Invisible diversities, academic capital, and competitiveness of genetic counseling applicants [0.03%]
隐形的差异、学术资本和遗传咨询申请人的竞争力
Natalie Stoner,Meagan Choates,Carla McGruder et al.
Natalie Stoner et al.
The field of genetic counseling has historically lacked diversity. Recent research has explored how individuals with visible underrepresented identities may encounter barriers to becoming competitive genetic counseling applicants. This work...
Kaycee Carbone,Ann Seman,Catherine Clinton et al.
Kaycee Carbone et al.
The Ehlers-Danlos syndromes (EDS) are a group of hereditary connective tissue disorders for which patients struggle to find a timely and accurate diagnosis. Overburdened genetics practices have been identified as a barrier to care. Triage i...
The attitudes of individuals with or at risk of adult-onset genetic conditions on reproductive genetic testing: A systematic review [0.03%]
成人发病的遗传性疾病患者的个体及其风险群体对生殖遗传检测的态度：系统性综述
Shanice Allen,Alisdair McNeill,Christopher McDermott et al.
Shanice Allen et al.
Individuals who carry a genetic variant for a genetic disease can access reproductive genetic testing in order to prevent the transmission of the gene variant to their children. This systematic review aimed to synthesize the findings from b...
Genetic counseling training program perspectives on delivering disability-related education [0.03%]
遗传咨询培训计划中关于提供残疾相关教育的观点
Anna Miller,Ashley Kuhl,Rachel Sullivan et al.
Anna Miller et al.
Ensuring genetic counselors are educated about disability is crucial due to the societal implications of genetic testing and the support they provide to clients. Research indicates that genetic counselor preparedness in these areas is both ...
Changes in multi-gene cancer panels for children: A 4-year retrospective review [0.03%]
儿童多基因癌症检测板的变化：一项四年的回顾性研究
Elise G Williams,Elena Kessler,Kristine L Cooper et al.
Elise G Williams et al.
The multi-gene panel is the most utilized genetic test to evaluate for germline cancer predisposition syndromes. However, the rate of change of commercial multigene panels is not well understood, and its value as a standalone test has also ...
Preimplantation genetic testing for polygenic disorders: Viewpoints of reproductive genetic counselors and reproductive endocrinology and infertility specialists in the United States [0.03%]
美国生殖遗传咨询师和生殖内分泌与不孕不育专家关于多基因疾病植入前基因检测观点的研究
Saanchi Shah,Rita M Cantor,Molly Quinn et al.
Saanchi Shah et al.
The purpose of this study was to assess awareness of preimplantation genetic testing (PGT) for polygenic disorders (PGT-P) and viewpoints surrounding PGT among reproductive genetic counselors (GCs) and reproductive endocrinology infertility...
Evaluating first-line genetic testing strategies for inpatients with congenital heart defects [0.03%]
住院先天性心脏病患者一线基因检测策略评估
Al Lindstrom,Amy Breman,Sara Fitzgerald-Butt et al.
Al Lindstrom et al.
Genetic testing strategies used to determine the etiology of congenital heart disease/defects (CHD/CHDs) vary between and within institutions, leading to potentially missed diagnostic opportunities. There has been little investigation compa...
Finding acceptance: How adolescents and young adults with Klinefelter Syndrome navigate identity, disclosure, and support [0.03%]
寻找认同感：克氏综合症青少年和年轻成人如何应对身份认知、信息披露和支持的问题
Abigail Tubman,Jaclyn L Papadakis,Courtney Finlayson et al.
Abigail Tubman et al.
Klinefelter syndrome (KS; 47, XXY) is the most common chromosomal aneuploidy, affecting ~1:600 male births. Due to recent technological advances, KS is diagnosed more often in young individuals. This emerging population of adolescent and yo...
A preliminary adaptation and validation of the genetic counseling outcome scale (GCOS-24) for use in Greece [0.03%]
遗传咨询结果量表（GCOS-24）在希腊使用的初步改编和验证研究
Marina Makri,Anthoula Palasidou,Despoina Moraitou et al.
Marina Makri et al.
The demand for genetic testing and counseling services continues to grow as there is a utility to guide diagnosis and treatment for a range of genetic conditions. Genetic counseling (GC) is a medical practice that provides information and c...
Genetic testing for Parkinson's disease in an underrepresented population: Knowledge, attitudes, and ethical considerations from a Malaysian perspective [0.03%]
马来西亚人口中帕金森病基因检测的知识、态度和伦理考量
Joanna P Gerard,Ai Huey Tan,Shen-Yang Lim et al.
Joanna P Gerard et al.
Parkinson's disease (PD), an increasingly prevalent neurodegenerative disease worldwide, has been the focus of extensive genetics research in recent years. Genetic testing has emerged as a promising tool for early diagnosis, prognostication...