Biobanking in genomic medicine

Area of Science:

• Biobanking and Genomic Medicine
• Biomarker Discovery
• Molecular Diagnostics

Background:

• High-quality biospecimens are crucial for genomic medicine, requiring standardized preanalytic variable control in biobanking.
• Current biobanking practices often lack control over preanalytic variables, affecting biospecimen integrity and gene expression data.
• Preanalytic variations demonstrably impact biospecimen quality and downstream genomic analyses.

Purpose of the Study:

• To identify evidence-based preanalytic parameters for biobanking.
• To determine which preanalytic parameters require further investigation for standardization.

Main Methods:

• Systematic literature review of Biospecimen Research and PubMed databases.
• Inclusion criteria applied to 212 retrieved articles, with 58 selected for review.
• Analysis focused on preanalytic variables affecting biospecimen quality and gene expression.

Main Results:

• Preanalytic variables significantly degrade biospecimen quality and alter gene expression profiling.
• Identified key preanalytic variables impacting biospecimen integrity.
• Highlighted areas requiring further research for optimization.

Conclusions:

• Standardizing preanalytic variables in biobanking is essential for reliable genomic medicine.
• Further research is critical for parameters like surgical manipulation, warm ischemia, processing delays, preservation methods, and long-term storage.
• A fit-for-purpose approach is recommended for optimizing preanalytic variables based on intended use.