ORCID Profile
0000-0002-5509-4580
Current Organisations
NIHR Imperial Biomedical Research Centre
,
Imperial College London
,
Imperial College Healthcare NHS Trust
,
Royal Marsden NHS Foundation Trust
,
Kings College London
,
University of London
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Publications
Impact of providing patients access to electronic health records on quality and safety of care: a systematic review and meta-analysis
Publisher: BMJ
Date: 12-06-2020
DOI: 10.1136/BMJQS-2019-010581
Abstract: To evaluate the impact of sharing electronic health records (EHRs) with patients and map it across six domains of quality of care (ie, patient-centredness, effectiveness, efficiency, timeliness, equity and safety). Systematic review and meta-analysis. CINAHL, Cochrane, Embase, HMIC, Medline/PubMed and PsycINFO, from 1997 to 2017. Randomised trials focusing on adult subjects, testing an intervention consisting of sharing EHRs with patients, and with an outcome in one of the six domains of quality of care. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines were followed. Title and abstract screening were performed by two pairs of investigators and assessed using the Cochrane Risk of Bias Tool. For each domain, a narrative synthesis of the results was performed, and significant differences in results between low risk and high/unclear risk of bias studies were tested (t-test, p .05). Continuous outcomes evaluated in four studies or more (glycated haemoglobin (HbA1c), systolic blood pressure (SBP) and diastolic blood pressure (DBP)) were pooled as weighted mean difference (WMD) using random effects meta-analysis. Sensitivity analyses were performed for low risk of bias studies, and long-term interventions only (lasting more than 12 months). Twenty studies were included (17 387 participants). The domain most frequently assessed was effectiveness (n=14), and the least were timeliness and equity (n=0). Inconsistent results were found for patient-centredness outcomes (ie, satisfaction, activation, self-efficacy, empowerment or health literacy), with 54.5% of the studies (n=6) demonstrating a beneficial effect. Meta-analyses showed a beneficial effect in effectiveness by reducing absolute values of HbA1c (unit: % WMD=−0.316 95% CI −0.540 to −0.093, p=0.005, I 2 =0%), which remained significant in the sensitivity analyses for low risk of bias studies (WMD= −0.405 95% CI −0.711 to −0.099), and long-term interventions only (WMD=−0.272 95% CI −0.482 to −0.062). A significant reduction of absolute values of SBP (unit: mm Hg) was found but lost in sensitivity analysis for studies with low risk of bias (WMD= −1.375 95% CI −2.791 to 0.041). No significant effect was found for DBP (unit: mm Hg WMD=−0.918 95% CI −2.078 to 0.242, p=0.121, I 2 =0%). Concerning efficiency, most studies (80%, n=4) found either a reduction of healthcare usage or no change. A beneficial effect was observed in a range of safety outcomes (ie, general adherence, medication safety), but not in medication adherence. The proportion of studies reporting a beneficial effect did not differ between low risk and high/unclear risk studies, for the domains evaluated. Our analysis supports that sharing EHRs with patients is effective in reducing HbA1c levels, a major predictor of mortality in type 2 diabetes (mean decrease of −0.405, unit: %) and could improve patient safety. More studies are necessary to enhance meta-analytical power and assess the impact in other domains of care. www.crd.york.ac.uk/PROSPERO (CRD42017070092).
Author Correction: Genomic footprints of activated telomere maintenance mechanisms in cancer
Publisher: Springer Science and Business Media LLC
Date: 08-12-2022
Author Correction: Divergent mutational processes distinguish hypoxic and normoxic tumours
Publisher: Springer Science and Business Media LLC
Date: 08-12-2022
Author Correction: Pathway and network analysis of more than 2500 whole cancer genomes
Publisher: Springer Science and Business Media LLC
Date: 08-12-2022
Author Correction: Reconstructing evolutionary trajectories of mutation signature activities in cancer using TrackSig
Publisher: Springer Science and Business Media LLC
Date: 08-12-2021
Pan-cancer analysis of whole genomes
Publisher: Springer Science and Business Media LLC
Date: 05-02-2020
DOI: 10.1038/S41586-020-1969-6
Abstract: Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale 1–3 . Here we report the integrative analysis of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA). We describe the generation of the PCAWG resource, facilitated by international data sharing using compute clouds. On average, cancer genomes contained 4–5 driver mutations when combining coding and non-coding genomic elements however, in around 5% of cases no drivers were identified, suggesting that cancer driver discovery is not yet complete. Chromothripsis, in which many clustered structural variants arise in a single catastrophic event, is frequently an early event in tumour evolution in acral melanoma, for ex le, these events precede most somatic point mutations and affect several cancer-associated genes simultaneously. Cancers with abnormal telomere maintenance often originate from tissues with low replicative activity and show several mechanisms of preventing telomere attrition to critical levels. Common and rare germline variants affect patterns of somatic mutation, including point mutations, structural variants and somatic retrotransposition. A collection of papers from the PCAWG Consortium describes non-coding mutations that drive cancer beyond those in the TERT promoter 4 identifies new signatures of mutational processes that cause base substitutions, small insertions and deletions and structural variation 5,6 analyses timings and patterns of tumour evolution 7 describes the erse transcriptional consequences of somatic mutation on splicing, expression levels, fusion genes and promoter activity 8,9 and evaluates a range of more-specialized features of cancer genomes 8,10–18 .
