Personalized medicine is a new form of medical care that provides optimal treatment and preventive measures based on the genetic information of each individual patient. Unlike conventional, uniform treatment methods, this approach aims to maximize therapeutic effects and minimize side effects by taking into account each patient’s genetic background, constitution, and living environment.
1. Background of personalized medicine
Recent advances in genome research have revealed that genes are deeply involved in the onset and progression of diseases. As a result, the development of testing techniques to examine genes and therapeutic drugs for genetic abnormalities has progressed, making personalized medicine possible.
2. Advances in genetic analysis technology
The advent of next-generation sequencing (NGS) technology has dramatically improved the speed and accuracy of genetic analysis, making it possible to analyze an individual’s entire genome in a short period of time and providing a detailed understanding of their individual genetic characteristics.
3. Relationship between genetic information and disease risk
Many studies have shown that certain genetic mutations are associated with the risk of developing cancer and rare diseases. For example, mutations in the BRCA1 and BRCA2 genes are known to increase the risk of breast cancer and ovarian cancer.
4. Examples of personalized medicine in practice
Cancer treatment : Efforts are underway to improve the effectiveness of cancer treatment by identifying genetic mutations in cancer and using targeted drugs to treat them.
Treatment of hypertension : Attempts are being made to reduce salt intake by providing individualized advice to people with salt-sensitive genotypes who are prone to hypertension through an AI health app that utilizes genetic information. citeturn0search2
5. Data integration and AI utilization
By integrating a variety of data, including not only genetic information but also electronic medical records and life logs obtained from wearable devices, and utilizing AI, more accurate diagnoses and treatments are possible. For example, AI is analyzing massive amounts of genomic data, discovering new disease risks and contributing to the development of personalized medicine.
6. Challenges of personalized medicine
Data privacy : Personal genetic information is highly private and must be handled with care. Appropriate data protection and ethical guidelines must be in place.
Healthcare disparities : Advanced genetic analysis and personalized treatments can be expensive, raising concerns about inequal access to healthcare due to economic disparities.
7. Future Outlook
It is expected that personalized medicine will be able to address a wider range of diseases and symptoms as genetic information is further elucidated and technological innovations advance. In the fields of preventive medicine and health promotion, the spread of approaches based on individual genetic characteristics could lead to an extension of healthy lifespan and a reduction in medical costs.
Personalized medicine using genetic information has the potential to dramatically change the future of medicine. However, to realize this, not only technological advances but also ethical and social issues must be addressed. Going forward, we must overcome these challenges and build a medical system that can benefit as many people as possible.
8. Specific application areas of personalized medicine using genetic information
Personalized medicine is being increasingly applied not only to cancer treatment but also to a variety of other diseases and health management fields.
a. Personalized medicine for neurological diseases
Neurodegenerative diseases such as Alzheimer’s and Parkinson’s are known to develop due to the involvement of multiple genes and environmental factors. By utilizing genetic testing, it is possible to identify the risk of these diseases early and take individual preventive measures.
The APOE Gene and Alzheimer’s Disease
People with the APOE-ε4 gene mutation are known to be at increased risk of Alzheimer’s disease.
This could potentially be used to improve lifestyle habits and select future treatments.
LRRK2 gene and Parkinson’s Disease
Mutations in the LRRK2 gene are known to increase the risk of Parkinson’s disease.
Individualized treatment approaches are being developed.
b. Psychiatric disorders and pharmacogenomics
In psychiatric disorders such as schizophrenia and depression, the effectiveness and side effects of drugs vary depending on each patient’s genetic background. Advances in pharmacogenomics are making it possible to select the most appropriate drug for each patient.
CYP2D6 gene and antidepressant effects
Some antidepressants are metabolized by the enzyme CYP2D6.
It is known that mutations in this gene affect the rate at which drugs are metabolized, which can affect whether or not the drug is effective and the risk of side effects.
HTR2 gene and antipsychotic side effects
Mutations in the HTR2A gene may affect the risk of experiencing side effects from antipsychotics.
c. Lifestyle-related diseases and individualized prevention
Genetic information is also being used to prevent and manage lifestyle-related diseases such as diabetes and high blood pressure.
TCF7L2 gene and diabetes risk
Genetic mutations that increase the risk of type 2 diabetes have been identified and are helping to adjust diet and exercise.
