Ophthalmic DNA Diagnostic Testing Service

眼科DNA诊断检测服务

• 批准号: 7970230
• 负责人: Xinjing Wang
• 金额: $ 53.59万
• 依托单位: NATIONAL EYE INSTITUTE
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/7970230
• 关键词: Clinic; Clinical; Clinical Services; Coloboma; Communities; Concentration measurement; DNA; Diagnostic; Diagnostic tests; Disease; Equipment; Equipment and supply inventories; Exons; Eye; Facility Regulation; Genes; Genotype; Goals; Kidney; Laboratories; Licensing; Link; Location; Measures; Molecular; Monitor; Occupations; Operative Surgical Procedures; Patient Recruitments; Personnel Turnover; Preparation; Procedures; Protocols documentation; Publications; Recruitment Activity; Registries; Regulation; Reporting; Research; Resources; Retinitis Pigmentosa; Sampling; Services; Syndrome; Testing; Time; Training; Tube; United States National Institutes of Health; Validation; Work; Writing; X-Linked Retinoschisis; experience; improved; laboratory facility; programs; research clinical testing

There was a short period of time in the past year that NEI DNA Diagnostic Laboratory suspended DNA diagnostic testing activity due to completed testing personnel turnover and laboratory facility relocation. The lab managed only to maintain the DNA extraction activity. New directorship started in the early October, 2008. New director had recruited a new testing biologist in November, 2008. After original NIH new-hired trainings for the director and the testing biologist, the lab conducted a very thorough review of lab operation for the Quality Assessment (QA) purposes. A plan has been developed to improve the lab operation and re-install the suspended diagnostic testing. Preparation for CLIA renewal inspection: The NEI DNA Diagnostic Laboratory has the CLIA license to conduct the clinical molecular testing. This license will be expired in November, 2009 and subject to be renewed. There will be an inspection by CMS CLIA office in order to certify a new license to the lab. To prepare for the license renew and inspection, lab has been reviewing the compliance to CLIA regulations. The lab has re-organized the documents, re-written the QA protocols, and performed necessary remedial actions. The lab will have a NIH internal pre-inspection by NIH CLIA resources center in later September, 2009. NEI DNA lab facilities: To comply with the CLIA regulations for facility requirement, with the great supports from the NEI Intramural Scientific Director and Deputy Scientific Director, the lab was first assigned temporary additional space to resume clinical operation. The lab re-organized and partially relocated in February, 2009. Later, the lab was assigned with current more appropriate spaces in July, 2009 and had another partial relocation in August, 2009. The lab will stay in current location as planned. Revalidation: The new hired testing biologist was sent to Applied Biosystems Inc training class at Rockville for 3130xl sequencer use. He was trained for clinical procedures and managing of equipments for CLIA purposes. And he was also trained to serve as lab manager to hold lab credit card for purchasing purposes. The lab started the re-validation of suspended protocols after first relocation. The first re-validated protocol was the DNA testing for the gene responsible for the X-linked Juvenile Retinoschisis, XLRS1 gene. This re-validation was completed in May, 2009. Now, the lab is working on re-validation of another gene, RPGR, responsible for X-linked Retinitis Pigmentosa, RP3. RPGR is a gene with 19 exons. The job of re-validation takes time. Especially, one of the major target exon, ORF15, is 1.7 kb long. Many publications demonstrated and other CLIA labs in eyeGENE network experienced the technical difficulties in PCR amplifications of this exon. Now the lab is making progress on re-validation. Resolving backlog: There was a backlog from the past year. Many submitted samples were waiting for re-installation of DNA testing. After re-validation of XLRS1, the lab has completed 12 pending RS cases in the last two months, and sent out 18 clinical reports including six reports to eyeGENE program. Developing new clinical tests: The lab is planning to develop new clinical tests. Now the lab is working on a gene responsible for Renal-coloboma syndrome, PAX2 gene with help from new OGVFB fellow. Quality improvement of eyeGENE program: The lab identified earlier that eyeGENE DNA extractions are not sufficient monitored for QA purposes because DNA concentration measurement was not done for every DNA extracted. To comply with the QA requirements, the lab developed and validated a new protocol using newly purchased equipment, Nanodrop Spectrophotometer N-1000, to start measuring DNA concentration on every new sample. The lab also implemented this quality assessment procedure to every stored DNA in the eyeGENE registry. The job has been completed and total 1738 DNA tubes have been measured. Inventory of eyeGENE DNA storage: The lab identified earlier that the eyeGENE program should have a more efficient procedure to organize and track any changes in DNA storage. The eyeGENE program has just reached 1000 samples milestone and is moving to next goal for 2500 samples. It would be very important to be more efficient and organized. Therefore, the lab decided to perform inventory and reorganization. Now the inventory is completed and reorganization is in progress.

