Genomic and Molecular Analyses

For clinical research, pharmacogenomic and biomarker-driven genomic and molecular testing is supported by medical genetics and bioinformatics expertise, covering study design, analysis, interpretation, and data packages.

Introduction

Genomic and molecular analyses play a critical role in clinical research with respect to patient safety, patient selection and stratification, monitoring of treatment response, and translational research objectives. The HelixLab and Omega Genetics infrastructure aims to deliver outputs aligned with clinical studies through protocol-compliant sample management, standardized analytical workflows, data integrity, and audit readiness.

Laboratory, analytical, and operational services provided within the Omega ecosystem are delivered through Omega’s internal units or authorized partner infrastructures that comply with applicable standards, depending on the nature of the study, regulatory requirements, and methodological scope. Accreditations, certifications, and official authorizations apply at the level of the unit or partner organization where the service is actually performed and are assessed on a study-specific basis for each service category.

Regulatory and Quality Compliance Framework

Genomic and molecular analysis operations are planned in compliance with International Council for Harmonisation (ICH) Good Clinical Practice (GCP) principles, the Good Clinical Laboratory Practice (GCLP) approach, and objectives related to data integrity and audit readiness. Data integrity is ensured in accordance with ALCOA+ principles (Attributable, Legible, Contemporaneous, Original, Accurate + Complete, Consistent, Enduring, Available), supported by audit trail records enabling retrospective traceability. • End-to-end sample integrity through a chain-of-custody approach • Lot-, run-, and platform-based quality control records and trend monitoring • Deviation management and Corrective and Preventive Action (CAPA) processes • Data security, access control, and archiving strategy

Integration Within the Omega Ecosystem

Genomic and molecular analysis processes can be coordinated under a single operational plan integrating central laboratory operations, biorepository infrastructure, and digital operational solutions. • HelixLab: sample management, pre-analytical standardization, central laboratory workflows, and reporting • Omega Genetics: medical genetics-driven analysis and interpretation, confirmatory testing, and NGS validation approach • Omega Bio: kit-based analytical infrastructure enabling standardization and methodological alignment for selected molecular methods (protocol-dependent) • Omega Biorepository: traceable sample management for long-term storage, recall, and re-analysis scenarios • OmegaCare: home sampling and standardized packaging/transport workflows where permitted by protocol • IWRS (Interactive Web Response System): orchestration of kit–sample matching and operational notifications

Genomic and Molecular Analysis Services Offered

Selection of pharmacogenomic (Pharmacogenomics, PGx) and biomarker-driven genomic and molecular tests is planned based on study endpoints, sample matrix, visit windows, and analytical performance targets.

  • B-cell and T-cell receptor repertoire profiling
  • Small and large gene panels (e.g., Familial Hypercholesterolemia, Myeloid panels, DNA damage repair genes)
  • Whole Exome Sequencing (WES)
  • Whole Genome Sequencing (WGS)
  • Germline and somatic mutation analysis
  • RNA sequencing (RNAseq) gene signatures
  • Microsatellite Instability (MSI) and Mismatch Repair (MMR) testing
  • Minimal Residual Disease (MRD) assessment
  • Tumor Mutational Burden (TMB) for immunotherapy research
  • Liquid biopsy: cell-free DNA (cfDNA) analysis using Next-Generation Sequencing (NGS) or digital Polymerase Chain Reaction (dPCR)
  • Gut microbiome and metagenomic sequencing using shotgun metagenomics and 16S ribosomal RNA (16S rRNA) approaches

DNA and RNA analyses within HelixLab and Omega Genetics workflows may include the following sample preparation steps:

  • DNA isolation: assessment of concentration, purity, and yield
  • RNA isolation: assessment of concentration, integrity, and yield

Cell processing activities within HelixLab may include the following steps based on study requirements:

  • Peripheral Blood Mononuclear Cell (PBMC) preparation
  • Cell counting and viability analysis

Companion diagnostics and genetic testing can be structured within Omega Genetics according to study objectives:

  • Sanger sequencing analysis
  • Single-gene or single-mutation genotyping
  • Fragment analysis
  • Germline mutation detection across disease types
  • Gene copy number determination using Multiplex Ligation-dependent Probe Amplification (MLPA)
  • Next-Generation Sequencing (NGS) validation

Operational Workflow

  1. Study initiation: review of protocol, endpoints, and biomarker requirements
  2. Test strategy: definition of test panels based on analyte, platform, cut-off values, and sample matrix
  3. Method verification/validation: definition of study-fit performance targets and quality control plans
  4. Site preparation: standardization of sampling manuals, labeling, pre-analytical requirements, and logistics flows
  5. Sample receipt and traceability: verification of accessioning, chain-of-custody, and storage conditions
  6. Analysis and data generation: execution of planned tests, interim controls, and deviation management
  7. Bioinformatics analysis: data processing and quality control aligned with study objectives
  8. Data verification and reporting: second-level review, consistency checks, and protocol-compliant reporting format and timelines
  9. Sponsor/CRO integration: data transfer compatible with Electronic Data Capture (EDC) and electronic Case Report Form (eCRF) systems, and query management
  10. Archiving and audit readiness: documentation, audit trail records, and inspection-ready archiving