Contextualizing genetic risk score for disease screening and rare variant discovery

AbstractStudies of the genetic basis of complex traits have demonstrated a substantial role for common, small-effect variant polygenic burden (PB) as well as large-effect variants (LEV, primarily rare). We identify sufficient conditions in which GWAS-derived PB may be used for well-powered rare pathogenic variant discovery or as a sample prioritization tool for whole-genome or exome sequencing. Through extensive simulations of genetic architectures and generative models of disease liability with parameters informed by empirical data, we quantify the power to detect, among cases, a lower PB in LEV carriers than in non-carriers. Furthermore, we uncover clinically useful conditions wherein the risk derived from the PB is comparable to the LEV-derived risk. The resulting summary-statistics-based methodology (with publicly available software, PB-LEV-SCAN) makes predictions on PB-based LEV screening for 36 complex traits, which we confirm in several disease datasets with available LEV information in the UK Biobank, with important implications on clinical decision-making.

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The value of a consultant physiotherapist within a primary care musculoskeletal interface service: part of the spinal multidisciplinary team

International Journal of Therapy and Rehabilitation ◽

10.12968/ijtr.2019.0057 ◽

2021 ◽

Vol 28 (1) ◽

pp. 1-10

Author(s):

Michelle L Angus ◽

Victoria Dickens ◽

Naveed Yasin ◽

James Greenwood ◽

Irfan Siddique

Keyword(s):

Primary Care ◽

Clinical Decision Making ◽

Clinical Decision ◽

Tertiary Referral Centre ◽

Allied Health Professionals ◽

Convenience Sample ◽

Surgical Services ◽

Pain Pathway ◽

The Uk ◽

Case Based

Background/aims The national low back pain pathway in the UK suggests practitioners managing patients with spinal pathology should be specifically trained to do so and have the ability to link with tertiary spinal services when required. The aim of this study was to ensure referrals through to a tertiary spinal surgical centre are appropriate and patients get the correct advice early in their management pathway. Methods A retrospective review of 700 cases were discussed at a spinal case-based discussion meeting in a primary care interface service, compared to services without this model. A convenience sample of cases were analysed with the consultant physiotherapist and those referred from other allied health professionals into the tertiary spinal surgical centre. Case-based team discussion took place before every referral into the tertiary spinal service, with spinal surgical discussion where required. Results Patients referred from other interface services were more likely to require further work-up such as investigations, or be discharged from clinic on their first attendance than those who had been through the case-based discussion. Conclusions A consultant physiotherapist working as part of the spinal team of a tertiary referral centre can help advanced practitioners with their clinical decision making to help prevent unnecessary referrals to spinal surgical services.

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Clinical decision making in the provision of audiovisual care for upper limb trauma: a survey of UK experiences

Hand Therapy ◽

10.1177/1758998320972132 ◽

2020 ◽

pp. 175899832097213

Author(s):

Emily McMullen ◽

Megan Robson ◽

Mark Paul Brewin ◽

Poonam Valand ◽

Leela Sayed ◽

...

Keyword(s):

Decision Making ◽

Upper Limb ◽

Clinical Decision Making ◽

Clinical Decision ◽

Service Planning ◽

Cross Sectional Survey ◽

Visual Technology ◽

Limb Trauma ◽

The Uk ◽

Decision Making Tool

Introduction For many patients, audio-visual appointments have provided a timely and efficient way of seeking advice, assessment and treatment for their hand injuries during the NHS response to COVID-19. This study aimed to explore the experience of hand units across the UK in determining the safe and judicious use of audio-visual outpatient care for the management of acute upper limb trauma. Methods An online cross-sectional survey was sent to the therapy leads of hand units across the UK. Questions focused on the experience of using audio-visual technology in the management of upper limb trauma, and the relevant factors in determining its appropriate use. A deductive mixed methods analysis was used to identify both common themes and capture community experience and characteristics. Results A total of 51 out of 76 hand therapy units completed the survey; a response rate of 67%. Of these, 82% (42/51) reported using audio-visual technology to manage upper limb trauma during the UK COVID-19 lockdown. When determining patient suitability for audio-visual consultations, 73% (37/51) of respondents reported the use of COVID-19 guidelines, but only 35% (18/51) reported the use of a clinical decision-making tool. In agreement with our experience at Salisbury Hospital Foundation Trust, 92% (47/51) had concerns relating to the use of audio-visual care. Conclusion The choice of safely managed remote care or in-person consultation has, to date, largely relied on the discretion of the clinician. A carefully designed clinical decision-making tool for the management of upper limb trauma is needed for use both in clinical practice and in future service planning.

