Original Paper

Report of an International Survey of Molecular Genetic Testing Laboratories
Margaret M. McGovern^a, Rob Elles^c, Isabella Beretta^d, Martin J. Somerville^f, Gerald Hoeflerⁱ, Mauri Keinanen^j, David Barton^k, Nancy Carson^h, Elisabeth Dequeker^l, Radim Brdicka^v, Alena Blazkova^w, Ségolène Aymé^m, Birgit Schnieders^x, Clemens R. Müller^o, Vibeke Dalen^y, Armando Albert Martinez^p, Ulf Kristoffersson^q, Meral Ozguc^u, Hansjakob Mueller^e, Joe Boone^b, Ira M. Lubin^b, Jorge Sequeiros^r, Domenica Taruscio^s, Bob Williamson^z, Lynn Mainland^g, Hiroshi Yoshikura^t, Elettra Ronchi<sup>n

a</sup>Departments of Human Genetics and Pediatrics, Mount Sinai School of Medicine, New York, N.Y., and
^bLaboratory Practice Evaluations and Genomics Branch, Centers for Disease Control, Atlanta, Ga., USA;
^cNational Genetics Reference Laboratory, Manchester, UK;
^dFederal Office for Education and Science, Bern, and
^eDivision of Medical Genetics, UKBB, University of Basel, Basel, Switzerland;
^fDepartments of Medical Genetics and Pediatrics, University of Alberta, Edmonton,
^gHealth Canada and
^hGenetics Diagnostics Laboratory, Children's Hospital of Eastern Ontario, Ottawa, Canada;
ⁱDepartment of Pathology, Medical University of Graz, Graz, Austria;
^jLabquality, Helsinki, Finland;
^kNational Centre for Medical Genetics, Dublin, Ireland;
^lEuropean CF Network, Department of Human Genetics, University of Leuven, Leuven, Belgium;
^mOrphanet, Hospital Broussais and
ⁿOrganization for Economic Cooperation and Development, Paris, France;
^oDepartment of Human Genetics, University of Würzburg, Würzburg, Germany;
^pCentre for Scientific Information and Documentation, Madrid, Spain;
^qDepartment of Clinical Genetics, University Hospital, Lund, Sweden;
^rInstitute for Molecular and Cell Biology, University of Porto, Porto, Portugal;
^sNational Center for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy;
^tNational Institute of Infectious Diseases, Tokyo, Japan;
^uHacettepe University, Ankara, Turkey;
^vInstitute of Hematology and Blood Transfusion, U. Nemocnice 1, Prague, and
^wMinistry of Education, Youth and Sports, Department of International Cooperation in Research and Development, Prague, Czech Republic;
^xFederal Ministry of Health and Social Security, Bonn, Germany;
^yDirectorate for Health and Social Affairs, Division for Health Care and Social Services, Oslo, Norway; and
^zUniversity of Melbourne, Melbourne, Australia

Address of Corresponding Author

Community Genet 2007;10:123-131 (DOI: 10.1159/000101753)

  Key Words

• Molecular genetic testing
• Quality assurance
• Genetic tests, reporting
• Proficiency testing
• Genetics test regulation

  Abstract

Objective: To collect data on the practices of molecular genetic testing (MGT) laboratories for the development of national and international policies for quality assurance (QA). Methods: A web-based survey of MGT laboratory directors (n = 827; response rate 63%) in 18 countries on 3 continents. QA and reporting indices were developed and calculated for each responding laboratory. Results: Laboratory setting varied among and within countries, as did qualifications of the directors. Respondents in every country indicated that their laboratory receives specimens from outside their national borders (64%, n = 529). Pair-wise comparisons of the QA index revealed a significant association with the director having formal training in molecular genetics (p < 0.005), affiliation with a genetics unit (p = 0.003), accreditation of the laboratory (p < 0.005) and participation in proficiency testing (p < 0.005). Research labs had a lower mean report score compared to all other settings (p < 0.05) as did laboratories accessioning <150 samples per year. Conclusion: MGT is provided under widely varying conditions and regulatory frameworks. The data provided here may be a useful guide for policy action at both governmental and professional levels.

Copyright © 2007 S. Karger AG, Basel

  Author Contacts

Margaret M. McGovern
Professor of Human Genetics and Pediatrics
Mount Sinai School of Medicine, Box 1497
100th Street and Fifth Avenue, New York, NY 10029 (USA)
Tel. +1 212 241 9234, Fax +1 212 860 3316, E-Mail margaret.mcgovern@mssm.edu

  Article Information

Conflicts of interest: some of the authors are affiliated with MGT laboratories or with QA programs for such laboratories. The following authors are directors of MGT laboratories: M.M. McGovern, R. Elles, M. Somerville, G. Hoefler, M. Keinanen, D. Barton, E. Dequeker, R. Brdicka, S. Aymé, C.R. Müller, V. Dalen, U. Kristoffersson, H. Mueller, J. Sequeiros, D. Taruscio.

The corresponding author (M.M. McGovern) had full access to all the data from the study and was charged by the coauthors with final responsibility for the decision to submit it for publication.

Number of Print Pages : 9
Number of Figures : 0, Number of Tables : 4, Number of References : 15