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This forum describes an exploratory approach for assisting individuals with visual impairment during the informed consent (IC) process to participate in a cutting-edge trial. Our approach has been developed to focus on potential participants' preparedness to give IC, along with the creation of supporting audio material.

Japan’s government aims to promote the linkage of medical records, including medical genomic testing data and personal health records (PHRs), via cloud computing (the cloud). However, linking national medical records and using them for health care research can be controversial. Additionally, many ethical issues with using cloud networks with health care and genome data have been noted. However, no research has yet explored the Japanese public’s opinions about their PHRs, including genome data, being shared for health care research or the use of the cloud for storing and analyzing such data. Therefore, we conducted a survey in March 2021 to clarify the public’s attitudes toward sharing their PHRs, including genome data and using the cloud for health care research. We analyzed data to experimentally create digital health basic literacy scores (BLSs). Our results showed that the Japanese public had concerns about data sharing that overlapped with structural cloud computing issues. The effect of incentives on changes in participants’ willingness to share data (WTSD) was limited. Instead, there could be a correlation between WTSD and BLSs. Finally, we argue that it is vital to consider not only researchers but also research participants as value cocreators in health care research conducted through the cloud to overcome both parties’ vulnerability.

To deal with the risk of emerging diseases with many unknowns, close and timely collaboration and communication between science experts and policymakers are crucial to developing and implementing an effective science-based intervention strategy. The Expert Meeting, an ad hoc medical advisory body, was established in February 2020 to advise Japan's COVID-19 Response Headquarters. The group played an important role in the policymaking process, promoting timely situation awareness and developing science-based proposals on interventions that were promptly reflected in government actions. However, this expert group may have been overly proactive in taking on the government's role in crisis management. For the next stage of managing the coronavirus disease pandemic and future pandemics, the respective roles of the government and its advisory bodies need to be clearly defined. Leadership and strategic risk communication by the government are key.

The involvement of patients and the public with researchers is essential in clinical research on cancer treatment. In recent years, patient and public involvement(PPI)has been required in all medical research processes. This paper summarizes practical considerations and examples of the PPI process referred to in the"Patient and Public Involvement(PPI)Guidebook"of the Japan Agency for Medical Research and Development(AMED). The process consists of the introduction of PPI, recruitment of PPI participants, conflict of interest management and rewards for PPI participants, the confidentiality of PPI participants, and reporting results and feedback. It is difficult to provide a standardized procedure because PPI activities vary among the research projects. It is recommended to implement PPI activities into your research project by utilizing the actual cases or existing information sources.

The Radiation Effects Research Foundation (RERF) is the primary organization in Japan dedicated to studying the health consequences of the Hiroshima and Nagasaki atomic bombings in World War II. In December 2020, RERF held a virtual international workshop on the ethical, legal and social implications (ELSI) of genome studies. In this workshop, the ELSI considerations of future human genome studies on radiation research including atomic bomb survivors and their families were discussed. Since genome sequencing (GS) is now practical and affordable, RERF now plans GS of parents/child trios to examine genetic effects of atomic bomb radiation. As such studies may engender some novel risks and benefits, ethics review and engagement with families (including consent) need to be considered. These include protection of individual privacy, use of samples from deceased prior participants, return of results to the participants, public sharing of genome data and advance science and social welfare. Specifically with regard to social welfare, the results of such studies may have implications for public and government decision-making regarding social benefits of victims and other important questions. Based on these broad-ranging discussions we have developed the following concepts to guide this work: “trust,” “compromise” and “relationship building,” inclusive of the concerned stakeholders, scientific aims and Japanese society at large. We conclude that in order to realize, establish and maintain these concepts, it is essential to put procedures into place to ensure the successful, consensus-based implementation of the RERF studies.

This study aims to determine the approximate number of hospitalizations of persons without family and the medical challenges they encounter in hospitals across Japan. Self-administered questionnaires were mailed to 4,000 randomly selected hospitals nationwide to investigate the actual conditions and problems, decision-making processes, and use of the government-recommended Guidelines for the hospitalization of, and decision-making support for, persons without family. To identify the characteristics of each region and hospital function, chi-square tests were used to make separate group comparisons by hospital location and type. Responses were received from 1,271 hospitals (31.2% response rate), of which 952 hospitals provided information regarding the number of admissions of persons without family. The mean (SD) and median number of hospitalizations (approximate number per year) of patients without family was 16 (79) and 5, respectively. Approximately 70% of the target hospitals had allowed the hospitalization of a person without family. The most common difficulties encountered during the hospitalization were collecting emergency contact information, decision-making related to medical care, and discharge support. In the absence of family members and surrogates, the medical team undertook the decision-making process, which was commonly performed according to manuals and guidelines and by consulting an ethics committee. Regarding the use of the government-recommended Guidelines, approximately 70% of the hospitals that were aware of these Guidelines responded that they had never taken any action based on these Guidelines, with significant differences by region and hospital type. To solve the problems related to the hospitalization of persons without family, the public should be made aware of these Guidelines, and measures should be undertaken to make clinical ethics consultation a sustainable activity within hospitals.

Whole-genome sequencing (WGS) is being used in research and clinical settings in cancer genomics. Studies show that cancer patients generally have positive attitudes toward tumor profiling tests; however, few works revealed their attitudes toward WGS. This study clarifies the expectations, concerns, and result preferences of cancer patients (CPs), family members (FMs) and general adults (GAs) regarding WGS study in Japan. We conducted an anonymous survey with 1204 CPs, 5958 FMs, and 2915 GAs in 2021. Despite low awareness of the WGS studies, CPs had the highest expectations for it. FMs had a higher level of concern than CPs and GAs; feeling anxious by knowing the results, being treated unfavorably if germline findings were detected. Both the FMs and CPs were highly concerned about the protection of genetic information. CPs preferred results with actionability, however, only half preferred to know germline findings. Given the possibility of detecting variants across multidisciplinary diseases and the long-term continuity of WGS research, a system is needed in which study participants can consult and receive decision-making support at any time according to their needs.