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Values based psychiatry

European Psychiatry ◽

10.1016/s0924-9338(11)73831-7 ◽

2011 ◽

Vol 26 (S2) ◽

pp. 2128-2128

Author(s):

B.K.W.M. Fulford

Keyword(s):

Mental Health ◽

Clinical Decision Making ◽

Clinical Skills ◽

Clinical Decision ◽

Evidence Based ◽

Involuntary Treatment ◽

New Approach ◽

Health Values ◽

Potential Partner ◽

The Uk

Values-based Practice is a new approach to working with complex and conflicting values in medicine. The approach is derived from work in analytic philosophy on the logic of values. As a practical approach, it is based primarily on learnable clinical skills. Values-based Practice has been developed particularly in mental health, through a number of programmes involving both voluntary sector and government organisations in the UK and internationally. Two examples of these programmes will be presented: one related to the use of involuntary treatment in psychiatry; the other arising from a government-sponsored programme on diagnosis and assessment in mental health. Values-based Practice is currently being extended into other areas of medicine as a potential partner to evidence-based practice in clinical decision making

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Clinical utility of small bowel ultrasound assessment of Crohn’s disease in adults: a systematic scoping review

Frontline Gastroenterology ◽

10.1136/flgastro-2021-101897 ◽

2021 ◽

pp. flgastro-2021-101897

Author(s):

Shellie Jean Radford ◽

Chris Clarke ◽

Bethany Shinkins ◽

Paul Leighton ◽

Stuart Taylor ◽

...

Keyword(s):

Crohn’S Disease ◽

Small Bowel ◽

Crohn's Disease ◽

Clinical Decision Making ◽

Imaging Modality ◽

Point Of Care ◽

Clinical Decision ◽

Search Terms ◽

The Uk ◽

Bowel Ultrasound

BackgroundUltrasound (US) is an alternative to magnetic resonance enterography, and has the potential to significantly reduce waiting times, expedite clinical decision-making and improve patient experience. Point of care US is an advantage of the US imaging modality, where same day scanning, interpretation and treatment decisions can be made.AimTo systematically scope the literature on point of care US use in small bowel Crohn’s disease, generating a comprehensive list of factors relating to the current understanding of clinical utility of this imaging modality.MethodsSearches included MEDLINE, EMBASE, Cochrane Library, Cumulative Index to Nursing and Allied Health Literature, PsycINFO, clinicaltrial.gov,‘TRIP’ and Epistemonikos. Reference lists of included studies were hand searched. Search terms were searched for as both keywords and subject headings (MeSH) as appropriate. Searches were performed with the ‘suggested search terms’ and ‘explode’ selection, and restricted to ‘human’, ‘adult’ and ‘English language’ publications. No date limits were applied to be as inclusive as possible. Two investigators conducted abstract and full-text review. No formal quality appraisal process was undertaken; however, quality of sources was considered when reporting findings. A narrative synthesis was conducted.ResultsThe review included 42 sources from the UK, Europe, Japan, Canada and the USA. Small bowel ultrasound (SBUS) has been shown to be as accurate in detecting the presence of small bowel Crohn’s disease, is quicker, safer and more acceptable to patients, compared with magnetic resonance enterography. SBUS is used widely in central Europe and Canada but has not been embraced in the UK. Further research considering economic evaluation, clinical decision-making and exploration of perceived barriers to future implementation of SBUSs is required.

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Using home sensing technology to assess outcome and recovery after hip and knee replacement in the UK: the HEmiSPHERE study protocol

BMJ Open ◽

10.1136/bmjopen-2018-021862 ◽

2018 ◽

Vol 8 (7) ◽

pp. e021862 ◽

Cited By ~ 10

Author(s):

Sabrina Grant ◽

A W Blom ◽

Michael R Whitehouse ◽

Ian Craddock ◽

Andrew Judge ◽

...

