Genetic and Environmental Influences on Personal and Rhythmic‐Motor‐Activity Tempo in Children: A Twin Study

In this study, we investigated the degree to which genetics and environmental factors influence the tempo and tempo stability of rhythmic motor activity in young children, using a twin study design. A total of 116 twin children, aged 4 years, were asked to strike two small clash cymbals together in a cyclical manner, in three phases. In the first phase, children were asked to maintain a comfortable personal tempo of rhythmic motor activity (spontaneous motor phase). In contrast, in the other phases, children were required to synchronize rhythmic motor activity in response to the timing of a stimulus tone, or a memorized tempo. Large additive genetic, although negligible shared environmental influences, were observed in the spontaneous motor phase. However, environmental factors were estimated in the other two phases, while the additive genetic factor was nearly zero. These results indicate that the extent of genetic and environmental influences on individual differences in rhythmic motor activity can be modulated under different situations.     

Beyond Consent: Building Trusting Relationships With Diverse Populations in Precision Medicine Research

With the growth of precision medicine research on health data and biospecimens, research institutions will need to build and maintain long-term, trusting relationships with patient-participants. While trust is important for all research relationships, the longitudinal nature of precision medicine research raises particular challenges for facilitating trust when the specifics of future studies are unknown. Based on focus groups with racially and ethnically diverse patients, we describe several factors that influence patient trust and potential institutional approaches to building trustworthiness. Drawing on these findings, we suggest several considerations for research institutions seeking to cultivate long-term, trusting relationships with patients: (1) Address the role of history and experience on trust, (2) engage concerns about potential group harm, (3) address cultural values and communication barriers, and (4) integrate patient values and expectations into oversight and governance structures.     

冠脉介入治疗时期氯吡格雷抵抗的认识与思考——抓住本质，全面获益

急性冠脉综合征已步入药物洗脱支架进行血运重建的时期,双联抗血小板治疗是接受PCI治疗的常规手段。临床发现部分患者不能从氯吡格雷治疗中获益,存在氯吡格雷抵抗的现象。笔者就氯吡格雷抵抗的发生机制、临床意义及治疗对策进行描述,反映相关研究的趋势和方向,为未来更优化抗血小板治疗提出一种策略。     

Gene Doping and the Responsibility of Bioethicists

In this paper we will argue: (1) that scholars, regardless of their normative stand against or for genetic enhancement indeed have a moral/professional obligation to hold on to a realistic and up-to-date conception of genetic enhancement; (2) that there is an unwarranted hype surrounding the issue of genetic enhancement in general, and gene doping in particular; and (3) that this hype is, at least partly, created due to a simplistic and reductionist conception of genetics often adopted by bioethicists.     

Threat to Parental Role: A Possible Mechanism of Altered Self-Concept Related to Carrier Knowledge

Researchers and clinicians have suggested that learning one is a carrier for a genetic disorder has the potential to alter self-concept. Concerns about self-concept have influenced the development of policies regarding the availability of carrier testing for minors and the informed-consent process. A literature review identified three mechanisms through which self-concept has been proposed to be affected: altered perception of genetic identity, diminished social identity, and an altered perception of health. This paper presents a conceptual framework developed from identity theory and the self's response to threat to propose a fourth mechanism: threat to the parental role. Clarification of the role of self-concept, the threat to self-concept related to carrier knowledge, and coping behaviors activated in response to this threat would help to target appropriate genetic counseling interventions.     

Exploring Genetic Counseling Communication Patterns: The Role of Teaching and Counseling Approaches

The educational and counseling models are often touted as the two primary professional approaches to genetic counseling practice. Yet, research has not been conducted to examine how these approaches are used in practice. In the present study, we conducted quantitative communication analyses of BRCA1 genetic counseling sessions. We measured communication variables that represent content (e.g., a biomedical focus) and process (e.g., passive listening) to explore whether genetic counselor approaches are consistent with prevailing professional models. The Roter Interaction Analysis System (RIAS) was used to code 167 pre-test genetic counseling sessions of members of a large kindred with an identified BRCA1 mutation. Three experienced genetic counselors conducted the sessions. Creating composite categories from the RIAS codes, we found the sessions to be largely educational in nature with the counselors and clients devoting the majority of their dialogue to providing biomedical information (62 and 40%, respectively). We used cluster analytic techniques, entering the composite communication variables and identified four patterns of session communication: Client-focused psychosocial, biomedical question and answer, counselor-driven psychosocial, and client-focused biomedical. Moreover, we found that the counselors had unique styles in which they combined the use of education and counseling approaches. We discuss the importance of understanding the variation in counselor communication to advance the field and expand prevailing assumptions.     

Midwives’ Approach to Genetic Diseases and Genetic Counseling in Denizli, Turkey

The purpose of this study was to evaluate Denizli midwives’ self-reported knowledge of genetic diseases and genetic counseling. Data was collected on forms that obtained information about midwives approaches to basic genetics, genetic disorders, and genetic counseling (response rate = 70.1%). The highest response rate of midwives describing themselves as “knowledgeable” about basic genetic information was for mitosis and meiosis with 4.8%, about genetic disorders was for phenylketonuria with 61.1%, and about genetic counseling was for recommending ultrasonography during pregnancy with 98.1%. The source for basic genetics information for 56.4% of participants was in their school level classes. None of the midwives felt that they had sufficient knowledge about genetic counseling or screening and 76.4% would like to attend an educational course. Even though the midwives have recognized their knowledge deficit they occasionally give genetic counseling. As a result of this study a genetics course is planned for midwives so they can actively participate in the prevention and early diagnosis of genetic diseases.     

Spiritual Coping, Family History, and Perceived Risk for Breast Cancer—Can We Make Sense of it?

Differences in spiritual beliefs and practices could influence perceptions of the role of genetic risk factors on personal cancer risk. We explored spiritual coping and breast cancer risk perceptions among women with and without a reported family history of breast cancer. Analyses were conducted on data from 899 women in primary care clinics who did not have breast cancer. Structural equation modeling (SEM), linear, and logistic modeling tested an interaction of family history of breast cancer on the relationship between spiritual coping and risk perceptions. Overall analyses demonstrated an inverse relationship between spiritual coping and breast cancer risk perceptions and a modifying effect of family history. More frequent spiritual coping was associated with lower risk perceptions for women with positive family histories, but not for those with negative family histories. Results support further research in this area that could influence communication of risk information to cancer genetic counseling patients.     

Commentary on Becoming a Daughter: Trauma is a Powerful Teacher

Personal life crises profoundly impact genetic counselor practice. In this commentary, themes from Matloff’s (in press) article, Becoming a Daughter are highlighted and expanded upon. These themes include: personal impact of a life crisis, and professional impact vis a vis empathy countertransference, self-disclosure, nondirectiveness, and self-confidence. Strategies that help genetic counselors manage personal life crises within their clinical practice and also promote their professional development are emphasized, including normalization of life crises, self-reflection, boundary-setting, and use of peer supervision and consultation.