"I don't grieve as much as I used to": A qualitative study on parents of children with rare and undiagnosed conditions navigating grief in the context of uncertainty [0.03%]
“我不像过去那样悲伤了”——罕见病和病因未明疾病患儿父母在不确定背景下的哀伤经历的质性研究
Tara Maria Hoffmann,Bettina Friedrich,Celine Lewis
Tara Maria Hoffmann
The aim of this qualitative interview study was to explore the lived experiences of parents, experiencing high anxiety and poorer quality-of-life/family functioning, caring for a child with a rare and undiagnosed condition. Data analysis le...
Psychosocial burdens and unmet supportive care needs of partners and relatives of individuals with Li-Fraumeni syndrome: A mixed-methods study [0.03%]
利-弗劳梅尼综合征个体的伴侣和亲属的心理社会负担及支持性护理需求缺失：一种混合方法研究
Senta Kiermeier,Sarah Schott,Juliane Nees et al.
Senta Kiermeier et al.
Li-Fraumeni syndrome (LFS) is a rare but highly penetrant cancer predisposition syndrome caused by pathogenic variants in the tumor suppressor gene TP53. Individuals diagnosed with LFS should adhere to intense surveillance programs for earl...
From the ground up: Launching GENETECA™ (GENetic education and TEsting for CAncer) a point-of-care cancer genetics service at an academic medical center [0.03%]
从头做起：在学术医学中心推出GENETECA（针对癌症的遗传教育和检测）门诊肿瘤遗传学服务
Daniella Kamara,Mariana Niell Swiller,Sarah Bedford et al.
Daniella Kamara et al.
In 2020, the UCLA Cancer Genetics service launched a point-of-care pilot program called GENETECA™ (GENetic Education and TEsting for CAncer) in the Pancreatic Cancer Integrated Practice Unit (PancIPU) to comply with national guidelines rec...
Cynthia A James,Jessica R Overbey,Louise Bier et al.
Cynthia A James et al.
Genetic counseling often raises important questions: Does a new service delivery model improve patient outcomes? Will delivering results in a certain way reduce anxiety? Does a genetic counseling intervention in certain populations change h...
Acceptability, consideration, intention, and uptake of six common types of direct-to-consumer genetic tests in the Netherlands [0.03%]
荷兰消费者六大类直接面向消费者的基因检测的可接受性、考虑因素、意图和采用情况
Anna Roos Leerschool,Anke Wesselius,Gowri Gopalakrishna et al.
Anna Roos Leerschool et al.
While direct-to-consumer genetic testing (DTC-GT) has gained significant popularity, concerns persist that the public may lack adequate information and support to make well-informed decisions and understand test results. Several types of DT...
Perceived utility of genetic carrier screening in a diverse patient population [0.03%]
遗传性携带者筛查在多样化的患者人群中的感知效用
Jack A Colleran,Meagan Choates,Syed Hashmi et al.
Jack A Colleran et al.
Current reproductive guidelines call for offering expanded carrier screening (ECS) for genetic conditions. Currently available panels can include screening for carrier status of tens to hundreds of autosomal recessive and/or X-linked condit...
Cardiovascular genetic counselor decision making about discussing life insurance with patients [0.03%]
心血管遗传咨询师与患者讨论人寿保险的决策流程
Sara Cherny,Sarah Jurgensmeyer Langas,Miguel Moran et al.
Sara Cherny et al.
Genetic counselors (GCs) educate patients about the benefits, risks, and limitations of genetic testing. The regulatory environment governing the use of genetic data in life insurance is not uniform internationally or within the United Stat...
Achieving cultural safety in genetic counseling for Aboriginal and Torres Strait Islander people in Australia [0.03%]
在澳大利亚为土著居民和托雷斯海峡岛民的遗传咨询中实现文化安全
Bethany Wadling,Clara Gaff,Johanna Barclay et al.
Bethany Wadling et al.
Globally, Indigenous people, including Aboriginal and Torres Strait Islander people in Australia, experience significantly poorer health outcomes than their non-Indigenous counterparts. In part, this can be attributed to the ongoing impacts...
Experiences of parents who receive a false-positive CK-MM screening for their newborn [0.03%]
新生儿接受假阳性CK-MM筛查的父母的经历
Janice P Tzeng,Allyson M Corbo,Heidi L Cope et al.
Janice P Tzeng et al.
Duchenne muscular dystrophy (DMD) is a rare inherited, X-linked neuromuscular disorder that leads to a progressive decline in physical mobility, muscle atrophy, and premature death. Newborn screening (NBS) offers the potential for earlier d...
Whole-exome sequencing for genetic screening in high-risk populations: Insights from consanguineous Palestinian families [0.03%]
外显子组测序在高风险人群遗传筛查中的应用——近亲婚配的巴勒斯坦家庭的经验启示
Tamer Hodrob,Alaaeddin Abusalameh,Ibrahim Ismail et al.
Tamer Hodrob et al.
Preconception care (PCC), particularly genetic testing, is essential for improving reproductive health outcomes in high-risk families, including those with consanguineous marriages. Whole-exome sequencing (WES) has shown promise in identify...