With the evolution of genetic testing, genetic testing of children is gaining attention in the fields of medicine and personalized medicine. However, in addition to medical benefits, this comes with ethical, legal, and social challenges. In this article, we will delve into the ethical aspects of genetic testing of children and consider the pros and cons of doing so and the impact it will have.
1. Types of Genetic Testing for Children
There are many different types of genetic tests, and how they are applied to children varies depending on the purpose.
a. Genetic testing for diagnostic purposes
The test is used in children who already have symptoms to identify disease-causing genetic mutations, which can be useful in diagnosing rare and genetic diseases, allowing for the selection of appropriate treatments and early intervention.
b. Predictive genetic testing
This test is used to assess the risk of diseases that may occur in the future. For example, it can determine the risk of diseases that may occur in adulthood, such as cancer and Alzheimer’s disease. However, knowing the risk of diseases for which there is no established treatment can be a psychological burden.
c. Carrier testing
Testing to determine whether a child carries a specific gene mutation is useful for future family planning and risk assessment of genetic diseases, for example to identify carriers of cystic fibrosis (CF) or sickle cell disease (SCD).
d. Prenatal and newborn screening
Prenatal testing is testing to determine whether the fetus has a particular genetic disorder, while newborn screening is done immediately after birth to identify metabolic disorders and genetic diseases, typically with the aim of early treatment or prevention.
2. Ethical Issues
While genetic testing of children has medical benefits, it also raises ethical concerns.
a. Ensuring the best interests of the child
When conducting genetic testing for children, the first priority should be the “best interests of the child.” In particular, diagnostic testing for treatable diseases is considered to be something that should be actively performed, as the medical benefits are clear. On the other hand, predictive testing for diseases that develop after adulthood and have no established treatments may increase psychological burden, so careful consideration is required.
b. Children’s right to self-determination and future options
The results of genetic testing may have lifelong effects. Therefore, care must be taken to ensure that children are not denied the opportunity to undergo genetic testing of their own volition when they reach adulthood. In particular, it is considered ethically advisable to postpone testing for diseases that develop in adulthood until the individual is old enough to make appropriate decisions.
c. Privacy and Data Protection
Genetic information is highly personal data and carries the risk of inappropriate use or leakage. Appropriate data management is required to ensure that children’s genetic information does not lead to discrimination or disadvantage in the future. Many countries have laws that protect genetic information as personal information, but with the spread of Direct-to-Consumer (DTC) genetic testing, new legislation is needed.
3. Impact on families and information sharing challenges
The results of a genetic test can have an impact not only on the child but on the entire family.
a. Psychological impact on family members
Some genetic test results can cause anxiety and stress for family members, particularly if they reveal an increased risk of a genetic disease, which can affect family relationships.
b. Scope of information sharing and consent issues
The extent to which genetic information should be shared within a family requires careful consideration. For example, if a child’s genetic test results indicate a risk of disease in relatives, the extent to which that information should be disclosed becomes an issue.
4. The Importance of Genetic Counseling
When undergoing genetic testing for your child, proper counseling from an expert is essential.
a. Pre-test counselling
We provide a thorough explanation of the significance of the test, how to interpret the results, and the psychological and social impact, and help families make an appropriate decision about whether or not to undergo the test.
b. Follow-up after the examination
If the test results are positive, we will provide appropriate treatment and lifestyle management advice and support families to respond appropriately.
5. Legal and Social Issues
a. Risk of discrimination based on genetic information
It has been pointed out that genetic information may limit access to education, insurance, and employment opportunities. Many countries have laws in place to prevent discrimination on the basis of genetic information, but some countries do not provide sufficient legal protection.
b. Use of genetic information by companies
With the spread of DTC genetic testing, there are more and more cases where consumers provide their genetic information to companies. However, proper regulation is needed to determine how this data is used.
6. The future of genetic testing and future prospects
It is expected that genetic testing technology for children will continue to evolve, enabling more accurate risk prediction and personalized medicine. However, careful consideration of ethical and legal issues is required. Appropriate regulations and enhanced counseling will lead to the effective use of genetic testing.
(References)
Japanese Society of Genetics “Genetic Testing Guidelines” https://www.jhg.jp/
7. Genetic testing and its impact on mental health
Genetic testing can have a significant psychological impact on the child and their family. The risks and uncertainty of the test results can cause anxiety and stress, so careful consideration is required.
a. Psychological burden of genetic testing
When genetic test results indicate a future disease risk, it can place a mental burden on children and their families. In particular, when the results indicate a risk of a disease for which no treatment has been established, children may continue to live with the anxiety that they may develop the disease in the future.
For example, knowing that a child is at risk for an adult-onset disease, such as Huntington’s disease or Alzheimer’s disease, can place psychological pressure on the child and affect their quality of life.
b. Psychological impact on parents and decision-making difficulties
Parents must decide whether or not to have their children undergo genetic testing, which comes with a big responsibility. If the test results indicate a risk of disease, parents may be faced with the dilemma of how to respond and how to communicate this information to their children.