The ethical and legal social issues of coronavirus disease 2019 (COVID-19) include (1) bio- and public health ethics, (2) research ethics, (3) implementation of the legal system, (4) participation of COVID-19 parties, (5) impact on vulnerable populations, and (6) use of digital technology The following are some examples This article addresses the background and definitions of prejudice, discrimination, and risk communication issues that underlie these issues, as well as recent developments

Since the 1990s, insurance has been the primary field focused on the social disadvantages of using genetic test results because of the concerns related to adverse selection. Although life insurance is popular in Japan, Japan does not currently have any regulations on the use of genetic information and insurers have largely kept silent for decades. To reveal insurers’ attitudes on the topic, we conducted an anonymous questionnaire survey with 100 insurance company employees and recruited nine interviewees from the survey respondents. We found that genetic discrimination is not generally considered as a topic of human rights. We also found that insurers have uncertain fears and concerns about adverse selection in terms of actuarial fairness but not regarding profits. When it comes to preparing guidelines on the use of genetic information by Japanese insurers, we believe that public dialog and consultation are necessary to gain understanding of the people.

Introduction: Over 40,000 cancer patients have taken comprehensive genomic profiling (CGP) tests under health insurance coverage in Japan since June 2019. However, the indication is limited only to cancer patients who have finished (or are expected to finish) standard treatments. The aim of this study is to evaluate patients’ outcomes, levels of understanding, and satisfaction of the patients who received CGP tests. Methods: We performed a nationwide surveillance of 933 cancer patients who examined CGP tests at 80 institutions in Japan under the approval of the institutional ethics committee. The responses to the questionnaire (either web-based or paper-based) were from patients (81.6%) or their families (18.4%). Results: The range of patients’ age was 70s at 29.6%, followed by 60s at 26.8%, and 50s at 20.8%. The level of understanding during informed consent for the CGP tests {11 scales from 0 (lowest) to 10 (highest)} were 7 or higher in 70.8%, and those about their test results were 7 or higher in 75.2 %. The information was predominantly provided by attending physicians (78.0%) or physicians specialized in genomic medicine (19.6%), and limitedly from cancer genome medical coordinators (11.4%) and nurses (10.4%). The patients underwent FoundationOne CDx® (56.3%), FoundationOne Liquid CDx® (11.6%), or a domestic tumor/normal paired panel (OncoGuideTM NCC Oncopanel System, 14.4%). 16.2% of the patients could not recall which CGP test they received. New treatments based on the CGP testing were suggested in 46.8%, and 20.8% of them were treated with a suggested treatment by an expert panel (i.e., molecular tumor board). The treatment type was (i) approved drugs, 70.3%, (ii) clinical trials, 16.5%, (iii) patient-proposed national basket trial, 3.2%, and (iv) off-label use, 1.1%. 77.4% of the patients requested disclosure of germline findings, 10.5% declined, and 11.4% did not remember their decision. Overall satisfaction scores (11 scales) were found to be 7 or higher at 64.6%. The reasons for satisfaction included having the opportunity to learn about cancer risks of relatives (21.0%), having received detailed explanation (19.7%), having received information on new therapies (18.4%), and having the opportunity to learn about their cancer in detail (15.9%). The reason for lower scores (6 or lower) was mainly due to not receiving recommendations to a genome-matched therapy (58.3%). Conclusion: Our surveillance highlighted the significance of drug accessibility, information from interdisciplinary collaboration team, and appropriate information about the test results. The opportunity to learn about their cancer in detail was valuable for the patients as well, even when the results of CGP testing did not lead to a novel therapy. Citation Format: Katsutoshi Oda, Hidenori Kage, Manabu Muto, Katsuya Tsuchihara, Natsuko Okita, Yusuke Okuma, Junko Kikuchi, Hidekazu Shirota, Hideyuki Hayashi, Toshio Kokuryo, Daisuke Sakai, Akira Hirasawa, Makoto Kubo, Hirotsugu Kenmotsu, Nana Akiyama, Hyangri Chang, Aya Shinozaki-Ushiku, Masahiko Tanabe, Tetsuo Ushiku, Kaori Muto, Kiyoshi Miyagawa, Yasuyuki Seto. Real-world surveillance from cancer patients about their experience of comprehensive genomic profiling tests in Japan [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2023; Part 1 (Regular and Invited Abstracts); 2023 Apr 14-19; Orlando, FL. Philadelphia (PA): AACR; Cancer Res 2023;83(7_Suppl):Abstract nr 3225.

Smartphones are being increasingly used for research owing to their multifunctionality and flexibility, and crowdsourced research using smartphone applications (apps) is effective in the early detection and management of chronic diseases. We developed the AllerSearch app to gather real-world data on individual subjective symptoms and lifestyle factors related to hay fever. This study established a foundation for interactive research by adopting novel, diverse perspectives accrued through implementing the principles of patient and public involvement (PPI) in the development of our app.Patients and members of the public with a history or family history of hay fever were recruited from November 2019 to December 2021 through a dedicated website, social networking services, and web briefing according to the PPI Guidebook 2019 by the Japan Agency for Medical Research and Development. Nine opinion exchange meetings were held from February 2020 to December 2021 to collect opinions and suggestions for updating the app. After each meeting, interactive evaluations from PPI contributors and researchers were collected. The compiled suggestions were then incorporated into the app, establishing an active feedback loop fed by the consistently interactive infrastructure.Four PPI contributors (one man and three women) were recruited, and 93 items were added/changed in the in-app survey questionnaire in accordance with discussions from the exchange meetings. The exchange meetings emphasized an atmosphere and opportunity for participants to speak up, ensuring frequent opportunities for them to contribute to the research. In March 2020, a public website was created to display real-time outcomes of the number of participants and users' hay-fever-preventative behaviors. In August 2020, a new PPI-implemented AllerSearch app was released.This study marks the first research on clinical smartphone apps for hay fever in Japan that implements PPI throughout its timeline from research and development to the publication of research results. Taking advantage of the distinct perspectives offered by PPI contributors, a step was taken toward actualizing a foundation for an interactive research environment. These results should promote future PPI research and foster the establishment of a social construct that enables PPI efforts in various fields.Patient and public involvement (PPI) plays an important role in promoting effective execution of health science research, as well as in the establishment of a social agreement and infrastructure for the care of various diseases, including cancer, chronic diseases, and allergic illnesses. Hay fever is one of the most common allergic diseases, affecting more than 30 million people in Japan. It is known for its myriad factors and diverse presentations. Previously, we developed a mobile health (mHealth) smartphone application (app) for hay fever—AllerSearch—released in February 2018. This app is capable of collecting relevant digital phenotypes and user-provided information, which are used in providing tailored, evidence-based suggestions. To our knowledge, no other studies have been conducted on the implementation of PPI in mHealth. Since hay fever presents with a wide variety of symptoms and risk factors, PPI principles appear well-suited for eliciting insights from the patient/public population and for incorporating new, expert perspectives into the research process. In this study, we included PPI contributors in the research plan, app development, and evaluation. Most notably, the survey questionnaire and user interface of the app was tailored based on PPI feedback. The updated AllerSearch app was released during this study period. Since hay fever is a widespread and variable illness, the multifaceted input from patients and public experts enabled by PPI implementation holds promise for improving society-wide healthcare and in empowering a culture toward medical involvement.

