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

Francois Rousseau, David Gancberg, Heinz Schimmel, Michael Neumaier, Alexandre Bureau, Cyril Mamotte, Ron Van Schaik, Deborah Payne, Mario Pazzagli, Ian Young

Research output: Contribution to journalComment/debate


Following the completion of sequencing of the human genome, there has been a very rapid increase in the development of new molecular diagnostic tests. However, the numerous genetic tests and genetic testing technologies offered 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 be tested for a particular genetic defect only once in their lifetime. Thus, there is a pressing need for comprehensive guidelines for the validation of molecular diagnostic tests and procedures, including DNA sequencing, the latter being a fundamental aspect of the development and validation of most genetic tests. To that end, the International Federation of Clinical Chemistry and Laboratory Medicine (IFCC) Committee for Molecular Diagnostics has prepared the following paper that 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 with a known level of confidence, including robustness and assessments of quality.

Original languageEnglish (US)
Pages (from-to)1343-1350
Number of pages8
JournalClinical Chemistry and Laboratory Medicine
Issue number11
Publication statusPublished - Dec 1 2009
Externally publishedYes



  • DNA sequencing
  • Nucleic acids
  • Position paper
  • Reference method

ASJC Scopus subject areas

  • Clinical Biochemistry
  • Biochemistry, medical

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