N/A
N=383
Clinical Implementation of Carrier Status Using Next Generation Sequencing
Genetic Disorders
Bottom Line
View on ClinicalTrials.gov: NCT01902901 ↗Enrolled (actual)
383
Serious AEs
0.0%
Results posted
Mar 2019
Primary outcome: Primary: Number of Patients That Receive Carrier Testing and Have Results to Return — 9; 155 Participants
Study Design & Population
- Study type
- Interventional
- Phase
- N/A
- Interventions
- Whole Genome Sequencing (Genetic); Carrier status testing (Genetic)
- Age
- Adult · 21+ yrs
- Sex
- All
- Sponsor
- Kaiser Permanente
- Primary completion
- Jan 2017
Outcome Measures
| Outcome | Result | p-value |
|---|---|---|
| PRIMARY Number of Patients That Receive Carrier Testing and Have Results to Return |
9; 155 | — |
| SECONDARY Patient Satisfaction |
0; 141 | — |
Summary
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).
1. The investigators hypothesize that whole genome sequencing will increase the detection of carrier status for Mendelian recessive and x-linked conditions.
2. 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.
3. 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.
Eligibility Criteria
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
Data sourced from ClinicalTrials.gov (NCT01902901). Outcome figures and adverse-event rates are extracted automatically from the registry's posted results and are provided for clinician reference, not as a substitute for the primary publication.