Tracking clinical genetic services for newborns identified through newborn dried bloodspot screening in the United States-lessons learned [0.03%]
美国关于新生儿遗传学服务的追踪研究——从中获得的经验教训
Judith Livingston,Bradford L Therrell Jr,Marie Y Mann et al.
Judith Livingston et al.
To determine how US newborn dried bloodspot screening (NDBS) programs obtain patient-level data on clinical genetic counseling services offered to families of newborns identified through newborn NDBS and the extent to which newborns and the...
Falling prevalence of beta-thalassaemia and eradication of malaria in the Maldives [0.03%]
马尔代夫β-地中海贫血患病率下降和消除疟疾
Naila Firdous,Stephen Gibbons,Bernadette Modell
Naila Firdous
Carriers of haemoglobin disorders have protection against falciparum malaria. Therefore, where this is common, carrier prevalence rises until this selective advantage is offset by deaths of affected children. Theory predicts a corresponding...
Reasons for participating and genetic information needs among racially and ethnically diverse biobank participants: a focus group study [0.03%]
不同种族和族裔的生物样本库参与者参与原因及遗传信息需求的焦点小组研究
Samantha A Streicher,Saskia C Sanderson,Ethylin Wang Jabs et al.
Samantha A Streicher et al.
In order for DNA biobanks to be a valuable reservoir of genetic information, large numbers of participants from all racial and ethnic backgrounds need to be recruited. This study explored reasons for participating in a new biobank among pri...
Screening for the sickle cell gene in Chhattisgarh state, India: an approach to a major public health problem [0.03%]
印度恰蒂斯加尔邦镰状细胞基因的筛查：对一个主要公共健康问题的方法
Pradeep K Patra,Virander S Chauhan,Prafulla K Khodiar et al.
Pradeep K Patra et al.
The aim of this study is to determine the feasibility of large-scale population screening for the sickle cell gene in high risk areas with limited resources. A programme designed to detect the sickle cell trait and sickle cell disease has s...
Users' motivations to purchase direct-to-consumer genome-wide testing: an exploratory study of personal stories [0.03%]
消费者购买直接面向消费者的全基因组检测服务的动机——个人故事调查分析
Yeyang Su,Heidi C Howard,Pascal Borry
Yeyang Su
The relatively rapid growth of the direct-to-consumer (DTC) genetic testing market in the last few years has led to increasing attention from both the scientific community and policy makers. One voice often missing in these debates, however...
Newborn screening education on the internet: a content analysis of North American newborn screening program websites [0.03%]
北美新生儿筛查项目网站上的新生儿筛查教育：内容分析研究
Makda H Araia,Beth K Potter
Makda H Araia
The Internet is a potentially important medium for communication about public health programs including newborn screening. This study explores whether the information available on official newborn screening program websites is consistent wi...
Access to genetic testing and genetic counseling in vulnerable populations: the d/Deaf and hard of hearing population [0.03%]
弱势人群中的遗传咨询和检测：聋人与重听人群
Sandra Cooke-Hubley,Victor Maddalena
Sandra Cooke-Hubley
Genetic testing holds great potential for preventing morbidities and mortalities for a number of diseases through early detection and effective intervention. As the number of genetic tests expand, so will public demand for these services. T...
Some considerations about a report on 'Public health in an era of genomic-based and personalized medicine' from the Public Health Foundation, Cambridge [0.03%]
英国公共卫生基金会关于“基于基因组和个体医学时代的公共健康”的报告的若干思考
Jean-Jacques Cassiman
Jean-Jacques Cassiman
Martin Reinecke,Kathrin Rommel,Jörg Schmidtke
Martin Reinecke
Collectively, rare diseases are of major public health impact, but research on rare diseases poses major challenges. There are many deterrents for researchers to initiate rare disease projects and for funding agencies to grant support. It c...
Oussama M&#x;hamdi,Ines Ouertani,Faouzi Maazoul et al.
Oussama M&#x;hamdi et al.
Bardet-Biedl syndrome (BBS, OMIM 209900) is a ciliopathy causing multivisceral abnormalities. This disease is mainly characterized by obesity, post-axial polydactyly, hypogenitalism, intellectual disabilities, pigmentary retinopathy, and re...