In recent years, the number of services that utilize personal genetic information has increased, but security and privacy concerns regarding the storage and management of this information are growing. This article provides a detailed explanation of the issues and solutions regarding the storage and management of genetic information.
1. Characteristics and Importance of Genetic Information
Genetic information contains a lot of sensitive information, such as an individual’s health status, disease risk, and family history. This information can affect not only the individual but also their family and descendants, so it needs to be properly protected.
Storing genetic information presents privacy risks, including:
Data leakage: There is a risk that genetic information may be leaked due to unauthorized access or cyber-attacks.
Potential for re-identification: Even de-identified data may be able to identify you if combined with other information。 myriadgenetics.jp
Discrimination concerns : There is a risk that genetic information could be used to unfairly discriminate in insurance and employment. jstage.jst.go.jp
3. Legal Framework and Guidelines
Each country has established legal frameworks and guidelines for the protection of genetic information. For example, in Japan, the Personal Information Protection Act applies and guidelines for the handling of genetic information have been established. In addition, the state of California in the United States has passed the Genetic Information Privacy Act (GIPA), which strengthens regulations on consumer genetic testing companies. mhlw.go.jp www2.deloitte.com
4. Technical measures for the safe storage and management of genetic information
The following technical measures are being considered to ensure the safe storage and management of genetic information:
Introduction of secure computing technology: Technology has been developed to analyze genome information held by multiple research institutions while keeping it secret, and efforts are underway to balance the protection of personal information with the advancement of research .
Utilizing Privacy Tech: Privacy Tech, a technology that balances privacy protection and data utilization, is attracting attention and is expected to be a mechanism for gaining the trust of information providers. jpma.or.jp
5. Balancing data sharing and security
Sharing genetic information is essential for the development of medical care and research, but it is important to strike a balance with protecting privacy. Appropriate measures such as obtaining consent from information providers, anonymizing data, and controlling access are required. jpma.or.jp
6. Use of genetic information and ethical issues
Genetic information is used in a variety of fields, including medicine, research, personalized medicine, and criminal investigations, but ethical issues and social impacts must also be carefully considered.
① Use in medical care and research
Genetic information is making a significant contribution to the assessment of disease risk and the development of personalized medicine. For example, in cancer treatment, it is now possible to analyze a patient’s genetic mutations and select the most appropriate molecular targeted therapy.
a. Personalized medicine using genetic information
BRCA1/BRCA2 gene mutations: Used to assess the risk of breast and ovarian cancer and to select appropriate screening and prevention measures.
CYP2C19 gene polymorphism: Predicts the effectiveness of the antiplatelet drug clopidogrel and supports appropriate use of the drug.
These technologies form the basis of “precision medicine,” which provides optimal treatment for each patient.
b. Genomic research and disease risk assessment
Genome-wide association studies (GWAS) are used to analyze genetic risks for multifactorial diseases such as diabetes and Alzheimer’s disease.
APOE ε4 allele: May increase the risk of developing Alzheimer’s disease.
TCF7L2 gene: Involved in the risk of developing type 2 diabetes.
Utilizing these findings will enable disease prevention and early detection.
② Criminal investigations and the use of genetic data
Genetic information is also used in criminal investigations, and DNA typing in particular plays an important role in identifying suspects and proving wrongful convictions.
a. Use of genetic data in criminal investigations
CODIS (Combined DNA Index System) : A DNA database operated by the FBI in the United States. It is used to identify suspects by matching DNA collected at crime scenes.
GEDmatch : There have been cases where a consumer DNA database has been used in criminal investigations, sparking ethical debate.
While using DNA data in criminal investigations is effective in solving crimes, there are concerns that it may pose a risk of violating privacy.
b. Genetic information and the risk of false arrest
Although DNA typing is highly accurate, there is a risk of mistaken arrest due to testing errors or improper data management. There is also the risk of human rights violations due to the misuse of genetic data, so careful operation is required.
