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Completed

NCT Number: NCT01902901

Clinical Implementation of Carrier Status Using Next Generation Sequencing

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.

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Key information

Conditions

Genetic Disorders Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn

Age range

21 year–50 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Kaiser Permanente Northwest

Portland, Oregon, 97227, United States

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Whole Genome Sequencing

Genetic

Participants will receive Whole Genome Sequencing

Carrier status testing

Genetic

Carrier status testing

Primary outcomes

  1. 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.

Secondary outcomes

  1. Patient Satisfaction

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

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

Other outcomes

  1. Healthcare Utilization

    Time frame: The end of Year 4

    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).

Sponsors and collaborators

Lead sponsor

Kaiser Permanente

Other

Collaborators

  • National Human Genome Research Institute (NHGRI)

Registry information

Acronym: NextGen

Important dates

Study start
2014
Primary completion
2017
Study completion
2018
First posted
Jul 18, 2013
Registry last updated
Apr 17, 2019

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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