart disease can cause anxiety for patients, making genetic counselling increasingly important.
Advances in genetic testing and modern medical technology have significantly improved the assessment and prevention of heart disease risk. In the future, personalized medicine using AI and gene editing technology will likely become more widespread, enabling more effective prevention and treatment of cardiovascular disease.
Genetic testing and lifestyle optimization
Reducing the risk of heart disease requires not only genetic factors, but also environmental factors and lifestyle management.
1. Genotype-based nutrition
Nutritional strategies to manage heart disease risk can be optimized according to individual genotype. Nutritional strategies based on genetic factors include:
LDL cholesterol metabolism and diet People with genetic mutations in PCSK9 or APOE are prone to high LDL cholesterol levels, so it is recommended that they limit their intake of saturated fatty acids and eat a diet rich in omega-3 fatty acids. Evidence: The British Heart Association (BHF) reports that people with certain APOE mutations should reduce their intake of animal fats and be recommended to follow a Mediterranean diet.
Caffeine sensitivity and blood pressure It is known that caffeine metabolism speed differs due to CYP1A2 gene mutations, and some people are more susceptible to increasing blood pressure due to caffeine intake. It is recommended to evaluate the effect of caffeine through genetic testing and adjust the intake amount. Evidence: According to a study by the American Society for Nutrition, people with the genotype of the CYP1A2 gene “slow metabolizer (hard to break down caffeine)” may have a two-fold increased risk of hypertension.
B Vitamins and HomocysteinePeople with mutations in the MTHFR gene have a slower metabolism of homocysteine (an amino acid that damages blood vessels) and are more likely to develop hyperhomocysteinemia. For this reason, it is recommended that people take more folic acid and vitamins B6 and B12. Evidence: A Harvard University study showed that people with MTHFR mutations can reduce their risk of cardiovascular disease by 30% by taking in enough folic acid.
2. Gene-Based Exercise Programs
Genetic factors also affect the effectiveness of exercise and the appropriate training methods. Using genetic testing, it is possible to create an exercise program that is optimal for you.
The ACTN3 gene, which is involved in improving cardiopulmonary function is involved in the development of fast-twitch muscle fibers and affects explosive exercise such as sprinting. On the other hand, people with a mutation in the PPARGC1A gene, which is involved in endurance, are known to be suited to long-distance running and aerobic exercise Evidence: A study at McMaster University in Canada showed that people with a specific variant of the PPARGC1A gene doubled their improvement in endurance through aerobic exercise.
Relationship between exercise and blood pressure For people at risk of hypertension, the effect of exercise on lowering blood pressure varies depending on genetic factors. For people with AGT gene mutations, endurance training is more effective at lowering blood pressure, so it is a good idea to make walking or jogging a habit.
3. The relationship between mental health and heart disease
Stress and mental health have a significant impact on the risk of developing heart disease. Genetic testing can be used to evaluate the relationship between stress tolerance and mental health and take appropriate measures.
Stress tolerance and genes Stress tolerance differs depending on the variant of the COMT gene. People who are vulnerable to stress can reduce their risk of heart disease by adopting stress management methods such as meditation and yoga. Evidence : A study at Stanford University reported that people with a specific variant of the COMT gene reduced the secretion of cortisol (the stress hormone) by 30% by practicing mindfulness meditation.
Genetic factors for sleep Mutations in the CLOCK gene are involved in regulating the circadian rhythm (body clock), and irregular sleep habits may increase the risk of heart disease. It is important to use genetic testing to establish a sleep rhythm that suits you.
4. The future of genetic testing and its impact on society
The role of genetic testing in assessing heart disease risk is likely to expand in the future.
Integration of wearable devices and genetic information Smartwatches will be able to measure heart rate and stress levels in real time and combine this with genetic data to enable more personalized health management.
Advances in personalized medicine New diagnostic systems are being developed that use AI-based big data analysis to integrate genetic information and lifestyle data to predict the risk of cardiovascular disease.
Strengthening social ethics and legal regulations Privacy protection and ethical issues regarding the handling of genetic information are also important. Each country has established laws to properly manage genetic information and protect the rights of individuals.
Genetic testing is not just a diagnostic tool, but a powerful tool for optimizing individual lifestyles and reducing the risk of heart disease. By implementing nutritional management, exercise habits, and stress management based on genetic information, more effective prevention is possible. It is expected that future technological innovations will provide more personalized medical care.
Summary
Genetic testing is a powerful tool for assessing your risk of heart disease and determining optimal preventive measures for you. By analyzing genetic factors such as LDL cholesterol metabolism, caffeine sensitivity, and homocysteine levels, and by personalizing your diet and exercise habits, you can effectively reduce your risk.
In addition, advances in AI-based electrocardiogram analysis and gene editing technology are improving the accuracy of early diagnosis and treatment. Research is also underway to evaluate stress resistance and sleep rhythms at the genetic level to help prevent cardiovascular disease.
In the future, integration with wearable devices and the development of personalized medicine will enable more precise health management. It is expected that the spread of preventive medicine using genetic information will minimize the risk of heart disease and extend healthy life expectancy.
It is expected that the widespread use of preventive medicine using genetic information will minimize the risk of heart disease and extend healthy life expectancy. Collaboration with appropriate medical institutions will also be important, and by combining this with regular checkups, more effective risk management will be achieved.
