Ultra Rapid GEnome Sequencing

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.

• 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"

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)