ACE gene and high blood pressure
People with certain mutations in the ACE gene are at higher risk of hypertension, so it is recommended that they manage their salt intake and select appropriate medications.
9. Latest Trends in Cancer Treatment Using Genetic Information
Personalized medicine has made great progress in cancer treatment. Instead of conventional chemotherapy, an approach has been established in which the genetic mutations of a patient’s cancer cells are analyzed and the most appropriate therapeutic drug is selected.
a. Evolution of molecular targeted therapy
Therapies targeting genetic mutations specific to cancer cells are rapidly developing.
EGFR Mutations and Lung Cancer Treatment
In non-small cell lung cancer, EGFR gene mutations have a significant impact on the effectiveness of therapeutic drugs.
It is now possible to select patients for whom EGFR inhibitors (such as gefitinib) are effective, thereby improving the therapeutic effect.
HER2 Amplification and Breast Cancer Treatment
Herceptin (trastuzumab) is considered effective for breast cancer patients with amplified HER2 genes.
Genetic testing can help identify eligible patients and provide optimal treatment.
b. Promotion of cancer genomic medicine
In Japan, “cancer genomic medicine” became covered by insurance in 2019, and genetic panel testing is now available at medical institutions across the country.
Cancer gene panel testing makes it possible to analyze more than 100 types of gene mutations at once.
Treatment options can be selected according to the characteristics of each patient’s cancer.
c. New developments in cancer immunotherapy
Cancer immunotherapy is also moving towards personalized approaches that utilize genetic information.
PD-L1 expression and immune checkpoint inhibitors
Opdivo (nivolumab) and Keytruda (pembrolizumab) are considered effective for cancer patients with high expression of a protein called PD-L1 .
Genetic testing has made it possible to identify patients who are likely to benefit from treatment and administer the appropriate treatment.
10. Future medical technologies using genetic information
a. Advances in AI and big data analysis
AI technology for analyzing genetic data is evolving rapidly, contributing to predicting disease risk and determining treatment plans.
AI learns from vast amounts of genomic data and discovers new disease risk genes.
Systems are being developed that automatically suggest the optimal treatment for each individual patient.
b. Development of gene editing technology
Gene editing using CRISPR-Cas9 has the potential to treat genetic diseases.
Treating sickle cell disease and beta thalassemia
It is hoped that gene correction using CRISPR will provide a fundamental treatment.
Targeted therapy of cancer cells
Development of new treatments using gene editing is underway.
c. Interaction between genes and environmental factors (epigenetics)
It has become clear that not only genetic information but also environmental factors affect gene expression.
By improving your lifestyle, it may be possible to optimize the function of your genes.
Research is underway to analyze the effects of diet, exercise, stress management, etc. on gene expression.
Personalized medicine is enabling more precise and effective treatments thanks to advances in genetic information and the latest technology. In the future, advances in research into AI, gene editing, epigenetics, and other areas will likely lead to even more advanced personalized medicine.
11. Genetic information and new approaches to disease prevention
Personalized medicine is making a significant contribution not only to treatment but also to disease prevention. By utilizing genetic information, it is becoming possible to take individual preventive measures against diseases for which there is a high risk of developing.
a. Cardiovascular disease risk assessment and prevention
Cardiovascular disease is a disease that involves both genetic and lifestyle factors, but genetic testing can provide more personalized prevention measures.
9p21 gene and coronary artery disease
People with mutations in the 9p21 gene are known to be at increased risk of coronary artery disease.
Based on this information, early lifestyle changes (diet, exercise, smoking cessation, etc.) are recommended.
PCSK9 gene and cholesterol management
People with a mutation in the PCSK9 gene are more likely to have high LDL cholesterol levels.
Based on the genetic information, appropriate statin therapy or PCSK9 inhibitors will be considered.
b. Prevention and management of metabolic diseases
The risk of developing metabolic diseases such as obesity and diabetes is also influenced by genetic factors.
FTO gene and obesity risk
People with certain mutations in the FTO gene are more likely to increase their energy intake and become obese.
With this information, a personalized diet and exercise program can be designed.
SLC30A8 gene and Type 2 diabetes
Mutations in the SLC30A8 gene are known to affect insulin secretion and increase the risk of diabetes.
