Genetic diseases are a group of diseases that develop due to specific gene mutations. In recent years, advances in genetic testing technology have led to dramatic progress in the development of diagnostic and treatment methods for these diseases. This article provides a detailed explanation of the basics of genetic testing, the diagnosis and treatment of genetic diseases, and the latest research trends.
Basic knowledge of genetic testing
What is genetic testing?
Genetic testing is a test that analyzes an individual’s DNA sequence to detect specific gene mutations or abnormalities. This makes it possible to evaluate the presence or absence of hereditary diseases and the risk of developing them. According to the guidelines of the Japanese Medical Association, genetic testing enables the appropriate selection of treatment and prevention methods for diseases, and is widely and effectively used throughout the medical field.
Types of Genetic Testing
Genetic tests are classified as follows according to their purpose and subject:
Diagnostic tests : Tests performed on symptomatic patients to identify disease-causing genetic mutations.
Predictive tests : Tests used to assess the future risk of developing a disease in people who have no symptoms.
Carrier testing : Testing to determine whether a person is a carrier of a genetic disease and to assess the risk of passing it on to offspring.
Prenatal testing : Testing to detect genetic abnormalities in the fetus.
These tests are selected appropriately depending on the patient and family situation.
Diagnosis and treatment of genetic diseases
The importance of diagnosis
Accurate diagnosis of genetic diseases is essential for developing appropriate treatment and management plans. According to the National Center of Neurology and Psychiatry, identifying the causative gene mutation is important for a definitive diagnosis of genetic muscle diseases.
Treatment advances
Treatment for genetic diseases varies depending on the type and severity of the disease. In recent years, research into new treatments, such as gene therapy and molecular targeted therapy, has been progressing. For example, exon skipping therapy for Duchenne muscular dystrophy has been developed.
Latest research trends
Advances in genome analysis technology
The advent of next-generation sequencers (NGS) has brought about dramatic advances in genome analysis, accelerating the elucidation of disease onset mechanisms and the development of new treatments.
Realizing personalized medicine
Personalized medicine based on genetic information is attracting attention. In cancer medicine, personalized treatment based on genetic information has begun, making it possible to select a treatment method that corresponds to a specific gene mutation.
Ethical aspects of genetic testing
As genetic testing becomes more widespread, ethical issues are also emerging. In particular, genetic testing for serious diseases with no cure poses significant ethical issues.
The Importance of Genetic Counseling
When undergoing genetic testing, genetic counseling by a specialized doctor or counselor is recommended. According to the National Center for Global Health and Medicine Hospital, genetic counseling provides information and psychological support to help patients and their families deepen their correct understanding of genetic diseases and reduce anxiety.
Genetic testing and early detection of genetic diseases
① The importance of early detection of genetic diseases
Genetic testing is attracting attention as a powerful tool for early detection of genetic diseases. Many genetic diseases take time for symptoms to appear, and the disease may progress during that time. By using genetic testing, it is possible to know the risk before the disease develops and take preventive measures early.
In particular, many genetic diseases, if they can be detected at a preventable stage , there are more treatment options available and the prognosis for patients can be significantly improved. For example, if you have a genetic mutation (BRCA1/BRCA2) that increases the risk of breast cancer or ovarian cancer, preventive surgery and regular monitoring are options for reducing your risk.
In addition, understanding the genetic factors related to lifestyle-related diseases such as cardiovascular disease and diabetes can also help with early detection and prevention. Genetic testing can help determine the lifestyle changes needed to prevent the onset of disease and the timing of medical intervention.
② Risk prediction and preventive measures through genetic testing
Genetic testing can be used to predict diseases for which there is a high genetic risk. For example, genes related to lifestyle-related diseases such as hypertension, diabetes, and dyslipidemia have been identified. These diseases involve genetic predisposition, and people with certain gene mutations are said to be at a higher risk of developing them than normal healthy people.
CYP2D6 gene : Affects the metabolism of some drugs and is used to individually tailor the effects and side effects of drugs.
FTO gene : Associated with weight gain and helps assess obesity and diabetes risk.
APOE gene : Used specifically to assess risk for Alzheimer’s disease and preventative measures may be taken based on familial risk.