The prevalence of hay fever, a multifactorial allergic disease, is increasing. Identifying individual characteristics and associated factors of hay fever is essential for predictive, preventive, personalized, and participatory (P4) medicine. This study aimed to identify individual characteristics and associated factors of hay fever using an iPhone application AllerSearch.This large-scale mobile health-based cross-sectional study was conducted between February 2018 and May 2020. Individuals who downloaded AllerSearch in Japan and provided a comprehensive self-assessment (general characteristics, medical history, lifestyle habits, and hay fever symptoms [score range 0-36]) were included. Associated factors of hay fever (vs. non-hay fever) and severe hay fever symptoms were identified using multivariate logistic and linear regression analyses, respectively.Of the included 11,284 individuals, 9041 had hay fever. Factors associated with hay fever (odds ratio) included age (0.98), female sex (1.33), atopic dermatitis (1.40), history of dry eye diagnosis (1.36), discontinuation of contact lens use during hay fever season (3.34), frequent bowel movements (1.03), and less sleep duration (0.91). The factors associated with severe hay fever symptoms among individuals with hay fever (coefficient) included age (-0.104), female sex (1.329), history of respiratory disease (1.539), history of dry eye diagnosis (0.824), tomato allergy (1.346), discontinuation of contact lens use during hay fever season (1.479), smoking habit (0.614), and having a pet (0.303).Our large-scale mobile health-based study using AllerSearch elucidated distinct hay fever presentation patterns, characteristics, and factors associated with hay fever. Our study establishes the groundwork for effective individualized interventions for P4 medicine.

This chapter discusses ethical, legal, and social issues (ELSI) centered around hereditary breast and ovarian cancer syndrome (HBOC). In the first half, we discuss ethical considerations in the context of decision-making on genetic testing, debates on incidental/secondary findings (IFs/SFs), and global trends in clinical and/or genetic data sharing, including with patients and their family members. In the second half, from the perspective of clinical ethics of cancer diagnosis and treatment, we introduce the importance of decision-making and care based on the shared decision-making (SDM) approach and practical points in prophylactic surgery. We also discuss dilemmas that arise regarding confidentiality between medical professionals and their patients. This includes disclosure of genetic information with genetic relatives, and challenges in family communication, in which carefully assessed and encouraging support may be needed for patients and family members.

Background The burden of dementia is growing rapidly and has become a medical and social problem in Japan. Prospective cohort studies have been considered an effective methodology to clarify the risk factors and the etiology of dementia. We aimed to perform a large-scale dementia cohort study to elucidate environmental and genetic risk factors for dementia, as well as their interaction. Methods The Japan Prospective Studies Collaboration for Aging and Dementia (JPSC-AD) is a multisite, population-based prospective cohort study of dementia, which was designed to enroll approximately 10,000 community-dwelling residents aged 65 years or older from 8 sites in Japan and to follow them up prospectively for at least 5 years. Baseline exposure data, including lifestyles, medical information, diets, physical activities, blood pressure, cognitive function, blood test, brain magnetic resonance imaging (MRI), and DNA samples, were collected with a pre-specified protocol and standardized measurement methods. The primary outcome was the development of dementia and its subtypes. The diagnosis of dementia was adjudicated by an endpoint adjudication committee using standard criteria and clinical information according to the Diagnostic and Statistical Manual of Mental Disorders, 3rd Revised Edition. For brain MRI, three-dimensional acquisition of T1-weighted images was performed. Individual participant data were pooled for data analyses. Results The baseline survey was conducted from 2016 to 2018. The follow-up surveys are ongoing. A total of 11,410 individuals aged 65 years or older participated in the study. The mean age was 74.4 years, and 41.9% were male. The prevalence of dementia at baseline was 8.5% in overall participants. However, it was 16.4% among three sites where additional home visit and/or nursing home visit surveys were performed. Approximately two-thirds of dementia cases at baseline were Alzheimer’s disease. Conclusions The prospective cohort data from the JPSC-AD will provide valuable insights regarding the risk factors and etiology of dementia as well as for the development of predictive models and diagnostic markers for the future onset of dementia. The findings of this study will improve our understanding of dementia and provide helpful information to establish effective preventive strategies for dementia in Japan.

The purpose of this paper is to review and introduce several topics regarding clinical ethics of hereditary neurological disorders. The author reflects the historical background about "right to know" and "right not to know" the results of genetic testing in 1990s, including pediatric genetic testing. Twenty years after, advanced genome sequencing technologies enable us to analyze whole genome while they also encourage us to reconsider the ethical norms. The current topics are such us secondary findings and actionability, support for telling the genetic secrets to biological relatives, duty of confidentiality and duty of care to third parties, indivisibility in research and diagnosis and pre-implantation genetic testing for monogenic/single gene defects.

Allergic conjunctivitis affects approximately 15-20% of the global population and can permanently deteriorate one's quality of life (QoL) and work productivity, leading to societal work force costs. Although not fully understood, allergic conjunctivitis is a multifactorial disease with a complex network of environmental, lifestyle, and host contributory risk factors. To effectively enhance the quality of treatment for patients with allergic conjunctivitis, as well as other allergic diseases, the field must first comprehend the pathology underlying various individualized subjective symptoms and stratify the disease according to risk factors and presentations. Such competent stratification and societal reconstruction that targets the alleviation of the damage due to allergic diseases would greatly help ramify personalized treatments and prevent the projected increase in societal costs imposed by allergic diseases. Owing to the rapid advancements in the information and technology sector, medical big data are greatly accessible and useful to decipher the pathophysiology of many diseases. Such data collected through multi-omics and mobile health have been effective for research on chronic diseases including allergic and immune-mediated diseases. Novel big data containing vast and continuous information on individuals with allergic conjunctivitis and other allergic symptoms are being used to search for causative genes of diseases, gain insights into new biomarkers, prevent disease progression, and, ultimately, improve QoL. The individualized and holistic data accrued from new angles using technological innovations are helping the field realize the principles of P4 medicine: predictive, preventive, personalized, and participatory medicine.

