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The most widespread healthcare reimbursement models, including diagnostic laboratory services, are Fee-for-Service, Reference Pricing and Diagnosis-Related Groups. Within these models healthcare providers are remunerated for each specific service or procedure they operate. Healthcare payers are increasingly exploring alternative models, such as bundled payments or value-based reimbursement to encourage value of patient care rather than the simple amount of delivered services. These alternative models are advised, as they are more efficient in promoting cost-effective, high-quality laboratory testing, thereby improving patient health outcomes. If outcomes-based evaluation is a pillar in a new vision of "Value-Based Healthcare", an active policy of Value-Based Reimbursement in laboratory medicine will assure both an efficiency-based sustainability and a high-quality effectiveness-based diagnostic activity. This review aims to evaluate current and alternative reimbursement models, to support a wider agenda in encouraging more Value-Based Healthcare and Value-Based Reimbursement in laboratory medicine. [ABSTRACT FROM AUTHOR]

Elevated plasma concentration of cholesterol bound to LDL (LDL-C) is the predominant risk factor for cardiovascular (CV) diseases. An important number of clinical trials demonstrated that the use of statins to reduce LDL-C is beneficial in terms of prevention of CV events in the entire population. Over time, specific LDL-C targets to be achieved have been established to guarantee the best outcome for the patient from the therapeutic intervention. The fundamental role of the clinical laboratory in diagnosis and treatment monitoring of dyslipidemias, requires that harmonization in the different phases of the laboratory process be pursued and achieved in order to allow the correct management of patients. The harmonization process has been the subject of national and international recommendations over time; however, a further recommendation is essential, considering that some recent evidences testify to a sub-optimal adoption of the indications by a non-negligible number of laboratories, confirming the need to repeat training and information activities. Aim of this joint document is to analyze the importance of the therapeutic targets to be achieved and the critical elements of laboratory diagnostic related to dyslipidemia, in order to provide indications for the harmonization of the reporting of the lipid profile. According to these recommendations, the lipid parameters should be reported accompanied by the therapeutic goals differentiated by the risk categories for LDL-C and non-HDL-C and by the threshold values for the other parameters. The use of comparison terms like Reference values or Normal values in the laboratory report must be definitely abandoned. [ABSTRACT FROM AUTHOR]

Background: Upon infection activated plasma cells produce large quantities of antibodies which can lead to the emergence of a monoclonal component (MC), detectable by serum protein electrophoresis (SPEP). This study aims to investigate any correlation between SARS‐CoV‐2 infection and MC development and, if identified, whether it persists during follow‐up. Methods: SPEPs of 786 patients admitted to hospitals between March 01 2020 and March 31 2022 were evaluated. Positive (SARS‐CoV‐2+) and negative (SARS‐CoV‐2−) patients to nasopharyngeal swab for SARS‐CoV‐2 by RT‐PCR were included. The persistence/new occurrence of MC was investigated for all patients during follow‐up. Patient groups were compared by chi‐square analysis. Results: MC was identified in 12% of all patients admitted to hospital, of which 28.7% were SARS‐CoV‐2+. The most common immunoglobulin isotype in both groups was IgG‐k. There was no correlation between MC development and SARS‐CoV‐2 infection (p = 0.173). Furthermore, the risk of MC persistence in SARS‐CoV‐2‐negative patients was revealed to be higher than in the SARS‐CoV‐2+ at follow‐up (HR = 0.591, p = 0.05). Conclusions: Our study suggests that the detection of MC during SARS‐CoV‐2 infection is most likely due to the hyperstimulation of the humoral immune system, as also occurs in other viral infections. [ABSTRACT FROM AUTHOR]

This document explores the characteristics and clinical implications of rare non-A/B/D nucleophosmin (NPM1) gene mutations in acute myeloid leukemia (AML) patients. NPM1 gene mutations are common in AML, but there are numerous variations. The document reviews various studies on the prognostic impact of these rare mutations, which have yielded conflicting results. The authors conducted their own study and found that patients with rare non-A/B/D NPM1 mutations were younger at diagnosis and had lower white blood cell counts compared to those with A/B/D mutations. They also observed a higher frequency of FLT3-TKD mutations in patients with rare NPM1 mutations. The study emphasizes the need for larger multicenter studies to further understand the genetic characteristics and prognostic implications of non-A/B/D NPM1-mutated AML. [Extracted from the article]

In recent years, the increasing digitalization of health technologies and systems for collecting and storing health data has allowed for the creation of value from data and its use. However, this has led to the need to implement risk management regarding the protection and loss of health data. Observational studies, by nature, do not pose direct additional risks to the health of patients. However, the privacy of patients' needs to be preserved. This document, by presenting the obligations introduced by the current Regulation and delving into its impacts on governance, security, and management of health data, aims to provide technical-organizational measures to support the use of health data for research purposes in retrospective observational studies, particularly in laboratory medicine. It should be noted that this document is merely illustrative with reference to the cases analyzed and does not intend in any way to eliminate the evaluations of the Data Protection Officer (DPO) of the involved structures, as well as the necessary and timely risk assessment reserved for the Data Controller (DC). The document therefore aims to support the researcher in the task of providing the DPO and the DC with all the preliminary information regarding the study, in order to simplify and speed up the evaluation process. Accordingly, the document has been structured so that the researcher can benefit not only from information on the current legislation but also from informal tools such as dialogue windows with the lawyer and the analysis of real-world case studies. [ABSTRACT FROM AUTHOR]

