Towards responsible genome-wide screening: normative and stakeholder considerations [0.03%]
迈向负责任的全基因组筛选：规范和利益相关者考量
Corrette Ploem,Guido de Wert,Sara Soriano Longarón et al.
Corrette Ploem et al.
Genome-wide screening can be offered at various stages of life and serve multiple purposes, including early detection of treatable conditions, achieving health benefits, or enhancing reproductive choices. Although genome-wide screening offe...
Transforming our future by unlocking the power of DNA: the representation of health-related genomic testing in UK news items [0.03%]
解锁DNA的力量以改变未来——英国新闻界对健康相关基因检测的报道形象分析
Rachel Horton,Kendra Gordillo,Anneke Lucassen et al.
Rachel Horton et al.
Many people will have had no formal education on health-related genomic testing, so information from media sources may constitute a major influence in shaping ideas and expectations around genomic tests. We undertook a framing analysis of 1...
"There's no representation": a qualitative study of attitudes and motivations towards genomic research participation among Australian South Asians [0.03%]
“没有代表性”的定性研究：澳大利亚南亚人参与基因组学研究的态度和动机研究
Vaishnavi Nathan,Heena Akbar,Aideen McInerney-Leo et al.
Vaishnavi Nathan et al.
People of South Asian ancestry represent approximately 25% of the world's population, yet constitute less than 2% of global genomic databases, limiting our ability to provide equitable genomic healthcare for this population. The urgent need...
Missing … presumed well? Legal and ethical aspects of 'missed cases' in genomic newborn screening [0.03%]
遗漏……推测为好事吗？基因组新生儿筛查中“遗漏病例”的法律和伦理方面
Ainsley J Newson,Robin Banks,Gabriel Watts et al.
Ainsley J Newson et al.
Newborn bloodspot screening (NBS) programs aim to identify babies at risk of developing serious conditions where an effective preventive or ameliorative intervention is available in infancy or early childhood. In recent decades, new testing...
Systematic mapping of rare genetic disease studies using UK primary care electronic health records [0.03%]
基于英国全科医疗电子健康记录的罕见遗传病研究系统性地图绘制
Thomas E B Wright,Hannah Slevin,Sinéad Magnier et al.
Thomas E B Wright et al.
Rare disease studies often rely on small, selected cohorts, are resource-intensive and difficult to scale. UK primary care electronic health record (EHR) databases provide population-based, longitudinal data, but their use for rare genetic ...
Patients offered genomic testing for rare disease and cancer: a real-world evaluation of impact and processes of care [0.03%]
罕见病和癌症患者接受基因组检测的影响及诊疗过程的现实世界评估
Melissa Martyn,Ling Lee,Emily Forbes et al.
Melissa Martyn et al.
Robust evidence is required to support decision-making about incorporating genomics into healthcare; patient perspectives are crucial. Prior studies centre on people giving research consent for testing, yet significant differences between r...
Uncovering apparent incomplete penetrance of TSC1/TSC2 variants: Insights from multiple population cohorts and implications for newborn screening [0.03%]
TSC1/TSC2变异体呈现表型不完全外显性的研究现状：多人群队列的见解及新生儿筛查的启示
J Fasham,A McPhater,R Whittington et al.
J Fasham et al.
Tuberous sclerosis complex (TSC) is a genetic multisystem disorder regarded as having near-complete penetrance, a view largely derived from clinically ascertained cohorts. As genomic newborn screening is piloted internationally, robust esti...
From clinical genetics to genomic-based public health screening programmes: duty-based ethics as a guide for responsible implementation [0.03%]
从临床遗传学至基于基因组的公共健康筛查项目：责任伦理在指导负责任实施方面的应用
Helena Carley,Ingrid Slade
Helena Carley
A renewed focus on disease prevention has placed genomics firmly in the spotlight. Policymakers and health services across Europe are considering ways to facilitate disease prevention and early disease detection through population-level ini...
Paola Ghiorzo
Paola Ghiorzo
Rare disease genomics in an era of human pangenomics and telomere-to-telomere genome references [0.03%]
人类泛基因组时代罕见病基因组学及端到端基因组参考序列的研究
Chiara Folland,Gavin Monahan,James Breen et al.
Chiara Folland et al.
Despite considerable efforts investigating the genetic aetiology of rare diseases in the past decades, approximately 50% of cases remain without a genetic diagnosis. Many missing diagnoses can be attributed to the limitations of short-read ...