Genomic tumor profiling tests (GTPTs) to find molecular targeted drugs for patients with advanced cancer are being introduced into clinical settings, which may result in secondary germline findings. Although small-scale qualitative studies have revealed patients’ attitudes toward GTPTs and preferences on receiving germline findings, no large-scale quantitative research exists that includes family members. We conducted anonymous surveys with 757 cancer patients (CPs), 763 family members (FMs), and 3697 general adults (GAs) in Japan. Awareness of GTPTs was low in all groups, however, both CPs and FMs showed a higher degree of recognition in the benefits of GTPTs. FMs wanted information on germline findings to be shared more than the CPs. Since advanced CPs may have psychological burdens that make it difficult to express their opinions on their therapeutic options and sharing germline findings, GTPTs should be offered with advanced care planning for patients.

The Japanese government instituted countermeasures against COVID-19, a pneumonia caused by the new coronavirus, in January 2020. Seeking “people’s behavioral changes,” in which the government called on the public to take precautionary measures or exercise self-restraint, was one of the important strategies. The purpose of this study is to investigate how and from when Japanese citizens have changed their precautionary behavior under these circumstances, where the government has only requested their cooperation. This study uses micro data from a cross-sectional survey conducted on an online platform of an online research company, based on quota sampling that is representative of the Japanese population. By the end of March 2020, we had recruited a total of 11,342 respondents, aged from 20 to 64 years. About 85% reported practising the social distancing recommended by the government. More females than males and more older than younger participants are supportive of practicing social distancing. Frequent handwashing is conducted by 86 percent of all, 92 percent of female and 87.9 percent of over-40 participants. The most important event influencing these precautionary actions was the infection aboard the Diamond Princess cruise ship, which occurred in early February 2020 (23%). Information from the central and local governments, received by 60% of the participants, was deemed trustworthy by 50%. However, the results also showed that about 20% of the participants were reluctant to implement proper prevention measures. The statistical analysis indicated that the typical characteristics of those people were male, younger (under 30 years old), unmarried, from lower-income households, with a drinking or smoking habit and a higher extraversion score. To prevent the spread of infection in Japan, it is imperative to address these individuals and encourage their behavioral changes using various means to reach and influence them.

Genome editing of human embryos could become a fundamental treatment approach for genetic diseases; however, a few technical and ethical issues need to be resolved before its application in clinical settings. Presently, the Japanese government has issued a statement prohibiting human germline editing and emphasizing the need for discussions that include a wide range of perspectives. However, current discussions tend to exclude the general public. Therefore, we conducted a survey of 10,881 general adults and 1044 patients in Japan who indicated that their disease conditions are related to their genetic makeup, and clarified their attitude toward this technology. The results clearly indicated that the Japanese people generally accepted the use of genome editing for disease-related genes, but many were concerned about the risks. In addition, many Japanese people did not understand the technology well. To improve awareness and understanding about genome editing, it is important that scientists and science communicators create opportunities for the public to participate in relevant discussions without harming vulnerable participants. It is also important to continuously track changes in the acceptance of genome editing by the public.

Introduction One of the ethical issues surrounding birth cohort studies is how to obtain informed assent from children as they grow up. What and how parents tell their children affects children's future choices about the study, yet few studies have focused on parents’ influence on children. Objective This study examines parents’ attitudes towards telling their children about their participation in a specific birth cohort study. Methods We conducted surveys and in‐depth interviews with the parents of children who participated in the “Japan Environment and Children's Study” (JECS), which follows children from the foetal stage to age 13. Results Forty‐four mothers and 23 fathers answered the survey, and 11 mothers and 3 fathers participated in in‐depth interviews. Parents’ attitudes towards “telling” were categorized into 3 communication styles depending on their perception of the risk/benefits for their children. Most parents predicted that the study would benefit their children and preferred “directive telling,” which we divided into “empowered telling” (provides children with a positive identity as participants) and “persuasive telling” (attempts to persuade children even if they express reluctance as they grow). A few parents, weighing the study's potential risk, preferred “non‐directive telling,” which respects children's choices even if that means withdrawing from the study. Discussion While “directive telling” may lead children to have positive associations with the study, children should also be told about the risks. Investigators can provide materials that support parents and give children age‐appropriate information about their participation, as well as ensure opportunities for children to express their feelings.

Ongoing research on making “human-animal chimeras” or “animals containing human material” (ACHM) to solve the shortage of organs available for transplantation has raised many ethical issues regarding the creation and utilization of such constructs, including cultural views regarding the status of those creations. A pilot study was conducted to explore Japanese public attitudes toward human-animal chimeras or ACHM. The February 2012 study consisted of focus group interviews (FGIs) with citizens from the Greater Tokyo Area, aged between 20 and 54. The 24 participants were divided into four groups. Transcripts of the interviews were analyzed and participants’ attitudes categorized. Five categories of participant attitudes were identified: (1) resistance to the unnatural, (2) concerns about animal welfare, (3) concerns about controlling human-animal chimeras, (4) concerns about the possible birth of intermediate entities, and (5) resistance to creating and utilizing animals containing my material or my child’s material. Our FGI results showed a broader and greater variety of public concerns than those reported in previous studies. While researchers have tried to establish new methods to avoid creating intermediate entities, our participants expressed concerns about not only intermediate entities but also animals containing their own material or their child’s material. Based upon their responses in the interviews, we are introducing a new ethical concern: “animals containing my material/my child’s material.”