It is recommended to combine this with dietary management and exercise therapy to reduce the risk.
c. Individualized treatment for allergies and immune disorders
By utilizing genetic information, it will be possible to more effectively prevent and treat allergies and autoimmune diseases.
HLA gene and autoimmunie diseases
Certain types of HLA genes are associated with the risk of autoimmune diseases such as rheumatoid arthritis, type 1 diabetes, and multiple sclerosis.
Early immunosuppressive therapy and lifestyle adjustments have been shown to be effective.
Filaggrin（FLG）gene and atopic dermatitis
It is known that people with FLG gene mutations have a weakened skin barrier function and an increased risk of atopic dermatitis.
Optimizing your skin care routine and managing your environment are key.
12. Genetic Information and Reproductive Health
In reproductive medicine as well, personalized medicine that utilizes genetic information is advancing.
a. Individualization of infertility treatment
It is known that some of the causes of infertility are related to genes, and genetic testing can be used to select more appropriate treatment options.
FSHR gene and ovarian simulation response
Specific mutations in the FSHR gene have been reported to affect different responses to ovulation-inducing drugs.
Based on your genetic information, hormone therapy can be adjusted.
ESR1 gene and implantation success rate
Mutations in the ESR1 (estrogen receptor) gene may affect the success of embryo implantation.
Genetic testing can help you choose the hormone replacement therapy that’s best for you.
b. Prenatal testing and genetic counseling
Prenatal testing assesses the risk of congenital diseases by analyzing the genetic information of the fetus.
NIPT（Non-Invasive Prenatal Testing
The fetal DNA from the mother’s blood is analyzed to assess the risk of Down Syndrome (Trisomy 21) and other chromosomal abnormalities.
CFTR gene and cystic fibrosis
Parents with a CFTR gene mutation can have children who are at increased risk for cystic fibrosis.
Prenatal testing allows for early and appropriate care planning.
13. Public health strategies using genetic information
Genetic information is being used not only at the individual level but also in public health strategies.
a. Utilizing genetic data to combat infectious diseases
It has been found that genetic factors play a role in the risk of infection and the risk of developing severe symptoms of the new coronavirus (COVID-19).
ACE2 gene and COVID-19
It has been suggested that mutations in the ACE2 gene may affect how the virus enters cells.
Using genetic testing, it will be possible to actively recommend vaccination to those at high risk.
b. Urban planning and environmental management based on genetic information
Some genetic variants are known to affect sensitivity to air pollution and chemicals.
Incorporating genetic information into public health policy can help tailor environmental measures to target high-risk populations.
Personalized medicine using genetic information is being applied in a wide range of fields, from disease prevention and treatment to public health. With advances in technology, it is expected that even more advanced personalized medicine will become a reality. This innovation will shape the future of medicine and will lead to improved health and quality of life for many more people.
14. Sports medicine and rehabilitation using genetic information
Genetic information is also being applied in the fields of sports medicine and rehabilitation to design training and recovery programs tailored to individual physical constitutions.
a. The relationship between genes and athletic ability
Research has shown that certain genes influence muscle strength and endurance, and understanding your individual genetics can help you create the optimal exercise plan.
ACTN3 gene and muscle strength
Mutations in the ACTN3 gene affect the development of fast-twitch muscle fibers (muscles that produce explosive force).
Some athletes have been found to have particular variants of this gene that make them better suited for sports such as sprinting and weightlifting.
PPARGC1A gene and endurance
The PPARGC1A gene is involved in energy metabolism and endurance, and people with certain variants may be better suited to marathons and long-distance cycling.
b. Optimizing rehabilitation using genetic information
The recovery process after injury or surgery varies from person to person depending on genetic factors, and genetic information is being used to develop appropriate rehabilitation plans.
COL5A1 gene and tendon strength
Mutations in the COL5A1 gene have been reported to affect tendon flexibility and injury risk.
It helps assess the risk of Achilles tendonitis and ligament injuries and design an appropriate rehabilitation program.
IL6 gene and inflammatory response
The IL6 gene is involved in regulating inflammation, and mutations in the gene have been shown to affect different speeds of recovery.
Can be applied to individualized rehabilitation plans to shorten post-operative recovery times.