Editorial Comment
Publisher: Ovid Technologies (Wolters Kluwer Health)
Date: 05-2014
Author Correction: High-coverage whole-genome analysis of 1220 cancers reveals hundreds of genes deregulated by rearrangement-mediated cis-regulatory alterations
Publisher: Springer Science and Business Media LLC
Date: 08-12-2022
Impact of sharing electronic health records with patients on the quality and safety of care: a systematic review and narrative synthesis protocol
Publisher: BMJ
Date: 08-2018
DOI: 10.1136/BMJOPEN-2017-020387
Abstract: Providing patients with access to electronic health records (EHRs) has emerged as a promising solution to improve quality of care and safety. As the efforts to develop and implement EHR-based data sharing platforms mature and scale up worldwide, there is a need to evaluate the impact of these interventions and to weigh their relative risks and benefits, in order to inform evidence-based health policies. The aim of this work is to systematically characterise and appraise the demonstrated benefits and risks of sharing EHR with patients, by mapping them across the six domains of quality of care of the Institute of Medicine (IOM) analytical framework (ie, patient-centredness, effectiveness, efficiency, timeliness, equity and safety). CINAHL, Cochrane, Embase, HMIC, Medline/PubMed and PsycINFO databases will be searched from January 1997 to August 2017. Primary outcomes will include measures related with the six domains of quality of care of the IOM analytical framework. The quality of the studies will be assessed using the Cochrane Risk of Bias Tool, the ROBINS-I Tool and the Drummond’s checklist. A narrative synthesis will be conducted for all included studies. Subgroup analysis will be performed by domain of quality of care domain and by time scale (ie, short-term, medium-term or long-term impact). The body of evidence will be summarised in a Summary of Findings table and its strength assessed according to the GRADE criteria. This review does not require ethical approval as it will summarise published studies with non-identifiable data. This protocol complies with the Preferred Reporting Items for Systematic Review and Meta-Analyses Protocols guidelines. Findings will be disseminated widely through peer-reviewed publication and conference presentations, and patient partners will be included in summarising the research findings into lay summaries and reports. CRD42017070092.
Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples
Publisher: Springer Science and Business Media LLC
Date: 21-09-2020
DOI: 10.1038/S41467-020-18151-Y
Abstract: The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2,658 cancers across 38 tumour types, we compare WES and WGS side-by-side from 746 TCGA s les, finding that ~80% of mutations overlap in covered exonic regions. We estimate that low variant allele fraction (VAF 15%) and clonal heterogeneity contribute up to 68% of private WGS mutations and 71% of private WES mutations. We observe that ~30% of private WGS mutations trace to mutations identified by a single variant caller in WES consensus efforts. WGS captures both ~50% more variation in exonic regions and un-observed mutations in loci with variable GC-content. Together, our analysis highlights technological ergences between two reproducible somatic variant detection efforts.
Author Correction: Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples
Publisher: Springer Science and Business Media LLC
Date: 30-11-2020
DOI: 10.1038/S41467-020-20128-W
Abstract: Correction to this paper has been published: 0.1038/s41467-020-20128-w
Author Correction: Pan-cancer analysis of whole genomes
Publisher: Springer Science and Business Media LLC
Date: 25-01-2023
Sex differences in oncogenic mutational processes
Publisher: Springer Science and Business Media LLC
Date: 28-08-2020
DOI: 10.1038/S41467-020-17359-2
Abstract: Sex differences have been observed in multiple facets of cancer epidemiology, treatment and biology, and in most cancers outside the sex organs. Efforts to link these clinical differences to specific molecular features have focused on somatic mutations within the coding regions of the genome. Here we report a pan-cancer analysis of sex differences in whole genomes of 1983 tumours of 28 subtypes as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium. We both confirm the results of exome studies, and also uncover previously undescribed sex differences. These include sex-biases in coding and non-coding cancer drivers, mutation prevalence and strikingly, in mutational signatures related to underlying mutational processes. These results underline the pervasiveness of molecular sex differences and strengthen the call for increased consideration of sex in molecular cancer research.
Related Organisations
NIHR Imperial Biomedical Research Centre
Location: United Kingdom of Great Britain and Northern Ireland
Imperial College London
Location: United Kingdom of Great Britain and Northern Ireland
Imperial College Healthcare NHS Trust
Location: United Kingdom of Great Britain and Northern Ireland
Royal Marsden NHS Foundation Trust
Location: United Kingdom of Great Britain and Northern Ireland
Kings College London
Location: United Kingdom of Great Britain and Northern Ireland
London Deanery
Location: United Kingdom of Great Britain and Northern Ireland
University Of London
Location: United Kingdom of Great Britain and Northern Ireland
Related Funding Activities
No related grants have been discovered for Erik Mayer.