BackgroundLeftover samples obtained during autopsies are extremely important basic materials for forensic research. However, there are no established practices for research-related use of obtained samples.ObjectiveThis study discusses good practice for the secondary use of samples collected during medicolegal autopsies.MethodsA questionnaire was posted to all 76 departments of forensic medicine performing medicolegal autopsies in Japan, and 48 responses were received (response rate: 63.2%). As a secondary analysis, we surveyed information provided on department websites.ResultsEthical reviews conducted when samples were to be used for research varied greatly among departments, with 21 (43.8%) departments reporting ‘fundamentally, all cases are subject to review’, eight (16.7%) reporting ‘only some are subject to review’ and 17 (39.6%) reporting ‘none are subject to review’. Information made available on websites indicated that 11 departments had a statement of some type to bereaved families about the potential research use of human samples obtained during autopsies. Nine of these included a notice stating that bereaved families may revoke their consent for use. Several departments used an opt-out system.ConclusionThere is no common practice in the field of legal medicine on the ethical use for medical research of leftover samples from medicolegal autopsies. The trust of not only bereaved families but also society in general is required for the scientific validity and social benefits of medical studies using leftover samples from medicolegal autopsies through the use of opt-out consenting and offline and online dissemination and public-relations activities.

The Japanese government instituted countermeasures against COVID-19, a pneumonia caused by the new coronavirus, in January 2020. Seeking "people's behavioral changes," in which the government called on the public to take precautionary measures or exercise self-restraint, was one of the important strategies. The purpose of this study is to investigate how and from when Japanese citizens have changed their precautionary behavior under circumstances in which the government has only requested their cooperation. This study uses micro data from a cross-sectional survey conducted on an online platform of an online research company, based on quota sampling that is representative of the Japanese population. By the end of March 2020, a total of 11,342 respondents, aged from 20 to 64 years, were recruited. About 85 percent reported practising the social distancing measures recommended by the government including more females than males and more older than younger participants. Frequent handwashing is conducted by 86 percent of all participants, 92 percent of female, and 87.9 percent of over-40 participants. The most important event influencing these precautionary actions was the infection aboard the Diamond Princess cruise ship, which occurred in early February 2020 (23 percent). Information from the central and local governments, received by 60 percent of the participants, was deemed trustworthy by 50 percent. However, the results also showed that about 20 percent of the participants were reluctant to implement proper prevention measures. The statistical analysis indicated that the typical characteristics of those people were male, younger (under 30 years old), unmarried, from lower-income households, a drinking or smoking habit, and a higher extraversion score. To prevent the spread of infection in Japan, it is imperative to address these individuals and encourage their behavioural changes using various means to reach and influence them.

Background Prostate cancer is the sixth leading cause of cancer-related deaths in Japan. We aimed to elucidate the clinical and histopathological characteristics of patients with prostate cancer in the BioBank Japan (BBJ) project. Methods Four thousand, seven hundred and ninety-three patients diagnosed with prostate cancer in the BBJ project were included. Clinical and histopathological data, including causes of death, were analyzed. Relative survival (RS) rates of prostate cancer were calculated. Results Four thousand, one hundred and seventy-one prostate cancer patients with available histological data had adenocarcinoma. The mean age of the patients was 72.5 years. The proportion of patients who were non-smokers, non-drinkers, had a normal body mass index, did not exercise, had a normal prostate-specific antigen level, and had a family history of prostate cancer were 30.7%, 28.0%, 66.6%, 58.1%, 67.6%, and 6.5%, respectively. The proportion of patients with Stage II, III, and IV disease were 24.4%, 7.3%, and 4.4%, respectively. After limiting to patients with a time from the initial diagnosis of prostate cancer to entry into the study cohort of ≤90 days (n = 869), the 5- and 10-year RS rates were 96.3% and 100.5%, respectively, although we were unable to consider management strategies due to a plenty of data missing. Conclusions We provide an overview of patients with prostate cancer in the BBJ project. Our findings, coupled with those from various high throughput “omics” technologies, will contribute to the implementation of prevention interventions and medical management of prostate cancer patients., Highlights • Prostate cancer represents the second leading cause of cancer incidence worldwide. • We aimed to provide an overview of patients with prostate cancer. • Based on prostate cancer histology, 99.3% had adenocarcinoma. • The 5- and 10-year relative survival rates were 96.3% and 100.5%. • Future studies will help develop preventive programs for prostate cancer.

Background Liver cancer is the fifth cause of cancer-related deaths in Japan. The BioBank Japan (BBJ) project included 200,000 patients with 47 diseases and samples; their clinical information can be used for further studies. Methods Patients diagnosed with liver cancer (n = 1733; 1316 men, 417 women) were included. Histology, patient characteristics, clinical characteristics, and causes of death were collected. Cumulative and relative survival rates for liver cancer were calculated. Results Of the 1354 patients with available liver cancer histology, 91.9% had hepatocellular carcinoma (HCC). Compared with the National Health and Nutrition Examination Survey, greater proportions of the male patients in this cohort were daily alcohol consumers (26%), and a greater proportion of the men was overweight/obesity (22%). Although Japan is the only Asian country with a predominance of hepatitis C virus (HCV)-related HCC, the prevalence of HCV infection (44%) was lower than that in a previous study. The 3-, 5-, and 10-year cumulative survival rates were 57%, 47%, and 25% in men, respectively, and 49%, 41%, and 27% in women, respectively. Conclusions The present results provide an overview of the patients with liver cancer in the BBJ project. We are planning further analyses combined with various high-throughput ‘omics’ technologies., Highlights • Liver cancer is the second leading cause of death worldwide. • We aimed to provide an overview of patients with liver cancer. • Based on liver cancer histology, 91.9% had hepatocellular carcinoma. • The 10-year relative survival rates were 34% in men and 38% in women. • Future studies will help develop preventive programs for liver cancer.

