NCT01902901

Brief 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. 1.The investigators hypothesize that whole genome sequencing will increase the detection of carrier status for Mendelian recessive and x-linked conditions.
  2. 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. 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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
384

participants targeted

Target at P75+ for not_applicable

Timeline
Completed

Started Jan 2014

Longer than P75 for not_applicable

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

July 10, 2013

Completed
8 days until next milestone

First Posted

Study publicly available on registry

July 18, 2013

Completed
6 months until next milestone

Study Start

First participant enrolled

January 1, 2014

Completed
3 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

January 1, 2017

Completed
1.3 years until next milestone

Study Completion

Last participant's last visit for all outcomes

May 1, 2018

Completed
11 months until next milestone

Results Posted

Study results publicly available

March 13, 2019

Completed
Last Updated

April 17, 2019

Status Verified

April 1, 2019

Enrollment Period

3 years

First QC Date

July 10, 2013

Results QC Date

June 20, 2018

Last Update Submit

April 8, 2019

Conditions

Genetic Disorders

Keywords

Whole Genome SequencingCarrier statusGenetics

Outcome Measures

Primary Outcomes (1)

  • Number of Patients That Receive Carrier Testing and Have Results to Return

    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 Outcomes (1)

  • Patient Satisfaction

    Assessed annually for 4 years, data at the end of Year 3 reported.

Other Outcomes (1)

  • Healthcare Utilization

    The end of Year 4

Study Arms (2)

Usual care

ACTIVE COMPARATOR

Requested carrier status testing.

Genetic: Carrier status testing

Whole Genome Sequencing

EXPERIMENTAL

These participants will receive the carrier status testing they requested from their provider, plus whole genome sequencing.

Genetic: Whole Genome SequencingGenetic: Carrier status testing

Interventions

Whole Genome SequencingGENETIC

Participants will receive Whole Genome Sequencing

Whole Genome Sequencing
Carrier status testingGENETIC

Carrier status testing

Usual careWhole Genome Sequencing

Eligibility Criteria

Age21 Years - 50 Years
Sexall
Healthy VolunteersYes
Age GroupsAdult (18-64)

You may qualify if:

  • 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

You may not qualify if:

  • Currently pregnant
  • No known or accessible male partner
  • Not an English speaker
  • Not a Kaiser Permanente member

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Kaiser Permanente Northwest

Portland, Oregon, 97227, United States

Location

MeSH Terms

Conditions

Genetic Diseases, Inborn

Interventions

Whole Genome Sequencing

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Intervention Hierarchy (Ancestors)

Sequence Analysis, DNASequence AnalysisGenetic TechniquesInvestigative Techniques

Results Point of Contact

Title
Katrina Goddard
Organization
Kaiser Permanente Center for Health Research
katrina.ab.goddard@kpchr.org
503-335-6353

Study Officials

  • Katrina Goddard, PhD

    Kaiser Permanente

    PRINCIPAL INVESTIGATOR

  • Benjamin Wilfond, MD

    Seattle Children's Hospital

    PRINCIPAL INVESTIGATOR

Publication Agreements

PI is Sponsor Employee
No
Restrictive Agreement
No

Study Design

Study Type
interventional
Phase
not applicable
Allocation
RANDOMIZED
Masking
NONE
Purpose
SCREENING
Intervention Model
PARALLEL
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

July 10, 2013

First Posted

July 18, 2013

Study Start

January 1, 2014

Primary Completion

January 1, 2017

Study Completion

May 1, 2018

Last Updated

April 17, 2019

Results First Posted

March 13, 2019

Record last verified: 2019-04

Data Sharing

IPD Sharing
Will share

Genome sequencing data is shared with dbGaP, and variants are shared with Clinvar.

Time Frame
Ongoing
Access Criteria
Request to dbGaP

Locations

US(1)