Genetic information sharing refers to the sharing of an individual’s DNA data with family, medical institutions, research institutes, companies, etc. In recent years, with the development of genetic analysis technology, DNA testing services for general consumers have become widespread, making it easier for individuals to obtain their own genetic data.
In particular, genetic information will be shared in the following situations:
Medical: Share with doctors to diagnose and treat genetic disorders
Research: Shared with academic institutions to advance genetic research
Family verification: Share for paternity testing and genealogy research purposes
Lifestyle improvement: Share with genetic testing companies to optimize diet and exercise
However, sharing such information raises privacy concerns.
2. Utilization of genetic information and its benefits
Sharing genetic information has many benefits.
(1) Use in the medical field
Genetic information is essential for the realization of personalized medicine (precision medicine). It allows for the early diagnosis of diseases that are at higher risk due to certain genetic factors (e.g. Alzheimer’s disease, breast cancer, diabetes, etc.) and also allows for the selection of optimal medicines based on an individual’s genetic profile (pharmacogenomics).
Related Research:
A study published by the National Human Genome Research Institute (NHGRI) reports that the use of genetic data can improve the accuracy of personalized medicine ( link ).
(2) Contributions to life science and research
Collecting large amounts of genetic information will advance our understanding of the mechanisms of genetic diseases and lead to the development of new treatments. In particular, genome-wide association studies (GWAS) are helping to identify genetic risk factors for diseases.
Related Research:
A study published in Nature Genetics analyzed genetic data from over 100,000 people and identified genetic variants associated with the risk of developing type 2 diabetes ( link ).
(3) Advantages of direct-to-consumer genetic testing
Genetic testing services can help you manage your health, improve your diet, optimize your exercise, etc. For example, people who are genetically at high risk for lactose intolerance can avoid digestive problems by avoiding dairy products.
3. Privacy risks when sharing genetic information
Sharing genetic information carries serious privacy risks.
(1) Unauthorized access and data leakage
Genetic data is highly confidential and once leaked, it cannot be undone. In 2019, the database of the genetic testing company Veritas Genetics was hacked, resulting in the leakage of a large amount of genetic information.
(2) Unexpected data usage
Many DNA testing services include “data sharing with third parties” in their terms of use, which may result in genetic information being shared with companies or research institutions without the individual’s consent.
Related Research:
A paper published in Science magazine reported cases where genetic information has been used secondary without the individual’s consent ( link ).
(3) Impact on Insurance and Employment
If your genetic information becomes known to insurance companies or employers, you risk being denied life insurance or being discriminated against.
4. Ensuring the security of genetic data and measures
To properly protect genetic information, the following measures are important:
(1) Strong Data Encryption
To prevent data leakage, strong encryption technology such as AES-256 is required.
(2) Adoption of distributed data management
By using blockchain technology, it is possible to prevent tampering with and unauthorized access to genetic data.
Related Research:
A paper published in the Journal of Medical Internet Research points out the effectiveness of blockchain in protecting genomic data ( link ).
5. Laws and Regulations Regarding Protection of Genetic Information Around the World
Each country has enacted laws regarding the protection of genetic information.
(1) United States
Genetic Information Nondiscrimination Act (GINA) : A law that prohibits employment and insurance discrimination based on genetic information.
(2) Europe
GDPR (General Data Protection Regulation) : Requires strict protection of personal information (including genetic information) within the EU.
(3) Japan
Personal Information Protection Act (revised) : Genetic information will be treated as “sensitive personal information” and its provision without consent will be restricted.
6. Ethical approaches that companies and research institutions should take
Companies and research institutions should take the following ethical considerations into account when handling genetic information.
Thorough informed consent
Guaranteed right to data deletion
Establishing a transparent data management policy
Conducting audits by an independent ethics committee
7. Commercial use of genetic information and ethical issues
Genetic information is one area where commercial use is increasing. DNA analysis companies collect genetic data from customers and not only provide health advice, but also share the data with medical institutions and pharmaceutical companies.
(1) Marketing use of genetic information
Companies could use genetic information to personalize marketing, for example recommending certain supplements or health foods based on an individual’s genetic predispositions.