By utilizing this information, it is possible to review diet, exercise, and lifestyle habits at an early stage, thereby reducing the risk of developing the disease. We are entering an era in which preventive measures and lifestyle changes can be instructed based on genetic information.
Actual use cases of genetic testing in the medical field
① Use of genetic testing in cancer treatment
Genetic testing plays a very important role in cancer treatment. Conventional cancer treatments were often determined according to the type of cancer, but treatment based on genetic information can provide the most appropriate treatment for each individual patient.
Cancer gene mutation analysis is used to understand cancer progression and apply new treatments such as molecular targeted therapy and immunotherapy. For example, HER2 and EGFR gene mutations in breast and colon cancers are useful for selecting targeted therapies.
EGFR inhibitors have been shown to be highly effective for lung cancer patients with EGFR gene mutations .
For breast cancer patients with BRCA gene mutations , gene therapy and PARP inhibitors are effective.
Testing for these gene mutations will enable the optimal treatment for each patient to be determined early on, maximizing the effectiveness of treatment.
② Advances in gene therapy
Gene therapy is a type of treatment based on the results of genetic testing, and aims to correct disease-causing gene mutations. Gene therapy has attracted attention, especially in the treatment of hereditary diseases.
Gene therapy is being used to treat diseases caused by genetic mutations, such as sickle cell disease and hemophilia .
For example, research is being conducted into the use of the gene editing technology CRISPR-Cas9 to correct genetic defects and treat diseases at their roots.
Gene therapy is still in the clinical trial stage and cannot be applied to all diseases, but it is expected that it will become an effective treatment for many hereditary diseases in the future.
3) Drug selection based on genetic testing
Genetic testing can also be used to understand individual differences in drug responses and side effects, allowing doctors to choose the best medications for each patient and minimize side effects.
CYP450 genes play an important role in drug metabolism, particularly influencing the efficacy of antidepressants and anticancer drugs .
Mutations in the MTHFR gene may change how well certain medicines (e.g. methotrexate) work for you or your risk of side effects.
This will enable personalized medicine tailored to each patient, making it possible to provide treatment with fewer side effects.
Social impacts of genetic information and ethical issues
1) Privacy issues
Genetic testing involves handling information that is highly related to an individual’s privacy, so careful consideration is required when handling the data. If genetic information is leaked to others, there is a risk that the individual may suffer disadvantages. For example, there is a possibility that discrimination or selection based on genetic information may occur in society, so appropriate laws and regulations are required.
Strong security measures are also required to prevent genetic information from being misused, including clearly defined storage locations and access controls for genetic data.
② Options based on genetic test results
How genetic test results are presented to patients and their families is crucial. The approach should take into account how patients will cope with the results when making treatment and lifestyle changes choices based on the test results.
The results may cause anxiety , so genetic counselling is recommended.
It is important to take care to prevent the psychological stress that comes with learning of one’s genetic risk and the associated social stigma .
The future of genetic testing
It is believed that genetic testing technology will continue to evolve and provide more precise and accurate results. With the introduction of new technologies, treatment options such as gene therapy and molecular targeted therapy will increase, making it possible to treat more diseases.
The combination of AI and genetic analysis is helping to optimize diagnosis and treatment, which will likely lead to more efficient medical care.
Advances in gene editing technology are increasing the possibility of treating diseases for which there are currently no treatments.
The increased use of genetic information will dramatically change our approach to health and medicine, ushering in a future in which more efficient and personalized medical care is available.
The spread of genetic testing and personalized medicine
① The evolution of personalized medicine
Genetic testing is accelerating the realization of personalized medicine , an approach that takes into account each patient’s genetic information, lifestyle, and environmental factors to provide optimal treatment and prevention measures. Genetic testing provides a detailed understanding of a patient’s genetic background and provides the basis for selecting effective and safe treatments.
In recent years, there has been remarkable progress in personalized medicine in cancer treatment, and by identifying the genetic mutations that cause cancer through genetic testing, it has become possible to select appropriate molecular targeted therapy or immunotherapy. For example, the survival rate of lung cancer patients has improved by selecting drugs that correspond to EGFR gene mutations.
