ERNDIM-QAP Phase II: Development of an european quality assurance program of analytical methods used in the detection of an monotoring of treatment of inherited disorders of metabolism

• Forschungsstelle: EU FRP
• Projektnummer: 97.0405-1
• Projekttitel Englisch: ERNDIM-QAP Phase II: Development of an european quality assurance program of analytical methods used in the detection of an monotoring of treatment of inherited disorders of metabolism

Schlüsselwörter (Englisch)

Directory - special analyses - inborn errors of metabolism - diagnosis - follow-up
physiological fluids - tissues

Alternative Projektnummern (Englisch)

EU project number: BMH4CT983404

Forschungsprogramme (Englisch)

EU-programme: 4. Frame Research Programme - 4.2 Agriculture and agroindustry

Kurzbeschreibung (Englisch)

See abstract

Weitere Hinweise und Angaben (Englisch)

Full name of research-institution/enterprise:
Centre hospitalier universitaire vaudois CHUV
Laboratoire Central de Chimie Clinique

Partner und Internationale Organisationen (Englisch)

Coordinator: DWI (B)

Abstract (Englisch)

Quality control (QC) of quantitative or qualitative interpreted results of assays of special metabolites, proteins and genes for diagnosis and monitoring of rare inherited disorders of metabolism must be performed at the international level due to the small number of Laboratories in any single country. Major strides have been made in the establishment of QC schemes at the European level through the activities of ERNDIM, initiated and expanded with the support of a Biomed I grant (1994, BMHI-CT94-1074). We led subproject 3 on documentation and established a data base of 99 European laboratories (out of 201 from 30 countries) which is actually been fused with an older British directory and put on the web-site of the SSIEM (Society for the Study of Inborn Errors of Metabolism). Recommendations of the steering committee of the Program with respect to subproject 3 are: The participation of individual Laboratories in QC schemes should be indicated.
It should be clearly stated as a qualification of the listed information that we cannot reveal any Laboratories which may have a poor reputation, due to needs for local collaboration. National accreditors/certifiers should be made aware of participation in existing QC schemes in assessing all Laboratories.
Information included in the directory should be passed to accrediting authorities and they should be made aware of which tests are covered by our QC-schemes. A future aim is that only Laboratories accredited by European norms should be included in the directory.
General conclusions and recommendations of interest are : A list of European IEM Laboratories has been assembled to attempt to ascertain why some Laboratories do not participate in ERNDIM QC schemes.
It is clear that the list is not complete, in part because many University Laboratories do not feel that they belong to the routine diagnostic community with its accepted QC component.
Assumed reasons for lack of participation in both the directory and QC schemes are
1. Primarily research activity of the Laboratory; 2. Reluctance of laboratories to list themselves on a European level although not at the national level; 3. Some Laboratories performing relevant measurements are outside the IEM context, e.g. more concerned with risk factors, such as homocysteine; 4. The range of activities of some Laboratories does not fit in with content of schemes; 5. Inertia or lack of motivation.
Recommendations (of interest for SAS, BSV (QUALAB), BAG) :
Governments should recognize and clarify the distinction between the different roles of research Laboratories which perform diagnosis versus routine service Laboratories.
National accreditation schemes should insist on participation in QC schemes which meet the criteria for IEM's (i.e. ERNDIM schemes which are the only ones with sufficiently large numbers).
Additional schemes for QC in IEMs at the metabolite, protein and DNA level should be established. Existing and future schemes should be more attuned to the needs of Laboratories performing a small spectrum of tests and be more adaptable in offering a reduced spectrum of analytes.
There should be an European wide scheme for QA (Quality assessment) for newborn screening with clear distinction between screening and diagnostic Laboratories.
It is evident that during the time of the Biomed 2 grant there have been significant developments or changes in the nature of screening possibilities with respect to sample matrix, range of diseases and methodology in some member countries.
It is therefore recommended that the criteria for whole population screening be critically re-evaluated in the light of original recommendations (WHO Technical Report Series #401, Publ Hlth Papers #34) ) and in response to new technological developments.

Datenbankreferenzen (Englisch)

Swiss Database: Euro-DB of the
State Secretariat for Education and Research
Hallwylstrasse 4
CH-3003 Berne, Switzerland
Tel. [phone]
Swiss Project-Number: 97.0405-1