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

This study is ongoing, but not recruiting participants.
Sponsor:
Collaborator:
National Human Genome Research Institute (NHGRI)
Information provided by (Responsible Party):
Kaiser Permanente
ClinicalTrials.gov Identifier:
NCT01902901
First received: July 10, 2013
Last updated: February 1, 2017
Last verified: February 2017
  Purpose

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.

Condition Intervention
Genetic Disorders
Genetic: Whole Genome Sequencing
Genetic: Carrier status testing

Study Type: Interventional
Study Design: Allocation: Randomized
Intervention Model: Single Group Assignment
Masking: No masking
Primary Purpose: Screening
Official Title: Clinical Implementation of Carrier Status Using Next Generation Sequencing

Further study details as provided by Kaiser Permanente:

Primary Outcome Measures:
  • Number of patients that receive carrier testing and have results to return [ Time Frame: Annually for 4 years ]
    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.


Secondary Outcome Measures:
  • Patient satisfaction [ Time Frame: Annually for 4 years ]
    Through surveys, interviews, and observations with patients, the investigators will assess their satisfaction with the testing and return of results process.


Other Outcome Measures:
  • Provider satisfaction [ Time Frame: Annually for 4 years ]
    Through interviews and observations with providers, the investigators will assess the participants' satisfaction with the testing and return of results process.

  • Cost-analysis [ Time Frame: Year 4 ]
    The investigators will evaluate the impact of expanded carrier test using WGS on subsequent health care utilization, and compare the cost of delivery of WGS to usual care.


Enrollment: 384
Study Start Date: January 2014
Estimated Study Completion Date: May 2017
Primary Completion Date: January 2017 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Active Comparator: Usual care
Requested carrier status testing.
Genetic: Carrier status testing
Carrier status testing
Experimental: Whole Genome Sequencing
These participants will receive the carrier status testing they requested from their provider, plus whole genome sequencing.
Genetic: Whole Genome Sequencing
Participants will receive Whole Genome Sequencing
Genetic: Carrier status testing
Carrier status testing

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:

  1. Patient reported outcomes (PRO) on the impact on quality of life, satisfaction with care, timeliness of reporting, and use of the genomic information.
  2. 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.

  1. To perform whole genome sequencing, assembly, and variant detection for each sample.
  2. To provide variant data on each sample with annotation and ranking of clinical significance.
  3. 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.

  Eligibility

Ages Eligible for Study:   21 Years to 50 Years   (Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Criteria

Inclusion Criteria:

  • 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

Exclusion Criteria:

  • Currently pregnant
  • No known or accessible male partner
  • Not an English speaker
  • Not a Kaiser Permanente member
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01902901

Locations
United States, Oregon
Kaiser Permanente Northwest
Portland, Oregon, United States, 97227
Sponsors and Collaborators
Kaiser Permanente
National Human Genome Research Institute (NHGRI)
Investigators
Principal Investigator: Katrina Goddard, PhD Kaiser Permanente
Principal Investigator: Benjamin Wilfond, MD Seattle Children's Hospital
  More Information

Responsible Party: Kaiser Permanente
ClinicalTrials.gov Identifier: NCT01902901     History of Changes
Other Study ID Numbers: 1UM1HG007292-01 ( US NIH Grant/Contract Award Number )
Study First Received: July 10, 2013
Last Updated: February 1, 2017
Individual Participant Data  
Plan to Share IPD: Yes
Plan Description: Genome sequencing data is shared with dbGaP, and variants are shared with Clinvar.

Keywords provided by Kaiser Permanente:
Whole Genome Sequencing
Carrier status
Genetics

ClinicalTrials.gov processed this record on March 30, 2017