Hope tempered by caution: Public beliefs in the United States about the benefits and drawbacks of using epigenetic technologies in clinical care [0.03%]
谨慎乐观：美国公众对表观遗传技术临床应用利弊的信念研究
Erika Waters,Caitlin Yuen,Clarissa Gaona Romero et al.
Erika Waters et al.
Purpose: Clinical applications of epigenetic technologies could revolutionize precision medicine. However, successful uptake in clinical settings may be influenced by public opinion. We investigated public beliefs about p...
Self-Reported Genetic Discrimination: Experiences from a Large National Sample of Working Adults [0.03%]
来自大型全国样本的在职成年人的自我报告遗传歧视经历
Drew Blasco,Sarah McCain,Subhamoy Pal et al.
Drew Blasco et al.
Introduction: As access to genetic testing outside clinical settings [e.g., direct-to-consumer, workplace genetic testing (wGT)] increases, genetic discrimination (GD) concerns persist. ...
Opportunities and Challenges in Translating Genomics into Population Health Impact: Lessons from Familial Hypercholesterolemia [0.03%]
从家族性高胆固醇血症谈起：基因组学应用于人口健康的影响与挑战
Jeffery Osei,Sai Sripad Kodukula,Baffour Otchere et al.
Jeffery Osei et al.
Familial hypercholesterolemia (FH) is a common, autosomal dominant genetic disorder characterized by lifelong elevations in low-density lipoprotein cholesterol and a markedly increased risk of premature atherosclerotic cardiovascular diseas...
What is at stake in genetic newborn screening for rare diseases? - An exploratory qualitative study of parents' and expectant parents' concerns in the Screen4Care project [0.03%]
罕见病的基因新生儿筛查利弊何在？——Screen4Care项目中父母和准父母的关注点探索性研究
Sylvia Martin,Åsa Grauman,Joshua Coulter et al.
Sylvia Martin et al.
Background: The diagnostic journey for rare diseases (RDs) often involves lengthy delays and significant burdens on patients and their family. Genetic newborn screening (NBS) for RDs offers a potential opportunity for ear...
"I know that one day I will be cured": Perspectives on acceptability of curative therapies for sickle cell disease in Tanzania [0.03%]
“总有一天我会痊愈”——坦桑尼亚镰状细胞病患者对根治性治疗的态度与可及性调查
Daima Bukini,Kassim Kassim,Collins Kanza et al.
Daima Bukini et al.
While curative treatments for sickle cell disease (SCD), including hematopoietic stem cell transplant and gene therapies are largely restricted to high-resource settings, recent advancements have raised hopes that they will eventually becom...
Optimizing reporting and outreach for surveillance and risk-reducing surgeries for cancer genetic predisposition: Findings of a workshop organized by the International Cascade Consortium [0.03%]
国际级联联盟举办的关于癌症遗传易感性监测和降低风险手术的报告和推广优化研讨会成果
Bardha Citaku-Qerimi,Hanna Yttring,Sofia E Andersson et al.
Bardha Citaku-Qerimi et al.
Introduction: Improving access to genetic testing has increased the number of individuals identified with cancer genetic predisposition. Hereditary Breast and Ovarian Cancer (HBOC) and Lynch syndrome (LS) are key examples...
Key outcomes from a stakeholder workshop on genomic newborn screening: recommended next steps for the integration of genomics into public health programs [0.03%]
新生儿基因组筛查利益相关者研讨会的关键成果：将基因组学整合到公共卫生计划中的推荐下一步措施
Saskia G Smits,Annelotte J Duintjer,Hermine A van Duyvenvoorde et al.
Saskia G Smits et al.
Introduction: Technical advances and decreasing costs of next-generation sequencing have generated global interest in its potential for newborn screening (NBS). Genomic NBS (gNBS) enables the expansion of detectable condi...
The IMPACT-FH Renewal Protocol: Evaluating FH Cascade Testing Implementation in Primary Care through a Pragmatic Trial, Economic Evaluation, and Mixed-Methods Sustainability Assessment [0.03%]
IMPACT-FH延续协议：通过实用试验、经济评估和混合方法可持续性评估来评估在初级保健中实施FH级联检测的效果
Kelly M Morgan,Nicole L Walters,Jazmine Gabriel et al.
Kelly M Morgan et al.
Introduction: Familial hypercholesterolemia (FH) is a common autosomal dominant genetic disorder conferring a high risk of premature atherosclerotic cardiovascular disease (ASCVD), without early diagnosis and treatment. U...
Hereditary Hemochromatosis and Hypertrophic Cardiomyopathy as Tier 1 Genomic Conditions: Implications for Adult Population Genomic Screening [0.03%]
遗传性血色素沉着症和肥厚型心肌病作为一级基因组疾病：对成人人口基因组筛查的启示
Scott D Grosse,Muin J Khoury,W David Dotson
Scott D Grosse
Family Leaders Navigate Burden to Communicate Risk During Cascade Screening after Sudden Cardiac Death in the Young [0.03%]
家族领导人在年轻人群突发心脏骤停后进行级联筛查时的风险沟通负担导航
Lisa Dellefave-Castillo,Franceska Bhansali,Lisa Shah et al.
Lisa Dellefave-Castillo et al.
Introduction: Relatives of a victim of sudden cardiac death in the young (SCDY) may be at-risk for hereditary cardiomyopathies and arrhythmias; effective communication of cardiac risk is imperative. Family leaders are oft...