15. Advances in genetic information and nutritional management (nutrigenomics)
Dietary management based on individual genetic characteristics (nutrigenomics) is attracting attention, and personalized nutritional guidance is now possible using genetic testing.
a. Relationship between nutritional metabolic capacity and genes
It has become clear that genetic differences result in individual differences in the ability to metabolize nutrients.
LCT gene and lactose intolerance
Mutations in the LCT gene can reduce the activity of the enzyme that breaks down lactose (lactase), causing lactose intolerance.
Genetic testing can determine whether or not you should limit your dairy intake.
CYP1A2 gene and caffeine metabolism
Different variants of the CYP1A2 gene affect the rate at which caffeine is metabolized.
If you have a slow metabolism, limiting your caffeine intake can help reduce your health risks.
b. The relationship between diet and genetic information
By utilizing genetic information, it is possible to individually design an effective diet plan.
FTO gene and obesity tendency
People with a mutation in the FTO gene are more likely to store fat and have an increased appetite.
It is used as an indicator to make dietary restrictions and exercise therapy more effective.
ADRB2 gene and fat burning
The ADRB2 gene is involved in fat metabolism, and people with certain mutations may respond differently to aerobic exercise.
16. The relationship between genetic information and sleep
By utilizing genetic information, it is becoming possible to discover optimal sleep habits.
a. Relationship between sleep duration and genes
DEC2 gene and short sleepers
People with a mutation in the DEC2 gene can function well on short periods of sleep (4-6 hours).
This could help individualize sleep duration.
CLOCK gene and circadian rhythm
The CLOCK gene is involved in regulating the body clock, and it has been reported that mutations in the gene can change whether a person is a night-type or morning-type.
Through genetic testing, we can design an optimal sleep schedule for you.
b. Individualized treatment of sleep disorders
PER3 gene and insomnia
Certain mutations in the PER3 gene are associated with risk of chronic insomnia.
It is used as an indicator for selecting individual treatment methods.
17. Future healthcare ecosystem utilizing genetic information
In the future, genetic information may be used beyond the realm of medicine to affect lifestyles in general.
a. Popularization of personal healthcare platforms
The integration of genetic information and wearable devices has led to the development of systems that can monitor health conditions in real time.
AI analyzes an individual’s genetic information and life log to provide optimal health guidance.
b. Use of genetic data by companies
Customization services utilizing genetic information are on the rise in the fitness, nutrition, and supplement industries.
Individualized meal plans and supplements will become more available.
c. A new insurance system based on genetic information
Healthcare insurance that utilizes genetic information has emerged as part of preventive medicine.
Premium discounts for people with low health risks and early intervention programs for those at high risk are being considered.
The use of genetic information is going beyond medicine and is beginning to affect every aspect of our lives. Advances in personalized healthcare are expected to lead to healthier, more fulfilling lives in the future.
18. Future medical treatment utilizing genetic information and ethical issues
a. Gene editing technology and ethical debate
Advances in gene editing technologies such as CRISPR-Cas9 are making it possible to treat diseases at the genetic level, but this also brings with it ethical challenges.
The line between therapeutic purposes and artificial genetic modification
Editing for the purposes of preventing or treating genetic diseases is acceptable, but modifications aimed at improving intelligence or physical abilities are viewed as ethically questionable.
A society-wide discussion is needed about what types of genetic modifications are acceptable.
b. Genetic Privacy and Data Protection
Genetic information is highly personal data and must be handled with care.
Concerns about inappropriate use by companies and insurance companies
Genetic information could be used to discriminate insurance premiums and make employment decisions.
Appropriate data management based on legal regulations such as GDPR (General Data Protection Regulation) is required.
c. The future of healthcare using genetic information
In the future, “preventive medicine” based on individual genome data may become widespread, ushering in an era in which the onset of disease can be prevented.
Development of personalized vaccines and drugs
Research is underway to utilize genetic information to develop vaccines and medicines tailored to each individual’s constitution.
It is hoped that analysis of immune responses based on genetic factors will be useful in combating infectious diseases.
Summary
Personalized medicine using genetic information is expanding the possibilities for individualized treatment and disease prevention. While its applications are expanding in a wide range of areas, including cancer treatment, mental illness, nutritional management, and sports medicine, issues regarding the ethics of gene editing and data protection have also emerged. In the future, the realization of safe and fair medical care will be required through technological development and appropriate legal development.
