Clinical Implementation of Carrier Status Using Next Generation Sequencing
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 384
- 试验地点
- 2
- 主要终点
- Number of Patients That Receive Carrier Testing and Have Results to Return
研究概览
简要总结
This study is conducting a randomized controlled trial (RCT) with up to 400 subjects (women & partners) seeking pre-conception carrier testing to assess the impact of the program using Whole Genome Sequencing (WGS).
- The investigators hypothesize that whole genome sequencing will increase the detection of carrier status for Mendelian recessive and x-linked conditions.
- The investigators hypothesize that parents will act on the knowledge of their carrier status by making different reproductive choices than parents who do not receive this information.
- The investigators hypothesize that the psychosocial risks are increased among parents who receive expanded carrier screening using Next Generation Sequencing (NGS) compared with usual care.
详细描述
Project 1-Clinical Intervention and Outcomes Aim 1: To conduct a randomized controlled trial (RCT) with up to 400 subjects (women & partners) seeking pre-conception carrier testing to assess the impact of the program using Whole Genome Sequencing (WGS).
Aim 2: To develop processes for delivering information from WGS directly into the patient's electronic medical record, and establish innovative reporting strategies that are informative for clinicians and couples acting on this information.
Aim 3: To measure for the integration of sequence information in clinical care for both carrier status and secondary findings including:
- Patient reported outcomes (PRO) on the impact on quality of life, satisfaction with care, timeliness of reporting, and use of the genomic information.
- Process outcomes such as timeliness, number of reportable findings, and time of interpretation.
Project 2 -WGS technology, informatics, and Return of Results Committee (RORC)
研究设计
- 研究类型
- Interventional
- 分配方式
- Randomized
- 干预模型
- Parallel
- 主要目的
- Screening
- 盲法
- None
入排标准
- 年龄范围
- 21 Years 至 50 Years（Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Seeking pre-conception carrier status testing or had carrier testing during pregnancy
- •Women with a male partner that can be contacted
- •Kaiser Permanente Northwest members
- •English speaking
- •Not currently pregnant
排除标准
- •Currently pregnant
- •No known or accessible male partner
- •Not an English speaker
- •Not a Kaiser Permanente member
研究组 & 干预措施
Usual care
Requested carrier status testing.
干预措施: Carrier status testing (Genetic)
Whole Genome Sequencing
These participants will receive the carrier status testing they requested from their provider, plus whole genome sequencing.
干预措施: Whole Genome Sequencing (Genetic)
Whole Genome Sequencing
These participants will receive the carrier status testing they requested from their provider, plus whole genome sequencing.
干预措施: Carrier status testing (Genetic)
结局指标
主要结局
Number of Patients That Receive Carrier Testing and Have Results to Return
时间窗: Assessed annually for 4 years, data at the end of the study reported.
The investigators will record the number of patients that have both single carrier status testing (usual care) and WGS testing and track how many patients have results to return.
次要结局
- Patient Satisfaction(Assessed annually for 4 years, data at the end of Year 3 reported.)