Background Breast cancer is currently the most common type of cancer in Japanese females. Unlike most other types of cancer, breast cancer develops more frequently in middle-aged females than in elderly females. Methods Of all Japanese female breast cancer patients aged ≥20 years whom the BioBank Japan Project originally enrolled between 2003 and 2008, 2034 were registered within 90 days after their diagnosis. We described the lifestyle and clinical characteristics of these patients at study entry. Furthermore, we examined the effect of these characteristics on all-cause mortality. Results In the female patients registered within 90 days after diagnosis, the frequency of stage 0 or unclassified, stage I, II, III and IV were 11.4%, 47.9%, 37.0%, 2.9% and 0.8%, respectively. The proportion of histological types was 12.9% for non-invasive carcinoma (ductal carcinoma and lobular carcinoma), 81.0% for invasive carcinoma (papillotubular carcinoma, solid tubular carcinoma, scirrhous carcinoma and special types), 0.2% for Paget's diseases and 5.8% for others. Those positive for the estrogen and progesterone receptors accounted for 75.8% and 62.1% of all patients, respectively. Among 1860 female participants registered within 90 days, 218 participants died during 144,54 person-years of follow-up. More advanced stage, elevation of serum carcinoembryonic antigen and carbohydrate antigen 15-3 levels and absence of the estrogen receptor at study entry were crudely associated with an increased risk of all-cause mortality after adjustment for age. Conclusions This study showed the association of several clinical characteristics with all-cause mortality in female breast cancer patients., Highlights • About 1% of Japanese female breast cancer patients were diagnosed as stage IV. • Invasive carcinoma was much more common than non-invasive carcinoma. • Papillotubular carcinoma was the most common type of invasive carcinoma. • About 75% were positive for estrogen receptor and 60% for progesterone receptor. • Some characteristics would affect all-cause mortality in breast cancer patients.

Background Colorectal cancer is the third most common cancer worldwide, and in Japan, it is estimated that about 10% of men and 8% of women will be diagnosed with colorectal cancer during their lifetime. Methods We focused on 5864 participants (3699 men and 2165 women) who had colorectal cancer and were registered with BioBank Japan (BBJ) between April 2003 and March 2008. Characteristics of colon and rectal cancer patients were calculated separately. Among the enrolled patients registered in BBJ within 90 days after diagnosis, we also calculated the 5-year cumulative and relative survival rates, and estimated the effect of lifestyle factors on all-cause mortality. Results Our participants included younger men than those in the Patient Survey and the Cancer Registry Japan. In more than 95% of cases the histological type was adenocarcinoma both in colon and rectal cancer. Rectal cancer patients tended to eat more meat and less green leafy vegetables compared with colon cancer patients. The 5-year cumulative survival rate was 73.0% (95% CI; 70.1%–75.7%) and the 5-year relative survival rate was 80.6% (77.4%–83.6%), respectively, for colon cancer. For rectal cancer, the rates were 73.3% (69.1%–77.0%) and 80.9% (76.3%–85.0%), in the same order. Lifestyle factors such as consuming less green leafy vegetables, being underweight, smoking, not consuming alcoholic beverages and being physically inactive were found to be related to poor survival. Conclusions We described lifestyle characteristics of colorectal cancer patients in BBJ and examined the impacts on subsequent all-cause mortality., Highlights • More than 95% were adenocarcinoma both in colon and rectal cancer. • Rectal cancer patients ate more meat and less green vegetables than colon cancer. • Eating green vegetables and drinking alcohol moderately decreased the mortality risk.

Background The number of patients with diabetes is increasing worldwide. Macrovascular disease, chronic kidney disease, chronic respiratory disease, cancer and smoking frequently accompany type 2 diabetes. Few data are available related to mortality of Asians with diabetes associated with these serious comorbidities. The present study aimed to quantify the excess mortality risks of type 2 diabetic patients with comorbidities. Methods We analysed the available records of 30,834 Japanese patients with type 2 diabetes from the BioBank Japan Project between 2003 and 2007. Men and women were followed up for median 8.03 and 8.30 years, respectively. We applied Cox proportional hazard model and Kaplan–Meier estimates for survival curves to evaluate mortality in diabetic patients with or without macrovascular disease, chronic respiratory disease, chronic kidney disease, cancer and smoking. Results Adjusted hazard ratios (HRs) for mortality were 1.39 (95% CI, 1.09–1.78) for male sex, 2.01 (95% CI, 1.78–2.26) per 10-year increment of age. Adjusted HRs of primary interest were 1.77 (95% CI, 1.42–2.22), macrovascular disease; 1.58 (95% CI, 1.08–2.31), chronic respiratory disease; 2.03 (95% CI, 1.67–2.47), chronic kidney disease; 1.16 (95% CI, 0.86–1.56), cancer; and 1.74 (95% CI, 1.30–2.31), current smoking. Conclusions Diabetic patients with a past or current history of chronic kidney, macrovascular or respiratory diseases or smoking habit have exhibited the highest risk of mortality. Data were limited to those of survivors of comorbidities but we propose the need to improve comorbidities and terminate cigarette smoking for better prognosis in patients with diabetes., Highlights • Fatal diseases frequently accompany diabetes. • Data for survival of Asian patients with diabetes with comorbidities are scarce. • Comorbid chronic kidney disease was associated with the most fatalities. • Current smoking was as fatal as 10 years of ageing in diabetic patients. • Values of 1% HbA1c and 10 mmHg blood pressure confer 11% excess mortality risk.

Background Controlling serum cholesterol is critical to prevent cardiovascular disease in patients with dyslipidaemia. Guidelines emphasise the need to select treatment for dyslipidaemia based on specific patient profiles; however, there is little information about the serum cholesterol levels of patients in each profile in Japan. Therefore, we aimed to describe the serum cholesterol levels and prevalence of uncontrolled cases in Japanese patients with dyslipidaemia. Methods We included data for patients with dyslipidaemia between 2003 and 2007 from the BioBank Japan Project (66 hospitals). Then, we reported their serum cholesterol levels by age, body mass index, glycaemic control (glycated haemoglobin A1c), blood pressure, smoking, drinking, comorbidity and medication profiles. Results We included 22,189 male and 21,545 female patients. The mean serum low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C), triglyceride (TG) and non-HDL-C levels in males were 117.4 mg/dL, 51.0 mg/dL, 187.6 mg/dL and 153.6 mg/dL, respectively; the corresponding levels in females were 129.5 mg/dL, 60.5 mg/dL, 144.9 mg/dL and 157.9 mg/dL, respectively. In both males and females, the LDL-C levels were the highest in the following profiles: age 19–44 years, body mass index 18.5–22 kg/m2, glycated haemoglobin A1c, Highlights • Evidence of serum cholesterol control in Japanese dyslipidaemic patients is scarce. • We analysed data for a large-scale population in hospital settings. • Our findings provide serum cholesterol levels by different risk profiles. • Serum lipid levels were the lowest in the youngest patients. • Data should be carefully applied to patients with mild hyperlipidaemia.

