Executive Summary
We are proposing to upgrade any existing routine biochemistry/pathology / molecular biology lab into a full-fledged Next Generation Sequencing lab at the partner location. We will supply all the instruments, kits, reagents, and consumables as a one-stop source for the complete lab setup. The primary focus will be on advanced cancer diagnostics tests and medical genetics using the latest in NGS technology - Nanopore Sequencing. We will install a GridION + P2 Solo setup so that we will have the flexibility to run 5 MinION flowcells at the same time, plus two bigger capacity PromethION flowcells when needed, thereby increasing our operational capacity from 30GB to 300GB TMO. With this setup, we can provide various NGS services to the entire hospital and diagnostics lab network in Egypt. As the sample volumes grow, we can upgrade to a PromethION 24 or 48 model in the future.
GridION plus P2 Solo gives the advantage of mix and match small, medium, and high volume samples ~48 samples simultaneously per batch run for 72 hours.
PromethION 24 model, we can go up to 1440 samples in one batch of 72 hours - $250,000 upgrade cost, not included in the current budget.
Directory of Services
1. Medical Genetics - Pediatrics
Trios Analysis - Mother, Father, Child Pathogenic Variant Detection according to ACMG, AMP, CAP, and CLIA Guidelines 2. Reproductive Medicine - Carrier Screening
Preimplantation Genetics - PGD, PGS, Carrier Screening, known history of genetic illness IVF Clinics - Embryo Screening and selection of healthy embryos for implantation (need PCPNDT license and neonatalogist approval) NIPT - Comprehensive Non-Invasive Prenatal Diagnostic testing - not just aneuploidies but a complete list of known pediatric diseases Newborn Screening - as per ACMG guidelines 3. MCED - Multi Cancer Early Detection - Self Ordered, No need for doctor's prescription
An innovative Liquid Biopsy cancer screening test (7.5 ml Whole EDTA Blood sample) for >50 cancers in men and women aged 45 and above. Similar to the Galleri test offered by Grail Inc. (Illumina)
4. Clinical Cancer Diagnostics - Physician-Ordered Tests
Both Tissue and Liquid Biopsy sample types
Clinical Whole Exome Sequencing BRCA1/2, HRR gene panel, and HRD tests TMB, MSI, and PD-L1 IHC for immune checkpoint inhibitors Tumor agnostic biomarkers panel - NTRK gene fusions, BRAF V600 Time to launch - 4 to 6 months
Estimated Sample Volumes - within this budget for first year operations
Medical genetics - 750 samples Reproductive medicine - 750 samples MCED - Liquid Biopsy - 1500 men and 1500 women - blood samples Clinical cancer diagnostics - 1500 samples