Keyword(s):

Knee Replacement ◽

Clinical Decision Making ◽

Research Collaboration ◽

Clinical Decision ◽

Residential Environment ◽

Joint Replacement Surgery ◽

Replacement Surgery ◽

Movement Data ◽

Sensor Platform ◽

The Uk

IntroductionOver 160 000 people with severe hip or knee pain caused by osteoarthritis undergo total hip (THR) or knee replacement (TKR) surgery each year in the UK within the National Health Service (NHS), and this number is expected to increase. Innovative approaches to evaluating surgical outcomes will be needed to respond to the increasing burden of joint replacement surgery. The Sensor Platform for Healthcare in a Residential Environment, Interdisciplinary Research Collaboration (SPHERE-IRC) have developed a system of sensors that can monitor the health-related behaviours of people living at home. The system includes sensors for the home environment (measuring temperature, humidity, room occupancy, water and electricity usage), a wristband body-worn activity monitor and silhouette (body outline) sensors. The aim of HEmiSPHERE (Hip and knEe study of a Sensor Platform of HEalthcare in a Residential Environment) is to (1) determine the accuracy and feasibility of the sensory data as it compares with conventional assessment of health outcomes after surgery using patient self-reported questionnaires, and (2) to explore how the SPHERE system is useful for everyday clinical decision-making.Methods and analysisA feasibility study recruiting and installing the SPHERE system in the homes of up to 30 NHS adult patients as they undergo a THR or TKR. Through a mixed-methods design, the SPHERE system will monitor and record continuous measurements of daily behaviour. Main outcomes will assess the relationships between environmental, behavioural and movement data and the parameters of interest from the standard clinical assessments measuring patient outcomes over time. Patient interviews and focus groups with consultant orthopaedic surgeons will provide in-depth understanding of the acceptability, feasibility and accuracy of the data.Ethics and disseminationWe aim to disseminate the findings through regional talks and seminars, international conferences and peer-reviewed journals and social media.

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A Survey on the Use of Sensibility Tests by Therapists Hand Therapists in the UK

The British Journal of Hand Therapy ◽

10.1177/175899830200700203 ◽

2002 ◽

Vol 7 (2) ◽

pp. 55-63 ◽

Cited By ~ 1

Author(s):

Christina Jerosch-Herold

Keyword(s):

Clinical Decision Making ◽

Clinical Decision ◽

Postal Questionnaire ◽

Specific Method ◽

Assessment Practices ◽

Frequency Of Use ◽

Long Term Follow Up ◽

The Uk ◽

Evidence Based Guidelines

The assessment of sensibility of the hand, a practice often undertaken by hand therapists, is an important aspect of the long-term follow-up of patients with peripheral nerve injuries. Such assessments provide feedback to the patient and referring surgeon, and a basis for clinical decision-making, clinical audit and research. The purpose of this survey was to investigate the choice of tests and methods of application and interpretation of specific sensibility tests among hand therapists and to compare these findings with recommendations from published research. A postal questionnaire was designed to collect descriptive data on the sensibility assessment practices of hand therapists in the UK. A total of 432 questionnaires were posted to members of the British Association of Hand Therapists. The response rate was 52.1%. Assessments of sensibility are undertaken by 70.7% of respondents. Reasons for the choice of tests, their frequency of use and specific method of application and interpretation of sensibility tests were collated. The findings indicate that pragmatic reasons such as the availability of equipment, time and sufficient patients governed the choice of tests among a large proportion of hand therapists, rather than any research evidence. The need for more accessible and evidence-based guidelines, training and practice in the use of tests and better resources were identified.

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An exploration of the role of advanced clinical practitioners in the East of England

British Journal of Nursing ◽

10.12968/bjon.2020.29.15.864 ◽

2020 ◽

Vol 29 (15) ◽

pp. 864-869

Author(s):

Claire Hooks ◽

Susan Walker

Keyword(s):

Clinical Decision Making ◽

Clinical Decision ◽

Self Awareness ◽

The Uk ◽

The Cost ◽

High Degree ◽

Individual Accountability

Medical staff shortages in the UK have provided impetus for the introduction of advanced clinical practitioners (ACPs). This case study explored the views of 22 ACPs, managers and doctors in primary and acute settings in a region of England, to understand how the role is used, and barriers and facilitators to its success. ACP roles improved the quality of service provision, provided clinical career development and enhanced job satisfaction for staff and required autonomous clinical decision-making, with a high degree of self-awareness and individual accountability. Barriers included disparate pay-scales and funding, difficulty accessing continuing education and research, and lack of agreed role definition and title, due to a lack of standardised regulation and governance, and organisational barriers, including limited access to referral systems. Facilitators were supportive colleagues and opportunities for peer networking. Regulation of ACP roles is urgently needed, along with evaluation of the cost-effectiveness and patient experience of such roles.

