Trial Outcomes & Findings for Clinical Implementation of Carrier Status Using Next Generation Sequencing (NCT NCT01902901)

NCT ID: NCT01902901

Last Updated: 2019-04-17

Results Overview

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.

Recruitment status

COMPLETED

Study phase

Target enrollment

384 participants

Primary outcome timeframe

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

Results posted on

2019-04-17

Participant Flow

One person consented, but then immediately declined while doing the baseline survey, so she was never randomized.

Participant milestones

Participant milestones
Measure	Usual Care Requested carrier status testing. Carrier status testing: Carrier status testing	Whole Genome Sequencing 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 Study STARTED	180	203
Overall Study COMPLETED	180	201
Overall Study NOT COMPLETED	0	2

Reasons for withdrawal

Withdrawal data not reported

Baseline Characteristics

Clinical Implementation of Carrier Status Using Next Generation Sequencing

Baseline characteristics by cohort

Baseline characteristics by cohort
Measure	Usual Care n=179 Participants Requested carrier status testing. Carrier status testing: Carrier status testing	Whole Genome Sequencing n=202 Participants 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 n=381 Participants Total of all reporting groups
Age, Categorical <=18 years	0 Participants n=5 Participants	0 Participants n=7 Participants	0 Participants n=5 Participants
Age, Categorical Between 18 and 65 years	179 Participants n=5 Participants	202 Participants n=7 Participants	381 Participants n=5 Participants
Age, Categorical >=65 years	0 Participants n=5 Participants	0 Participants n=7 Participants	0 Participants n=5 Participants
Age, Continuous	32 years STANDARD_DEVIATION 4.2 • n=5 Participants	33 years STANDARD_DEVIATION 4.6 • n=7 Participants	32 years STANDARD_DEVIATION 4.4 • n=5 Participants
Sex: Female, Male Female	179 Participants n=5 Participants	131 Participants n=7 Participants	310 Participants n=5 Participants
Sex: Female, Male Male	0 Participants n=5 Participants	71 Participants n=7 Participants	71 Participants n=5 Participants
Ethnicity (NIH/OMB) Hispanic or Latino	12 Participants n=5 Participants	13 Participants n=7 Participants	25 Participants n=5 Participants
Ethnicity (NIH/OMB) Not Hispanic or Latino	166 Participants n=5 Participants	188 Participants n=7 Participants	354 Participants n=5 Participants
Ethnicity (NIH/OMB) Unknown or Not Reported	1 Participants n=5 Participants	1 Participants n=7 Participants	2 Participants n=5 Participants
Race (NIH/OMB) American Indian or Alaska Native	1 Participants n=5 Participants	1 Participants n=7 Participants	2 Participants n=5 Participants
Race (NIH/OMB) Asian	5 Participants n=5 Participants	10 Participants n=7 Participants	15 Participants n=5 Participants
Race (NIH/OMB) Native Hawaiian or Other Pacific Islander	0 Participants n=5 Participants	1 Participants n=7 Participants	1 Participants n=5 Participants
Race (NIH/OMB) Black or African American	2 Participants n=5 Participants	2 Participants n=7 Participants	4 Participants n=5 Participants
Race (NIH/OMB) White	143 Participants n=5 Participants	163 Participants n=7 Participants	306 Participants n=5 Participants
Race (NIH/OMB) More than one race	26 Participants n=5 Participants	21 Participants n=7 Participants	47 Participants n=5 Participants
Race (NIH/OMB) Unknown or Not Reported	2 Participants n=5 Participants	4 Participants n=7 Participants	6 Participants n=5 Participants
Region of Enrollment United States	159 participants n=5 Participants	153 participants n=7 Participants	312 participants n=5 Participants

PRIMARY outcome

Timeframe: Assessed annually for 4 years, data at the end of the study reported.

Population: All consented participants, including male partners.

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.

Outcome measures

Outcome measures
Measure	Usual Care n=180 Participants Requested carrier status testing. Carrier status testing: Carrier status testing	Whole Genome Sequencing n=202 Participants 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
Number of Patients That Receive Carrier Testing and Have Results to Return	9 Participants	155 Participants

SECONDARY outcome

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

Population: 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

Through surveys, interviews, and observations with patients, the investigators will assess their satisfaction with the testing and return of results process.

Outcome measures

Outcome measures
Measure	Usual Care Requested carrier status testing. Carrier status testing: Carrier status testing	Whole Genome Sequencing n=142 Participants 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
Patient Satisfaction	0 Participants	141 Participants

OTHER_PRE_SPECIFIED outcome

Timeframe: The end of Year 4

Population: This data was reported at the end of year 4 for all participants that had at least 6 months of follow-up data.

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).

Outcome measures

Outcome measures
Measure	Usual Care n=177 Participants Requested carrier status testing. Carrier status testing: Carrier status testing	Whole Genome Sequencing n=127 Participants 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
Healthcare Utilization	10 Face to face medical encounters Standard Deviation 10	10 Face to face medical encounters Standard Deviation 9

Adverse Events

Usual Care

Serious events: 0 serious events

Other events: 0 other events

Deaths: 0 deaths

Whole Genome Sequencing

Serious events: 0 serious events

Other events: 0 other events

Deaths: 0 deaths

Serious adverse events

Adverse event data not reported

Other adverse events

Adverse event data not reported

Additional Information

Katrina Goddard

Kaiser Permanente Center for Health Research

Phone: 503-335-6353

Email: [email protected]

Results disclosure agreements

Principal investigator is a sponsor employee
Publication restrictions are in place