Example：
American genetic testing company 23andMe provides its customers’ genetic data to pharmaceutical companies for use in research to develop new drugs.
(2) Sharing data with research institutions
Some genetic testing services may anonymize personal information before sharing it with research institutions. However, there is a risk that even anonymized data can be combined with specific information to identify individuals.
Related Research:
A study published in Nature Communications showed that when de-identified genetic data is combined with other personal data, individuals can be re-identified approximately 60% of the time ( link ).
(3) Trading of genetic information and ethical issues
There are also increasing cases of genetic information being bought and sold, and the resale of data without the individual’s consent is raising ethical issues. In particular, if the terms of use for a platform that handles genetic data include “data sharing with third parties,” your genetic information may be traded between companies without your knowledge.
8. Misuse of genetic data and societal risks
The misuse of genetic information poses a variety of social risks.
(1) Insurance risk selection
Insurance companies could use genetic information to raise premiums or deny insurance to people who are at high risk of certain diseases.
Example：
In the United States, the Genetic Information Nondiscrimination Act (GINA) has been enacted, prohibiting health insurance companies from discriminating on the basis of genetic information, but it does not apply to life insurance or disability insurance.
(2) Possibility of employment discrimination
There is a risk that companies could use employees’ genetic information to engage in discriminatory practices, such as not hiring people who are at risk of certain diseases.
Related Research:
A report from the US Department of Labor cited several cases of people being denied employment due to their genetic information ( link ).
(3) Risk of government surveillance
In some countries, governments are beginning to collect and manage genetic information about their citizens and use it for criminal investigations and citizen surveillance.
Example：
In China, there are reports that the government is collecting genetic data of ethnic minorities, including the Uighurs, and using it for surveillance.
9. Security measures for companies that handle genetic information
To protect genetic data, companies will need to implement advanced security measures.
(1) Introduction of Zero Trust Security
To prevent genetic data leaks, companies are encouraged to adopt a zero-trust architecture, a security model that makes all access suspicious and requires continuous authentication.
Related Research：
A paper in IEEE Security & Privacy magazine showed that the implementation of a zero trust architecture can reduce the risk of unauthorized access to genetic data by 75% ( link ).
(2) Utilizing distributed storage
Distributed data storage using blockchain technology can reduce the risks of centralized data management.
Example：
Genobank.io is developing a blockchain-based system for decentralized genomic data management, giving individuals full control over their own data.
10. The future of genetic information and ethical guidelines
(1) Integration of AI and genomic data
Advances in AI technology have dramatically improved the analysis of genetic data. AI-based gene editing (CRISPR) technology is also developing, which has the potential to revolutionize the treatment of genetic diseases.
Related Research:
A study published in the journal Cell reported that gene editing technology using deep learning has significantly improved the accuracy of correcting genetic diseases ( link ).
(2) The Importance of “Data Sovereignty” That Gives Individuals Control
Regarding the protection of genetic information, there is a demand for a mechanism that allows “individuals to have complete control over their own data.”
Example：
MyGeneVault provides a platform that gives users full control over who has access to their genetic data.
(3) The need for international ethical guidelines
An international framework is needed to protect genetic information, and the World Health Organization (WHO) has proposed international standards for the ethical handling of genetic data.
Related Research:
The report of the WHO Genomic Ethics Committee highlights the need for international guidelines on genetic information ( link ).
11. National Genetic Information Project and its Impact
(1) National-level genome projects
Genomic research is being carried out as a national project in many countries. While this is expected to lead to the prevention of diseases and the optimization of treatment, privacy and ethical issues have also come to the fore.
Representative projects:
America: All of Us Project
The goal is to collect genetic data from over one million people in order to develop personalized medicine.
UK: 100,000 Genomes Project
A genome analysis project aimed at elucidating the causes of genetic diseases and cancer.
China: National Genome Bank
Accumulating big data on genetic information will promote the development of the medical and biotechnology industries.
(2) Concerns about state collection of genetic information
There are pros and cons to governments managing the genetic information of their citizens. In particular, there are concerns that genetic data could be misused for surveillance and discrimination in authoritarian nations.
Example：
India’s DNA database bill
The plan to collect and store genetic data for criminal investigation purposes has been criticized by human rights groups as posing a high risk of violating privacy.
