title: 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, International Federation of Clinical Chemistry and Laboratory Medicine.
abstract: 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.
authors.affiliation: Department of Medical Biology, Faculty of Medicine, Université Laval and CHUQ, Québec, Canada. francois.rousseau@mac.com
authors.forename: François
authors.initials: F
authors.lastname: Rousseau
authors.forename: David
authors.initials: D
authors.lastname: Gancberg
authors.forename: Heinz
authors.initials: H
authors.lastname: Schimmel
authors.forename: Michael
authors.initials: M
authors.lastname: Neumaier
authors.forename: Alexandre
authors.initials: A
authors.lastname: Bureau
authors.forename: Cyril
authors.initials: C
authors.lastname: Mamotte
authors.forename: Ron
authors.initials: R
authors.lastname: van Schaik
authors.forename: Deborah
authors.initials: D
authors.lastname: Payne
authors.forename: Mario
authors.initials: M
authors.lastname: Pazzagli
authors.forename: Ian
authors.initials: I
authors.lastname: Young
mesh_terms: D026683:Advisory Committees; D002624:Chemistry, Clinical / Q000379:methods / Q000592:standards*; D019411:Clinical Laboratory Techniques / Q000592:standards*; D006238:Haploidy; D006801:Humans; D007391:International Cooperation; D025202:Molecular Diagnostic Techniques / Q000379:methods / Q000592:standards*; D012015:Reference Standards; D017422:Sequence Analysis, DNA / Q000379:methods* / Q000592:standards*