Furthermore, personalized treatment based on genetic testing is also progressing for lifestyle-related diseases such as cardiovascular disease and diabetes . Early risk assessment using genetic information makes preventive treatment possible, allowing for the creation of optimal plans to prevent the onset of disease.
② Genetic information and drug optimization
Genetic testing is also used to optimize the selection of therapeutic drugs. Because genetic factors affect whether a particular drug is effective or likely to cause side effects, which differs from person to person, drug selection can be made based on genetic information.
For example, in the selection of anticancer drugs , detecting gene mutations specific to cancer cells allows for effective targeted therapy. It has been confirmed that HER2 inhibitors (e.g., trastuzumab) are effective for breast cancer patients with overexpression of the HER2 gene . This allows for high therapeutic efficacy while minimizing side effects.
In addition, by analyzing genes related to drug metabolism (CYP450 family), it is possible to predict the metabolic rate of drugs and adjust the appropriate dosage. For example, mutations in the CYP2D6 gene can affect the effects and side effects of antidepressants and anticancer drugs, so it is important to use genetic information to select drugs.
Innovations in genetic testing and treatment
① Advances in gene therapy
Gene therapy is rapidly developing as a treatment for genetic diseases and some cancers. Gene therapy is a treatment aimed at correcting genetic abnormalities, and offers new hope for diseases for which conventional treatments have been ineffective.
For example, gene therapy is effective for diseases caused by specific gene mutations, such as sickle cell disease and hemophilia . Advances in CRISPR-Cas9 technology have made it possible to edit genes more precisely and efficiently, correcting disease-causing genes. CRISPR technology has revolutionized gene therapy, providing new treatments for genetic diseases for which traditional therapies were ineffective.
For example, in the treatment of hemophilia , gene therapy has made it possible to supplement the missing clotting factors, dramatically improving the quality of life of patients. In the future, the scope of application of gene therapy will expand, and new treatments will be provided for more diseases.
② Combination of gene therapy and personalized medicine
As part of personalized medicine, gene therapy is moving towards selecting treatments based on each patient’s genetic information. Conventional treatments have taken a one-size-fits-all approach, but gene therapy makes it possible to provide treatments that are optimal for each patient’s genetic background.
For example, in cancer treatment, treatments that target gene mutations specific to a patient’s cancer cells are progressing, which has improved the effectiveness of treatment. Treatments that combine gene therapy and immunotherapy, such as immune checkpoint inhibitors and CAR-T cell therapy , have been developed and have shown high therapeutic effects even against cancers that were difficult to treat with conventional treatments.
Genetic testing and ethical issues
1) Privacy of genetic information and ethical issues
The information obtained through genetic testing is highly personal and requires high ethical standards to be followed when handling it. Genetic information contains detailed information about an individual’s health status and risks , and how it is used is a very important issue.
Privacy protection: If genetic data is leaked illegally, individuals may be subject to discrimination or disadvantage. There are particular concerns that genetic information may be used against them in employment and insurance applications.
Scope of data use: It is important to clarify the purpose of using genetic data and ensure that such use is done with consent. Strict regulations are necessary to prevent genetic data from being misused for commercial purposes.
② Genetic testing and its social impact
As genetic information becomes more widespread, society’s perceptions are changing. There is ongoing debate about how disease risks and genetic tendencies revealed through genetic testing will affect society.
Genetic discrimination : People with certain genetic variations may be subject to discriminatory treatment. Restrictions on the use of genetic information are needed, particularly when it is used for employment and insurance selection.
Mandatory genetic testing : There are concerns that genetic testing may become mandatory in the future. A careful discussion is needed as to whether testing should be voluntary for individuals or mandatory in the public interest.
Genetic information and the future of medicine
1. Combination of genetic analysis and medical technology
Advances in genetic analysis technology are expanding the possibilities for personalized medicine and are improving disease prediction and treatment selection. In the future, AI technology and big data analysis that combine genetic data and medical data will likely contribute to the discovery of more effective treatments and the development of new drugs.
The integration of AI and genomic analysis will enable faster and more accurate treatment options and disease risk prediction.