Owing to the rapid spread of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic worldwide, individuals experience considerable psychological distress daily. The present study aimed to clarify the prevalence of psychological distress and determine the population most affected by risk factors such as the pandemic, socioeconomic status (SES), and lifestyle-related factors causing psychological distress in the early phases of the pandemic in Japan. This study was conducted via a web-based survey using quota sampling to ensure representativeness of the Japanese population aged 20–64 years. A cross-sectional study of 11,342 participants (5,734 males and 5,608 females) was conducted using a self-administered questionnaire that included the Japanese version of the Kessler 6 Psychological Distress Scale (K6) and questions related to the pandemic, SES, and lifestyle. The prevalence of psychological distress, represented by a K6 score of 5 or more, was 50.3% among males and 52.6% among females. Both males and females with annual household incomes less than 2 million yen and males aged in their twenties had significantly higher K6 scores than those with annual household incomes above 2 million yen and males aged over 30 years. Binary logistic regression analyses found pandemic-related factors such as medical history, inability to undergo clinical tests immediately, having trouble in daily life, unavailability of groceries, new work style, and vague anxiety; SES-related factors such as lesser income; and lifestyle-related factors such as insufficient rest, sleep, and nutritious meals to be significantly related to psychological distress. Psychological distress was more prevalent among people with low income and in younger generations than among other groups. There is an urgent need to provide financial, medical, and social support to those affected by the coronavirus disease 2019 (COVID-19) pandemic.

Background Platforms for sharing genomic and phenotype data have been developed to promote genomic research, while maximizing the utility of existing datasets and minimizing the burden on participants. The value of genomic analysis of trios or family members has increased, especially in rare diseases and cancers. This article aims to argue the necessity of protection when sharing data from both patients and family members. Main text Sharing patients’ and family members’ data collectively raises an ethical tension between the value of datasets and the rights of participants, and increases the risk of re-identification. However, current data-sharing policies have no specific safeguards or provisions for familial data sharing. A quantitative survey conducted on 10,881 general adults in Japan indicated that they expected stronger protection mechanisms when their family members’ clinical and/or genomic data were shared together, as compared to when only their data were shared. A framework that respects decision-making and the right of withdrawal of participants, including family members, along with ensuring usefulness and security of data is needed. To enable this, we propose recommendations on ancillary safeguards for familial data sharing according to the stakeholders, namely, initial researchers, genomic researchers, data submitters, database operators, institutional review boards, and the public and participants. Conclusions Families have played significant roles in genetic research, and its value is re-illuminated in the era of genomic medicine. It is important to make progress in data sharing while simultaneously protecting the privacy and interests of patients and families, and return its benefits to them.

Objectives This study examines the dissemination of Honnintsuchiseido (a system of providing notifications to citizens that a municipality issued a copy of resident record to a third party) in Japan and its effect on the use of copies of resident record for academic research.Methods In February and March 2015, a telephone survey was conducted in 1,741 municipalities (including special wards) in Japan. The survey examined the implementation of Honnintsuchiseido and standards for issuing copies of resident record for academic research in the municipalities. Further, we analyzed the implementation of Honnintsuchiseido and the results of requests for issuing copies of resident record for the Biobank Japan (BBJ) project.Results The results found that 28.9% of the municipalities had already introduced Honnintsuchiseido. Approximately 85% of the municipalities responded that their each official judged the issuance of copies of resident record for academic research based on a handbook of paperwork for the Basic Resident Registration. Further, approximately 14% responded that they had common definite standards in their officials for judging the issuance of copies of resident record for academic research. One of the main reasons for the refusal to issue copies of resident record in the BBJ project was that the consent form of the project did not specify the use of the resident record. In addition, some municipalities refused because the standards for judgments were revised with the implementation of Honnintsuchiseido. However, there was no significant association between the introduction of Honnintsuchiseido and the refusal to issue copies of resident record for the BBJ project.Conclusions Some municipalities refused to issue copies of resident record because the standards were revised with the implementation of Honnintsuchiseido. Further, many municipalities did not have any common specific criteria for judging the issuance of copies of resident record for academic purposes. Therefore, specific standards should be formulated to clarify the type of research having public interest, which will support the judgment of municipalities regarding the issuance of copies of resident record for academic research.

Background We established a patient-oriented biobank, BioBank Japan, with information on approximately 200,000 patients, suffering from any of 47 common diseases. This follow-up survey focused on 32 diseases, potentially associated with poor vital prognosis, and collected patient survival information, including cause of death. We performed a survival analysis for all subjects to get an overview of BioBank Japan follow-up data. Methods A total of 141,612 participants were included. The survival data were last updated in 2014. Kaplan–Meier survival analysis was performed after categorizing subjects according to sex, age group, and disease status. Relative survival rates were estimated using a survival-rate table of the Japanese general population. Results Of 141,612 subjects (56.48% male) with 1,087,434 person-years and a 97.0% follow-up rate, 35,482 patients died during follow-up. Mean age at enrollment was 64.24 years for male subjects and 63.98 years for female subjects. The 5-year and 10-year relative survival rates for all subjects were 0.944 and 0.911, respectively, with a median follow-up duration of 8.40 years. Patients with pancreatic cancer had the least favorable prognosis (10-year relative survival: 0.184) and patients with dyslipidemia had the most favorable prognosis (1.013). The most common cause of death was malignant neoplasms. A number of subjects died from diseases other than their registered disease(s). Conclusions This is the first report to perform follow-up survival analysis across various common diseases. Further studies should use detailed clinical and genomic information to identify predictors of mortality in patients with common diseases, contributing to the implementation of personalized medicine., Highlights • 141,612 participants with any of 32 diseases were included in the follow-up survey. • Subject characteristics at enrollment for the follow-up survey were identified. • The relative survival analysis showed the worst prognosis in pancreatic cancer. • The most common cause of death in all subjects was malignant neoplasms.

