Analytical performance evaluation of the new GEM® Premier™ 5000 analyzer in comparison to the GEM® Premier™ 4000 and the RapidPoint® 405 systems

Abstract Aim of the study Blood gas analysis (BGA) is essential for the diagnosis and management of acid-base imbalances. We evaluated and compared the analytical characteristics of the new GEM® Premier™ 5000 (GP5000) (Instrumentation Laboratory, Bedford, MA, United States) BGA point-of-care (POC) device with those of the GEM® Premier™ 4000 (GP4000) (Instrumentation Laboratory, Bedford, MA, United States) and RapidPoint® 405 (RP405) (Siemens Healthcare, Milan, Italy) POC analyzers. The effect of sample mixing on patient results was also studied. Material and methods Quantitative measurement of pH, pCO2, pO2, Na+, K+, Cl−, iCa2+, glucose, lactate, tHb, COHb, MetHb, O2Hb, HHb and Hct were carried out. The imprecision study (IS) and method comparison study (MS) were performed according to CLSI EP guidelines, using respectively internal as well as external quality controls (IS) and whole blood samples collected from the routine analysis (MS). Results GP5000 demonstrated satisfactory characteristics in the IS showing comparable (GM4000) or even better (RP405) imprecision results than the routine POC devices. Good performance was observed in the MS both using GP4000 and RP405 as reference instruments. Pre-analytical sample management can heavily affect the accuracy of BGA results. In the specimen mixing evaluation, a significant improvement in results accuracy was observed when mixing procedures were more meticulous. Conclusions Considering the overall analytical performance observed, the ease of use of the system, the rapid time-to-results and the innovative Intelligent Quality Management technology (iQM2®), GP5000 seems suitable to be used in clinical care for safe patient management. Additionally, effective sample mixing upon draw and before analysis is strongly advisable in order to ensure the most clinically reliable BGA results

Ensuring sample quality for biomarker discovery studies - Use of ict tools to trace biosample life-cycle

The growing demand of personalized medicine marked the transition from an empirical medicine to a molecular one, aimed at predicting safer and more effective medical treatment for every patient, while minimizing adverse effects. This passage has emphasized the importance of biomarker discovery studies, and has led sample availability to assume a crucial role in biomedical research. Accordingly, a great interest in Biological Bank science has grown concomitantly. In biobanks, biological material and its accompanying data are collected, handled and stored in accordance with standard operating procedures (SOPs) and existing legislation. Sample quality is ensured by adherence to SOPs and sample whole life-cycle can be recorded by innovative tracking systems employing information technology (IT) tools for monitoring storage conditions and characterization of vast amount of data. All the above will ensure proper sample exchangeability among research facilities and will represent the starting point of all future personalized medicine-based clinical trials

DNA fingerprinting for sample authentication in biobanking: recent perspectives

The availability of biological samples has assumed a crucial role in the field of biomedical research in order to assess predisposition to complex diseases, identification and validation of new diagnostic biomarkers, drug targets, and improvement of monitoring strategies. To ensure correct collection, storage, and use of biological material, a biobank requires standard operating procedures, not only to guarantee the integrity of the sample, but also for the traceability and uniqueness of the same sample and to avoid potential contamination. Over the past three decades, researchers have increasingly used DNA polymorphisms for biological identification purposes, radically changing forensic investigations. This revolution has led to the birth of new scientific terms, such as “DNA fingerprinting” or “genetic profiling”, and a new field of legal medicine known as “forensic genetics”. Given the significant need for a biobank to devise a system of identification, authentication, and traceability of biological samples, many researchers are applying forensic genetics-based methodologies to the science of biobanking. This review recapitulates the main DNA polymorphisms presently known and the techniques most widely used for biological identification purposes, from standard methods based on short tandem repeats, to use of single nucleotide polymorphisms, through to the more recent insertion/deletion polymorphisms. The experience of several research groups who have applied classical or innovative methods for identification of biological samples in the context of a biorepository is also discussed. Finally, some technical issues are suggested that could facilitate decisions about the most appropriate markers and DNA fingerprint methodology for evaluation of identity and traceability in each disease-based biobank

An AT-rich region in the APC gene may cause misinterpretation of familial adenomatous polyposis molecular screening

Familial adenomatous polyposis (FAP) is an autosomal-dominant condition mainly due to a mutation of the adenomatous polyposis coli (APC) gene. The present study reports evidence of a technical issue occurring during the mutational analysis of APC exon 4. Genetic conventional direct sequence analysis of a repetitive AT-rich region in the splice acceptor site of APC intron 3 could be misinterpreted as a pathogenetic frameshift result. However, this potential bias may be bypassed adopting a method for random mutagenesis of DNA based on the use of a triphosphate nucleoside analogues mixture. Using this method as a second-level analysis, we also demonstrated the nonpathogenic nature of the variant in the poly A trait in APC exon 4 region (c.423-4delA) that do not result in aberrant splicing of APC exons 3-4; conversely, we did not find a previously reported T deletion/insertion polymorphism

RFID as a new ICT tool to monitor specimen life cycle and quality control in a biobank

Background: Biospecimen quality is crucial for clinical and translational research and its loss is one of the main obstacles to experimental activities. Beside the quality of samples, preanalytical variations render the results derived from specimens of different biobanks or even within the same biobank incomparable. Specimens collected along the years should be managed with a heterogeneous life cycle. Hence, we propose to collect detailed data concerning the whole life cycle of stored samples employing radio-frequency identification (RFID) technology. Methods: We describe the processing chain of blood biosamples that is operative at the biobank of IRCSS San Raffaele, Rome, Italy (BioBIM). We focus on the problem of tracing the stages following automated preanalytical processing: we collected the time stamps of all events that could affect the biological quality of the specimens by means of RFID tags and readers. Results: We developed a pilot study on a fragment of the life cycle, namely the storage between the end of the preanalytics and the beginning of the analytics, which is usually not traced by automated tools because it typically includes manual handling. By adopting RFID devices we identified the possible critical time delays. At 1, 3 and 6 months RFID-tagged specimens cryopreserved at -80 degrees C were successfully read. Conclusions: We were able to record detailed information about the storage phases and a fully documented specimen life cycle. This will allow us to promote and tune up the best practices in biobanking because i) it will be possible to classify sample features with a sharper resolution, which allows future utilization of stored material; ii) cost-effective policies can be adopted in processing, storing and selecting specimens; iii) after using each aliquot, we can study the life cycle of the specimen with a possible feedback on the procedures