Health economic evaluations of genomic newborn screening: Approaches by studies within the international consortium on newborn sequencing [0.03%]
基因组新生儿筛查的卫生经济学评估：国际新生儿测序联盟研究的方法学分析
Hadley Stevens Smith,Martin Vu,Tamara Dangouloff et al.
Hadley Stevens Smith et al.
Affordability and value-for-money are key factors that will inform decisions about implementation of genomic newborn screening (gNBS) as a population-based program. Given the methodological and data-related challenges to evaluating health a...
Constitutional methylation of the MLH1 promoter: a case series including tumors not typically caused by Lynch Syndrome [0.03%]
MLH1启动子的表观遗传学异常甲基化：利斯综合症非典型肿瘤患者的病例分析
Lise Graversen,Jannie Assenholt,Inge Søkilde Pedersen et al.
Lise Graversen et al.
Constitutional methylation of the MLH1 promoter is a rare cause of Lynch Syndrome likely to be overlooked in daily clinical practice, as MLH1 methylation is common in sporadic tumors. We present four unrelated Danish and Australian patients...
Genetic yield of targeted diagnostic screening in a large European cohort of 368 thoracic aortic dissection patients [0.03%]
欧洲368例胸部主动脉夹层患者中目标诊断筛查的基因_yield分析
Joe Davis Velchev,Alice Krebsová,Pavel Votýpka et al.
Joe Davis Velchev et al.
Thoracic aortic dissection (TAD) is a life-threatening condition with a significant genetic contribution. This study evaluated the clinical implications of diagnostic screening of 368 TAD patients for (likely) pathogenic (LPP) variants in 2...
Inherited cancer predisposition and reproductive choice: enlightening research insights [0.03%]
遗传性癌症易感性和生殖选择：研究新见
Rosie O&#x; Shea
Rosie O&#x; Shea
The cost and cost-effectiveness of whole-exome and whole-genome sequencing: a systematic literature review [0.03%]
全外显子组和全基因组测序的成本及性价比的系统文献回顾
Frederick McElwee,Sally L Sansom,James Buchanan et al.
Frederick McElwee et al.
Existing systematic reviews of the health economic evidence for whole-exome and whole-genome sequencing (WES/WGS) are outdated or restricted to specific diseases or populations. This systematic review aims to provide an update on the health...
Exploring the impact on intrafamilial support systems when newborn screening programmes contact parents with an initial screen positive result [0.03%]
新生儿筛查项目与父母初步筛查结果呈阳性时的沟通对家庭内部支持系统的影响探究
Chloe Musa,Fiona Ulph
Chloe Musa
Newborn bloodspot screening identifies babies with serious health conditions in a 2-stage process. Positive screening identifies those who need diagnostic tests. Although screening can improve physical health outcomes, research suggests tha...
Simona Coppola,Marco Tartaglia
Simona Coppola
Multilocus inherited neoplasia alleles syndrome: a retrospective review from a Canadian single institution [0.03%]
多基因遗传性肿瘤综合征：来自加拿大一家机构的回顾性分析
Kathleen Orrell,Malek Horani,Maria Carolina Sanabria-Salas et al.
Kathleen Orrell et al.
Genetic testing in hereditary cancer is evolving from single-gene-focused approaches in affected individuals to multi-gene panel testing for affected individuals and unaffected relatives. The widespread use of multi-gene panel testing has l...
From evidence to implementation: key priorities for pharmacogenomics-guided treatment and prevention from a European expert workshop [0.03%]
从证据到实施：欧洲专家研讨会确定的药物基因导向治疗和预防的关键优先事项
Loes Lindiwe Kreeftenberg,Lidewij Henneman,Tessel Rigter et al.
Loes Lindiwe Kreeftenberg et al.
Pharmacogenomics holds promise for enhancing drug safety and efficacy, paving the way for more precise, patient-centered therapeutic approaches and supporting personalized medicine and prevention. However, its routine integration into healt...
When screening and diagnosis converge: participant interpretations of additional findings in the 100,000 genomes project [0.03%]
解读基因组计划中额外发现的临床意义：以患者视角为例
Susie Weller,Anneke Lucassen
Susie Weller
Genomic science is a central feature of the UK government's current 10-year health plan for England, which places significant emphasis on prediction and prevention. Although NHS prevention strategies have long been aimed at catching disease...