In August 2022, we have identified the following access and policy-relevant scientific publications that caught our attention from the (digital) diagnostics perspective. Check them out:
Clinical value:
The study retrospectively collected the records of stage IV NSCLC patients with wild-type EGFR tested by Cobas test. FoundationOne CDx was used for comprehensive genomic profiles. The authors evaluated the missed EGFR mutations by the Cobas test. Of the 62 samples, 7 (11.3%) were detected with EGFR mutations by NGS. Among these overlooked EGFR mutations, five were exon 20 insertions, and two were exon 19 deletions. Using NGS as the standard, the false-negative rate of the cobas EGFR mutation test was 11.3%-in a population with a high prevalence of EGFR mutations. The most overlooked mutations were exon 20 insertions. A comprehensive EGFR mutation assay can provide significant benefits to patients with NSCLC.
2. Non-small-cell lung cancer: how to manage EGFR-mutated disease
The authors provide an updated and comprehensive summary of the latest advancements in the quest for compounds targeting EGFR-mutant advanced non-small-cell lung cancer, discussing the biological rationale underlying the development of a forefront combination of TKI and/or new antibody-drug conjugates. They also suggest a treatment algorithm that could be followed considering the latest published data.
The study tested the effect of One Drop's digital health program on workplace productivity outcomes, absenteeism, and presenteeism, for employees and specifically for older workers with type 2 diabetes. Treatment and control group comparisons showed that workers ( N = 125) using One Drop see direct benefits to workplace productivity, which leads to productivity savings for employers. This was the first RCT to demonstrate that a mobile health application for managing type 2 diabetes can positively affect productivity at work.
4. Does diagnostic testing always decrease antibiotics prescriptions?
This paper presents a theoretical economic model to analyse whether the use of POCT always decreases antibiotics prescriptions.
Cost-effectiveness, HTA, pricing:
The study evaluated the diagnostic value and cost-effectiveness of next-generation sequencing (NGS)-based testing versus various combinations of single-gene tests (SGTs) for selection of first-line treatment for patients with advanced/metastatic non-squamous non-small-cell lung cancer in the United States. NGS improved the detection of actionable biomarkers by 74.4%, and increased the proportion of patients receiving biomarker-driven therapy by 11.9%. NGS testing may provide a cost-effective strategy for advanced/metastatic non-squamous non-small-cell lung cancer; however, the value of NGS-directed therapy varies by the willingness-to-pay threshold of the decision-maker.
The study aims to evaluate the costs and outcomes of targeted gene panels compared to exome sequencing for prenatally-diagnosed non-immune hydrops fetalis NIHF and fetal effusions. Next generation sequencing was cost-effective compared to a strategy without genetic testing. For those that undergo next generation sequencing, exome sequencing was the cost-effective strategy, leading to lower costs and fewer adverse perinatal outcomes compared to all other testing strategies using targeted gene panels.
The study aims to determine whether the additional implementation of a multifunctional telemedicine examination device resulted in fewer physical consultations, reduced service utilization, and lower health care expenditures among telemedicine-insured clients. The analysis is based on claims data from 135,636 clients insured in a telemedicine call center model covering the years 2019 and 2020. The treatment of telemedicine-insured clients was on average more cost-effective when they received the multifunctional telemedicine device.
Healthcare systems, utilization, initiatives, guidelines:
PRECISION is an initiative from the Belgian Society of Medical Oncology (BSMO) in collaboration with several stakeholders, encompassing four programs that aim to boost genomic and clinical knowledge with the ultimate goal to offer patients with metastatic solid tumors molecularly guided treatments. The PRECISION 1 study has led to the creation of a clinico-genomic database. The PRECISION 2 project consists of investigator-initiated phase II studies aiming to provide access to a targeted drug for patients whose tumors harbor actionable mutations in case the matched drug is not available through reimbursement or clinical trials in Belgium.
9. Implementation of a new Digi-HTA process for digital health technologies in Finland
There has been a lack of health technology assessment (HTA) methods for novel digital health technologies (DHTs) such as mHealth, artificial intelligence, and robotics in Finland. The Digi-HTA method has been developed for this purpose (Digi-HTA is digital assessment framework created by the University of Oulu, in collaboration with the Finnish Coordinating Center for Health Technology Assessment (FinCCHTA). The aim of this study is to determine whether it would be possible to use Digi-HTA recommendations to support healthcare decision-makers.
10. Practice guidelines for BRCA1/2 tumour testing in ovarian cancer
This document, developed by the Canadian College of Medical Geneticists (CCMG) and the Canadian Association of Pathologists, aims to provide pre-analytical, analytical, and post-analytical considerations and recommendations to Canadian clinical laboratories developing, validating, and offering next-generation sequencing (NGS)-based BRCA1 and BRCA2 (BRCA1/2) tumor testing in ovarian cancers.
This study aims to evaluate the acceptability, implementation, and usability of an Australian-specific cardiac guidelines mobile app. Health professionals supported the development of the Smart Heart Guidelines app. Although initial downloads were promising, the frequency of using the app was low and deletion rates were high. Further evaluation of users' experience of the most and least useful components of the app is needed.