Parents' perspectives of non-informative germline genetic testing in children with Juvenile Polyposis Syndrome [0.03%]
小儿遗传性多发性息肉病的基因检测父母视角研究
Kayla Rud,Kelcy Smith-Simmer,Jennifer Weiss et al.
Kayla Rud et al.
Juvenile Polyposis Syndrome (JPS) is a hereditary gastrointestinal polyposis condition characterized by the development of multiple juvenile-type hamartomatous polyps. Approximately half of individuals meeting clinical diagnostic criteria f...
An introduction to Delphi studies and consensus methods for genetic counselors [0.03%]
遗传咨询师的德尔菲研究和共识方法入门简介
Ian M MacFarlane,Heather Zierhut
Ian M MacFarlane
Delphi studies, a type of consensus method, are instrumental in healthcare research for gathering expert perspectives, especially when conclusive evidence is not available. Developed in the 1950s, Delphi methodology is characterized by anon...
Voices in practice: Exploring genetic counseling ethical, cultural, social, and religious dynamics in the UAE [0.03%]
实践中的声音：探索阿联酋遗传咨询的伦理、文化、社会和宗教动态
Hind J Almarri,Sameera Koodakkadavath,Azhar T Rahma et al.
Hind J Almarri et al.
Genetic counseling is expanding globally, yet remains underexplored in Middle Eastern contexts. In the United Arab Emirates (UAE), rapid biomedical advancements intersect with traditional sociocultural and religious norms, presenting unique...
Outcome data for non-invasive prenatal testing suggestive of an atypical sex chromosome abnormality of fetal/placental origin [0.03%]
非侵入性产前检查提示胎儿/胎盘异常性染色体异常的结局数据
Matthew Rich,Salman Ali Jan,Courtney Fraser et al.
Matthew Rich et al.
This study was designed to identify outcome data for non-invasive prenatal testing (NIPT) results suggestive of an atypical sex chromosome abnormality of fetal/placental origin. A single-center descriptive case series was performed between ...
Provider perceptions and insights on polygenic risk scores for colorectal cancer: A qualitative study [0.03%]
结直肠癌多基因风险评分的供应商感知和见解：定性研究
Shenazar Esmundo,Nenette Caceres,Charité Ricker et al.
Shenazar Esmundo et al.
Polygenic risk scores (PRS), a measure that sums multiple common genetic susceptibility variants into a single burden measure, can help identify individuals at higher risk for colorectal cancer (CRC). Consequently, there is growing interest...
Perspectives of Italian lay persons who would decline genetic risk information: "I think I'd be living in constant worry" [0.03%]
意大利非宗教人士拒绝接受遗传风险信息的观点："我会一直生活在担忧中"
Lea Godino,Linda Battistuzzi,Liliana Varesco et al.
Lea Godino et al.
This study explores lay public perspectives on intrafamilial genetic risk communication, focusing on individuals who hypothetically choose not to receive genetic information, a largely overlooked population in genetic counseling research. A...
Healthcare professionals' perspectives on supporting individuals with NF1 during pregnancy and decision-making processes [0.03%]
神经纤维瘤病1型患者孕期支持及决策过程的相关医务人员的观点
Gamze Kaplan,Debbie M Smith,Ming Wai Wan et al.
Gamze Kaplan et al.
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic condition characterized by highly variable presentation, making reproductive decision-making and pregnancy care particularly complex. While previous research has focused largel...
Population-based hereditary cancer screening in a general endoscopy clinic: Evaluating interest in, uptake, and outcomes of genetic services [0.03%]
基于人群的遗传性癌症筛查在普通内镜诊所的兴趣、利用率和结果评估遗传服务
Leanne Baird,Aika Miikeda,Hitashi Bansal et al.
Leanne Baird et al.
Hereditary cancer syndromes are underdiagnosed due to limitations in guideline-based referral systems that rely on personal/family history and provider recognition. We evaluated the interest in, uptake of, and outcomes of genetic services b...
Cascade testing in an ovarian cancer traceback genetic testing program: The GRACE study experience [0.03%]
卵巢癌溯祖基因筛查项目中的cascade检测：GRACE研究经验
Jamilyn M Zepp,Heather S Feigelson,Yolanda K Prado et al.
Jamilyn M Zepp et al.
Approximately 20% of individuals diagnosed with ovarian cancer (OC) have an inherited pathogenic or likely pathogenic variant (P/LP) in a cancer risk gene. Though genetic testing for hereditary cancer risk is currently recommended at OC dia...
Prenatal genetic counselors' attitudes, beliefs, and practices with discussing postnatal Duchenne muscular dystrophy treatment options [0.03%]
产前遗传咨询师讨论杜氏肌营养不良症产后治疗选择的态度、信念和实践
Shawna L Jurlina,Nicholas Gorman,Christina G S Palmer et al.
Shawna L Jurlina et al.
Duchenne muscular dystrophy (DMD) is an X-linked genetic condition characterized by progressive muscle degeneration. Recently, several genotype-specific treatment options for DMD have become available. Prenatal genetic counselors may encoun...