This study is the first nationwide survey in Japan on the actual management status of genetic information since the widespread adaptation of EMRs. We found that genetic information is subject to access restriction in more than half of the hospitals designated for clinical training that responded to the questionnaire. It is also revealed that special consideration is given to genetic information and diagnoses of certain infectious diseases and psychological counseling records.

By 2020, when we conducted this national survey, two important guidelines in Japan had been published regarding the handling of genetic information in medical records. In 2003, the Japanese societies related to genetic medicine jointly published the “Guidelines for Genetic Testing,” stipulating that general medical and genetic information linked to a specific individual should, in principle, be stored separately (Genetic Medicine Related Societies 2003). In 2011, the Japanese Association of Medical Sciences published the first edition of the “Guidelines for Genetic Tests and Diagnosis in Medical Practice” (Japanese Association of Medical Sciences 2011). The guidelines stated that “if a genetic test is performed for diagnosis of an examinee already showing signs of symptoms, the test results should be recorded in the medical documents as any other clinical test, and should be in principle shared by all physicians and healthcare experts involved in the care of the examinee.” On the other hand, it also stated that “in case the content of genetic counseling can infringe on the privacy issue, thoughtful response is required, for example, by describing and keeping the contents of counseling separate from the usual medical record.” There was no clear description of other genetic information, such as asymptomatic carrier and pre-symptomatic testing.

The existence of such guidelines may be one of the reasons for access restriction to genetic information in the Japanese medical field. The fact that many hospitals in this survey cited “unclear guidelines by academic societies and other organizations” as a reason for storage segregation supports this assumption. In addition, the higher rate of access restriction in hospitals with clinical genetics departments or in university hospitals and large hospitals, which were more likely to have clinical genetics departments, may also be related to the fact that such guidelines in the field of genetic medicine recommended access restriction for some genetic information (Genetic Medicine Related Societies 2003).

In the reality that genetic information is now widely used in routine medical care, there is concern that managing genetic information separately from other medical information will impede the sharing of information among multiple professions and departments and the provision of medical care in cooperation, to the detriment of patients. The Japanese Association of Medical Sciences revised its guidelines in March 2022 and added a new statement that “the results of genetic testing and content of genetic counseling should likewise generally be documented in medical records, similar to other clinical data” (Japanese Association of Medical Sciences 2022). However, it may be challenging to eliminate access restrictions represented by storage isolation in this revision because there are other reasons for storage segregation besides the guideline issue.

The most frequently cited reasons for implementing storage segregation were genetic information characteristics (Table 4). Genetic information does not change throughout life, is partially shared with family members, and can predict the future onset of disease. These characteristics of genetic information, noted in the JAMS guidelines, will not change regardless of how they are specified to be handled on EMRs by the guidelines. The second most frequently cited reason, concern for medical staff, is also thought to be due in large part to the characteristics of genetic information. Because of the nature of genetic information, it is believed that special attention should be paid to confidentiality.

Confidentiality of medical personnel is a classic ethical obligation and is stipulated by the law in Japan and many other countries. In Japan, as far as we were able to find out a few cases in which medical professionals have been held legally liable for leaking secrets. For example, there is a case in which a nurse was allowed to claim damages for revealing to her husband the name of an acquaintance whose diagnosis she had learned during her work (Ikeda 2013). In another case, a physician was partially awarded damages for leaking medical information and findings of the plaintiff, a patient, to the company where the plaintiff worked and with which the plaintiff was involved in a lawsuit (Saitama District Court Kawagoe Branch 2010). Since such leakage of information outside the hospital are extremely rare, it does not seem reasonable to implement access restriction to genetic information as a preventive measure against the occurrence of such incidents. Compared to leaks of information outside the hospital, viewing of EMRs by medical staff for non-medical purposes may occur more frequently. There have been many reported cases of unauthorized access to electronic medical records of acquaintances and celebrities by medical staff unrelated to their work, and the concern for privacy protection in EMRs is considered to be a reasonable one (Fujii et al. 2014). However, since confidentiality leakage and unauthorized access are problems common to the entire management of medical records, not limited to genetic information, it does not seem very reasonable to limit the discussion to preventing confidentiality leakage and unauthorized access to genetic information.

A more realistic concern than the intentional disclosure of confidentiality or unauthorized access by medical staff is the inadvertent disclosure of information to patients and their families (Suzuki et al. 2021). The timing and scope of disclosure of genetic information to patients and their family members need to be carefully considered, particularly in the case of carrier or pre-symptomatic diagnosis. In the case of serious genetic diseases such as Huntington’s disease, there has historically been concern that inadvertent disclosure of positive genetic mutation results can lead to suicide (Wahlin 2007). Black et al. selected 13 institutions from well-known medical centers with long-standing Huntington’s disease clinics, designated as the Huntington’s Disease Society of America Centers of Excellence and engaged in pre-symptomatic Huntington’s disease testing, and contacted social workers at those facilities to seek answers to their questions; ten of the 13 facilities responded, and in all 10 of them, the results of pre-symptomatic testing for Huntington’s disease were documented in the EMR, and seven facilities indicated that all authorized users of the electronic medical record had access to the records (Black et al. 2021). In other words, in three facilities, access restrictions including storage segregation as defined by the authors were considered to be in place. An interesting aspect of their survey was the use of pseudonyms as a way to protect patient information that was not observed in the present study. It is not clear whether the same considerations as for the diagnosis of Huntington’s disease need to be applied to all genetic information, but it is not believed that access restriction to genetic information is a special practice unique to Japan. However, concerns about inappropriate disclosure to patients and families leading to major problems or trouble would not be limited to genetic information. If access restrictions are necessary to control the appropriate disclosure of genetic information, then we would need to consider what other information should be subject to access restrictions. And there would need to be education for healthcare providers on how to properly manage such information.

