Pre-examination factors affecting molecular diagnostic test results and interpretation: A case-based approach.
BACKGROUND
Multiple organizations produce guidance documents that provide opportunities to harmonize quality practices for diagnostic testing. The International Organization for Standardization ISO 15189 standard addresses requirements for quality in management and technical aspects of the clinical laboratory. One technical aspect addresses the complexities of the pre-examination phase prior to diagnostic testing.


METHODS
The Committee for Molecular Diagnostics of the International Federation for Clinical Chemistry and Laboratory Medicine (also known as, IFCC C-MD) conducted a survey of international molecular laboratories and determined ISO 15189 to be the most referenced guidance document. In this review, the IFCC C-MD provides case-based examples illustrating the value of select pre-examination processes as these processes relate to molecular diagnostic testing. Case-based examples in infectious disease, oncology, inherited disease and pharmacogenomics address the utility of: 1) providing information to patients and users, 2) designing requisition forms, 3) obtaining informed consent and 4) maintaining sample integrity prior to testing.


CONCLUSIONS
The pre-examination phase requires extensive and consistent communication between the laboratory, the healthcare provider and the end user. The clinical vignettes presented in this paper illustrate the value of applying select ISO 15189 recommendations for general laboratory to the more specialized area of Molecular Diagnostics.
Molecular Services, APP-UniPath LLC, American Pathology Partners-UniPath, 6116 East Warren Ave., Denver, CO, USA. Electronic address: dpayne@AP2.com.
Deborah A
DA
Payne
Comenius University in Bratislava, Jessenius Faculty of Medicine in Martin, Biomedical Center Martin, Division of Oncology, Mala Hora 4C, 036 01 Martin, Slovakia; Comenius University in Bratislava, Jessenius Faculty of Medicine in Martin, Department of Molecular Biology, Mala Hora 4C, 036 01 Martin, Slovakia.
Katarina
K
Baluchova
AP-HP Hôpital Beaujon, Service de Biochimie clinique, Clichy F-92118, France; Université Paris Diderot, UFR de Médecine site Bichat, INSERM UMRs-1149, Paris, France.
Katell H
KH
Peoc'h
Department Clinical Chemistry, Erasmus University Medical Center, Rotterdam, The Netherlands.
Ron H N
RHN
van Schaik
Department of Chemical Pathology, Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong.
K C Allen
KCA
Chan
Department of Laboratory Medicine, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Masato
M
Maekawa
School of Biomedical Sciences and CHIRI Biosciences, Curtin University, Perth, Australia.
Cyril
C
Mamotte
Molecular Biology and Biotechnology Department, Instituto de Investigaciones en Ciencias de la Salud, Universidad Nacional de Asunción, Paraguay.
Graciela
G
Russomando
Department of Medical Biology, Direction médicale des services hospitaliers, CHU de Québec - Université Laval, Québec City, Canada; Department of Molecular Biology, Medical Biochemistry and Pathology, Faculty of Medicine, Université Laval, Québec City, Canada.
François
F
Rousseau
Institute for Medical Laboratory Diagnostics, Centre for Clinical and Translational Research (CCTR), HELIOS Hospital, Heusnerstraße 40, 42283 Wuppertal, Witten/Herdecke University, Germany.
Parviz
P
Ahmad-Nejad
D003627:Data Interpretation, Statistical; D006801:Humans; D007258:Informed Consent; D025202:Molecular Diagnostic Techniques / Q000379:methods* / Q000592:standards; D012015:Reference Standards; D013048:Specimen Handling
Good laboratory practice; ISO 15189; Infectious diseases; Informed consent; Inherited diseases; Molecular diagnostics; Molecular pathology; Molecular requisition; Oncology; Pharmacogenomics; Pre-analytic; Pre-examination; Specimen integrity; Standardization