Background Evidence of characteristics of Japanese patients with diabetes from a large-scale population is necessary. Few studies have compared glycaemic controls, complications and comorbidities between type 1 and 2 diabetic patients. This paper focuses on illustrating a clinical picture of Japanese diabetic patients and comparing glycaemic control and prognoses between type 1 and 2 diabetes using multi-institutional data. Methods The BioBank Japan Project enrolled adult type 1 and 2 diabetic patients between fiscal years 2003 and 2007. We have presented characteristics, controls of serum glucose, cholesterol and blood pressure, prevalence of complications and comorbidities and survival curves. We have also shown glycaemic controls according to various individual profiles of diabetic patients. Results A total of 558 type 1 diabetic patients and 30,834 type 2 diabetic patients participated in this study. The mean glycated haemoglobin A1c was higher in type 1 diabetes than in type 2 diabetes. In the type 1 diabetic patients, the glycated haemoglobin A1c had no consistent trend according to age and body mass index. The Kaplan–Meier estimates represented a longer survival time from baseline with type 1 diabetes than with type 2 diabetes. Compared with type 1 diabetic patients, type 2 diabetic patients had double the prevalence of macrovascular complications. Conclusions This work has revealed detailed plasma glucose levels of type 1 and 2 diabetic patients according to age, body mass index, blood pressure, serum cholesterol levels and smoking and drinking habits. Our data have also shown that the prognosis is worse for type 2 diabetes than for type 1 diabetes in Japan., Highlights • Detailed glycaemic control data of diabetic patients are necessary. • Few studies have compared the survival times between type 1 and 2 diabetes. • Higher glycated HbA1c was observed in type 1 than in type 2 diabetes. • Data showed higher hazard ratio of mortality in type 1 than in type 2 diabetes. • Fewer macrovascular complications accompany type 1 than type 2 diabetes.

Background To implement personalized medicine, we established a large-scale patient cohort, BioBank Japan, in 2003. BioBank Japan contains DNA, serum, and clinical information derived from approximately 200,000 patients with 47 diseases. Serum and clinical information were collected annually until 2012. Methods We analyzed clinical information of participants at enrollment, including age, sex, body mass index, hypertension, and smoking and drinking status, across 47 diseases, and compared the results with the Japanese database on Patient Survey and National Health and Nutrition Survey. We conducted multivariate logistic regression analysis, adjusting for sex and age, to assess the association between family history and disease development. Results Distribution of age at enrollment reflected the typical age of disease onset. Analysis of the clinical information revealed strong associations between smoking and chronic obstructive pulmonary disease, drinking and esophageal cancer, high body mass index and metabolic disease, and hypertension and cardiovascular disease. Logistic regression analysis showed that individuals with a family history of keloid exhibited a higher odds ratio than those without a family history, highlighting the strong impact of host genetic factor(s) on disease onset. Conclusions Cross-sectional analysis of the clinical information of participants at enrollment revealed characteristics of the present cohort. Analysis of family history revealed the impact of host genetic factors on each disease. BioBank Japan, by publicly distributing DNA, serum, and clinical information, could be a fundamental infrastructure for the implementation of personalized medicine., Highlights • The BioBank Japan Project (BBJ) annually collected clinical information. • Analysis of the clinical information at enrollment characterized the BBJ cohort. • Analysis of family history revealed impacts of host genetic factors on the diseases.

Background Statins are the first-line agents used to treat patients with high serum low-density lipoprotein cholesterol levels, thus reducing the risk of death from arterial sclerotic cardiovascular disease; however, little is known about the effects of non-statin pharmacological interventions on mortality as well as about the potential protective effects of statin use against cancer death. This work aimed to compare all-cause and cancer mortality among patients with hyperlipidaemia who did and did not receive statin treatment. Methods Between 2003 and 2007 fiscal years, we recruited Japanese patients diagnosed with hyperlipidaemia from 66 hospitals. Patients in our cohort were followed up for a maximum of 12 years to observe the causes of death. Kaplan–Meier estimates from the baseline were used to compare the mortality of patients based on the administered medicine. All-cause mortality were compared among patients with/without administration of statins and other agents; any-organ and colorectal cancer mortality were compared between patients with/without administration of statins. Results Our cohort included 41,930 patients with mean ages of 64–66 years and mean body mass indices of 24–25 kg/m2. Patients who received statin monotherapy and were treated with lifestyle modification exhibited nearly identical survival curves, whereas statin use represented a non-significant but potentially protective effect against colorectal cancer-related mortality. The lowest mortality in this cohort was associated with resin monotherapy. Conclusions Mortality rate has been similar for patients treated with statin monotherapy and lifestyle modification. Statin monotherapy could potentially reduce any-organ- and colorectal cancer-related mortality., Highlights • Statin-mediated reduction of low-density lipoprotein levels reduces mortality. • Little is known on the effect of non-statin hyperlipidaemia medicines on mortality. • Statin monotherapy is safe in terms of cancer mortality. • Statin use may reduce colorectal cancer-related mortality. • Resin monotherapy was associated with the lowest mortality.

Background Several studies have evaluated associations between the characteristics of patients with esophageal and gastric cancer and survival, but these associations remain unclear. We described the distribution of demographic and lifestyle factors among patients with esophageal and gastric cancer in Japan, and investigated their potential effects on survival. Methods Between 2003 and 2007, 24- to 95-year-old Japanese patients with esophageal and gastric cancer were enrolled in the BioBank Japan Project. The analysis included 365 patients with esophageal squamous cell carcinoma (ESCC) and 1574 patients with gastric cancer. Hazard ratios (HRs) and 95% confidence intervals (CIs) for mortality were estimated using medical institution-stratified Cox proportional hazards models. Results During follow-up, 213 patients with ESCC (median follow-up, 4.4 years) and 603 patients with gastric cancer (median follow-up, 6.1 years) died. Among patients with ESCC, the mortality risk was higher in ever drinkers versus never drinkers (multivariable HR = 2.37, 95% CI: 1.24, 4.53). Among patients with gastric cancer, the mortality risk was higher in underweight patients versus patients of normal weight (multivariable HR = 1.66, 95% CI: 1.34, 2.05). Compared to patients with gastric cancer with no physical exercise habit, those who exercised ≥3 times/week had a lower mortality risk (multivariate HR = 0.75, 95% CI = 0.61, 0.93). However, lack of stage in many cases was a limitation. Conclusions Among patients with ESCC, alcohol drinkers have a poor prognosis. Patients with gastric cancer who are underweight also have a poor prognosis, whereas patients with physical exercise habits have a good prognosis., Highlights • Among ESCC patients, alcohol drinkers had a poor prognosis. • Underweight gastric cancer patients had a poor prognosis. • Gastric cancer patients who exercised had a good prognosis. • No association between esophageal or gastric cancer and smoking was observed.