scholarly journals Mainstreaming of genomic medicine in gastroenterology, present and future: a nationwide survey of UK gastroenterology trainees

BMJ Open ◽  
2019 ◽  
Vol 9 (10) ◽  
pp. e030505
Author(s):  
Ibrahim Al Bakir ◽  
Gregory Malcolm Sebepos-Rogers ◽  
Hilary Burton ◽  
Kevin J Monahan
Keyword(s):  
Personalised Medicine ◽  
Genomic Medicine ◽  
Nationwide Survey ◽  
Training Programme ◽  
Genomic Testing ◽  
Web Based ◽  
Current State ◽  
Future Clinical Practice ◽  
The Uk

ObjectiveGenomics and personalised medicine are increasingly relevant for patients with gastroenterological conditions. We aim to capture the current state of genomics training in gastroenterology to review current understanding, clinical experience and long-term educational needs of UK trainees.Design and settingA web-based nationwide survey of all UK gastroenterology specialty trainees was conducted in 2017.Results100 trainees (14% of UK gastroenterology trainees) completed this survey. Only 9% and 16% of respondents believe that their local training programme adequately prepares them for the future clinical practice using genomic medicine and personalised medicine, respectively. Barriers identified include the need for greater trainee education (95%), inadequate clinical guidance to base interventions on the results of genomic testing (53%), concerns over misinterpretation by patients (43%) and overuse/misuse of testing by clinicians (34%).Survey respondents felt prepared to perform HFE genotyping (98%), assess TPMT status (97%) and interpret HLA subtyping for suspected coeliac disease (85%). However, only a minority felt prepared to perform the following investigations: polyposis screening (34%), hereditary pancreatitis screening (30%), testing for Lynch yndrome (33%) and KRAS testing for colorectal cancer (20%).Most respondents would support holding dedicated training days on genomic medicine (83%), formal training provisions for the mainstreaming of genomic testing (64%), an update to the UK gastroenterology specialty training curriculum and examinations (57%) and better-defined referral pathways for local genomic services (91%).ConclusionMost gastroenterology trainees in this survey feel ill equipped to practise genomic and personalised medicine as consultants. We propose specific revisions to the UK gastroenterology specialty curriculum that addresses trainees needs.

scholarly journals Genomic medicine in the Middle East

2021 ◽  
Vol 13 (1) ◽  
Author(s):  
Ahmad N. Abou Tayoun ◽  
Khalid A. Fakhro ◽  
Alawi Alsheikh-Ali ◽  
Fowzan S. Alkuraya
Keyword(s):  
Middle East ◽  
Genomic Medicine ◽  
Arab Countries ◽  
Counseling Services ◽  
Genomic Testing ◽  
Clinical Genetics ◽  
Mendelian Genetics ◽  
Current State ◽  
Training And Research ◽  
Genetic Counseling Services

AbstractWe discuss the current state of genomic medicine in Arab countries of the Middle East, a region with outsized contribution to Mendelian genetics due to inbreeding yet has poor representation in global variome datasets. We focus on genomic testing, clinical genetics, and genetic counseling services along with associated training and research programs. Finally, we highlight opportunities for improvement in genomic medicine services in this region.

scholarly journals Implementation of a cloud-based referral platform in ophthalmology: making telemedicine services a reality in eye care

2019 ◽  
Vol 104 (3) ◽  
pp. 312-317 ◽  
Author(s):  
Christoph Kern ◽  
Dun Jack Fu ◽  
Karsten Kortuem ◽  
Josef Huemer ◽  
David Barker ◽  
...  
Keyword(s):  
Retrospective Cohort ◽  
Healthcare Providers ◽  
Age Related Macular Degeneration ◽  
Data Input ◽  
Eye Care ◽  
Web Based ◽  
Age Related ◽  
Specialist Referral ◽  
The Uk

