Exploring the principles of logotherapy in genetic counseling: Enhancing decision-making, adaptation, and justice [0.03%]
探析遗传咨询中的意义疗法原则：增强决策力、适应性和公正性
Nour Chanouha,Anna Chassevent,Ellen F Macnamara et al.
Nour Chanouha et al.
Logotherapy is a psychological approach originated by Viktor Frankl, shaped by the thesis that meaning can be discovered even in the most tragic of human circumstances, and through a human's will-to-meaning, that individuals have both freed...
Characterizing psychosocial assessments across genetic counseling sessions through qualitative content analysis [0.03%]
基于定性内容分析的心理社会评估在基因咨询会话中的特征研究
Kayla Ruiz,Anjali Narain,Thuy-Mi P Nguyen et al.
Kayla Ruiz et al.
Although psychosocial support and assessment is a required competency of genetic counselors (GCs), how the psychosocial assessment is actualized in sessions is not well studied. We aimed to describe the landscape of psychosocial assessments...
Intersex community perspectives on prenatal sex chromosome screening: "It silences intersex" [0.03%]
关于产前染色体筛查的间性人社区观点：“这使间性人的声音沉默了”
Louis Canavan,Darius Haghighat,Kaitlyn Brown et al.
Louis Canavan et al.
Intersex individuals and/or individuals with variations in sex characteristics (VSC)/differences in sex development (DSD), who will be referred to from this point forward as individuals with I/VSC, have sex characteristics that do not fit w...
Developing a primer for communicating about penetrance, expressivity, and genotype-phenotype correlation of R117H and the poly-T tract in CFTR [0.03%]
CFTR基因R117H和多T密码子嵌顿的外显率、表现度和基因型表型关系的交流指南的制定
Karen S Raraigh,Jessica R Balcom,Elinor Langfelder-Schwind
Karen S Raraigh
Variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which causes cystic fibrosis, have become increasingly well-characterized in recent decades. However, clinicians remain challenged by CFTR variants that result...
Situating genetic counseling research: The role of the sociopolitical climate in research production and interpretation [0.03%]
遗传咨询研究中的社会政治气候作用机制及其研究生产和解释
Kimberly Zayhowski,Daniela Diaz Caro,Rozalia Valentine et al.
Kimberly Zayhowski et al.
Genetic testing as moral technology: Navigating legitimacy, uncertainty, and access in rare disease diagnosis [0.03%]
基因检测作为道德技术：罕见病诊断中的合法性、不确定性与可及性问题探讨
Nicolás Schöngut-Grollmus,Dolores Steverlynck,Gabriela Repetto
Nicolás Schöngut-Grollmus
Genetic testing is often portrayed as a neutral tool for clinical clarification. However, in the context of rare diseases, it plays a far more complex role in the moral, bureaucratic, and social experiences of patients and families. Drawing...
Representation of skin tone: The use of medical imagery in the genetic counseling profession [0.03%]
皮肤色调的代表性：遗传咨询行业对医学影像的应用
Lawri Sanders,Karen Mary Davalos,Iman Kashmola-Perez et al.
Lawri Sanders et al.
The utilization of medical imagery featuring human bodies is a common practice in educational settings and patient interactions. However, these images predominantly depict white bodies and lighter skin tones, raising questions about their i...
Genetic counselors' perspectives on social determinant of health information and its potential impact on the counseling session [0.03%]
遗传咨询师对社会健康决定因素信息及其潜在影响的见解
Sarah Fittanto,Alison La Pean Kirschner,Michael Levas et al.
Sarah Fittanto et al.
Social Determinants of Health (SDoH), such as education level, housing status, lived environment, and socioeconomic status, can create obstacles to accessing healthcare services, particularly for minoritized people and individuals with chro...
Development and acceptability of a support intervention for families after sudden cardiac death in the young [0.03%]
一项针对年轻突发心脏死亡患者家庭的支持干预的制定及可行性研究
Laura Yeates,Amy Baker,Karen Gardner et al.
Laura Yeates et al.
Sudden cardiac death (SCD) in the young (
Telegenetics in India: A 3-year review of 938 appointments and patient-clinician perspectives [0.03%]
印度的远程遗传学：938次预约的三年回顾及患者-临床医生视角
Shruti Bajaj,Tasneem Shaikh,Niharika Jadeja
Shruti Bajaj
Telemedicine holds promise to improve accessibility of subspecialties of medicine, including clinical genetics; however, limited physical examination, technical issues, and psychosocial challenges are well-reported limitations. "Hybrid" tel...