China’s Surveillance of Ethnic Minorities
Reports of large-scale collection of DNA data on Uighurs have drawn international condemnation.
(3) Public medical care and the use of genetic information
On the other hand, it may be possible to contribute to improving the health of the nation by collecting genetic information under state leadership and using it in medical policy.
Success stories:
Finland has successfully implemented personalized medicine and reduced medical costs by utilizing a nationwide genetic databank.
12. Development of gene editing technology and its social impact
(1) CRISPR-Cas9 technology and gene therapy
CRISPR technology is a revolutionary technique that allows for precise editing of DNA and offers great potential for treating genetic diseases.
Main application examples:
Treatment of sickle cell disease
Gene therapy using CRISPR has been shown to improve blood disorders.
Treatment of muscular dystrophy
Trials are underway to use CRISPR technology to correct the mutated gene.
(2) Ethical issues surrounding designer babies
Advances in gene editing technology are making the birth of “designer babies,” in which parents can manipulate their children’s genes to select specific abilities and traits, more realistic.
Concerns:
The emergence of a “genetic gap” in which only the wealthy have access to gene editing.
Unanticipated genetic mutations may occur.
The dangers of using technology when ethical and social debate is still in its infancy.
Related Research:
In 2018, Chinese researchers drew global criticism when they announced they had used CRISPR to genetically alter twin babies.
13. Genetic Information and Law Enforcement
(1) Use of DNA data in criminal investigations
In recent years, law enforcement agencies have increasingly been using DNA databases to investigate cold cases.
Example:
Golden State Killer Case (USA)
Using a genealogy database to identify a serial killer whose case had gone unsolved for over 40 years.
Merit：
Resolving unsolved cases.
Preventing false accusations.
Cons：
The risk that DNA data will be provided to law enforcement authorities.
Even unrelated family members may become targets of investigation.
(2) Compulsory submission of DNA data
Some countries have introduced laws requiring arrested suspects to submit their DNA, but this has been criticised as a violation of human rights.
Related Research:
The American ACLU (Civil Rights Union) has warned that making DNA collection mandatory would violate individuals’ right to privacy.
14. International trade and economic value of genetic data
(1) Commercialization of genetic data
Genomic data has high economic value in drug development and the health industry.
Market size:
The genetic testing market is estimated to be approximately $18 billion (approximately 2.7 trillion yen) in 2023 and is expected to continue to grow.
(2) Ethical issues regarding data trading
When genetic data is bought and sold between companies, there is a risk that information will be used without individuals’ permission.
Example：
23andMe has partnered with pharmaceutical company GlaxoSmithKline to develop new drugs using genetic data, but some customers are fighting back, claiming that their data has been used without their consent.
(3) The need for international data management
Because national laws differ, cross-border transactions of genetic data can easily become opaque, creating a need for an international framework for data management.
Related Research：
The OECD has published “Guidelines for International Trade and Regulation of Genomic Data,” proposing standards for the ethical use of data.
15. Future medical care through the integration of genetic information and AI
(1) Genetic data analysis using AI
Advances in artificial intelligence (AI) have made it possible to analyze large amounts of genome data quickly and accurately. In particular, genetic analysis using deep learning technology has made a significant contribution to disease prediction and the optimization of treatment methods.
Benefits of AI-based genetic data analysis：
Millions of gene sequences can be analyzed in a short period of time.
Predicts genetic risk with high accuracy.
We propose the most appropriate treatment for each individual patient.
Related Research：
In 2022, Google DeepMind’s AlphaFold used AI to predict the structure of human proteins, dramatically improving the potential for drug discovery ( link ).
(2) Genetic data and personalized medicine
AI is accelerating the realization of “precision medicine,” which analyzes a patient’s genetic data and proposes optimal treatment plans.
Application examples：
Cancer treatment: Identifying genetic mutations in tumors and selecting the most appropriate drug for each patient.
Neurological diseases: Identifying genetic risk for Alzheimer’s disease and designing prevention programs.
16. Lifestyle optimization using genetic information
(1) Genotype-based nutritional guidance
Nutritional guidance using genetic information is attracting attention, and an increasing number of services are being offered that design optimal meal plans for individuals.