BackgroundHospital Eye Services (HES) in the UK face an increasing number of optometric referrals driven by progress in retinal imaging. The National Health Service (NHS) published a 10-year strategy (NHS Long-Term Plan) to transform services to meet this challenge. In this study, we implemented a cloud-based referral platform to improve communication between optometrists and ophthalmologists.MethodsRetrospective cohort study conducted at Moorfields Eye Hospital, Croydon (NHS Foundation Trust, London, UK). Patients classified into the HES referral pathway by contributing optometrists have been included into this study. Main outcome measures was the reduction of unnecessary referrals.ResultsAfter reviewing the patient’s data in a web-based interface 54 (52%) out of 103 attending patients initially classified into the referral pathway did not need a specialist referral. Fourteen (14%) patients needing urgent treatment were identified. Usability was measured in duration for data input and reviewing which was an average of 9.2 min (median: 5.4; IQR: 3.4–8.7) for optometrists and 3.0 min (median: 3.0; IQR: 1.7–3.9) min for ophthalmologists. A variety of diagnosis was covered by this tool with dry age-related macular degeneration (n=34) being most common.ConclusionAfter implementation more than half of the HES referrals have been avoided. This platform offers a digital-first solution that enables rapid-access eye care for patients in community optometrists, facilitates communication between healthcare providers and may serve as a foundation for implementation of artificial intelligence.

scholarly journals Teacher education research in the UK: the state of the art

2010 ◽  
Vol 32 (1) ◽  
pp. 121-142
Author(s):  
Ian Menter ◽  
Moira Hulme ◽  
Jean Murray ◽  
Anne Campbell ◽  
Ian Hextall ◽  
...  
Keyword(s):  
Teacher Education ◽  
Education Research ◽  
State Of The Art ◽  
Web Based ◽  
The United Kingdom ◽  
Current State ◽  
Methodological Approaches ◽  
Number Of Publications ◽  
The Uk ◽  
Teacher Education Research

This paper offers an analysis of the current state of teacher education research in the United Kingdom (UK). It commences with a brief historical overview of developments over the last century. Some recent «capacity building» initiatives designed to enhance and develop teacher education research are described. There is then a focus on a particular web-based resource that draws together a significant number of publications in UK teacher education research from 2000-2008. This database is then analysed in order to identify in which journals and by which authors this work is produced. The range of methodological approaches and substantive areas of focus that appear to predominate in teacher education research in the UK are reviewed, according to categories within the database. This demonstrates that there are some very real challenges to be faced by teacher education researchers in the years ahead, similar but not identical to those faced elsewhere.

Time for practice: implications of undergraduate pianists’ choices of repertoire

2021 ◽  
pp. 1-12
Author(s):  
Katie Zhukov ◽  
Jane Ginsborg
Keyword(s):  
Undergraduate Students ◽  
Reading Skills ◽  
Classical Music ◽  
Training Programme ◽  
Sight Reading ◽  
Long Term Effects ◽  
The Uk ◽  
Practice Time

Abstract There is an on-going debate as to the skills needed for 21st century careers in classical music and how undergraduate students should learn them. Many graduate pianists report being under-prepared for the music profession, lacking sight-reading skills in particular. While research-evidenced pedagogy for improving sight-reading skills has been developed, little is known regarding what impact enhancing this skill could have on undergraduate educational experience. The present study aimed to evaluate the effect of sight-reading training on undergraduate pianists’ choices of repertoire for practice. Two groups of 12 participants were recruited from three institutions in the UK and Australia. One group undertook the sight-reading training programme for 10 weeks. Both groups listed the solo, concerto, chamber and accompanying repertoire they practised. The mean lengths of time participants spent practising each kind of repertoire were calculated. There were significant effects of institution and therefore country on practice time but no effects of the sight-reading training. Nevertheless, the findings suggest that interventions should be designed to develop pianists’ practical skills, including sight-reading, and the long-term effects of such interventions on quality of deliberate practice, particularly on the types of repertoire that are likely to be most valuable for pianists in the early stages of their career, should be evaluated.

Technology Transfer in HEIs

2005 ◽  
Vol 19 (5) ◽  
pp. 345-361
Author(s):  
Tas Gohir ◽  
Grier Palmer
Keyword(s):  
Biological Sciences ◽  
Technology Transfer ◽  
Academic Entrepreneurship ◽  
Ivy League ◽  
Current State ◽  
Financial Exploitation ◽  
Transfer Operation ◽  
The Uk ◽  
Economic Assets

The UK's bioscience research base is one of the country's genuine long-term economic assets. It is critically important for the UK not to repeat past mistakes, when financial exploitation of innovative and groundbreaking bioresearch went overseas. This study reviews commercialization from the Department of Biological Sciences at Warwick University as a microcosm of the current state of technology transfer in academia. Its technology transfer operation is typical of many other such organizations. Warwick University does, however, have the benefit of being in the ‘Ivy League’ of UK universities and is regarded as a beacon of entrepreneurial flair. If the power of academic entrepreneurship is to be fully unleashed anywhere, Warwick is as well placed as any to capitalize on the opportunities. While the purpose of the study has been to consider how Warwick's enormous entrepreneurial prowess can be harnessed for the greater commercialization of its bioscience research, many of the conclusions and recommendations are applicable to other departments and academic institutions worldwide.

