Considerations for the Development of a Reference Method for Sequencing of Haploid DNA - An Opinion Paper on behalf of the IFCC Committee on Molecular Diagnostics

Following the completion of sequencing of the human genome, there has been a very rapid increase on the development of new molecular diagnostic tests. However, the numerous genetic tests and genetic testing technologies offered on the marked do not always satisfy essential quality criteria required to ensure confidence in the results that are produced. This is of particular importance for genetic tests since many patients may only be tested once in their lifetime for a particular genetic defect. There is this a pressing need for comprehensive guidelines for the validation of molecular diagnostic test and procedures, including DNA sequencing, the latter being a fundamental aspect of the development and validation of most genetic tests. To that ende the IFCC Committe for Molecular Diagnostics has prepared the following paper which describes a possible approach to the development of a reference method for sequencing of haploid DNA. We discuss various aspects which should be considered before, during and after applying the sequencing procedure in order to achieve results wiht a known level of confidence, including robustness and assessments of quality.

ROUSSEAU F.;  GANCBERG David;  SCHIMMEL Heinz;  NEUMAIER Michael;  BUREAU Alexandre;  MAMOTTE Cyril;  VAN SCHAIK Ron;  PAYNE Deborah;  PAZZAGLI Mario;  YOUNG Ian; 

2009-11-24

WALTER DE GRUYTER & CO

JRC53582

1434-6621,   

http://www.reference-global.com/doi/abs/10.1515/CCLM.2009.319,    https://publications.jrc.ec.europa.eu/repository/handle/JRC53582,   

10.1515/CCLM.2009.319,