Ultra Rapid GEnome Sequencing (URGES)
Long-read Human Genome Sequencing in 72 Hours: "Ultra Rapid GEnome Sequencing"
Next-generation sequencing (NGS) has revolutionized the field of genomics, allowing the detection of genetic abnormalities for diagnostic or therapeutic purposes. Turnaround times for exome or genome sequencing results have decreased to an average of 3 to 6 months.
An increasing number of diagnostic and therapeutic fields are benefiting from the advancements in ultra-rapid sequencing. In some situations, a shorter turnaround time may be useful for making therapeutic and/or interventional management decisions.
This study aims to explore the feasibility of very rapid whole-genome sequencing, ultra-rapid genome sequencing (URGES) in 72 hours, that could benefit patients with cancer or rare diseases.
Study Overview
Status
Conditions
Intervention / Treatment
Detailed Description
- Blood sample (5 ml)
- Extraction of genomic DNA from lymphocytes
- Ultra-rapid genome sequencing (48 hours for a whole genome), using the PromethION P2 Solo sequencer (Oxford Nanopore Technologies)
- Bioinformatics analysis of raw high-throughput sequencing data with SeqOne platform
- Medical interpretation of molecular data: NGS data must be interpreted by a multidisciplinary decision-support team to determine mutation actionability and identify potential "drivers"
Study Type
Enrollment (Actual)
Contacts and Locations
Study Locations
-
-
Ile-De-France
-
Levallois-Perret, Ile-De-France, France, 92300
- Institut Rafael
-
-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
- Adult
- Older Adult
Accepts Healthy Volunteers
Sampling Method
Study Population
Description
Inclusion Criteria:
- No known progressive or chronic diseases
- Consent for participation
- Affiliation to a social security system
Exclusion Criteria:
- Unable to understand
- Pregnant or breastfeeding women
- Subject under protection of the adults (guardianship, curators or safeguard of justice)
Study Plan
How is the study designed?
Design Details
Cohorts and Interventions
Group / Cohort |
Intervention / Treatment |
|---|---|
|
Healthy Volunteers
|
DNA extraction from blood sample and whole genome sequencing
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
|---|---|---|
|
Time (in hours) for long read human genome sequencing and data interpretation
Time Frame: 72 hours
|
Time (in hours) to complete a long-read human genome sequencing, from the extracted DNA to the molecular and clinical results
|
72 hours
|
Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
|---|---|---|
|
Sequencing coverage
Time Frame: 72 hours
|
>30 X respective to refseq BED
|
72 hours
|
|
Sequencing depth
Time Frame: 72 hours
|
>30 X respective to refseq BED
|
72 hours
|
|
Number of variants called appropriately or not
Time Frame: 72 hours
|
72 hours
|
Collaborators and Investigators
Sponsor
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Actual)
Study Completion (Actual)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Keywords
Other Study ID Numbers
- 2024/03
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
product manufactured in and exported from the U.S.
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