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Clinical Implementation of Carrier Status Using Next Generation Sequencing (NextGen)

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ClinicalTrials.gov Identifier: NCT01902901
Recruitment Status : Completed
First Posted : July 18, 2013
Results First Posted : March 13, 2019
Last Update Posted : April 17, 2019
Sponsor:
Collaborator:
National Human Genome Research Institute (NHGRI)
Information provided by (Responsible Party):
Kaiser Permanente

Study Type Interventional
Study Design Allocation: Randomized;   Intervention Model: Parallel Assignment;   Masking: None (Open Label);   Primary Purpose: Screening
Condition Genetic Disorders
Interventions Genetic: Whole Genome Sequencing
Genetic: Carrier status testing
Enrollment 384
Recruitment Details  
Pre-assignment Details One person consented, but then immediately declined while doing the baseline survey, so she was never randomized.
Arm/Group Title Usual Care Whole Genome Sequencing
Hide Arm/Group Description

Requested carrier status testing.

Carrier status testing: Carrier status testing

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

Whole Genome Sequencing: Participants will receive Whole Genome Sequencing

Carrier status testing: Carrier status testing

Period Title: Overall Study
Started 180 203
Completed 180 201
Not Completed 0 2
Arm/Group Title Usual Care Whole Genome Sequencing Total
Hide Arm/Group Description

Requested carrier status testing.

Carrier status testing: Carrier status testing

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

Whole Genome Sequencing: Participants will receive Whole Genome Sequencing

Carrier status testing: Carrier status testing

Total of all reporting groups
Overall Number of Baseline Participants 179 202 381
Hide Baseline Analysis Population Description
381 participants completed the baseline survey and had data for analysis. One person in the usual care arm did not complete the baseline survey, and one person in the whole genome sequencing arm completed the baseline survey and then disenrolled from the study a few months later.
Age, Categorical   [1] 
Measure Type: Count of Participants
Unit of measure:  Participants
Number Analyzed 179 participants 202 participants 381 participants
<=18 years
0
   0.0%
0
   0.0%
0
   0.0%
Between 18 and 65 years
179
 100.0%
202
 100.0%
381
 100.0%
>=65 years
0
   0.0%
0
   0.0%
0
   0.0%
[1]
Measure Description: Online survey conducted at the consent visit
Age, Continuous  
Mean (Standard Deviation)
Unit of measure:  Years
Number Analyzed 179 participants 202 participants 381 participants
32  (4.2) 33  (4.6) 32  (4.4)
Sex: Female, Male  
Measure Type: Count of Participants
Unit of measure:  Participants
Number Analyzed 179 participants 202 participants 381 participants
Female
179
 100.0%
131
  64.9%
310
  81.4%
Male
0
   0.0%
71
  35.1%
71
  18.6%
Ethnicity (NIH/OMB)  
Measure Type: Count of Participants
Unit of measure:  Participants
Number Analyzed 179 participants 202 participants 381 participants
Hispanic or Latino
12
   6.7%
13
   6.4%
25
   6.6%
Not Hispanic or Latino
166
  92.7%
188
  93.1%
354
  92.9%
Unknown or Not Reported
1
   0.6%
1
   0.5%
2
   0.5%
Race (NIH/OMB)  
Measure Type: Count of Participants
Unit of measure:  Participants
Number Analyzed 179 participants 202 participants 381 participants
American Indian or Alaska Native
1
   0.6%
1
   0.5%
2
   0.5%
Asian
5
   2.8%
10
   5.0%
15
   3.9%
Native Hawaiian or Other Pacific Islander
0
   0.0%
1
   0.5%
1
   0.3%
Black or African American
2
   1.1%
2
   1.0%
4
   1.0%
White
143
  79.9%
163
  80.7%
306
  80.3%
More than one race
26
  14.5%
21
  10.4%
47
  12.3%
Unknown or Not Reported
2
   1.1%
4
   2.0%
6
   1.6%
Region of Enrollment  
Measure Type: Number
Unit of measure:  Participants
United States Number Analyzed 179 participants 202 participants 381 participants
159 153 312
1.Primary Outcome
Title Number of Patients That Receive Carrier Testing and Have Results to Return
Hide Description 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.
Time Frame Assessed annually for 4 years, data at the end of the study reported.
Hide Outcome Measure Data
Hide Analysis Population Description
All consented participants, including male partners.
Arm/Group Title Usual Care Whole Genome Sequencing
Hide Arm/Group Description:

Requested carrier status testing.

