- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT01902901
Clinical Implementation of Carrier Status Using Next Generation Sequencing (NextGen)
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.
Study Overview
Status
Conditions
Intervention / Treatment
Detailed Description
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
Enrollment (Actual)
Phase
- Not Applicable
Contacts and Locations
Study Locations
-
-
Oregon
-
Portland, Oregon, United States, 97227
- Kaiser Permanente Northwest
-
-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Genders Eligible for Study
Description
Inclusion Criteria:
- 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
Exclusion Criteria:
- Currently pregnant
- No known or accessible male partner
- Not an English speaker
- Not a Kaiser Permanente member
Study Plan
How is the study designed?
Design Details
- Primary Purpose: Screening
- Allocation: Randomized
- Interventional Model: Parallel Assignment
- Masking: None (Open Label)
Arms and Interventions
Participant Group / Arm |
Intervention / Treatment |
---|---|
Active Comparator: Usual care
Requested 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.
|
Carrier status testing
Participants will receive Whole Genome Sequencing
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
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.
|
Assessed annually for 4 years, data at the end of the study reported.
|
Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
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.
|
Assessed annually for 4 years, data at the end of Year 3 reported.
|
Other Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
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).
|
The end of Year 4
|
Collaborators and Investigators
Sponsor
Collaborators
Investigators
- Principal Investigator: Katrina Goddard, PhD, Kaiser Permanente
- Principal Investigator: Benjamin Wilfond, MD, Seattle Children's Hospital
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Actual)
Study Completion (Actual)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Estimate)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
Other Study ID Numbers
- 1UM1HG007292-01 (U.S. NIH Grant/Contract)
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
IPD Plan Description
IPD Sharing Time Frame
IPD Sharing Access Criteria
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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