As gene editing technology (CRISPR-Cas9) evolves, treating diseases at the genetic level is becoming a reality.
② Genetic testing and society’s response
As genetic testing becomes more widespread, the question arises of how society should respond to it. Appropriate legal regulations and ethical guidelines are necessary to ensure that information from genetic testing is used correctly and benefits society as a whole.
Accessibility of genetic testing : It is important that genetic testing is accessible and fairly offered to the public.
Social acceptance and understanding : Increasing societal understanding and acceptance of the use of genetic information will be key to supporting the future spread of genetic testing technology.
Developments in genetic testing and future possibilities
① Next-generation gene analysis technology
In recent years, genetic analysis technology has made great strides, and the development of next-generation sequencing (NGS) technology is having a major impact on the medical field. NGS is a technology that can decipher DNA sequences faster and at lower cost than conventional sequencing technologies, and plays an important role in the diagnosis of diseases and the development of treatment methods.
In the future, it is expected that further technological innovations will enable real-time genetic analysis and more accurate disease prediction.
② Popularization of genetic testing and personalized healthcare
Genetic testing is becoming more and more common not only in medical institutions but also among the general public. Currently, the direct-to-consumer (DTC) genetic testing market is expanding, allowing individuals to easily take genetic tests at home.
DTC genetic testing is used in the following areas:
Health risk assessment : Assess your risk of cardiovascular disease, diabetes, cancer, etc. and take preventive measures.
Optimizing physical constitution and nutrition : Providing information on individual physical constitution such as metabolism, weight management, and exercise suitability.
Drug response analysis : predicting an individual’s response to a particular drug and assisting in appropriate drug selection.
3) Integration of genetic testing and artificial intelligence (AI)
Advances in artificial intelligence (AI) technology are enabling faster and more accurate interpretation of genetic analysis data. By using AI, it is possible to analyze vast amounts of genetic information, predict disease risk, and suggest optimal treatment options.
Furthermore, the drug discovery process using AI is also evolving, and technology is being developed to identify new therapeutic drug targets based on genetic information. This is expected to shorten the development time for new drugs and produce effective treatments for a greater number of diseases.
Social issues and future prospects for genetic testing
1) Ethical issues and legal restrictions regarding genetic information
As genetic testing becomes more widespread, issues regarding privacy protection and the misuse of genetic information are emerging. In particular, there are concerns that genetic information may be used for insurance and employment purposes, and legal regulations to prevent this are being established in various countries.
In the United States, the Genetic Information Nondiscrimination Act (GINA) has been enacted, which prohibits discrimination based on genetic information. In Japan, guidelines on the handling of genetic information have also been formulated, and ethical considerations are required.
As genetic testing continues to develop, it is likely that stricter rules will be needed regarding the scope of use and management of genetic information.
② The future and challenges of gene editing technology
With the development of gene editing technologies such as CRISPR-Cas9, it is becoming possible to correct diseases at the genetic level. This will not only allow for the treatment of hereditary diseases, but also the possibility of gene modification for disease prevention and physical improvement in the future.
However, gene editing presents challenges, including:
Safety issues : Unanticipated side effects and off-target effects from gene editing (risk of genes mutating in unintended sites).
Inequality issue : Gene therapy and gene editing technology are expensive, so only the wealthy may benefit.
To overcome these challenges, it is necessary to develop international rules and engage in ethical discussions as we advance technology.
3) Genetic testing and the future direction of medical care
It is expected that genetic testing will continue to evolve in the future and play an important role in all areas of medicine, especially in the following areas:
Advances in disease prediction and preventive medicine : Using genetic testing to accurately predict individual disease risks and provide early intervention.
Optimizing medical care with AI and big data : Integrating genetic information and medical data to improve the accuracy of personalized medicine.
As such, advances in genetic testing have the potential to dramatically change future medical care. However, at the same time, ethical issues and legal frameworks must be addressed, and development must be accompanied by a balance between technology and society.
Summary
Advances in genetic testing have led to early detection of diseases and advances in personalized medicine, expanding treatment options. However, privacy protection and ethical issues must be addressed. In the future, this technology may be combined with AI and gene editing technology to dramatically transform the future of medicine.