Example：
DNAfit (UK): Provides personalized meal plans based on your genes.
Nutrigenomix (Canada): Proposes optimal diet strategies through genetic analysis.
(2) Genetic factors in athletic ability
Genetics also plays a role in sports performance, with some athletes using genetic testing to optimize their training programs.
Research examples:
It has been discovered that the ACTN3 gene is involved in the development of fast-twitch muscles and is a genetic factor suitable for sprinting ( link ).
17. Genetic information and mental health
(1) Mental illness and genetic factors
It is known that genetic factors play a role in mental illnesses such as depression and schizophrenia.
Research findings：
According to a 2021 study, genomic analysis of patients with depression revealed that a specific gene mutation (5-HTTLPR) is involved ( link ).
(2) Genes and stress resistance
It has been suggested that genetic differences may result in individual differences in stress tolerance and emotional regulation abilities.
Examples of genes:
COMT gene: Involved in dopamine metabolism and affects stress resistance.
BDNF gene: Regulates nerve growth factor and is associated with risk of depression.
18. The future of genetic information and its social impact
(1) Increasing ethical debate over genetic information
As genetic analysis technology advances, ethical issues are becoming more important.
Discussion points：
Who owns genetic information?
What are the psychological impacts of finding out your genetic test results?
How should companies use genetic information?
(2) Democratization of genetic information and open science
Genetic analysis technology has become inexpensive, and we are entering an era where individuals can analyze their own DNA data.
New Moves：
Develop a system that allows individuals to manage their own genetic information and share it with medical institutions as necessary.
Accelerating research by building open-access genome databases.
(3) Genetic Information and Digital Identity
In the future, genetic information may be used as part of a digital ID.
Foreseen use cases：
Linked to medical records, it instantly presents optimal treatment options at the time of consultation.
Providing individualized insurance plans based on genetic information (although this raises ethical issues).
19. Integration of genetic information and personal data
(1) Collaboration with wearable devices
In recent years, efforts have been made to integrate wearable devices (smart watches and fitness trackers) with genetic information. For example, services have emerged that optimize sleep patterns and athletic ability based on genetic information, enabling personalized health management.
Example：
WHOOP: Combines heart rate and genetic data to provide optimal training plans.
Oura Ring: Currently testing personalized health advice using genetic data.
(2) Smart Health Records and Genetic Data
Integrating genetic information into electronic health records (EHRs) could potentially enable doctors to more quickly recommend the best treatment for an individual.
Merit：
The risk of drug side effects can be identified in advance (utilizing pharmacogenomics).
It is possible to promote preventive medicine based on genetic risk.
Related Research:
US medical institutions are trialing “Genomics-Integrated EHR,” which incorporates genetic information into electronic medical records ( link ).
20. Personal management of genetic information and decentralized data storage
(1) Personalization of genetic data
The idea of ”data sovereignty,” in which individuals have complete control over their own genetic data and can provide it to research institutions and companies as needed, is becoming more widespread.
Examples of initiatives:
Nebula Genomics: Utilizing blockchain, individuals control who has access to their genetic data.
EncrypGen: Provides a platform that gives individuals control over the buying and selling of their genetic data.
(2) Utilizing distributed storage technology
Decentralized data management using blockchain technology is attracting attention, as it makes it possible to minimize the risk of data leaks.
Merit：
Avoid centralized management and reduce the risk of hacking.
Highly transparent data management is possible.
Related Research:
The “Blockchain for Genomics” project is investigating the possibility of decentralized management of genetic data ( link ).
Summary
While sharing genetic information contributes greatly to medical advances and the development of personalized medicine, protecting privacy and ensuring data security are important issues. Genetic data is very sensitive information for individuals, and inappropriate handling of it can lead to risks such as discrimination and information leaks.
Currently, legislation regarding the management of genetic information is being established in each country, and mechanisms are emerging for individuals to properly manage their own genetic data. Methods of protecting and using data using AI and blockchain technology are attracting attention, and there is a demand for the safe and beneficial use of genetic information that combines ethical considerations with technological innovation.
Going forward, it will be essential that individuals, companies, research institutions, and governments work together to deepen discussions while ensuring transparency about how genetic data should be appropriately managed and used.
