N/A Completed N=383 Randomized Screening

Clinical Implementation of Carrier Status Using Next Generation Sequencing

genetic disorders

Source: ClinicalTrials.gov NCT01902901 ↗

Enrolled (actual)

383

Serious AEs

0.0%

Results posted

Mar 2019

Primary outcomePrimary: Number of Patients That Receive Carrier Testing and Have Results to Return — 9; 155 Participants

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.

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	—

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

View full record on ClinicalTrials.gov →

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. Informational only — not medical advice.