Genetic DisordersNextGenNCT01902901
Clinical Implementation of Carrier Status Using Next Generation Sequencing
A study testing Whole Genome Sequencing and Carrier status testing in people with Genetic Disorders, run by Kaiser Permanente at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 21 to 50 yearsHealthy volunteers can take part
- Conditions the study is for
- Genetic Disorders
- What is being tested?
- Whole Genome Sequencing and Carrier status testing
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 384 participants
- Where
- 1 siteUnited States
- Study dates
- Jan 2014to May 2018
- Phase
- Interventional
- Are there results?
- Yes, posted in the registrySummary in the doctors' view
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 21 to 50 years
- All sexes
- Healthy volunteers accepted
- Adult
Who may be able to join
- 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
Who cannot join
- Currently pregnant
- No known or accessible male partner
- Not an English speaker
- Not a Kaiser Permanente member
Trial locations and contacts
1 site in 1 country.
About this study
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).
- The investigators hypothesize that whole genome sequencing will increase the detection of carrier status for Mendelian recessive and x-linked conditions.
- 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.
- 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.
Read the detailed description
Project 1-Clinical Intervention and Outcomes Aim 1: To conduct 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).
Aim 2: To develop processes for delivering information from WGS directly into the patient's electronic medical record, and establish innovative reporting strategies that are informative for clinicians and couples acting on this information.
Aim 3: To measure for the integration of sequence information in clinical care for both carrier status and secondary findings including:
- Patient reported outcomes (PRO) on the impact on quality of life, satisfaction with care, timeliness of reporting, and use of the genomic information.
- Process outcomes such as timeliness, number of reportable findings, and time of interpretation.
Project 2 -WGS technology, informatics, and Return of Results Committee (RORC)
Aim 1: To generate whole genome sequence and interpret variants on samples randomized from the Kaiser Permanente Northwest (KPNW) preconception carrier screening cohort.
- To perform whole genome sequencing, assembly, and variant detection for each sample.
- To provide variant data on each sample with annotation and ranking of clinical significance.
- To validate data using an orthogonal platform for findings relevant to carrier status and actionable secondary findings.
Aim 2: To develop and implement a return of results committee (RORC) that incorporates evidence to assess criteria for reporting carrier status for reproductive decision making and secondary findings.
Project 3 - Ethical and Psychosocial Implications
Aim 1: To evaluate, patient and clinical perspectives on informational needs, satisfaction, knowledge, and decision-making relating to the choice to obtain results of carrier status from WGS in four categories of genetic conditions.
Aim 2: To evaluate, from patient and clinician perspectives, the immediate and downstream ethical, psychosocial, and behavioral consequences of expanded carrier screening using WGS.
Aim 3: To evaluate the impact of expanded carrier test using WGS on subsequent health care utilization, and to compare the cost of delivery WGS to usual care.
- Conditions
- Genetic Disorders
- Being tested
- Whole Genome Sequencing, Carrier status testing
- Keywords
- Whole Genome Sequencing, Carrier status, Genetics
- Medical subject headings
- Genetic Diseases, Inborn
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Whole Genome SequencingGenetic
Participants will receive Whole Genome Sequencing
Carrier status testingGenetic
Carrier status testing
| Study group | Role | What they receive |
|---|---|---|
| Usual care | Active comparator | Requested carrier status testing. Receives: 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. Receives: Genetic: Whole Genome Sequencing; Genetic: Carrier status testing |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: Assessed annually for 4 years, data at the end of the study reported.
Secondary outcomes (1)
Patient Satisfaction
Through surveys, interviews, and observations with patients, the investigators will assess their satisfaction with the testing and return of results process.
Measured: Assessed annually for 4 years, data at the end of Year 3 reported.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Jul 2013 (estimated)
- Study startJan 2014
- Primary completionJan 2017
- Study completionMay 2018
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
- Other trials for Genetic DisordersStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Screening
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 384 participants (actual)
Sponsor and investigators
- Lead sponsor
- Kaiser Permanente
- Sponsor type
- University, hospital or other
- Collaborators
- National Human Genome Research Institute (NHGRI)
- Responsible party
- Sponsor
- Investigators
- Katrina Goddard, PhD, Principal investigator, Kaiser PermanenteBenjamin Wilfond, MD, Principal investigator, Seattle Children's Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01902901
- Sponsor's protocol ID
- 1UM1HG007292-01
- Other IDs
- 1UM1HG007292-01
- Acronym
- NextGen
- Status last verified
- Apr 2019
- First submitted
- 10 Jul 2013
- Last updated
- 17 Apr 2019
- Results posted
- Yes, on ClinicalTrials.gov
- Data monitoring committee
- No
- Individual data sharing
- Yes: Genome sequencing data is shared with dbGaP, and variants are shared with Clinvar.
