Healthcare systems, utilization, coverage, reimbursement
1. Clinician attitudes and beliefs associated with more aggressive diagnostic testing
Variation in clinicians’ diagnostic test utilization is incompletely explained by demographics and likely relates to cognitive characteristics. The authors explored clinician factors associated with diagnostic test utilization
2. Health app policy: international comparison of nine countries' approaches
This study compares the national policy approaches currently in development/use for health apps in nine countries
3. The dawn of digital public health in Europe: Implications for public health policy and practice
Representatives of the European Public Health Association's (EUPHA) Digital Health Section, reflect on the current state of digital public health, share their understanding at the European level, and determine how the application of DPH has developed during the COVID-19 pandemic. Authors also discuss the opportunities, challenges, and implications of the increasing digitalisation of public health in Europe.
Clinical value
FoundationOne®CDx (F1CDx) is an FDA-approved companion diagnostic test to identify patients who may benefit from treatment in accordance with the approved therapeutic product labeling for 28 drug therapies. F1CDx utilizes next-generation sequencing (NGS)-based comprehensive genomic profiling (CGP) technology to examine 324 cancer genes in solid tumors. The assay validation of >30,000 test results comprises a considerable and increasing body of evidence that supports the clinical utility of F1CDx to match patients with solid tumors to targeted therapies or immunotherapies based on their tumor’s genomic alterations and biomarkers.
2. Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players
Inherited kidney diseases are one of the leading causes of chronic kidney disease (CKD) that manifests before the age of 30 years. Precise clinical diagnosis of early-onset CKD is complicated due to the high phenotypic overlap, but genetic testing is a powerful diagnostic tool. Authors aimed to develop a genetic testing strategy to maximize the diagnostic yield for patients presenting with early-onset CKD and to determine the prevalence of the main causative genes. Of the 64 causative genes identified in the cohort, 7 (COL4A3, COL4A4, COL4A5, HNF1B, PKD1, PKD2 and PKHD1) accounted for 66% (198/300) of the genetically diagnosed patients.
Accumulating evidence indicates that alterations of gut microbiota are associated with colorectal cancer (CRC). In this study the authors have established a new machine learning-based CRC diagnostic model using the gut microbiota as an indicator. The results reveal the possibility of the practical application of gut microbiota-based CRC screening tests.
This study aims to determine the predictive yield of serial re-analysis of clinical tumor sequencing data.
5. A clinician's handbook for using ctDNA throughout the patient journey
The authors compare relevant targeted and untargeted approaches to plasma DNA analysis, describe the latest evidence for clinical validity and utility, and highlight the value of genome-wide ctDNA analysis, particularly as it relates to early detection strategies and discovery applications harnessing the non-coding genome.
6. Diagnosis and Treatment of ERBB2-Positive Metastatic Colorectal Cancer: A Review
Amplification of ERBB2 (formerly referred to as HER2) is present in nearly 3% of patients with metastatic colorectal cancer overall and 5% of patients with KRAS and NRAS wild-type tumors. Despite the availability of several ERBB2-targeted therapeutic options for patients with ERBB2-positive breast and gastric/gastroesophageal tumors, to date, there are currently no approved therapies for patients with ERBB2-positive metastatic colorectal cancer, although ERBB2-targeted therapies are recommended in National Comprehensive Cancer Network guidelines. Recent evidence indicates that anti-ERBB2 therapeutic strategies are active in patients with ERBB2-positive metastatic colorectal cancer and could potentially represent a new standard-of-care.
7. Next generation sequencing for detection of EGFR alterations in NSCLC: is more better?
The emergence of sophisticated next generation sequencing (NGS) based technologies in routine molecular diagnostics has paved the way for robust and accurate detection of variants which may otherwise be missed on single gene testing. This study aims at highlighting the same premise in EGFR mutated non-small cell lung carcinoma (NSCLC).
This systematic literature review aims to identify strategies and tools to promote the use of online health interventions for early detection and raising awareness of chronic diseases among the public, and to investigate the evidence regarding the effectiveness of such strategies.
Cost-effectiveness, HTA, real world data
To determine what evidentiary and economic factors impact most on MSAC recommendations for the funding of imaging tests. Information was extracted on health technology assessments (HTAs) of medical imaging tests published on the MSAC website, with a funding decision between 2006 to July 2021. Imaging tests with diagnostic, staging or screening indications were eligible.
10. Health Technology Assessment to assess value of biomarkers in the decision-making process
Clinical practice guidelines (CPGs) on screening, surveillance, and treatment of several diseases recommend the selective use of biomarkers with central role in clinical decision-making and move towards including patients in this process. Authors investigate how Health Technology Assessment (HTA) approach may assess value of biomarkers integrated within the decision-making process.
11. Advancing digital health applications: priorities for innovation in real-world evidence generation
Digital Medicine Society and the Health Innovation Hub of the German Federal Ministry of Health convened a set of roundtable discussions to bring together international experts in evidence generation for digital medicine products. This Viewpoint highlights findings from these discussions with the aims of (1) accelerating and stimulating innovative approaches to digital medical product evaluation, and (2) promoting international harmonisation of best evidentiary practices.