Genetic services

遗传服务
  • 文章类型: Journal Article
    远程遗传学,远程医疗在遗传服务中的应用,是一个不断增长的市场。该领域的最新发展之一是使用直接面向消费者(DTC)营销来向消费者推广和宣传遗传和基因组顾问服务。使用Google.com,我们确定了在线推广其远程遗传学服务的提供商。通过分析他们的网站,我们确定和检查有关DTC远程遗传学的关键点:如何描绘远程遗传学服务,如何获得知情同意,以及为客户提供的“个人健康信息”保护是什么?我们发现,在提供商的网站上对各种远程遗传学服务的描述非常积极。很少提及与实施远程遗传学相关的风险。通常没有同意书,也没有涵盖所有相关信息。发现远程遗传学提供者保护客户个人健康信息的措施通常不足且薄弱。我们得出的结论是,DTC远程遗传学可以以可承受的成本增加患者获得遗传咨询的机会。然而,在进一步发展DTC远程遗传学之前,需要更多的研究和监管改进来保证真实的广告,确保知情同意,安全的个人健康数据共享,并保证充分的隐私保护。
    Telegenetics, the application of telemedicine in the context of genetic services, is a growing market. One of the recent developments in this field is the use of direct-to-consumer (DTC) marketing to promote and advertise genetic and genomic consultant services to consumers. Using Google.com, we identified providers that promote their telegenetics services online. By analyzing their websites, we identify and examine key points regarding DTC telegenetics: how are telegenetics services portrayed, how is informed consent obtained, and what protections are offered to clients\' personal health information? We found that the portrayal of a wide range of telegenetics services on providers\' websites is extremely positive. The risks associated with the implementation of telegenetics were rarely mentioned. Consent forms were often unavailable and did not cover all of the relevant information. The measures for protecting clients\' personal health information by telegenetics providers were found to be generally inadequate and weak. We concluded that DTC telegenetics may increase patients\' access to genetic counseling with affordable costs. However, before further developing DTC telegenetics, more research and regulatory improvements are required to guarantee truthful advertising, ensure informed consent, secure personal health data sharing, and warrant adequate privacy protection.
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  • 文章类型: Journal Article
    Over the past 40 years, much effort has been spent on developing non-invasive prenatal diagnostic methods. Since 1997, the progress of this field has been accelerated by the unexpected finding of extracellular fetal nucleic acids in maternal plasma. These developments have been translated into many novel genetic, epigenetic and gene-expression markers, and are expected to have a fundamental impact on the future practice of prenatal diagnosis.
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    文章类型: Journal Article
    OBJECTIVE: To facilitate the application of the large scale genome scan and individual identification by investigating the differences of microsatellite polymorphisms of the genethon human genetic linkage map between the Han nationality and French population.
    METHODS: Six to seventeen pairs of primers were added in one single tube with 5 microliters reaction volume and several microsatellite markers were amplified simultaneously. The products were electrophoresited on the 377XL DNA sequencer.
    RESULTS: During the entire experiment 400 microsatellite loci were amplified in 32 tubes and 306 microsatellite loci were satisfactory.
    CONCLUSIONS: The size range of genetic polymorphisms are different in race, and the difference exists at 124 microsatellite loci between the Han nationality and French population, so 10 bp should be added to both sides of the genethor map size range when we perform genotype in Han nationality.
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  • 文章类型: Journal Article
    对道德的态度,对来自中国30个省、自治区的402家遗传服务提供者进行了遗传研究和实践中的法律和社会问题调查。这是使用已在37个国家/地区发行的有关道德和遗传学的国际调查问卷的中文版本完成的。总之,255名研究参与者完成了问卷调查(63%)。大多数受访者(89%)表示,他们同意中国现行的有关遗传异常和非医学指征终止妊娠的法律法规,在考虑人口控制和计划生育的基础上。超过一半的受访者反对在没有X连锁疾病的情况下通过产前诊断进行性别选择。然而,他们中的大多数(86%)更喜欢指导咨询。超过一半的人会同意向有风险的亲属披露遗传信息,并允许第三方如执法机构,配偶/伴侣,血亲,涉及公共安全的雇主,生命和健康保险公司在未经同意的情况下访问存储的DNA。大多数人(73%-98%)还认为,被定罪或被指控犯罪的囚犯应该需要进行DNA指纹识别,武装部队成员和所有新生儿。虽然这些只是我们国际调查结果的第一部分,它们为在中国进行有关伦理学和遗传学的国际讨论提供了初步基础。
    Attitudes towards ethical, legal and social issues in genetic research and practice were investigated in 402 genetic services providers from 30 provinces and autonomous regions in China. This was done using a Chinese version of an international survey questionnaire on ethics and genetics that has been circulated in 37 nations. In all, 255 study participants completed questionnaires (63%). The majority of the respondents (89%) reported that they agreed with the current Chinese laws and regulations on termination of pregnancy for genetic abnormalities and non-medical indications, on the basis of considerations of population control and family planning. More than half the respondents opposed sex selection by prenatal diagnosis in the absence of an X-linked disorder. However, most of them (86%) would prefer directive counseling. More than half would agree to disclose genetic information to relatives at risk, and would permit third parties such as law enforcement agencies, spouse/partner, blood relatives, employers involving public safety, life and health insurers to access stored DNA without consent. The majority (73%-98%) also thought that DNA fingerprinting should be required for prisoners convicted of or charged with crimes, members of armed forces and all newborns. Although these are only the first part of the results of our international survey, they provide an initial basis for international discussion on ethics and genetics in China.
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