Study at a glance
From the registry record, last updated by the sponsor on 17 Apr 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical Implementation of Carrier Status Using Next Generation Sequencing
- ClinicalTrials.gov ID
- NCT01902901
- Acronym / sponsor ID
- NextGen / 1UM1HG007292-01
- Conditions
- Genetic Disorders
- Keywords
- Whole Genome Sequencing, Carrier status, Genetics
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 384 participants (actual)
- Lead sponsor
- Kaiser PermanenteUniversity, hospital or other
- Collaborators
- National Human Genome Research Institute (NHGRI)
- Study start
- Jan 2014 (actual)
- Primary completion
- Jan 2017 (actual)
- Study completion
- May 2018 (actual)
- First posted
- 18 Jul 2013 (estimated)
- Results
- Posted 13 Mar 2019
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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).
- The investigators hypothesize that whole genome sequencing will increase the detection of carrier status for Mendelian recessive and x-linked conditions.
- 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.
- 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.
Detailed description
Project 1-Clinical Intervention and Outcomes Aim 1: To conduct 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).
Aim 2: To develop processes for delivering information from WGS directly into the patient's electronic medical record, and establish innovative reporting strategies that are informative for clinicians and couples acting on this information.
Aim 3: To measure for the integration of sequence information in clinical care for both carrier status and secondary findings including:
- Patient reported outcomes (PRO) on the impact on quality of life, satisfaction with care, timeliness of reporting, and use of the genomic information.
- Process outcomes such as timeliness, number of reportable findings, and time of interpretation.
Project 2 -WGS technology, informatics, and Return of Results Committee (RORC)
Aim 1: To generate whole genome sequence and interpret variants on samples randomized from the Kaiser Permanente Northwest (KPNW) preconception carrier screening cohort.
- To perform whole genome sequencing, assembly, and variant detection for each sample.
- To provide variant data on each sample with annotation and ranking of clinical significance.
- To validate data using an orthogonal platform for findings relevant to carrier status and actionable secondary findings.
Aim 2: To develop and implement a return of results committee (RORC) that incorporates evidence to assess criteria for reporting carrier status for reproductive decision making and secondary findings.
Project 3 - Ethical and Psychosocial Implications
Aim 1: To evaluate, patient and clinical perspectives on informational needs, satisfaction, knowledge, and decision-making relating to the choice to obtain results of carrier status from WGS in four categories of genetic conditions.
Aim 2: To evaluate, from patient and clinician perspectives, the immediate and downstream ethical, psychosocial, and behavioral consequences of expanded carrier screening using WGS.
Aim 3: To evaluate the impact of expanded carrier test using WGS on subsequent health care utilization, and to compare the cost of delivery WGS to usual care.
Study design
- Primary purpose
- Screening
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Usual care | Active comparator | Genetic: Carrier status testingRequested carrier status testing. |
| Whole Genome Sequencing | Experimental | Genetic: Whole Genome Sequencing, Genetic: Carrier status testingThese participants will receive the carrier status testing they requested from their provider, plus whole genome sequencing. |
Who may qualify
- Ages
- 21 to 50 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult
Key inclusion criteria (5 listed)
- 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
Key exclusion criteria (4 listed)
- Currently pregnant
- No known or accessible male partner
- Not an English speaker
- Not a Kaiser Permanente member
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Whole Genome SequencingParticipants will receive Whole Genome Sequencing | Genetic | Whole Genome Sequencing |
| Carrier status testingCarrier status testing | Genetic | Usual care, Whole Genome Sequencing |
Primary outcome
Number of Patients That Receive Carrier Testing and Have Results to Return
Time frame: Assessed annually for 4 years, data at the end of the study reported.
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.
1 secondary outcome
Patient Satisfaction
Time frame: Assessed annually for 4 years, data at the end of Year 3 reported.
Results and safety
Loading the posted results from ClinicalTrials.gov…
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 17 Apr 2019.
- Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
- Individual participant dataSharing planned: Yes. Genome sequencing data is shared with dbGaP, and variants are shared with Clinvar.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Katrina Goddard, PhD principal investigator
Kaiser Permanente
Benjamin Wilfond, MD principal investigator
Seattle Children's Hospital
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Whole Genome Sequencing and Carrier status testing in people with Genetic Disorders, run by Kaiser Permanente at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 17 Apr 2019. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Yes. Results are posted in the registry (first posted 13 Mar 2019). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of Patients That Receive Carrier Testing and Have Results to Return (time frame: Assessed annually for 4 years, data at the end of the study reported.). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 17 Apr 2019.