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Access relevant diagnostics scientific publications – 2022 May

Healthcare systems, utilization, coverage, reimbursement

1.       Towards a national strategy for digital pathology in Switzerland

The Swiss Digital Pathology Consortium (SDiPath) discusses the creation of a Swiss Digital Pathology Infrastructure (SDPI), which aims to develop a unified national DP network bringing together the Swiss Personalized Health Network (SPHN) with Swiss university hospitals and subsequent inclusion of cantonal and private institutions.

2.       Uptake and impact of the English National Health Service digital diabetes prevention programme: observational study

‘Healthier You’, the National Health Service (NHS) diabetes prevention programme (DPP) offers adults in England at high risk of type 2 diabetes (T2DM) an evidence-based behavioral intervention to prevent or delay T2DM onset. This study assesses the impact of a pilot digital stream of the DPP (DDPP) on glycated hemoglobin (HbA1c) and weight.

3.       Improving public cancer care by implementing precision medicine in Norway: IMPRESS-Norway

Patients with actionable genomic alterations in their tumor may have the possibility to try precision cancer drugs through IMPRESS-Norway. In this study, the authors evaluate clinical benefit of approved drugs outside current indication based on extended molecular testing of cancers available through the public health care system in Norway.

 

Clinical value

4.       Prostate health index (PHI) as a reliable biomarker for prostate cancer: a systematic review and meta-analysis

Prostate cancer (PCa) represents the second most common solid cancer in men worldwide. In the last decades, the prostate health index (PHI) emerged as a reliable biomarker for detecting PCa and differentiating between non-aggressive and aggressive forms. However, before introducing it in clinical practice, more evidence is required. The authors performed a systematic review and meta-analysis for assessing the diagnostic performance of PHI for PCa and for detecting clinically significant PCa (csPCa).

5.       Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies

Noninvasive prenatal screening (NIPS) using cell-free DNA has been assimilated into prenatal care. Prior studies examined clinical validity and technical performance in high-risk populations. This systematic evidence review evaluates NIPS performance in a general-risk population.

6.       “Game Changer”: Health Professionals’ Views on the Clinical Utility of Circulating Tumor DNA Testing in Hereditary Cancer Syndrome Management

The authors explored health professionals’ views on the utility of circulating tumor DNA (ctDNA) testing in hereditary cancer syndrome (HCS) management.

7.       Recommendations for whole genome sequencing in diagnostics for rare diseases

The use of WGS in diagnostics warrants the re-evaluation and update of previously published guidelines. This work was jointly initiated by EuroGentest and the Horizon2020 project Solve-RD. Statements from the 2016 guidelines have been reviewed in the context of WGS and updated where necessary. The aim of these recommendations is primarily to list the points to consider for clinical (laboratory) geneticists, bioinformaticians, and (non-) geneticists, to provide technical advice, aid clinical decision-making and the reporting of the results.

 

Cost-effectiveness, HTA, real world data

8.       Cost-Effectiveness of PD-L1 Testing in Non-Small Cell Lung Cancer (NSCLC) Using In Vitro Diagnostic (IVD) Versus Laboratory-Developed Test (LDT)

Accurate PD-L1 testing for non-small cell lung cancer (NSCLC) maximizes the benefits of immune checkpoint inhibitor (ICI) drugs like pembrolizumab. False negative test results deny ICI treatments to eligible patients, worsening clinical and economic outcomes, while false positives increase costs by using ICI treatments without their benefits. This study evaluates the cost-effectiveness of PD-L1 testing with an in vitro diagnostic (IVD) compared to a laboratory-developed test (LDT) for allocating patients with NSCLC to treatment with either pembrolizumab or chemotherapy using the German healthcare system as a model.

9.       The novelties of the regulation on health technology assessment, a key achievement for the European union health policies

Health technology assessment is a key tool for ensuring healthcare quality, accessibility, and sustainability. The novel European Union (EU) Health Technology Assessment (HTA) regulation of 15 December 2021, in harmonizing the laws of the Member States about the procedures and criteria for the evaluation of health technologies (i.e., medical devices and in vitro diagnostic tools), constitutes a significant achievement in the definition of EU health policies. The novel HTA European regulation, applicable from January 2025, will ensure inclusion and transparency in evaluating health technologies and increase the predictability of decisions for both Member State authorities and industry.

10.   Medical costs of children admitted to the neonatal intensive care unit: The role and possible economic impact of WES in early diagnosis

The objective of this study is to provide an overview of average healthcare costs for patients admitted to the Neonatal Intensive Care Unit and to assess possible impact of implementing Whole Exome Sequencing (WES) on these total healthcare costs.

11.   Cost-effectiveness analysis of molecular diagnosis by next-generation sequencing versus sequential single testing in metastatic non-small cell lung cancer patients from a south Spanish hospital perspective

This paper assesses the cost-effectiveness of using next-generation sequencing (NGS) compared to sequential single-testing (SST) for molecular diagnostic and treatment of patients with advanced non-small cell lung cancer (NSCLC) from a Spanish single-center perspective, the Hospital Universitario Virgen del Rocio (HUVR).