Inclusion of adoption as a pregnancy management option in prenatal genetic counseling practice [0.03%]
产前遗传咨询中纳入收养作为妊娠管理选择
Emma Billings,Leslie Dunnington,Meagan Choates et al.
Emma Billings et al.
The current study assessed prenatal genetic counselors' experiences, comfort levels, and preparedness in discussing adoption as a pregnancy management option following a prenatal diagnosis of a non-life-limiting anomaly and/or genetic condi...
Self-efficacy of genetic counselors and genetic counseling students using the Korean genetic counseling self-efficacy scale [0.03%]
韩国遗传咨询自我效能量表中遗传咨询师和遗传咨询学生的自我效能感
In Hee Choi,Sunhee Tak,Su Min Ji et al.
In Hee Choi et al.
This study applied the Korean version of the Genetic Counseling Self-Efficacy Scale (K-GCSES) to compare self-efficacy between certified genetic counselors and master's-level genetic counseling students in South Korea and examine associatio...
Expanding African contributions to ClinVar through genetic counselor-led variant curation [0.03%]
通过遗传顾问领导的变异解读扩大非洲在ClinVar中的贡献
Nabeelah Peerbhai,Nolene Ramsunder,Tarin Europa et al.
Nabeelah Peerbhai et al.
Global variant databases such as ClinVar are vital in linking genetic variation to clinical significance and enabling shared interpretation across laboratories. However, African genetic variants remain underrepresented, comprising under 2% ...
Understanding imposter phenomenon in genetic counselors: Impact and strategies for mitigation [0.03%]
遗传咨询师中的冒牌者现象：影响及缓解策略
Susan Creighton,Alison M Elliott,Melanie P Napier et al.
Susan Creighton et al.
Imposter phenomenon is common in healthcare professionals and other high-achieving fields. It is exhibited as persistent self-doubt in one's abilities, fear of being labeled as a fraud despite evidence of achievements, and the belief that o...
Helen Anderson,B Ethan Coston,Tahnee Causey et al.
Helen Anderson et al.
Language is essential to genetic counseling. Genetic counselors use language to accurately communicate complex medical phenomena and support patients' understanding and wellbeing. This qualitative descriptive study explored how practicing g...
Barriers and facilitators to genetic counseling service availability in the Arab world: A genetic counselors' perspective [0.03%]
阿拉伯世界遗传咨询服务平台的障碍与促进因素——来自遗传咨询师的观点
Batoul Elbassiouny,Rawan Awwad,Carla I Campbell et al.
Batoul Elbassiouny et al.
Despite the global growth of the genetic counseling field, many Arab countries either lack genetic services or have limited resources restricted to specific specialties. This qualitative study is among the first to explore genetic counselor...
Exploring stigma in Huntington's disease: A scoping review of methods and conceptualizations for understanding experiences of gene expansion carriers and at-risk individuals [0.03%]
亨廷顿舞蹈病的污名化研究：基因重复扩大携带者和高风险个体体验的理解方法及概念化的范畴审查
Tierney Tindall,Jane Simpson,Maria Dale et al.
Tierney Tindall et al.
Many individuals affected by the hereditary neurological condition Huntington's disease (HD) have reported experiences of stigmatization, yet the extant literature is currently theoretically and methodologically underdeveloped. Therefore, t...
40+ years of the Huntington disease predictive genetic testing protocol: Recommendations for an update [0.03%]
亨廷顿舞蹈病预测性遗传检测方案：对更新的建议
Jill S Goldman,Jamie C Fong,Weiyi Mu et al.
Jill S Goldman et al.
Guidance for predictive genetic testing for Huntington disease (HD) has been available for more than four decades and has been applied to other adult-onset hereditary conditions, especially neurogenetic conditions. Yet this protocol has not...
Cognitive and emotional experiences of parents of children with Tyrosine Hydroxylase Deficiency during the diagnostic journey in Serbia: A preliminary study [0.03%]
塞尔维亚低苯丙氨酸血症患儿父母诊断历程中的认知和情感体验：一项初步研究
Tatjana Krstić,Vesela Milankov,Špela Golubović
Tatjana Krstić
Rare diseases are often complex and difficult to diagnose, resulting in significant delays in obtaining a definitive diagnosis. These delays can place emotional and psychological strain on parents, who must navigate an uncertain medical jou...
Changing care for patients at risk for Huntington's disease in the United States due to the 21st Century Cures Act [0.03%]
美国《二十一世纪治愈法案》对亨廷顿舞蹈病高风险患者护理的影响
Abigayle E Rose,Victoria Klee,Maysen Mesaros et al.
Abigayle E Rose et al.
The Huntington's Disease Society of America (HDSA) protocol requires in-person result disclosure for predictive testing due to the increased suicidality risk in the Huntington's disease (HD) population. The 21st Century Cures Act (Cures), a...