Risk-Adjusted Cancer Screening and Prevention (RiskAP): Complementing Screening for Early Disease Detection by a Learning Screening Based on Risk Factors

BackgroundRisk-adjusted cancer screening and prevention is a promising and continuously emerging option for improving cancer prevention. It is driven by increasing knowledge of risk factors and the ability to determine them for individual risk prediction. However, there is a knowledge gap between evidence of increased risk and evidence of the effectiveness and efficiency of clinical preventive interventions based on increased risk. This gap is, in particular, aggravated by the extensive availability of genetic risk factor diagnostics, since the question of appropriate preventive measures immediately arises when an increased risk is identified. However, collecting proof of effective preventive measures, ideally by prospective randomized preventive studies, typically requires very long periods of time, while the knowledge about an increased risk immediately creates a high demand for action.SummaryTherefore, we propose a risk-adjusted prevention concept that is based on the best current evidence making needed and appropriate preventive measures available, and which is constantly evaluated through outcome evaluation, and continuously improved based on these results. We further discuss the structural and procedural requirements as well as legal and socioeconomical aspects relevant for the implementation of this concept.     

Current status and legal/ethical problems in the research use of the tissues of aborted human fetuses in Japan

To date, there is no law regulating the research use of human aborted fetuses in Japan. The aim was to review the current status with historical background and legal/ethical problems limiting the research use of the tissues of aborted human fetuses. We reviewed literature via PubMed, Web of Science, Scopus, Japana Centra Revuo Medicina and CiNii, reports from various committees and research groups from Ministry of Health, Labour and Welfare (MHLW), and domestic books. Aborted human fetal tissues used for research purposes were first documented in the 1920s. The first guideline, the Peel Code was released in 1972. Since then, in Western countries, the research use of aborted fetuses has been less restricted compared with that of embryos, due to the following guidelines outlined by expert groups. Currently, aborted fetal tissues are commercially available for research purposes in the United States. In Japan, only four indications are presented in “a public statement permitting research use of deceased fetuses' and ‘neonates’ organs, etc.” (1987). In the 2000s, expert committees of the MHLW concluded that research use of human aborted fetuses should be discontinued, and that comprehensive rules and independent regulations should be implemented. This issue has not been discussed in the Japanese legislature since 2003. Establishment of laws and guidelines for this issue is insufficient not only in Japan but also in other countries. It is important to secure transparency for making laws and guidelines and in obtaining public understanding.     

Comprehensive genetics clinic for familial tumors: proposal for a suitable system in Japan

With the progress of the Human Genome Project, genetic testing has become widely available and useful in several kinds of familial cancer. As the results of the genetic testing may predict future onset of the disease and/or may influence other family members, clinical oncologists have to consider the psychological challenges and ethical complexities of communicating hereditary cancer risk information to families. A clinical genetics approach, including genetic counseling, is fundamental before and after the genetic testing. We introduce our activity at the Division of Clinical and Molecular Genetics, Shinshu University Hospital. Our system of a multidisciplinary approach to genetic counseling could be suitable for other hospitals in Japan.     

Parents’ decision-making regarding whether to receive adult-onset only genetic findings for their children: Findings from the BabySeq Project

PurposeMost professional guidelines recommend against genetic screening for adult-onset only (AO) conditions until adulthood, yet others argue that there may be benefit to disclosing such results. We explored parents’ decision-making on this issue in the BabySeq Project, a clinical trial of newborn genomic sequencing.MethodsWe conducted interviews with parents (N = 24) who were given the option to receive actionable AO results for their children. Interviews explored parents’ motivations to receive and reasons to decline AO genetic disease risk information, their decision-making process, and their suggestions for supporting parents in making this decision.ResultsParents noted several motivations to receive and reasons to decline AO results. Most commonly, parents cited early intervention/surveillance (n = 11), implications for family health (n = 7), and the ability to prepare (n = 6) as motivations to receive these results. The most common reasons to decline were protection of the child’s future autonomy (n = 4), negative effect on parenting (n = 3), and anxiety about future disease (n = 3). Parents identified a number of ways to support parents in making this decision.ConclusionResults show considerations to better support parental decision-making that aligns with their values when offering AO genetic information because it is more commonly integrated into pediatric clinical care.     

The use of biomarkers in occupational health research, practice, and policy

Biomarkers are potentially useful tools for occupational health and safety research, practice, and policy. However, the full realization of this potential has not been achieved. In this paper, the progress made in these three usage areas is reviewed to identify what efforts can be taken to realize the full promise of biomarkers. Biomarker uses are described by a diverse taxonomy that builds on the categories of exposure, effect and susceptibility, and the continuum between exposure and disease prognosis. The most significant uses of biomarkers in occupational health have been in biological monitoring of workers. Other important uses have been in enhancing research and assessing mechanisms of action of occupational toxicants at low exposures. Seven critical areas will influence the extent to which the potential of biomarkers in occupational health and safety is realized. These include: (1) adequate investment in validation; (2) obtaining international agreement on exposure guidelines; (3) exploring the utility of biomarkers in regulation; (4) applying biomarkers to critical occupational safety and health questions; (5) developing the exposome; (6) utilizing biomarkers to address emerging occupational health issues; and (7) continuing to address the ethical and social justice issues related to biomarkers. Overall, if biomarkers are to make a major contribution to occupational health and safety then a more holistic approach to bringing them from the laboratory to practice will be needed.     

Korean attitudes to Xenotransplantation: a survey conducted in 2009

Mo H, Kwon I. Korean attitudes to Xenotransplantation: a survey conducted in 2009. Xenotransplantation 2010; 17: 391–395. © 2010 John Wiley & Sons A/S. Abstract: Background: Xenotransplantation research has been being actively conducted in Korea. However, there are numbers of socio‐ethical issues involved in this research, and it is necessary to know public attitudes toward the research, inducing “public consensus” for the sound development of the technology. Materials and methods: A telephone survey consisting of 10 questionnaire items was conducted to investigate the attitudes of Koreans on social and ethical issues related to xenotransplantation. Participants were randomly selected in proportion to the 2009 Korean population census. The response rate was 22.3%. Finally, 500 sets of data were collected and analyzed with SPSS^® 12. A statistical analysis was performed using the chi‐square test. Results: In the first phase of the study, 69.8% of the respondents were positive about xenotransplantation while 29.0% were negative. However, after being informed of the specific benefit and risk, 58.4% of the respondents stated that xenotransplantation research should be continued, while 38.6% of them indicated that these studies should be prohibited; 63.0% of the respondents agreed with lifelong surveillance after xenotransplantation, while 34.0% disagreed. To avoid triggering immune response in the transplantees, 63.0% of the respondents also approved of the necessity of genetic modification of pigs. If xenotransplantation proves to be safe, 56.8% of the respondents said that they would accept it if necessary; 69.8% of the respondents would recommend it for their family members and friends as a therapeutic option if they are in need. Men were more positive than women about the necessity of animal experimentation for xenotransplantation research, the necessity of lifelong surveillance, and the necessity of genetic modification of pigs. There was no significant difference between the religious and non‐religious group except about the issue of lifelong surveillance. Conclusion: Korean people have relatively positive attitudes toward xenotransplantation research and animal experiments regarding xenotransplantation.     

Ethical,legal and social implications of human genome studies in radiation research: a workshop report for studies on atomic bomb survivors at the Radiation Effects Research Foundation

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.