7. Commercial Use of Genetic Information and Privacy Concerns
In recent years, direct-to-consumer (DTC) genetic testing services have rapidly spread, making it easy for individuals to obtain their genetic information. However, this has also raised concerns about the commercial use of genetic information and privacy.
① DTC genetic testing and data management
DTC genetic testing is a service that allows individuals to obtain genetic information without going through a medical institution. Representative companies include 23andMe and AncestryDNA.
a. Advantages of DTC genetic testing
Ancestry analysis and health risk assessment are possible.
It is easy to use and is useful for personal health management.
b. Risks of DTC genetic testing
Secondary use of data: Genetic information may be shared with pharmaceutical companies and research institutions.
Risk of privacy violation: There is a risk of personal information being leaked due to data leaks or hacking.
In particular, there are concerns that genetic data could be misused in insurance and employment situations, and legal regulations are being called for.
(ftc.gov)
② Trading of genetic information and ethical issues
Some companies anonymize genetic data and share it with third parties for research or marketing purposes.
a. The commercialization of genetic information
23andMe partners with pharmaceutical companies to use genetic data to develop new drugs.
AncestryDNA has built a business model that analyzes genetic data and delivers personalized advertising.
b. User consent and transparency
Sharing genetic information requires clear consent and transparency regarding the purpose of use. It is important for consumers to carefully check how their data is being handled.
While the use of genetic information contributes greatly to the development of medicine and research, it also comes with many challenges, including criminal investigations, commercial use, privacy issues, etc. In the future, it will be necessary to strengthen legal regulations and data management in order to balance the appropriate use of genetic information with the protection of individual privacy.
8. International Regulation of Genetic Information and Data Protection Initiatives
Regulations regarding the protection and management of genetic information vary greatly from country to country. As the use of genetic data expands, efforts are underway to establish international frameworks.
① Protection of genetic information in Europe (GDPR)
In the EU, the General Data Protection Regulation (GDPR) came into effect in 2018, requiring genetic information to be strictly managed as a “special category of personal data.”
a. Main points of the GDPR
Obtaining explicit consent: Users’ explicit consent is required before genetic data is processed.
Right to data deletion (right to be forgotten) : Individuals can have their genetic information deleted from the database if they wish.
Restrictions on data transfer : Appropriate safeguards are required for the transfer of genetic information outside the EU.
The introduction of GDPR has resulted in stricter regulations on the handling of genetic information in EU member states and increased transparency on how companies collect and store data.
In the United States, the Genetic Information Nondiscrimination Act (GINA) was enacted in 2008, prohibiting the use of genetic information to discriminate in employment or health insurance.
a. Main contents of GINA
Prohibition of employment discrimination: Companies are prohibited from collecting employees’ genetic information and using it in decisions about hiring, promoting, or firing employees.
Preventing discrimination in health insurance: Prohibits insurance companies from refusing to cover you or changing your premiums based on your genetic information.
However, because GINA does not apply to life insurance or long-term care insurance, concerns remain that genetic information could be used to screen for these products.
③ Japan’s Personal Information Protection Act and the status of genetic information
In Japan, the Personal Information Protection Act (PIPA) regulates the handling of genetic information, but it does not contain as detailed provisions as GDPR or GINA, and currently it relies heavily on the guidelines of each company.
A. Issues in Japan
Standards for handling genetic information are unclear: There are no clear provisions for “special category data” like in the GDPR.
Lack of regulation of DTC genetic testing: As the number of consumer genetic testing services increases, there is a lack of transparency regarding data management.
In order to prevent the misuse of genetic information, stricter legal regulations are also being called for in Japan.
9. Anonymization of genetic information and data security measures
In order to safely store and manage genetic information, data anonymization and advanced security measures are essential.
① Technology for anonymizing genetic information
De-identification is a key process to ensure genetic information is not linked to individuals.
a. Pseudonymization
Names and addresses that directly link genetic information to individuals will be removed and a temporary identifier will be assigned.
