NGS Strategy Effectiveness in Molecular Diagnosis
The coming out of Next Generation Sequencing (NGS) technologies, with documented advantages and reduced costs respect to Sanger sequencing, has provided new appealing approaches to diagnostic testing. Despite this, its use for routine diagnostic purposes requires certification in terms of reliability, as well as a cost-effectiveness evaluation.
To test the feasibility of using the Ion Torrent Personal Genome Machine (PGM) in clinical diagnosis, we assessed its performance to detect point mutations and big rearrangements previously identified with standard techniques. The diagnostic accuracy and the cost-effectiveness will be evaluated by Health Technology Assessment (HTA) analyses.
研究概览
研究类型
注册 (实际的)
参与标准
资格标准
适合学习的年龄
- 孩子
- 成人
- 年长者
接受健康志愿者
有资格学习的性别
取样方法
研究人群
描述
Inclusion Criteria:
- Clinical diagnosis of Multiple Osteochondroma
- Clinical diagnosis of Osteogenesis Imperfecta
学习计划
研究是如何设计的？
设计细节
队列和干预
团体/队列 |
干预/治疗 |
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MO patients
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OI patients
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研究衡量的是什么？
主要结果指标
结果测量 |
措施说明 |
大体时间 |
|---|---|---|
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Assessment of the accuracy of the Ion Torrent PGM platform for genetic variant detection (Diagnostic sensitivity evaluation)
大体时间：at 30 months
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The accuracy of the Ion Torrent Personal Genome (PGM) to identify disease-causing mutations in patients affected by Multiple Osteochondromas (MO) and Osteogenesis Imperfecta (OI) needs to be validated for its routine diagnostic clinical use.
To asses this, we will compare results obtained with the new NGS approach with those previously obtained with standard techniques (DHPLC/Sanger + MLPA) in a number of MO and OI patients.
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at 30 months
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HTA analysis to assess the cost-effectiveness, organizational and social implications of a screening strategy based on the IonPGM platform
大体时间：at 36 months
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To demonstrate the pertinence in the use of this innovative technology in health care, we will examine the medical, social and economic implications according with Health Technology Assessment (HTA), a multi-disciplinary field of policy analysis applied to many different health care technologies before their diffusion and use.
HTA aims at evaluating the real effectiveness of medical interventions, their proper use, access criteria and qualitative improvements, the clinical and organizational benefits, therefore suggesting how to manage, promote and discourage them.
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at 36 months
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合作者和调查者
研究记录日期
研究主要日期
学习开始 (实际的)
初级完成 (实际的)
研究完成 (实际的)
研究注册日期
首次提交
首先提交符合 QC 标准的
首次发布 (实际的)
研究记录更新
最后更新发布 (实际的)
上次提交的符合 QC 标准的更新
最后验证
更多信息
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NGS molecular screening的临床试验
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National Cancer Institute (NCI)招聘中
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The Belgian Society of Medical OncologyRoche Pharma AG; Foundation Medicine; Sciensano招聘中
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Children's Hospital of Chongqing Medical UniversityThe First Hospital of Jilin University; Xuzhou Maternity and Child Health Care Hospital; Maternal... 和其他合作者完全的
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Shanghai Chest HospitalGeneplus-Beijing Co. Ltd.; Guangzhou Burning Rock Medical Examination Institute Co., Ltd.; Sinotech... 和其他合作者未知