Clinical Implementation of Carrier Status Using Next Generation Sequencing (NextGen)
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|ClinicalTrials.gov Identifier: NCT01902901|
Recruitment Status : Completed
First Posted : July 18, 2013
Results First Posted : March 13, 2019
Last Update Posted : April 17, 2019
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.
|Condition or disease||Intervention/treatment||Phase|
|Genetic Disorders||Genetic: Whole Genome Sequencing Genetic: Carrier status testing||Not Applicable|
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)
Aim 1: To generate whole genome sequence and interpret variants on samples randomized from the Kaiser Permanente Northwest (KPNW) preconception carrier screening cohort.
- To perform whole genome sequencing, assembly, and variant detection for each sample.
- To provide variant data on each sample with annotation and ranking of clinical significance.
- To validate data using an orthogonal platform for findings relevant to carrier status and actionable secondary findings.
Aim 2: To develop and implement a return of results committee (RORC) that incorporates evidence to assess criteria for reporting carrier status for reproductive decision making and secondary findings.
Project 3 - Ethical and Psychosocial Implications
Aim 1: To evaluate, patient and clinical perspectives on informational needs, satisfaction, knowledge, and decision-making relating to the choice to obtain results of carrier status from WGS in four categories of genetic conditions.
Aim 2: To evaluate, from patient and clinician perspectives, the immediate and downstream ethical, psychosocial, and behavioral consequences of expanded carrier screening using WGS.
Aim 3: To evaluate the impact of expanded carrier test using WGS on subsequent health care utilization, and to compare the cost of delivery WGS to usual care.
|Study Type :||Interventional (Clinical Trial)|
|Actual Enrollment :||384 participants|
|Intervention Model:||Parallel Assignment|
|Masking:||None (Open Label)|
|Official Title:||Clinical Implementation of Carrier Status Using Next Generation Sequencing|
|Actual Study Start Date :||January 2014|
|Actual Primary Completion Date :||January 2017|
|Actual Study Completion Date :||May 2018|
Active Comparator: Usual care
Requested carrier status testing.
Genetic: Carrier status testing
Carrier status testing
Experimental: Whole Genome Sequencing
These participants will receive the carrier status testing they requested from their provider, plus whole genome sequencing.
Genetic: Whole Genome Sequencing
Participants will receive Whole Genome Sequencing
Genetic: Carrier status testing
Carrier status testing
- Number of Patients That Receive Carrier Testing and Have Results to Return [ Time Frame: 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.
- Patient Satisfaction [ Time Frame: Assessed annually for 4 years, data at the end of Year 3 reported. ]Through surveys, interviews, and observations with patients, the investigators will assess their satisfaction with the testing and return of results process.
- Healthcare Utilization [ Time Frame: The end of Year 4 ]The investigators will evaluate if expanded carrier testing using WGS causes an increase in subsequent health care utilization compared to usual care (typically just cystic fibrosis carrier testing).
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01902901
|United States, Oregon|
|Kaiser Permanente Northwest|
|Portland, Oregon, United States, 97227|
|Principal Investigator:||Katrina Goddard, PhD||Kaiser Permanente|
|Principal Investigator:||Benjamin Wilfond, MD||Seattle Children's Hospital|