Particularly when genetic test results affect multiple family members (for example, when finding a hereditary cancer risk), an important issue is how to share the information among relatives.
c. Impact on Children’s Mental Development
Genetic test results may affect a child’s self-perception and identity. For example, it has been pointed out that the awareness that “I may become ill in the future” can have a negative impact on a child’s self-confidence and mental health.
To avoid these problems, parents should consider the option of postponing testing until their children are older and able to understand their genetic information.
8. Genetic testing and its social impact
The results of genetic testing may also affect a child’s future social life, with particular concern regarding the impact on education, career choices, insurance coverage, and other areas.
A. Impact on education and career
The results of genetic testing may affect a child’s educational path and career choices. For example, research is currently being conducted that links certain gene mutations to learning and athletic ability, and there is even the idea of using genetic information to determine educational methods.
However, it is considered ethically problematic to restrict educational opportunities based on genetic information. All children should be given equal educational opportunities, regardless of their genetic background.
b. Use of genetic information in insurance and employment
Genetic information could be used in life and health insurance contracts and even in employment. For example, if you are determined to be at high risk of a certain disease, your insurance premiums could be higher or you could be denied coverage.
To address this issue, the United States enacted the Genetic Information Nondiscrimination Act (GINA), which prohibits discrimination on the basis of genetic information in employment and health insurance. However, in many countries, including Japan, legal protection of genetic information is still insufficient, and this remains an issue for the future.
9. Problems with Direct-to-Consumer (DTC) Genetic Testing
In recent years, DTC genetic testing has become widespread, allowing consumers to undergo genetic testing directly without going through a medical institution. While this is highly convenient, ethical and scientific issues have been raised.
a. Uncertainty of scientific evidence
DTC genetic testing generally presents the risk of certain diseases as “high” or “low,” but these predictions are not always accurate. Disease risk is greatly influenced not only by genetic factors, but also by environmental factors and lifestyle habits, so there are limitations to simple risk assessment.
b. Lack of medical follow-up
Because DTC genetic testing is not conducted through medical institutions, medical follow-up after receiving the test results is often insufficient. In particular, if a person is found to be at risk for a genetic disease, they may end up living with anxiety if they do not receive appropriate counseling.
c. Risks of managing personal information
The handling of data by companies offering DTC genetic tests has also come under scrutiny. Consumers need to be careful when choosing a company, as there is a risk that genetic information may be sold to third parties or improperly managed.
10. The future of genetic testing and new technologies
Genetic testing technology is evolving every day, and it is expected that accuracy will improve in the future, making it possible to predict even more disease risks.
a. AI-based genetic analysis
Artificial intelligence (AI) is enabling more precise genetic analysis. AI is analyzing millions of pieces of genome data, helping to discover new disease risks and advance personalized medicine.
b. Gene editing using CRISPR technology
Advances in CRISPR-Cas9 technology have made it possible to correct specific genetic mutations, which could revolutionize the treatment of genetic diseases but also raise ethical questions.
c. Research on epigenetics and environmental factors
Advances in epigenetics research are helping to clarify not only genetic information but also the influence of environmental factors on gene expression. This is expected to enable more personalized health management that takes into account lifestyle habits and environmental factors.
Advances in genetic testing are having a major impact on the fields of medicine and life sciences. However, there are many ethical, legal, and social issues that require careful consideration. In the future, it will be essential to establish appropriate regulations and improve counseling systems as technology continues to develop.
11. Genetic testing and parental decision-making dilemmas
The decision to have their children undergo genetic testing is a difficult one for many parents, and they must make the best decision by weighing the ethical and medical benefits against the risks.
a. Parental expectations and fears
Parents consider genetic testing because they want to protect their children’s health, but knowing the risks that the test results may indicate may actually increase their anxiety.
For example, if parents find out that their child is likely to develop cancer in the future, they will be concerned about how they should respond. In many cases, there is no clear answer as to whether they should intervene immediately or wait until the child grows up.
b. How to interpret the test results
The results of genetic testing are not definitive, but merely indicate a “possible risk.” However, some parents tend to take the results too seriously and may impose excessive restrictions on their children.
For example, if an obesity-related gene mutation is detected, there is concern that parents may become overly strict with their child’s diet and exercise, which could have a negative impact on their child’s self-esteem and mental health. In such cases, careful consideration is required regarding how to use the information from genetic testing.
c. Issues of fairness between siblings
Genetic testing may also lead to differences in how siblings are treated: for example, if one sibling is at risk for a particular disease and the other is not, parents may respond differently.
Such situations can cause tension in family relationships, so it is important to develop a proper understanding among the whole family, for example through genetic counselling.