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Cross-classification between self-rated health and health status: longitudinal analyses of all-cause mortality and leading causes of death in the UK

Scientific Reports ◽

10.1038/s41598-021-04016-x ◽

2022 ◽

Vol 12 (1) ◽

Author(s):

Julian Mutz ◽

Cathryn M. Lewis

Keyword(s):

Health Status ◽

Causes Of Death ◽

Clinical Decision Making ◽

Clinical Decision ◽

Objective Health ◽

Self Rated Health ◽

All Cause Mortality ◽

Cross Classification ◽

The Uk

AbstractRisk stratification is an important public health priority that is central to clinical decision making and resource allocation. The aim of this study was to examine how different combinations of self-rated and objective health status predict all-cause mortality and leading causes of death in the UK. The UK Biobank study recruited > 500,000 participants between 2006 and 2010. Self-rated health was assessed using a single-item question and health status was derived from medical history, including data on 81 cancer and 443 non-cancer illnesses. Analyses included > 370,000 middle-aged and older adults with a median follow-up of 11.75 (IQR = 1.4) years, yielding 4,320,270 person-years of follow-up. Compared to individuals with excellent self-rated health and favourable health status, individuals with other combinations of self-rated and objective health status had a greater mortality risk, with hazard ratios ranging from HR = 1.22 (95% CI 1.15–1.29, PBonf. < 0.001) for individuals with good self-rated health and favourable health status to HR = 7.14 (95% CI 6.70–7.60, PBonf. < 0.001) for individuals with poor self-rated health and unfavourable health status. Our findings highlight that self-rated health captures additional health-related information and should be more widely assessed. The cross-classification between self-rated health and health status represents a straightforward metric for risk stratification, with applications to population health, clinical decision making and resource allocation.

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Ensemble learning for poor prognosis predictions: a case study on SARS-CoV2

Journal of the American Medical Informatics Association ◽

10.1093/jamia/ocaa295 ◽

2020 ◽

Author(s):

Honghan Wu ◽

Huayu Zhang ◽

Andreas Karwath ◽

Zina Ibrahim ◽

Ting Shi ◽

...

Keyword(s):

Ensemble Learning ◽

Clinical Decision Making ◽

Prediction Models ◽

Population Level ◽

Clinical Decision ◽

Blood Parameters ◽

Clinical Usefulness ◽

Total N ◽

Learning Framework ◽

The Uk

Abstract Objective Risk prediction models are widely used to inform evidence-based clinical decision making. However, few models developed from single cohorts can perform consistently well at population level where diverse prognoses exist (such as the SARS-CoV2 pandemic). This study aims at tackling this challenge by synergising prediction models from the literature using ensemble learning. Materials and Methods In this study we selected and reimplemented seven prediction models for COVID-19, which were derived from diverse cohorts and used different implementation techniques. A novel ensemble learning framework was proposed to synergise them for realising personalised predictions for individual patients. Four diverse international cohorts (2 from the UK and 2 from China; total N=5,394) were used to validate all eight models on discrimination, calibration and clinical usefulness. Results Results showed that individual prediction models could perform well on some cohorts while poorly on others. Conversely, the ensemble model achieved the best performances consistently on all metrics quantifying discrimination, calibration and clinical usefulness. Performance disparities were observed in cohorts from the two countries: all models achieved better performances on the China cohorts. Discussion When individual models were learned from complementary cohorts, the synergised model will have the potential to achieve synergised performances. Results indicate that blood parameters and physiological measurements might have better predictive powers when collected early, which remains to be confirmed by further studies. Conclusions Combining a diverse set of individual prediction models, ensemble method can synergise a robust and well-performing model by choosing the most competent ones for individual patients.

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