Patient and public involvement in the development of clinical practice guidelines: a scoping review

OBJECTIVES: Organisations that develop clinical practice guidelines (CPGs) encourage involvement of patients and the publics in their development, however, there are no standard methodologies for doing so. To examine how CPGs report patient and public involvement (PPI), we conducted a scoping review of the evidence addressing the following four questions: (1) who are the patients and publics involved in developing the CPG?; (2) from where and how are the patients and publics recruited?; (3) at what stage in the CPG development process are the patients and publics involved? and (4) how do the patients and publics contribute their views? We also extracted data on the use of PPI reporting checklists by the included studies. DESIGN: We used the methodology developed by Arksey and O’Malley and refined by the Joanna Briggs Institute. We searched PubMed, Embase, CINAHL and PsycINFO, websites of national guideline bodies from the UK, Canada, Australia and the USA, and conducted a forward citation search. No language, date or participant demographics restrictions were applied. Data were synthesised narratively. RESULTS: We included 47 studies addressing 1 or more of the 4 questions. All included studies reported who the patient and publics involved (PPI members) were, and several studies reported PPI members from different groups. Patients were reported in 43/47 studies, advocates were reported in 22/47 studies, patients and advocates reported in 17/47 studies, and general public reported in 2/47 studies. Thirty-four studies reported from where the patients and publics were recruited, with patient groups being the most common (20/34). Stage of involvement was reported by 42/47 studies, most commonly at question identification (26/42) and draft review (18/42) stages. Forty-two studies reported how the patients contributed, most commonly via group meetings (18/42) or individual interviews. Ten studies cited or used a reporting checklist to report findings. CONCLUSIONS: Our scoping review has revealed knowledge gaps to inform future research in several ways: replication, terminology and inclusion. First, no standard approach to PPI in CPG development could be inferred from the research. Second, inconsistent terminology to describe patients and publics reduces clarity around which patients and publics have been involved in developing CPGs. Finally, the under-representation of research describing PPI in the development of screening, as opposed to treatment, CPGs warrants further attention

Masterclass Development and use of standardised data collection tools to support and inform musculoskeletal practice

a b s t r a c t Clinicians all over the world are increasingly being faced with the need to demonstrate and account for the way in which clinical services are delivered and the quality of the delivery. It is also imperative to develop a comprehensive profile of who is accessing these services, who benefits from these services; how much these services cost in terms of clinicians time, the use of other healthcare resources and the effectiveness of interventions utilised in relation to quality outcomes. Clinicians are themselves keen to have mechanisms to identify what approaches are being utilised in their own practice setting, how they work best and how they can be improved from a professional development perspective. They are also anxious to improve their skills based on informed reflective practice and identify gaps in their knowledge and skills. This masterclass identifies how standardised data collection (SDC) tools can be utilised in practice to gather the information required in a robust, agreed and accessible way. It summarises a method of SDC tool development and gives some examples of how SDC has been implemented in physiotherapy National Health Services and in physiotherapy private practice in the United Kingdom. The global relevance is that increasingly all physiotherapy services are being held and will be accountable for the quality and equity of care. In addition clinicians can find it useful to have benchmarks with which to compare their own and their departmental performance in terms of clinical activities and outcomes

SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues

Variability in SARS-CoV-2 susceptibility and COVID-19 disease severity between individuals is partly due to genetic factors. Here, we identify 4 genomic loci with suggestive associations for SARS-CoV-2 susceptibility and 19 for COVID-19 disease severity. Four of these 23 loci likely have an ethnicity-specific component. Genome-wide association study (GWAS) signals in 11 loci colocalize with expression quantitative trait loci (eQTLs) associated with the expression of 20 genes in 62 tissues/cell types (range: 1:43 tissues/gene), including lung, brain, heart, muscle, and skin as well as the digestive system and immune system. We perform genetic fine mapping to compute 99% credible SNP sets, which identify 10 GWAS loci that have eight or fewer SNPs in the credible set, including three loci with one single likely causal SNP. Our study suggests that the diverse symptoms and disease severity of COVID-19 observed between individuals is associated with variants across the genome, affecting gene expression levels in a wide variety of tissue types

Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

Dissecting the Shared Genetic Architecture of Suicide Attempt, Psychiatric Disorders, and Known Risk Factors

Background Suicide is a leading cause of death worldwide, and nonfatal suicide attempts, which occur far more frequently, are a major source of disability and social and economic burden. Both have substantial genetic etiology, which is partially shared and partially distinct from that of related psychiatric disorders. Methods We conducted a genome-wide association study (GWAS) of 29,782 suicide attempt (SA) cases and 519,961 controls in the International Suicide Genetics Consortium (ISGC). The GWAS of SA was conditioned on psychiatric disorders using GWAS summary statistics via multitrait-based conditional and joint analysis, to remove genetic effects on SA mediated by psychiatric disorders. We investigated the shared and divergent genetic architectures of SA, psychiatric disorders, and other known risk factors. Results Two loci reached genome-wide significance for SA: the major histocompatibility complex and an intergenic locus on chromosome 7, the latter of which remained associated with SA after conditioning on psychiatric disorders and replicated in an independent cohort from the Million Veteran Program. This locus has been implicated in risk-taking behavior, smoking, and insomnia. SA showed strong genetic correlation with psychiatric disorders, particularly major depression, and also with smoking, pain, risk-taking behavior, sleep disturbances, lower educational attainment, reproductive traits, lower socioeconomic status, and poorer general health. After conditioning on psychiatric disorders, the genetic correlations between SA and psychiatric disorders decreased, whereas those with nonpsychiatric traits remained largely unchanged. Conclusions Our results identify a risk locus that contributes more strongly to SA than other phenotypes and suggest a shared underlying biology between SA and known risk factors that is not mediated by psychiatric disorders.Peer reviewe

Search for new particles in events with energetic jets and large missing transverse momentum in proton-proton collisions at root s=13 TeV

A search is presented for new particles produced at the LHC in proton-proton collisions at root s = 13 TeV, using events with energetic jets and large missing transverse momentum. The analysis is based on a data sample corresponding to an integrated luminosity of 101 fb(-1), collected in 2017-2018 with the CMS detector. Machine learning techniques are used to define separate categories for events with narrow jets from initial-state radiation and events with large-radius jets consistent with a hadronic decay of a W or Z boson. A statistical combination is made with an earlier search based on a data sample of 36 fb(-1), collected in 2016. No significant excess of events is observed with respect to the standard model background expectation determined from control samples in data. The results are interpreted in terms of limits on the branching fraction of an invisible decay of the Higgs boson, as well as constraints on simplified models of dark matter, on first-generation scalar leptoquarks decaying to quarks and neutrinos, and on models with large extra dimensions. Several of the new limits, specifically for spin-1 dark matter mediators, pseudoscalar mediators, colored mediators, and leptoquarks, are the most restrictive to date.Peer reviewe

Combined searches for the production of supersymmetric top quark partners in proton-proton collisions at root s=13 TeV

A combination of searches for top squark pair production using proton-proton collision data at a center-of-mass energy of 13 TeV at the CERN LHC, corresponding to an integrated luminosity of 137 fb(-1) collected by the CMS experiment, is presented. Signatures with at least 2 jets and large missing transverse momentum are categorized into events with 0, 1, or 2 leptons. New results for regions of parameter space where the kinematical properties of top squark pair production and top quark pair production are very similar are presented. Depending on themodel, the combined result excludes a top squarkmass up to 1325 GeV for amassless neutralino, and a neutralinomass up to 700 GeV for a top squarkmass of 1150 GeV. Top squarks with masses from 145 to 295 GeV, for neutralino masses from 0 to 100 GeV, with a mass difference between the top squark and the neutralino in a window of 30 GeV around the mass of the top quark, are excluded for the first time with CMS data. The results of theses searches are also interpreted in an alternative signal model of dark matter production via a spin-0 mediator in association with a top quark pair. Upper limits are set on the cross section for mediator particle masses of up to 420 GeV

Probing effective field theory operators in the associated production of top quarks with a Z boson in multilepton final states at root s=13 TeV

Peer reviewe