It is used to protect privacy when research institutions and medical institutions share genetic information.
b. Complete anonymization
Permanently remove any personally identifiable information from the dataset so that it cannot be restored.
Under the GDPR, completely anonymized data does not qualify as “personal data” and can be used freely.
However, even with anonymized data, there is a risk that individuals can be reidentified by combining multiple pieces of information, so it must be handled with care.
Because genetic information is highly personal information, it is an easy target for cyber attacks and requires strict security measures.
a. Data Encryption
When genetic information is stored and transmitted, it is encrypted using AES (Advanced Encryption Standard) or SSL/TLS to prevent unauthorized access.
b. Implementing Multi-Factor Authentication (MFA)
When accessing genetic information, biometric authentication (fingerprint, facial recognition) or one-time password (OTP) will be required in addition to a password to prevent unauthorized login.
c. Distributed data management (Blockchain)
In order to prevent the tampering or misuse of genetic information, decentralized data management using blockchain technology is attracting attention.
Utilizing these technologies will strengthen the security of genetic information and enable safe data management.
The protection and management of genetic information requires strengthening legal regulations, anonymization technology, and cybersecurity. It is necessary to promote the safe use of genetic information while ensuring individual privacy through international regulations and the use of the latest technology.
10. Issues regarding distribution of genetic information and data sharing
Genetic information is extremely valuable data in medical care and research, and data sharing is progressing among research institutes and companies around the world. However, at the same time, issues have arisen regarding the distribution and management of data.
① Current status of international data sharing of genetic information
Currently, several international organizations are promoting the sharing of genetic data, creating an environment in which more researchers can utilize genetic information.
a. International Genomics Consortium (IGC)
A project in which research institutions around the world collaborate to share genome data.
It will be used in research into cancer and rare diseases, promoting the development of new treatments.
b. GA4GH (Global Alliance for Genomics and Health)
An international organization whose objectives are standardization and data sharing of genetic information.
Aiming to achieve both privacy protection and effective use of data, we have developed guidelines for anonymization technology and access management.
These efforts have promoted the sharing of genetic data on a global scale, contributing to the advancement of medical research.
As the distribution of genetic information increases, the risk of data misuse or unauthorized use also increases.
a. Commercial use of genetic information and ethical issues
Some companies may share the data they collect from direct-to-consumer genetic tests with pharmaceutical companies and insurance companies.
The risk that insurance premiums are determined based on genetic information
Targeted advertising and marketing
In particular, if consumers do not fully understand how their data is being used, there is a risk that their information may be used without their consent, so transparency is required.
In recent years, the risks of biohacking (the act of modifying or misusing genetic information) have been pointed out.
Illegal manipulation using genome editing technology (CRISPR)
Leakage of genetic information through cyber attacks
In particular, there is a possibility that genetic information may be misused for bioterrorism or illegal human modification, so strict regulations are necessary.
11. The future of genetic information and ethical issues
As genetic information becomes more widely used, ethical issues and societal impacts must be considered.
① Evolution of gene editing technology and ethical debate
Gene editing technology (CRISPR-Cas9) is being increasingly used to treat diseases and in the agricultural sector, but ethical issues regarding human genetic modification are being debated.
a. The issue of gene editing of embryos and “designer babies”
In 2018, Chinese scientists drew international criticism after using CRISPR technology to produce HIV-resistant twin babies.
There are concerns that if gene editing is legalized, it could lead to genetic manipulation for the purpose of “enhancing capabilities.”
b. Regulation of gene editing and international frameworks
The World Health Organization (WHO) has formulated guidelines banning gene editing of human embryos.
Each country is strengthening ethical review standards and establishing strict monitoring systems.
Advances in gene editing technology have the potential to transform the future of medicine, but the scope of their use requires careful discussion.
② Widening social disparities due to genetic information
Genetic testing and personalized medicine have the potential to widen the healthcare gap between countries and regions that can provide advanced medical technology and those that cannot.
a. “Health Disparities” Based on Genetic Information
In developed countries, early diagnosis and personalized medicine using genetic testing are becoming widespread.