12. Genetic testing and lifestyle optimization
In recent years, genetic testing has been used not only to assess disease risk but also to optimize health management and lifestyle.
a. Genes and Nutrition (Nutrigenomics)
Nutrigenomics is a field that deals with personalized nutritional management based on genetic information. For example, it is known that the following genetic factors affect dietary habits:
Mutations in the LCT gene → High risk of lactose intolerance, and may need to avoid dairy products
Mutations in the FTO gene → High risk of obesity, so proper calorie management is important
Mutations in the CYP1A2 gene → Some people have different rates of caffeine metabolism and are more susceptible to the effects of caffeine
By utilizing a child’s genetic information, it is possible to propose optimal dietary habits for each child. However, it is important to consider lifestyle and environmental factors rather than relying solely on genetic information.
b. Genes and exercise (sports genomics)
Sports genomics is a field that designs optimal exercise programs based on genetic information. For example, the following genes are related to athletic ability:
Mutations in the ACTN3 gene affect explosive power and determine suitability for sprinting and strength training
Mutations in the PPARGC1A gene → Involved in endurance, determines whether a person is suited to marathons or long-distance cycling
Using this information, you can help choose the right sport for your child and improve their performance.
c. Genes and sleep
Genetic information is also known to affect the quality and duration of sleep needed. For example, people with mutations in the DEC2 gene tend to be able to function adequately with short periods of sleep, while people with mutations in the CLOCK gene are at higher risk of sleep disorders.
Understanding a child’s sleep patterns through genetic testing can help establish more effective sleep habits.
13. The ethical future of genetic testing
As genetic testing technology evolves, new ethical challenges arise.
a. Gene editing technology and the issue of “designer babies”
Gene editing using CRISPR-Cas9 technology may one day make it possible to prevent disease and even create children with desirable traits. However, this is a highly ethical and controversial topic and has come under scrutiny as the issue of “designer babies.”
For example, whether parents should be allowed to edit their children’s genes for reasons such as “improving athletic ability” or “intelligence” requires careful discussion throughout society.
b. Commercial Use of Genetic Information and Privacy
As companies increasingly collect genetic information from consumers and use it for marketing and product development, stricter regulations will likely be required in the future to prevent the risk of genetic data being used without individuals’ permission.
c. The evolution of medicine and personalized medicine
The widespread use of genetic testing has the potential to realize more precise personalized medicine. For example, technology is being developed that combines genomic analysis with AI to rapidly suggest optimal treatments for individual genes.
Furthermore, as research into epigenetics progresses, it is believed that medical treatment that takes into account changes in gene expression due to environmental factors will become possible, which is expected to lead to advances in integrated health management, including improvements in lifestyle habits.
Genetic testing contributes to medical advances, but at the same time brings about new ethical and social issues. Future technological developments and regulatory arrangements will require a balanced use of genetic testing to protect children’s health and welfare.
14. Current status of genetic testing and legal regulations
As genetic testing becomes more widespread, legal regulations are being established in each country. The handling of genetic information requires careful consideration from the perspective of protecting privacy and preventing discrimination.
a. The US Genetic Information Nondiscrimination Act (GINA)
In the United States, the Genetic Information Nondiscrimination Act (GINA) was enacted in 2008. This law prohibits discrimination based on genetic information, such as:
Employment decisions regarding hiring, promotion, and dismissal
Enrolling in health insurance and setting premiums
However, because GINA does not apply to life or disability insurance, there are still concerns that genetic information could affect insurance contracts.
b. Europe’s General Data Protection Regulation (GDPR)
In the EU, the General Data Protection Regulation (GDPR), which came into effect in 2018, strictly regulates the handling of genetic information.
Genetic data will be treated as “special category personal data”
Companies and medical institutions cannot use genetic information without the individual’s explicit consent.
Measures to protect genetic information will be strengthened, and heavy penalties will be imposed for violations.
Due to the influence of GDPR, regulations on direct-to-consumer (DTC) genetic testing are becoming stricter in Europe.
c. Japanese laws and regulations regarding genetic information
In Japan, there is no clear law to protect genetic information, and measures are being taken within the framework of the Personal Information Protection Act. However, the Ministry of Health, Labor and Welfare and the Japanese Medical Association have formulated guidelines, which include the following:
Genetic testing is only recommended if there is clear medical significance
Mandatory genetic counseling is desirable
Providing genetic information to third parties requires careful consideration
It is expected that Japan will also see progress in establishing laws regarding the handling of genetic information in the future.
15. Genetic testing and cultural and ethical perspectives
Perceptions of genetic testing vary depending on culture and values.
a. Religious and philosophical perspectives
Religious and philosophical beliefs vary in the acceptability of genetic testing.
Catholics : Take a cautious stance on prenatal testing and gene editing
Islam : Genetic testing is more acceptable, but ethical issues are sometimes debated.
Buddhism : There is a belief that we should accept our destiny, and there are also cautious opinions regarding genetic intervention
b. Handling genetic information as a human rights issue
The handling of genetic information is deeply connected to human rights issues. Genetic test results can affect opportunities for employment, education, marriage, and so on, so they must be handled with care.
Some cultures decide whether or not people can marry based on genetic information.
The use of genetic information by insurance companies and other companies could become a social issue.
To address these issues, international ethical guidelines are being developed.
Summary
Genetic testing of children, along with medical developments, also brings with it ethical and social issues. It is important to respect the right to self-determination and privacy while ensuring the best interests of the individual. While the use of genetic information leads to personalized medicine and improved health management, there are also concerns about discrimination and data management issues. There is a need to advance international legal developments and ethical discussions in order to realize fair and sustainable genetic medicine.