Carrier status testing: Carrier status testing

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

Whole Genome Sequencing: Participants will receive Whole Genome Sequencing

Carrier status testing: Carrier status testing

Overall Number of Participants Analyzed 180 202
Measure Type: Count of Participants
Unit of Measure: Participants
9
   5.0%
155
  76.7%
2.Secondary Outcome
Title Patient Satisfaction
Hide Description Through surveys, interviews, and observations with patients, the investigators will assess their satisfaction with the testing and return of results process.
Time Frame Assessed annually for 4 years, data at the end of Year 3 reported.
Hide Outcome Measure Data
Hide Analysis Population Description
Participants in the usual care arm don't complete satisfaction surveys. Results are WGS arm participants who received genetic testing carrier results in person and reported understanding the information
Arm/Group Title Usual Care Whole Genome Sequencing
Hide Arm/Group Description:

Requested carrier status testing.

Carrier status testing: Carrier status testing

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

Whole Genome Sequencing: Participants will receive Whole Genome Sequencing

Carrier status testing: Carrier status testing

Overall Number of Participants Analyzed 0 142
Measure Type: Count of Participants
Unit of Measure: Participants
0
141
  99.3%
3.Other Pre-specified Outcome
Title Healthcare Utilization
Hide Description 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).
Time Frame The end of Year 4
Hide Outcome Measure Data
Hide Analysis Population Description
This data was reported at the end of year 4 for all participants that had at least 6 months of follow-up data.
Arm/Group Title Usual Care Whole Genome Sequencing
Hide Arm/Group Description:

Requested carrier status testing.

Carrier status testing: Carrier status testing

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

Whole Genome Sequencing: Participants will receive Whole Genome Sequencing

Carrier status testing: Carrier status testing

Overall Number of Participants Analyzed 177 127
Mean (Standard Deviation)
Unit of Measure: Face to face medical encounters
10  (10) 10  (9)
Time Frame 4 years
Adverse Event Reporting Description [Not Specified]
 
Arm/Group Title Usual Care Whole Genome Sequencing
Hide Arm/Group Description

Requested carrier status testing.

Carrier status testing: Carrier status testing

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

Whole Genome Sequencing: Participants will receive Whole Genome Sequencing

Carrier status testing: Carrier status testing

All-Cause Mortality
Usual Care Whole Genome Sequencing
Affected / at Risk (%) Affected / at Risk (%)
Total   0/180 (0.00%)   0/203 (0.00%) 
Show Serious Adverse Events Hide Serious Adverse Events
Usual Care Whole Genome Sequencing
Affected / at Risk (%) Affected / at Risk (%)
Total   0/180 (0.00%)   0/203 (0.00%) 
Show Other (Not Including Serious) Adverse Events Hide Other (Not Including Serious) Adverse Events
Frequency Threshold for Reporting Other Adverse Events 0%
Usual Care Whole Genome Sequencing
Affected / at Risk (%) Affected / at Risk (%)
Total   0/180 (0.00%)   0/203 (0.00%) 
Certain Agreements
Principal Investigators are NOT employed by the organization sponsoring the study.
There is NOT an agreement between Principal Investigators and the Sponsor (or its agents) that restricts the PI's rights to discuss or publish trial results after the trial is completed.
Results Point of Contact
Layout table for Results Point of Contact information
Name/Title: Katrina Goddard
Organization: Kaiser Permanente Center for Health Research
Phone: 503-335-6353
EMail: katrina.ab.goddard@kpchr.org
Layout table for additonal information
Responsible Party: Kaiser Permanente
ClinicalTrials.gov Identifier: NCT01902901     History of Changes
Other Study ID Numbers: 1UM1HG007292-01 ( U.S. NIH Grant/Contract )
1UM1HG007292-01 ( U.S. NIH Grant/Contract )
First Submitted: July 10, 2013
First Posted: July 18, 2013
Results First Submitted: June 20, 2018
Results First Posted: March 13, 2019
Last Update Posted: April 17, 2019