An interventional study of Genomic sequencing and molecular diagnostic results, if any in Genetic Diseases and Genetic Syndrome, sponsored by Rady Pediatric Genomics & Systems Medicine Institute. Enrolling by invitation at 1 site in United States. Per ClinicalTrials.gov, last updated 2021-12-23.
Sponsored by Rady Pediatric Genomics & Systems Medicine Institute · Not applicable, Interventional, and Diagnostic
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.
Rapid Whole Genome Sequencing (rWGS) is a new technology that is able to deliver symptom-driven diagnoses of childhood-onset genetic diseases in as little as 26 hours. Investigators at RCIGM have shown that rWGS has higher diagnostic rates than traditional molecular testing in acutely ill infants suspected of a genetic diagnosis, with diagnostic rates up to 57%. Similarly, in the infant population, RCIGM researchers have shown that these diagnoses are useful in directing clinical care, with up to 70% of infants who receive a diagnosis having a subsequent change in management. In some cases, a timely diagnosis results in treatments that are lifesaving. RCIGM investigators have shown that up to 25% of infants who receive a diagnosis have a subsequent change in management that prevents morbidity. More data is needed to determine whether these results are found at other institutions, among other ethnic and racial groups, and in larger numbers of patients. More data is needed to examine the acute and long-term clinical utility of such testing, both in newborns and older children, as well as to determine the cost-effectiveness of this testing for other institutions. As such, this study will be a collaboration of multiple sites to share data and experiences of rWGS with the scientific community as well as hospital administrations, insurance companies and other key stakeholders who may be interested in promoting rWGS as a first-line clinical test in the future.
The study will provide clinical laboratory-confirmed results related to the affected patient's symptoms, including optional incidental findings unless subjects opt-out for these additional results, to allow for these research findings to be used in clinical care. Furthermore, this study will aggregate data regarding standard clinical genetic testing from multiple sites as well as cost measures to not only identify differences in diagnostic rates, diagnostic accuracy, and times to diagnoses, but to determine the cost-effectiveness of this testing and subsequent changes in care management. Clinical utility will be defined as changes in care that follow directly from results of genetic testing (both positive and negative), including standard clinical tests and rWGS. This data will be used to further examine the analytic, diagnostic, and clinical utility and cost-effectiveness of this testing.
rWGS methods continue to improve, and pediatric genomic medicine is a very new field of medical practice. This study will also inform investigators regarding best practices, both in terms of traditional medical outcomes and patient-centered outcomes. Consequently, this study will also act as a biorepository for samples and data as the ability to share genomic and phenotypic data amongst researchers is critical to progressing our understanding of the nascent field of pediatric genomic medicine.
Specific Aims:
583 studies on the registry are indexed under Genetic Diseases, Inborn; 157 are open to participants now.
This study's planned enrollment of 100,000 is above the median of 40 across 305 interventional studies indexed under Genetic Diseases, Inborn.
Browse Genetic Diseases, Inborn studies →Rady Pediatric Genomics & Systems Medicine Institute is the lead sponsor of 9 studies on the registry; 6 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
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.
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.
Also known as: Pediatric Genetic Biorepository, Pediatric Precision Medicine
Number of samples enrolled per year
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.
Time frame: Yearly through study completion estimated to be 40 years.
Proportion of children receiving molecular diagnoses
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.
Time frame: Through study completion estimated to be 40 years.
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.
Proportion of children in which human phenotype ontology (HPO) terms accurately predict molecular diagnosis
Time frame: Through study completion estimated to be 40 years.
Subject's main provider's perceived clinical utility of genomic sequencing
Perceived utility/benefit of sequencing based on "Clinician Assessment" scale completed by patient's providers.
Time frame: Within one month of the return of results.
Comparing diagnostic rates between singleton and trio analysis
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.
Time frame: Within 30 days of enrollment.
Plan to share: No
Started Aug 2017 (actual). Primary completion is estimated for Dec 2050, 400 months after the start.
Of 64 non-industry interventional studies with no phase under Genetic Diseases, Inborn, half reached primary completion within 41 months of starting (the median), counting those still running; a quarter within 22 and three quarters within 60. This study's planned 400 months is above that.
Counting every sponsor, half of 66 studies reached it within 41 months; a quarter within 22 and three quarters within 60.
How these figures are worked out, and which studies are left out of them.
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
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Rady Pediatric Genomics & Systems Medicine Institute