Background Down syndrome (DS) is the most frequent chromosomal condition; however, knowledge about associated health issues in adulthood is inadequate. We aimed to obtain health information from Japanese adults with DS. MethodsWe conducted a retrospective chart review of 151 patients with DS who visited the Internal Medicine Outpatient Department of the Tokyo Metropolitan Kita Medical and Rehabilitation Center for the Disabled. ResultsEndocrine disorders, such as obesity, hyperlipidemia, and hyperuricemia, were most common in both adulthood (≤ 40 years) and senescence (> 40 years), whereas neurological diseases were more prevalent in senescence. Even patients with DS in their 20s or younger had multimorbidity that increased with age. Only 21 patients (13.9%) with DS visited our hospital with referral letters from pediatricians; 94 patients (62.3%) visited without referral letters from other medical institutions. Patients without a referral letter had a mean of 3.1 comorbidities per patient.Moreover, medical care for people with DS was interrupted during childhood in some cases.Conclusions From our results, to prevent and detect comorbidities in patients with DS, there is need for continuous medical care from childhood to adulthood. Recently, individuals with DS have been diagnosed using chromosome testing and genetic counseling. Clinical geneticists and genetic counselors can support patients with DS and their caregivers in achieving appropriate health care and well-being on their own by seamlessly engaging them throughout childhood and adulthood.

Empathy is an important element of genetic counseling. Most genetic counselors acknowledge the significance of empathically engaging clients. However, few empirical studies have focused on the empathy experience of genetic counselors, especially in non‐Western countries. This study aimed to investigate Japanese genetic counselors’ perspectives on the concept of empathy in clinical practice. The study conducted semi‐structured interviews with Japanese certified genetic counselors who had approximately 10 years of clinical experience. Fourteen participants were interviewed about their thoughts on empathy and their experiences wherein they had deeply understood clients or felt closer to them. The interview data were analyzed using grounded theory. As a result, 17 categories were extracted, of which 13 were integrated into three themes of empathy: the empathic cycle in the relationships between genetic counselors and clients (cycling), the process of forming a deeper understanding of a client's perspectives (feeling), and the process of developing skills to understand clients with empathy (developing). The remaining four categories were grouped into the theme of “challenges of empathy.” The categories included in the first three themes were similar to previous findings in Western countries, whereas some categories of challenges of empathy were unique to this study, which was conducted in a non‐Western country. This might be attributed to the influence of Japanese culture, in which people emphasize self‐regulation and an interdependent‐self model. To our knowledge, this study is the first to report on Japanese certified genetic counselors’ experiences of empathy. This study concludes with some suggestions for future research, including focusing on ways to overcome challenges of empathy in countries or healthcare systems.

The rapidly increasing availability of genetic testing is driving the acceleration of genetic counseling implementation. Empathy is important in medical encounters in general and forms a core component of a successful genetic counseling session; however, empirical evidence on empathy in genetic counseling is minimal. This study aimed to explore the perceptions of empathy in simulated genetic counseling consultations from the perspectives of clients and genetic counselors. Semi-structured interviews and interpersonal process recall were used with participants of simulated genetic counseling consultations to elicit their experiences of empathy. A constructivist grounded theory was used for data analysis. A total of 15 participants, including 10 clients and 5 genetic counselors, participated in 10 simulated counseling sessions. The genetic counselors attempted to demonstrate empathy and were sensitive toward detecting changes in clients. Meanwhile, the clients’ perceptions represented their feelings and thoughts elicited through the counselors’ empathic approaches. This was the first process study to examine empathy in simulated genetic counseling sessions. Our model of communication of empathy is a process in which counselors try to address implicit aspects of clients, and clients are provided with time and a safe place for introspection, which contributes to discussions on building good relationships with patients. There is also a suggestion of the utility of simulated consultations for healthcare providers to learn empathic communication.

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In Japan, cancer education has been initiated with children as a measure against cancer. Cancer genome medicine, which is a social implementation, includes aspects of genetic medicine. For this reason, it is assumed that content related to "genetics" is also necessary in cancer education. To investigate the actual situation regarding the teaching of genetics in cancer education, we conducted a questionnaire survey of schoolteachers involved in cancer education; these schoolteachers belonged to the model school of the Cancer Education Comprehensive Support Project. Regarding genetics content, we asked questions related to two aspects: “the molecular genetic mechanisms of cancer” and “the phenomenon of sharing cancer in the family.” The results showed that about 60% of the teachers had experience teaching content related to “the molecular genetic mechanisms of cancer” and “the phenomenon of sharing cancer in the family.” While many teachers felt that teaching genetics in cancer education was necessary, they also felt that there were difficulties in doing so: 65.2% for content related to "the molecular genetic mechanisms of cancer " and 70.8% for that related to “the phenomenon of sharing cancer in the family.” It is important to properly treat cancer as a genetic disease, and it is necessary to examine government curriculum guidelines and establish a collaborative system among other subjects. In addition, the involvement of specialists in genetic medicine and psychosocial support is expected to improve teachers’ genetic literacy as well as to communicate with students with consideration for their family history.