Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testing
Shannon D Barker1, Sherri Bale, Jessica Booker
1Division of Laboratory Systems, Centers for Disease Control and Prevention, 1600 Clifton Rd NE, G23, Atlanta, GA 30329-4018, USA. sbarker@cdc.gov
The Journal of Molecular Diagnostics : JMD
|September 22, 2009
Summary
Well-characterized reference materials are crucial for genetic testing quality assurance. This study developed and validated 10 DNA samples, showing 100% concordance across 19 labs, ensuring reliable genetic test results.
Area of Science:
- Clinical Genetics
- Molecular Diagnostics
- Biotechnology
Background:
- Reference materials (RMs) are essential for quality assurance in clinical laboratory genetic testing.
- The Centers for Disease Control and Prevention's Genetic Testing Reference Material Coordination Program (GeT-RM) aims to increase the availability of characterized RMs.
- Previous efforts have focused on RMs for various genetic disorders and Ashkenazi Jewish population conditions.
Purpose of the Study:
- To develop and characterize 10 DNA samples with clinically relevant mutations/variants.
- To assess the commutability and genotypic accuracy of these new DNA samples.
- To evaluate the performance of these RMs across multiple clinical genetic laboratories and testing platforms.
Main Methods:
- Development and characterization of 10 DNA samples targeting mutations in MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genes.
- Analysis of DNA samples by 19 clinical genetic laboratories using diverse assays and technology platforms.
- Assessment of genotypic concordance and commutability across participating laboratories.
Main Results:
- 100% concordance was achieved for all 10 DNA samples across all 19 participating clinical genetic laboratories.
- No differences in results were observed between laboratories utilizing different testing methods or platforms.
- The developed DNA samples demonstrated high accuracy and reliability for genetic testing.
Conclusions:
- The 10 developed and characterized DNA samples are suitable for use as reference materials in clinical genetic testing.
- These RMs ensure consistent quality control, test validation, and proficiency testing for genetic assays.
- The availability of these RMs from Coriell Cell Repositories and characterization data on the GeT-RM website supports widespread adoption.