在过去的一年中，NEI DNA诊断实验室暂停了由于完成测试人员流动和实验室设施搬迁而导致的DNA诊断测试活动。 该实验室仅用于维持DNA提取活性。 新董事职位于2008年10月上旬开始。新任董事于2008年11月招募了一名新的测试生物学家。在为董事和测试生物学家的原始NIH新租用培训之后，该实验室对实验室操作进行了非常详尽的审查，以进行质量评估（QA）目的。 已经制定了一项计划来改善实验室操作并重新安装悬挂的诊断测试。 准备CLIA更新检查： NEI DNA诊断实验室具有CLIA许可证，可以进行临床分子测试。该许可将于2009年11月过期，并将续签。 CMS CLIA办公室将进行检查，以证明对实验室的新许可证。 为了准备续签许可证和检查，实验室一直在审查对CLIA法规的遵守情况。 该实验室重新组织了文件，重新编写了QA协议，并执行了必要的补救措施。该实验室将于2009年9月下旬由NIH Clia Resources Center进行NIH内部预测。 NEI DNA实验室设施： 为了遵守CLIA规定的设施要求，并获得了NEI壁内科学总监和副科学总监的大力支持，该实验室首先被分配了临时额外的空间来恢复临床操作。 实验室重组并部分于2009年2月重新安置。后来，该实验室于2009年7月分配了当前更合适的空间，并于2009年8月进行了另一部分搬迁。该实验室将按计划保留在当前位置。 重新验证： 新型雇用的测试生物学家被送往Rockville的Applied Biosystems Inc培训课程，用于3130xl Sequencer使用。 他接受了临床程序的培训和用于CLIA目的的设备管理。 他还接受了培训，可以担任实验室经理，以持有实验室信用卡以购买目的。实验室首次搬迁后开始重新验证悬浮协议。第一个重新验证的方案是负责X连锁幼体视网膜chisis XLRS1基因的基因的DNA测试。这种重新验证于2009年5月完成。现在，该实验室正在努力重新验证另一个基因RPGR，负责X连锁性视网膜炎，色素色素RP3。 RPGR是一个具有19个外显子的基因。重新验证的工作需要时间。 特别是，主要目标外显子之一ORF15为1.7 kb。 Eyegene网络中的许多出版物和其他CLIA实验室在该外显子的PCR扩增中遇到了技术困难。现在，实验室正在重新验证方面取得进展。 解决积压： 过去一年有一个积压。许多提交的样品正在等待重新安装DNA测试。在重新验证XLRS1之后，该实验室在过去两个月中完成了12例待处理的RS病例，并发送了18份临床报告，其中包括六份向Eyegene计划的报告。 开发新的临床测试： 该实验室计划开发新的临床测试。现在，该实验室正在研究新的OGVFB研究员的帮助下，负责肾 - 可癌综合征PAX2基因的基因。 Eyegene计划的质量改进： 该实验室早些时候确定的是，Eyegene DNA提取不足以出于质量质量检查的目的监测，因为并非针对每个提取的DNA进行DNA浓度测量。 为了符合质量检查要求，实验室使用新购买的设备Nanodrop分光光度计N-1000开发了新协议，以开始测量每个新样品的DNA浓度。 该实验室还将这种质量评估程序实施了Eyegene注册中的每个存储的DNA。 该作业已经完成，总共测量了1738个DNA管。 Eyegene DNA存储的清单： 该实验室早些时候确定，Eyegene计划应具有更有效的程序来组织和跟踪DNA存储中的任何变化。 Eyegene计划刚刚达到了1000个样本里程碑，并以2500个样品的身份转向下一个目标。 提高高效和有条理将非常重要。 因此，实验室决定执行库存和重组。现在库存已经完成，并且正在进行重组。