In October 2022, we have identified the following access and policy-relevant scientific publications that caught our attention from the (digital) diagnostics perspective. Check them out:
Precision medicine (oncology) real-world studies, reviews
1. Access and quality of biomarker testing for precision oncology in Europe
The International Quality Network for Pathology, the European Cancer Patient Coalition and the European Federation of Pharmaceuticals Industries and Associations evaluated the access to and quality of biomarker testing across Europe. Uptake of multi-biomarker next generation sequencing (NGS) is highly varied, ranging from 0% to >50%. Financial constraints, a lack of NGS testing capabilities and the failure to include NGS testing in the guidelines represent the main barriers to NGS implementation. The quality of biomarker testing is highest in Western and Northern Europe, with more than 90% of laboratories participating in quality assurance schemes
Using a multisource database including commercial and Medicare claims and laboratory data from over 500,000 patients with non-small-cell lung cancer in the United States, the authors analyzed the number of patients with newly diagnosed aNSCLC who could have, but did not, benefit from a personalized treatment. For every 1,000 patients in the study cohort, 497 (49.7%) are lost to precision oncology because of factors associated with getting biomarker test results.
3. Clinical Application of Next-Generation Sequencing in Patients With Breast Cancer: Real-World Data
Next-generation sequencing (NGS)-based tumor panel testing has been reimbursed by the Korean government since 2017. The authors evaluated the use of NGS-based tumor panel testing in real-world clinical practice, focusing on molecular profiling (MP)-guided breast cancer treatment. In a cohort of 147 patients, 81% with targetable genomic alteration did not receive MP-guided treatment due to lack of matched drugs and/or clinical trials, poor performance status, and/or financial burden.
In a Finnish cohort of 135 lung adenocarcinoma patients, over two-thirds, and especially never-smokers had an actionable genomic alteration or signature. SMARCA4 alterations, detected in 7.4% of the tumors, independently predicted a shortened overall and disease-specific survival regardless of the alteration type
Guidelines and recommendations
The College of American Pathologists convened an expert panel to develop evidence-based guidelines to identify the optimal clinical laboratory test to identify defects in DNA mismatch repair in patients with solid tumor malignancies who are being considered for immune checkpoint inhibitor therapy.
2. How to read a next-generation sequencing report-what oncologists need to know
The European Society for Medical Oncology (ESMO) has recently published recommendations for the use of NGS in patients with advanced cancer. We complement the ESMO recommendations with a practical review of how oncologists should read and interpret NGS reports.
Policy
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. This effort builds on existing developments for the national implementation of structured pathology reporting.
2. Valuing genetic and genomic testing in France: current challenges and latest evidence
In this paper, authors review challenges associated with implementing genomic testing in France. One of the pilot studies of the French Plan for Genomic Medicine 2025 is presented as an illustration of the role of health economists in overcoming some of the challenges of this technological revolution.
Digital Health
This study explores general practitioners' (GPs) attitudes, expectations, and experiences with regard to the application potential of DiGA. Of the GPs with DiGA experience, 83% rate the prescribed applications as useful. Observed healthcare effects mainly relate to the improvement of compliance (95%), mobility (94%), and education (93%) as well as weight reduction (82%). The respondents suggest further optimization of DIGA, especially with regard to usability (59%), systematic further training of doctors (52%), and the expansion of gamification elements (49%).
The Care Optimization Through Patient and Hospital Engagement Clinical Trial for Heart Failure trial (CONNECT-HF) included an optional, prospective ancillary study of a mobile health application among patients hospitalized due to HFrEF. Among 2431 patients offered digital applications across the United States, 63% had limited digital access or insufficient data, 17% were digital users, and 20% declined use. Digital users were similar in age to those who declined use (mean 58 vs 60 years). Digital users vs matched nonusers had improved composite HF quality scores and composite clinical outcomes.
Clinical value
Despite the superior diagnostic performance of exome and genome sequencing compared with conventional genetic tests, evidence gaps related to clinical utility and cost effectiveness have limited their availability in routine clinical practice in many jurisdictions. To inform adoption and reimbursement policy, this protocol provides a chain of evidence approach to determining the diagnostic utility, clinical utility and cost-effectiveness of whole exome sequencing (WES) from seven medical genetic centres in two Canadian provinces.
Data supporting the clinical utility of mt-sDNA at the guideline-recommended 3-year interval have not been reported. Between April 2015 and July 2016, candidates for CRC screening whose providers prescribed the mt-sDNA test were enrolled. Participants with a positive baseline test were recommended for colonoscopy and completed the study. Those with a negative baseline test were followed annually for three years. The observed 3-year CRC yield was lower than expected (one-sided p=0.09), while that for advanced precancerous lesions was higher than expected (two-sided p=0.009). Repeat mt-sDNA screening at a 3-year interval resulted in a statistically significant gain in detection of advanced precancerous lesions.
Cost-effectiveness, economic analyses, resource use
In this observational study of patients at risk of UTI misdiagnosis, urine testing was associated with inappropriate antibiotic use and delayed discharge. There is pressure on providers to perform diagnostic testing, but in patients without specific UTI symptoms, urine testing might cause more harm than benefit.
2. Cost-effectiveness of digital therapeutics for essential hypertension
This study aimed to analyze the cost-effectiveness of using prescription DTx in treating hypertension. Based on modelling from a previous trial, the authors concluded that the DTx plus treatment as usual (TAU) strategy was more cost-effective than the treatment as usual strategy.