The aim of this study was to assess public attitudes toward the promotion of genomic studies related to medicine and to examine the relationship between public attitudes and the level of genomic literacy by analyzing data from a nationwide opinion survey. The participants comprised 4,000 people (age, 20-69) selected from the Japanese general population by using the two-step stratified random sampling method. They were queried on the following topics in a mail survey: (1) pros and cons of the promotion of genomic studies related to medicine, (2) level of scientific literacy in genomics, (3) demographic and socioeconomic background, and (4) knowledge and attitudes toward science in general and genetic testing in particular. We examined the relationship between the approval of promotion and literacy level, using logistic regression models stratified by gender. Our results showed the response rate was 54.3% (2,171/4,000), and 69.4% participants favored the promotion of genomic studies related to medicine. Only 1.3% participants expressed a negative attitude. Multivariate analysis revealed that approval of promotion was related to a high literacy score. This relationship was stronger in males than in females (the highest quartile of score vs. the lowest: adjusted odds ratio, 3.36 for males and 1.86 for females; 95% confidence interval, 1.88-5.98 for males and 1.17-2.95 for females). We determined that a majority of the Japanese participants currently approved of the promotion of genomic studies related to medicine and that people with a high level of genomic literacy tended to approve the promotion.

Dynamic consent (DC) is an approach to consent that enables people, through an interactive digital interface, to make granular decisions about their ongoing participation. This approach has been explored within biomedical research, in fields such as biobanking and genomics, where ongoing contact is required with participants. It is posited that DC can enhance decisional autonomy and improve researcher–participant communication. Currently, there is a lack of evidence about the measurable effects of DC-based tools. This article outlines a framework for DC evaluation and reporting. The article draws upon the evidence for enhanced modes of informed consent for research as the basis for a logic model. It outlines how future evaluations of DC should be designed to maximize their quality, replicability, and relevance based on this framework. Finally, the article considers best-practice for reporting studies that assess DC, to enable future research and implementation to build upon the emerging evidence base.

As of 2008, surrogacy is legal and openly practised in various places; Japan, however, has no regulations or laws regarding surrogacy. This paper reports the situation of surrogacy in Japan and in five other regions (the USA, the UK, Taiwan, Korea and France) to clarify the pros and cons of prohibiting surrogacy, along with the problems and issues relating to surrogacy compensation. Not only in a country such as France that completely prohibits surrogacy within the country, but also in a country such as the UK that allows non-commercial surrogacy, infertile couples travel overseas for the purpose of surrogacy. In addition, some couples might seek underground surrogacy if the government prohibits surrogacy. If an intended parent couple and a surrogate make an agreement among themselves and then a problem occurs, they cannot ask for support from professionals or bring a case to court, as can be observed in South Korea and Taiwan. We also conclude that there is little difference between commercial surrogacy and non-commercial surrogacy in the absence of a clear definition of 'reasonable expenses.' In the UK, the law does not allow surrogates to receive compensation. However, in reality, there may be little difference between the amounts paid to surrogates for profit in the US and those paid to surrogates for reasonable expenses in the UK. We conclude that the issue of surrogacy demands further discussion in Japan.

Introduction Many patients with rare diseases experience a diagnostic delay. Although several quantitative studies have been reported, few studies have used a qualitative approach to directly examine how patients with rare disease obtain a diagnosis and why it takes many years. In this study, we focused on hereditary angioedema (HAE), which has been reported to have long diagnostic delays, despite the knowledge that not having an accurate diagnosis can cause life-threatening problems. Objective The objective of this study was to analyze patients’ experiences and elucidate why it takes a long time to reach a diagnosis of HAE. We also aimed to propose possible solutions for the problem. Methods A qualitative study using semi-structured interviews was conducted. Nine patients who took over 5 years from the presentation of initial symptoms to an HAE diagnosis participated. The contents of the interviews were subjected to an inductive contents analysis. Results By analyzing the patients’ struggles that were experienced during the undiagnosed period, three themes were generated: (1) acceptance and resignation towards their conditions, (2) proactive search for a cause, and (3) independent efforts outside of the hospital. While a few patients continued to seek out a diagnosis during the undiagnosed period, many had become accustomed to their health condition without suspecting a rare disease. Conclusions We found that one of the most important factors related to the prolonged undiagnosed period is the lack of suspicion of a rare disease by patients and their medical professionals. While current policies tend to focus on the period from suspecting rare diseases to the time of a clear diagnosis, our results strongly suggest that measures are needed to facilitate patients and clinicians to become aware of rare diseases.