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Rapid Whole Genome Sequencing Study (rWGS)

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ClinicalTrials.gov Identifier: NCT03385876
Recruitment Status : Enrolling by invitation
First Posted : December 29, 2017
Last Update Posted : January 24, 2018
Sponsor:
Collaborator:
Nicklaus Children's Hospital
Information provided by (Responsible Party):
David Dimmock, MD, Rady Pediatric Genomics & Systems Medicine Institute

Brief Summary:
Rapid Whole Genome Sequencing (rWGS) has proven to provide much faster diagnoses than traditional clinical testing, including clinical Whole Exome Sequencing (WES) and standard Whole Genome Sequencing (WGS). This collaborative study seeks to provide rWGS as a research test to additional pediatric hospitals nationwide to assist in the rapid diagnosis of acutely ill children suspected of a genetic condition. The study will examine diagnosis rates, changes in clinical care as a result of a genetic diagnosis, and health economics including potential cost-effectiveness of rWGS. This study will also serve as a biorepository for future research on samples and data generated from genomic sequencing.

Condition or disease Intervention/treatment Phase
Genetic Diseases Genetic Syndrome Genetic: Genomic sequencing and molecular diagnostic results, if any Not Applicable

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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 100000 participants
Intervention Model: Single Group Assignment
Intervention Model Description: Assignment
Masking: None (Open Label)
Primary Purpose: Diagnostic
Official Title: Rapid Whole Genome Sequencing (rWGS): Rapid Genomic Sequencing for Acutely Ill Patients and the Collection, Storage, Analysis, and Distribution of Biological Samples, Genomic and Clinical Data
Actual Study Start Date : August 29, 2017
Estimated Primary Completion Date : December 31, 2050
Estimated Study Completion Date : December 31, 2050

Arm Intervention/treatment
Experimental: Enrollees
Enrollment of healthy and affected subjects to collect samples and data for a pediatric genomic biorepository. Data includes genomic sequencing and resultant molecular diagnostic results, if any.
Genetic: Genomic sequencing and molecular diagnostic results, if any
Samples will be stored in the pediatric genomic biorepository. A subset of samples will undergo genetic/genomic analysis.
Other Names:
  • Pediatric Genetic Biorepository
  • Pediatric Precision Medicine




Primary Outcome Measures :
  1. Number of samples enrolled per year [ Time Frame: Yearly through study completion estimated to be 40 years. ]
    Establishment of a biorepository for genomic/precision medicine use in pediatric population. This will make samples available to study rare genetic disorders, screening methods, diagnostic methods, other "omics," and bench research for possible treatments.


Secondary Outcome Measures :
  1. Proportion of children receiving molecular diagnoses [ Time Frame: Through study completion estimated to be 40 years. ]
    Utilize cutting edge technologies to improve both diagnostic rates and time to diagnosis for rare genetic diseases. Symptom driven return of results and analysis of clinical utility.

  2. Time taken to receive molecular diagnosis [ Time Frame: From date of enrollment until the date of documented clinical laboratory diagnosis or date of death from any cause, whichever came first, assessed up to 10 years. ]
  3. Proportion of children in which human phenotype ontology (HPO) terms accurately predict molecular diagnosis [ Time Frame: Through study completion estimated to be 40 years. ]
  4. Subject's main provider's perceived clinical utility of genomic sequencing [ Time Frame: Within one month of the return of results. ]
    Perceived utility/benefit of sequencing based on "Clinician Assessment" scale completed by patient's providers.

  5. Comparing diagnostic rates between singleton and trio analysis [ Time Frame: Within 30 days of enrollment. ]
    Marginal increase in diagnostic yield above singleton analysis based on the number of clinically confirmed diagnoses posted in medical record following singleton and trio levels of analysis in cases when both biological parents are available.



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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Criteria

Inclusion Criteria:

  • The Repository will be comprised of samples from symptomatic patients, individuals reported to be their (symptomatic or asymptomatic) biologic family members, and control individuals. In this context a "symptomatic patient" is characterized as a patient whose treating physician has identified phenotypic features and/or signs of illness potentially attributable to a genetic disorder (also referred to as "Affected" or "Proband"). There will be no age, gender, race, or health restrictions for this Biorepository Study. However, since this study will be performed at children's hospitals and since genetic disorders are more likely to be present in children less than 4 months of age these cases will likely be preferentially enrolled. Preference will also be given to those who are acutely ill, suspected of a genetic condition, and for whom a diagnosis may result in change of clinical management.

Exclusion Criteria:

  • Participants will be excluded if they are unwilling to consent to research.

A patient may be determined ineligible if there is a prior diagnosis that explains their clinical presentation, if other traditional clinical genetic testing is more appropriate at the time of referral, if the clinical presentation is insufficient at the time of referral to suggest a genetic etiology, if the parents are unable or unwilling to provide permission for participation, if child protective services is involved in the case unless the child's life is in immediate danger and research holds out a prospect of direct benefit that is important to the health or well-being of the child and is available only in the context of the research in which case permission will be obtained from the party legally responsible for medical decisions.


Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03385876


Locations
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United States, California
Rady Children's Institute for Genomic Medicine
San Diego, California, United States, 92123
United States, Florida
Nicklaus Children's Hospital
Miami, Florida, United States, 33155
Sponsors and Collaborators
Rady Pediatric Genomics & Systems Medicine Institute
Nicklaus Children's Hospital
Investigators
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Principal Investigator: David Dimmock, MD Rady Pediatric Genomics & Systems Medicine Institute
Study Director: Stephen Kingsmore Rady Pediatric Genomics & Systems Medicine Institute

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Responsible Party: David Dimmock, MD, Medical Director, Rady Pediatric Genomics & Systems Medicine Institute
ClinicalTrials.gov Identifier: NCT03385876     History of Changes
Other Study ID Numbers: rWGS Protocol #20171726
First Posted: December 29, 2017    Key Record Dates
Last Update Posted: January 24, 2018
Last Verified: January 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by David Dimmock, MD, Rady Pediatric Genomics & Systems Medicine Institute:
Rady Children's
Pediatric
Genomic
Precision Medicine
Biorepository

Additional relevant MeSH terms:
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Genetic Diseases, Inborn