Quality standards for DNA sequence variation databases to improve clinical management under development in Australia.
B Bennetts1, M Caramins2, A Hsu3
1Western Sydney Genetics Program, The Children's Hospital at Westmead, Westmead, NSW 2145, Australia.
Applied & Translational Genomics
|June 14, 2016
Summary
Clinical diagnostics require high-quality DNA sequence variation databases. The Royal College of Pathologists of Australasia and partners are developing new standards for these databases in Australia.
Area of Science:
- Genetics
- Bioinformatics
- Clinical Diagnostics
Background:
- Comparing DNA sequence variations to databases is crucial for clinical diagnostics.
- Existing databases often lack the necessary quality for reliable clinical use.
Purpose of the Study:
- To develop quality standards for DNA sequence variation databases used in Australian clinical settings.
- To ensure clinical diagnostic accuracy and reliability.
Main Methods:
- Collaboration between The Royal College of Pathologists of Australasia (RCPA), Human Genetics Society of Australasia (HGSA), and Human Variome Project (HVP).
- Development of specific quality requirements and standards for clinical DNA variation databases.
Main Results:
- Establishment of a framework for assessing and improving DNA variation database quality.
- Identification of key criteria for clinical diagnostic suitability.
Conclusions:
- The developed standards aim to enhance the reliability of clinical genetic testing in Australia.
- The Human Variome Project will promote these standards internationally to improve global clinical diagnostics.
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