In developing countries, disease risk management is difficult because people cannot undergo expensive genetic testing.
b. “Genetic Discrimination” in Insurance and Employment
The possibility that people with certain disease risks may be at a disadvantage in the job market.
The risk that genetic information may affect the terms of a life or health insurance contract.
While utilizing genetic information can improve the quality of medical care, it may also give rise to new social issues. Policies are needed to ensure equitable access to medical care.
As the use of genetic information advances, data distribution, the risk of misuse, and ethical issues are becoming increasingly intertwined. How to balance the development of international regulations with technological advances will be an important issue going forward.
12. Utilization of genetic information and integration of artificial intelligence (AI)
In recent years, the analysis of genetic information using artificial intelligence (AI) has progressed rapidly and is being used in the fields of medicine, research, pharmaceuticals, and personalized medicine. However, at the same time, safety and ethical issues regarding the genetic information processed by AI have also emerged.
① Advances in genetic information analysis using AI
Conventional genetic analysis mainly involves evaluating specific gene mutations one by one, but advances in AI technology have made it possible to analyze large amounts of genome data quickly and with high accuracy.
a. Disease risk prediction using AI
Machine learning model predicts risk of multifactorial diseases
AI can calculate risk scores for Alzheimer’s disease, diabetes, and other conditions based on genome-wide association study (GWAS) data.
Polygenic Risk Score (PRS) is used to assess an individual’s risk of disease.
DeepVariant (Google’s AI model）
An AI model that detects genetic mutations with high accuracy from genome sequencing data.
It is increasingly being used in medical institutions and research institutions.
b. Collaboration between AI and the pharmaceutical industry
AI is also contributing to making new drug development more efficient by utilizing genetic information.
AI identifies target genes
Pharmaceutical companies are using AI to develop new drugs that target specific genetic mutations.
This is being applied to the development of molecular targeted therapeutic drugs, such as for BRAF mutations (melanoma) and EGFR mutations (lung cancer).
Drug repositioning using AI (discovering new indications for existing drugs)
AI analyzes genetic information and evaluates whether existing medicines are effective against new diseases.
(statnews.com)
② Security risks to genetic information posed by AI
While the use of AI has improved the accuracy of genetic data analysis, it has also given rise to new security risks.
a. Risk of data falsification and incorrect analysis results
If the data an AI model learns from is biased, the analysis results may be inaccurate.
The risk that malicious attackers will tamper with AI training data and generate incorrect genetic information.
b. AI and genetic information privacy issues
Genetic information processed by AI could become a target of cyber attacks.
As the use of AI to infer individuals’ genetic information (reverse engineering) progresses, there is a risk that privacy will be violated.
13. Genetic information and the insurance industry
The use of genetic information is also impacting the life and health insurance industries. The ability to assess an individual’s disease risk at the genetic level has created new challenges in assessing insurance risks and setting contract terms.
Insurance risk assessment based on genetic information
In addition to traditional health check data and medical history, insurance companies are considering using genetic information to assess risk.
Insurance risk assessment using genetic testing
Identifying high-risk groups
For example, people with BRCA1/2 mutations are at higher risk of developing breast and ovarian cancer, so their insurance premiums may be higher.
People with the APOE ε4 allele are at higher risk for Alzheimer’s disease and may be subject to restrictions on obtaining long-term care insurance.
Risk-Based Insurance Products
There is also a movement to offer personalized insurance plans based on genetic information.
Summary
The storage and management of genetic information is essential for the development of medical care and research, but it faces many problems, including data distribution, privacy protection, and ethical issues. While AI-based analysis technology is evolving and its use in the insurance industry is progressing, there are concerns about the risk of discrimination and misuse of genetic information. Although regulations are being established in each country, stricter data protection and ethical guidelines are required. In the future, the balance between technological development and legal development will be an important issue.