Interestingly, a certain number of respondents cited the lack of a Japanese law like GINA to support and justify storage segregation. GINA prohibits discrimination concerning enrollment in medical insurance and employment (Feldman 2012). The universal health insurance system in Japan allows all residents to participate in public health insurance. In Japan, it is not originally allowed to determine whether or not a person is eligible for public insurance or to raise insurance premiums based on his/her health status or medical history, including genetic information. In terms of the medical insurance system, GINA is useless in Japan. In contrast, it is considered necessary to develop a system to prevent patients and their families from being socially disadvantaged by genetic information. In April 2022, the Japan Medical Association and the Japanese Association of Medical Sciences issued a joint statement to prevent patients from being subjected to unfair discrimination or disadvantage in social activities, including employment, based on genetic information (Japan Medical Association 2022). The joint statement recognizes that while whole genome analysis research is currently being promoted as a national policy, and genome analysis and genetic testing for patients and their relatives is rapidly being developed in the medical field, in Japan, the only rule regarding the handling of genetic and genome information is the Personal Information Protection Law, which is problematic. This may cause anxiety not only among patients and their families, but also among many healthy people who are unaware of the genetic relationship at this point. In addition, the committee urged insurance companies and other businesses that may handle genetic information, as well as related organizations, to promptly establish self-regulations for the handling of genetic information, and to ensure that the content of such self-regulations is appropriate and easy for consumers to understand. Patient groups have also issued statements similar to those of the Japan Medical Association. For example, Genetic Alliance JP (a major organization of patients having genetic diseases in Japan) and the Alliance of Cancer Patient Groups in Japan (Zenganren) have jointly expressed their agreement with the joint statement by the Japan Medical Association and the Japanese Association of Medical Sciences, and have called for the urgent implementation of laws and regulations to prevent discrimination and social disadvantages caused by genetic and genomic information (Zenganren 2022). We also hope that such a legal system will be established in Japan, but do not believe that access restrictions on EMRs will become unnecessary just because a legal system like GINA is enforced in Japan. This is because even in the USA, where GINA exists, access restrictions on electronic medical records are in place (Black et al. 2021). It goes without saying that even if the Japanese version of GINA is enacted, information related to medical care on EMRs, including genetic information, should be properly managed. Prevention of discrimination based on genetics and management of medical records regarding genetic information are two separate issues.

Is it right to let the patient decide what information should and should not be included in the EMR, and does the patient have the right to choose what information should be included in the EMR? Nineteen facilities reported that storage segregation is performed due to patient choice. In addition, although not listed in the table, a facility received consent from patients to include genetic information in the electronic medical record. These facilities are considered to be in the position of emphasizing the right to control one’s information. It is also a way of managing genetic information that is consistent with Black et al.’s assertion that “the least controversial ethical consideration is patient autonomy, especially respecting the patient’s choice about the confidentiality of information in his or her medical record.” While respect for autonomy is very important principle of biomedical ethics, the authors believe that further discussion is to determine the extent to which the patient’s preference must be respected when determining the scope of sharing medical information, including genetic information, within an institution. In Japan, Article 24 of the Medical Practitioners’ Act stipulates that “when a medical practitioner has provided medical care, the medical practitioner must enter the matters related to that medical care in a medical record without delay.” Thus, it is a legal obligation to make such entries in the medical record, and the consent of the patient is not required. Furthermore, in situations where genetic information is assumed to be an “incidental finding,” which is likely to be more common in routine medical care in the future, it seems impractical to obtain patients’ prior consent to the inclusion of genetic information in their medical records.

The advantage of paper medical records was cited for implementing storage segregation. Previous studies claimed that an advantage of paper medical records was easier storage, documentation of family trees, documentation of patients’ drawings and handwriting, and management of medical records for each family unit (Suzuki et al. 2021). However, it is easy to scan information written on paper and store it in an electronic medical record. It would be possible to manage information by family tree by utilizing the functions of the electronic medical record. On the other hand, paper medical records have problems such as the risk of loss or damage and tight storage space.

Opponents of genetic exceptionalism, which singles out genetic information for special treatment, often argue that genetic information is not the only sensitive information. In our survey, it became clear that genetic information is not the only type of information for which access restriction is being implemented. Access restriction methods were almost the same as those for genetic information. The most common types of information subject to access restriction were diagnoses of infectious diseases and psychiatric and psychological counseling records. In addition to these, a variety of information was subject to access restrictions.

Infectious diseases, mental illness, and genetic diseases are the main targets of storage segregation which may have something to do with the history of discrimination against these diseases in Japan. Based on the Eugenic Protection Law enacted in 1948, it is reported that more than 16,500 people with genetic diseases, Hansen’s disease, and mental illness were sterilized against their will until approximately the 1980s. A lawsuit filed by victims of forced sterilization against the government under the National Compensation Law led to compensation for those who had undergone eugenic surgery (Higuchi et al. 2019; Yamamoto 1993). There is another important case regarding infectious diseases. Even after the prevention and treatment of leprosy became widely known, the policy of isolating leprosy patients in sanatoriums continued unabated until the Leprosy Prevention Law was repealed in 1996. In 2001, after the government lost a lawsuit brought by sanatorium residents in the district court, Prime Minister Junichiro Koizumi decided to abandon the appeal, and the government accepted the ruling (Watts 2001). Although it is unclear whether the special management of genetic information, infectious disease diagnoses, and psychiatric history in EMRs, different from general medical information, will contribute to preventing the recurrence of the systematic discrimination that once occurred in Japan, it may have significance as a device to remember past mistakes.