Report of an international survey of molecular genetic testing laboratories.
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.


CONCLUSIONS
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.
McGovern
Margaret M
MM
Departments of Human Genetics and Pediatrics, Mount Sinai School of Medicine, New York, NY 10029, USA. margaret.mcgovern@mssm.edu
Elles
Rob
R
Beretta
Isabella
I
Somerville
Martin J
MJ
Hoefler
Gerald
G
Keinanen
Mauri
M
Barton
David
D
Carson
Nancy
N
Dequeker
Elisabeth
E
Brdicka
Radim
R
Blazkova
Alena
A
Aymé
Ségolène
S
Schnieders
Birgit
B
Muller
Clemens R
CR
Dalen
Vibeke
V
Martinez
Armando Albert
AA
Kristoffersson
Ulf
U
Ozguc
Meral
M
Mueller
Hansjakob
H
Boone
Joe
J
Lubin
Ira M
IM
Sequeiros
Jorge
J
Taruscio
Domenica
D
Williamson
Bob
B
Mainland
Lynn
L
Yoshikura
Hiroshi
H
Ronchi
Elettra
E
D003219:Confidentiality; D003625:Data Collection / Q000379:methods; D004581:Electronics; D006801:Humans; D007258:Informed Consent; D007391:International Cooperation; D017056:Medical Laboratory Personnel / Q000592:standards; D008967:Molecular Biology / Q000379:methods* / Q000592:standards; D011786:Quality Control; D011795:Surveys and Questionnaires