Abstract Background This report investigates an unusual total testosterone result in a middle-aged female. Case presentation A 40-year-old female patient was found to have high serum total testosterone of 30.82 nmol/L on a Beckman Coulter UniCel® DxI800 automatic chemiluminescence immunoanalyzer without appropriate clinical appearance. Heterophile antibody interference was considered for elevated testosterone and investigated; reanalysis of the original serum sample and liquid chromatography with tandem mass spectrometry (LC-MS/MS) were performed. Reanalysis of the original serum sample using Roche® and Siemens® immunoassays both gave a normal total testosterone level. Beckman Coulter® also excluded the possibility of interference by heterophile antibodies. Finally, LC-MS/MS showed that the total testosterone level was in the normal range. Conclusions This report highlights the importance of ruling out the interfering factors for false high values of the analyte in laboratories.

Abstract Although laboratory tests are the most used diagnostic investigations for screening, diagnosing, prognosticating and therapeutic monitoring of most human diseases, laboratory medicine is currently seen as many other economic industries by some policymakers and administrators, and is hence subjected to scale economy and assessed accordingly, despite the incremental clinical value that laboratory tests can generate. According to a genuine economic perspective, the impact of diagnostic testing on a healthcare budget is lower than 2.5%, whilst its profitability is over 100%, a net profit margin over 7-fold larger than whatever other human industry. Even more importantly, the impact of laboratory tests on clinical outcomes is now clear and virtually incontestable, as their use will improve clinical pathways much more than any other diagnostic investigations. The many ongoing attempts to downsize the importance of laboratory medicine as costs centers, or even the concept that public laboratory services can be safely eliminated or outsourced to external private professional organizations, shall hence be challenged. Laboratory medicine not only is vital to patient care and patient flow, and will remain so for many years to come, but is also a valuable economical resource for the healthcare facilities.

Abstract BackgroundTerminologies facilitate data exchange and enable laboratories to assist in patient care even if complex treatment pathways involve multiple stakeholders. This paper examines the three common terminologiesNomenclature for Properties and Units(NPU),Logical Observation Identifiers Names and Codes(LOINC), andSNOMED Clinical Terms(SNOMED CT).MethodsThe potential of each terminology to encode five exemplary laboratory results is assessed. The terminologies are evaluated according to scope, correctness, formal representations, and ease of use.ResultsNPU is based on metrological concepts with strict rules regarding the coding of the measurand and the result value. Clinically equivalent results are regularly mapped to the same code but there is little support to differentiate results from non-standardized measurements. LOINC encodes analyses as offered by the laboratory. Its large number of entries allows different mappings for the same analysis. SNOMED CT contains few analyses natively, but its formal composition mechanism allows representing measurements by post-coordinated expressions that are equivalent to LOINC codes. SNOMED CT’s strength lies in its support of many non-numerical result values. Implicit code hierarchies exist in NPU and LOINC. SNOMED CT has explicit, elaborate axioms that elucidate the meaning of its content. Its complexity and its license conditions, however, impede a more widespread use. Interpretive comments, a crucial part of laboratory results, are still difficult to encode with any of the terminologies.ConclusionsAll three terminologies have distinct potentials and limitations, but the approximation of SNOMED CT and LOINC suggests using them together. Terminologies need to be expanded to also cover interpretive comments.

Abstract Background: Even though technology advances and laboratory tests have become commonplace, there is a multitude of sources for errors. Furthermore, as the new General Data Protection Regulation (GDPR) adds to the thicket of storage and deletion periods, strategies for the best approach have to be developed. Legal context and methods: On the one hand, this article discusses civil claims due to damages arising from false laboratory results. This is done by a de lege lata analysis of the central liability provisions in the respective fields. On the other hand, different storage periods and deletion obligations for data in clinical laboratory testing and the best way of handling them are analyzed. Results and conclusions: Depending on the cause of the error, there are several possible liable parties. The most advantageous claims for the patient are those against the manufacturer in case of a defective device as he is regularly strictly liable. But also other parties involved can face similar claims due to their own wrongdoing. Although there can be claims against multiple parties involved, a fair allocation of damages according to the areas of responsibility of every party can be achieved through recourse. Concerning storage and destruction obligations, first the applicable timeframes have to be identified. Compliance can then be achieved by the implementation of technical and organizational measures. In the event of data-protection misconduct, there is a risk of considerable fines.