Objective Despite having normal thyroid-stimulating hormone levels, many hypothyroid patients are dissatisfied with the treatment. The primary aim of this study was to evaluate the effect of twice-daily, combination therapy with levothyroxine (LT4) and liothyronine (LT3), at doses adapted according to TSH-level, on peripheral tissues as reflected by sex hormone binding globulin (SHBG) levels in totally thyroidectomized patients. Changes in other tissue markers and quality of life considering DIO2 -rs225014 and MCT10 -rs17606253 genetic variants were also assessed. Design Double-blind, randomized, placebo-controlled. Methods One hundred and forty-one subjects were randomized to LT4 + LT3 group (LT4 + LT3 in the morning and LT3 in the evening; n = 70) or placebo group (LT4 in the morning and placebo in the evening; n = 71). Pituitary-thyroid axis compensation was assessed after 6, 12, and 24 weeks. Clinical parameters, quality of life, and tissue markers (sex hormone binding globulin, serum lipids, bone markers) were evaluated at 12 and 24 weeks. DIO2 and MCT10 single nucleotide polymorphisms were genotyped. Results The LT4 + LT3 group was treated with mean daily LT3 doses of 5.00 µg, with a mean daily LT4 reduction of 15 µg. After 6 months of treatment, neither SHBG and other tissue markers nor quality of life differed significantly between groups. Combination treatment required greater dose adjustments than placebo (25% vs 54%, P <.001), due to thyroid-stimulating hormone reduction, without hyperthyroidism signs or symptoms. At the end of treatment, the LT4 + placebo group had significantly lower fT3/fT4 compared to the LT4 + LT3 group (0.26 ± 0.05 vs 0.32 ± 0.08, P <.001). No preference for combination therapy was found. Genetic variants did not influence any outcomes. Conclusions Six months of combination therapy with twice-daily LT3 dose adapted according to TSH-level do not significantly change peripheral tissue response or quality of life, despite an increase in the fT3/fT4 ratio. [ABSTRACT FROM AUTHOR]

The improved sensitivity of Next Generation Sequencing (NGS), in comparison to Sanger sequencing, results in increased identification of unusual findings. Typically, heterozygous germline variants are expected to be detected with NGS at a 50% read-frequency. However, NGS may identify clinically relevant variants at significantly different frequencies. Those in the 5.0-30% range are generally filtered out as low-quality data. Nevertheless, low-frequency variants could be truly present in DNA samples from peripheral blood, due to clonal hematopoiesis of indeterminate potential (CHIP) or constitutional mosaicism, where the variant is only present in a fraction of cells, as the result of a post-zygotic mutation during embryonic development. So, hereditary cancer analysis needs to be improved. Clinically relevant variants that result less than 30% in reads frequency, should be evaluated. Initially, sequencing artifacts and chimerism due to bone marrow transplantation should be excluded. Then, analyses on secondary normal tissues should be performed. If clinically relevant variants with low frequency are not confirmed except for blood, these mutations should be considered as CHIP events. Otherwise, if the analyses in non-transformed samples yield positive results, they would suggest the patients' constitutional mosaicisms. Testing parents and offspring could provide definitive proof that the low-frequency variants are germline heritable mosaicisms. These results would have a profound impact on mosaic patients' surveillance, prophylactic surgery, treatment options, and their family members risk assessment. [ABSTRACT FROM AUTHOR]

Introduction: monoclonal antibodies therapeutic (t-mAbs) are used in the treatment of multiple myeloma (MM). They are composed of IgG-k and may interfere with the patient's endogenous IgG-k monoclonal component (MC). The Hydrashift test (Sebia, Lisses, FR), the daratumumab immunofixation reflex test (DIRA test), is able to eliminate interference by t-mAbs. This work aims to determine how many DIRA tests were performed in the laboratory of the Department of Laboratory Medicine of Modena (Italy) and how the DIRA test has been used in our daily practice and its impact on the clinical management of the patient as well. Methods: the DIRA test was applied by the laboratory on patients selected on the basis of: their clinical history, of monoclonal components, comparison with previous electrophoresis, the characteristic pattern of the gamma zone, and evidence of an additional peak in the gamma zone. The data were extracted from the laboratory information system. Results: from August 2021 to December 2022 we performed the DIRA test on 240 samples for a total of 160 patients. 198 (82.5%) samples came from onco-haematological wards or day hospitals, the remaining 17.5% included samples from external sampling centers or non-onco-haematological. In 88 (55%) patients the DIRA test was positive. Conclusions: the use of the DIRA test allowed a correct diagnosis in 55% of the patients undergoing electrophoretic examination. DIRA is an inexpensive test, easily performed in any laboratory; however, an effective use of the test requires a close collaboration between haematologists and the laboratory. [ABSTRACT FROM AUTHOR]