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Clinical Implementation of Carrier Status Using Next Generation Sequencing

NCT01902901 · Status: COMPLETED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 384

Last updated 2019-04-17

Study results available
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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.

Conditions

Interventions

GENETIC

Whole Genome Sequencing

Participants will receive Whole Genome Sequencing

GENETIC

Carrier status testing

Carrier status testing

Sponsors & Collaborators

  • National Human Genome Research Institute (NHGRI)

    collaborator NIH

  • Kaiser Permanente

    lead OTHER

Principal Investigators

  • Katrina Goddard, PhD · Kaiser Permanente

  • Benjamin Wilfond, MD · Seattle Children's Hospital

Study Design

Allocation
RANDOMIZED
Purpose
SCREENING
Masking
NONE
Model
PARALLEL

Eligibility

Min Age
21 Years
Max Age
50 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2014-01-31
Primary Completion
2017-01-31
Completion
2018-05-31

Countries

  • United States

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01902901 on ClinicalTrials.gov