Abstract With the implementation of the Austrian electronic health record (ELGA), laboratory results are formally standardized for the first time throughout Austria. The nomenclature of the lab analyses, their sequence and structure as well as the display of laboratory results are unified with ELGA. One of the most significant steps is using Logical Observation Identifiers Names and Codes (LOINC) as a reference terminology for lab analyses. Thereby laboratory results can be reused semantically interoperable all over Austria.

Abstract The implementation of next-generation sequencing (NGS) in a clinical diagnostic setting opens vast opportunities through the ability to sequence all genes contributing to a certain morbidity simultaneously at a cost and speed that is superior to traditional sequencing approaches. On the other hand, the practical implementation of NGS in a clinical diagnostic setting involves a variety of new challenges, which need to be overcome. Among these are the generation, analysis and storage of unprecedented amounts of data, strict control of sequencing performance, validation of results, interpretation of detected variants and reporting. In the following sections, key aspects of data management and integration will be discussed. In particular, issues of data storage, data analysis using in-house IT infrastructure vs. data analysis employing cloud computing and the need for data integration from different sources will be covered.

Abstract Background:We developed two web-based applications called the “Percentiler” and “Flagger”. They use electronically sent data from the analysis of patient samples (medians in the Percentiler; % flagging in the Flagger). Through a graphical user interface, the applications allow on-line monitoring of the stability of analytical performance and flagging rate, both assessed against quality specifications. These are guided by biological variation (Percentiler) and effect of analytical instability on surrogate medical decisions (Flagger). Here, we report on the use of the applications.Methods:We constructed examples with combined observations to investigate whether the Flagger adequately translates the effect of analytical instability observed in the Percentiler, and whether the changes in the flagging rate tolerated by the proposed stability limits is realistic in combination with the analytical performance goals.Results:In general, the examples show that the most prominent flagging rates correlate well with the analytical stability and that the limits proposed for the Flagger are realistically linked to those of the Percentiler. They also show that for certain analytes the specifications for stable flagging rates can be restricted to 20% (relatively to the laboratory’s long-term flagging median) despite ambitious analytical performance goals, while for others they need to be expanded up to 70% in concordance with decreasing biological variation.Conclusions:The examples confirm that the changes in flagging rate is well related to the analytical variation, and that the proposed stability limits are fit-for-purpose. The combined observations may help individual laboratories to define realistic but ambitious performance specifications that apply for their local situation.

Abstract Background Cardiac troponins are the recommended markers for the detection of acute myocardial infarction (AMI). There is a controversy regarding their decision limits. In this study, our objective was to reveal the cut-off values of high-sensitive troponin T (hsTnT) for AMI diagnosis in our population and to examine the effect of age and gender on hsTnT cut-off values. Methods Patients who presented to the emergency department (ED) with chest pain were selected, and only those patients admitted during the first 3–6 h of symptom onset were included in the study. Results A total of 484 men and 182 women were included. A total of 355 (279 men/76 women) patients were diagnosed with AMI. The cut-off values of hsTnT were found to be 17 ng/L and 16 ng/L, for males and females, respectively. The cut-off values of hsTnT were detected to be significantly higher in men over 40 years of age (24 ng/L) than in men less than 40 years of age (10 ng/L). Conclusions The cut-off value for the hsTnT test for AMI was slightly lower in females than in males. The cut-off levels of hsTnT for the diagnosis of AMI were found to be significantly higher in men over 40 years of age than in men less than 40 years of age.