Whole Genome Sequencing in the Neonatal Intensive Care Unit
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 3
- 试验地点
- 1
- 主要终点
- Diagnosis success rate
研究概览
简要总结
This research is being done to see if whole genome sequencing (WGS) improves the diagnosis of patients in the NICU. Using WGS in this way, which is relatively new, researchers at Penn State College of Medicine will look at approximately 5000 genes that are known to be associated with genetic diseases to see if the neonatal patient has a known disease causing mutation. Comparing the parents' DNA with the child's will help the investigators better understand the child's DNA.
详细描述
1.0 Objectives
1.1 Study Objectives The goal of this research project is to assess the potential for applying whole genome sequencing (WGS) as a diagnostic tool in the neonatal intensive care unit. Newborn children who require treatment in the neonatal intensive care unit (NICU) often suffer from genetic defects, the nature of which is difficult to diagnose. The investigators currently know of more than 5000 genes in which mutations may cause diseases that can affect newborn children, so determining which one is responsible for a new neonatal patient's disease is daunting. However, many of these diseases can be effectively treated if they are diagnosed in a timely fashion. The investigators propose to use new sequencing instrumentation coupled with rapid analytical tools to sequence NICU patients along with both parents to identify whether a patient carries a de novo mutation or compound heterozygous variants in one of the known disease genes. If so, the mutation will be confirmed in an in-house CLIA laboratory and the results provided within 72 hours to attending neonatologists to inform treatment decisions.
1.2 Primary Study Endpoints
The primary goal of this protocol will be an assessment of the degree to which WGS improves diagnosis of patients admitted to the NICU. The investigators propose to perform sequencing on approximately 50 patients over the course of this project. The investigators will evaluate on an ongoing basis the success rate for identifying clinically actionable genetic defects in the selected patients, particularly as that would inform the initial selection criteria used to enroll the patient. This information will be useful to determine whether such sequencing efforts can improve the outcome of NICU patients and which class of patients are most likely to benefit from the procedure.
1.3 Secondary Study Endpoints
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Retrospective
入排标准
- 年龄范围
- 1 Day 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Age: ≤ 180 days
- •Sex: male or female
- •Admitted to the Hershey Medical Center NICU with a clinical presentation consistent with a genetic disease, e.g. congenital malformations, metabolic disorder, uncontrolled seizures or unexplained abnormal neurological findings.
- •Both Biological Parents are involved in the study
排除标准
- •Age: > 180 days
- •Known genetic mutation.
- •Biological Parents : Inclusion Criteria
- •Age: ≥18 years
- •Both biological parents must be willing to participate in the research.
- •Fluent in written and spoken English.
- •Biological Parents: Exclusion Criteria
- •Age: <18 years
- •Cognitive impairment
结局指标
主要结局
Diagnosis success rate
时间窗: 1-2 years
The investigator will determine the percent of patients for which sequencing provided a correct genetic disease diagnosis, relative to that obtained by standard clinical evaluation.
次要结局
- Effectiveness of exome sequencing relative to whole genome sequencing.(1-2 years)
研究者
James Broach
Director of the Institute for Personalized Medicine
Milton S. Hershey Medical Center