Genetic reference materials and their application to haematology

Area of Science:

• Genomics
• Biotechnology
• Clinical Diagnostics

Background:

• Genetic testing is crucial in human health but lacks certified reference materials.
• This deficiency impedes test validation and the development of new genetic assays.
• Existing genetic tests may be run without well-validated controls, impacting accuracy.

Purpose of the Study:

• To address the worldwide lack of certified genetic reference materials (GRMs).
• To establish internationally accredited GRMs for genetic testing.
• To improve the development and validation of genetic assays and diagnostic tests.

Main Methods:

• Established cell lines from phenotypically characterized patients for consistent DNA supply.
• Bulk cultivation of cell lines for genomic DNA extraction (up to 100 mg).
• Formulated, freeze-dried, and sealed DNA in glass ampoules for enhanced stability and transport.

Main Results:

• Developed the first internationally recognized reference materials for human genomic DNA.
• Created stable, easy-to-transport DNA reference materials.
• Focused on genetic tests common in hematological and cardiovascular laboratories.

Conclusions:

• The developed genetic reference materials provide essential tools for accurate genetic testing.
• These materials facilitate international accreditation and worldwide distribution.
• The program establishes a foundation for improved quality control in genetic diagnostics.