scholarly journals Advancing Charcot-Marie-Tooth disease diagnostics, through the UK 100,000 Genomes Project

2020 ◽  
Vol 32 (3) ◽  
pp. 227-231
Author(s):  
Menelaos Pipis ◽  
Henry Houlden ◽  
Mary M. Reilly
Keyword(s):  
Rapid Development ◽  
Personalised Medicine ◽  
Molecular Genetic ◽  
Genomic Medicine ◽  
Homozygosity Mapping ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Sequencing Technologies ◽  
The Uk ◽  
Tooth Disease

Abstract Whole genome sequencing (WGS) is regarded by many as the pinnacle of contemporary molecular genetic testing, and has only been possible because of the rapid development and roll-out of next-generation sequencing technologies. It provides a phenotype-agnostic analysis of the genome and has important advantages compared to other techniques including a consistent coverage across the coding and non-coding genome, the application of high resolution homozygosity mapping and the ability to detect and highlight structural variation. Realising this potential and with a bid to sequence 100,000 genomes, the UK rolled out the 100,000 Genomes Project as a proof of concept of integrating genomics in the national health service. Participants with cancer and rare diseases enrolled in the project whose infrastructure comprises of a central national biorepository and 13 regional genomic medicine centres where clinicians, geneticists and other scientists work as part of a multidisciplinary team. Amongst participants are also patients with genetically unclassified Charcot-Marie-Tooth disease who have benefited substantially from improved diagnostic rates and many more stand to benefit as the analysis of genomic data is ongoing. WGS is an important tool as we head towards more personalised medicine and in our quest to improve public health and treat and where possible prevent disease.

scholarly journals Addressing unmet needs in opiate dependence: supporting detoxification and advances in relapse prevention

2021 ◽  
pp. 1-11
Author(s):  
Katherine Herlinger ◽  
Anne Lingford-Hughes
Keyword(s):  
Relapse Prevention ◽  
Psychosocial Interventions ◽  
Opiate Dependence ◽  
Opioid Substitution Therapy ◽  
Harm Minimisation ◽  
Pharmacological Management ◽  
Current State ◽  
The Uk ◽  
Opioid Substitution

SUMMARY Despite record-breaking numbers of opiate related deaths in the UK in 2019, pharmacological management of opiate dependence has evolved little since the advent of methadone in 1965. Along with harm minimisation and psychosocial interventions, the mainstay of pharmacological treatment remains opioid substitution therapy (OST) using methadone or buprenorphine, with many patients receiving OST for many years. Even with these treatments, opiate users continue to face mortality risks 12 times higher than the general population, and emerging evidence suggests that individuals who remain on long-term OST present with a range of physical and cognitive impairments. Therefore, with a growing ageing opiate dependent population who would benefit from detoxification from OST, this article provides an overview of the current state of opiate dependence in clinical practice, explores the reasons why availability and acceptability of detoxification pathways are declining, and discusses emerging pharmacological therapies that could provide benefit in relapse prevention.

scholarly journals The usage of Mate Select, a web-based selection tool for pedigree dogs for promoting sustainable breeding

2020 ◽  
Vol 7 (1) ◽  
Author(s):  
Mateja Janes ◽  
Thomas W. Lewis ◽  
Joanna J. Ilska ◽  
John A. Woolliams
Keyword(s):  
Steady Increase ◽  
Substantial Variation ◽  
Web Based ◽  
Kennel Club ◽  
Current State ◽  
Cyclical Pattern ◽  
English Speaking ◽  
Closed Populations ◽  
The Uk ◽  
The Impact

Abstract Background Inbreeding is a phenomenon that accumulates through the mating of relatives within closed populations, such as pedigree dog breeds, and results in reduced genetic variation within breeds, and may lead to poorer health and fertility from inbreeding depression. The impact of inbreeding is driven by the selection and mating of parents, but information on choices to reduce inbreeding is difficult to assess for individual breeders. Tools to inform dog breeders on the current state of the inbreeding and the relationships among possible parents are potentially useful for providing guidance towards choices that are more beneficial to the breed. However, their utility depends on their usage and this study examines the usage of Mate Select, a web-based tool offered by The Kennel Club, covering 222 breeds for a period of 7 years following its launch in 2011. Results The average usage was 2830 searches/week in 2012 with a slight fall of 2.2% per year (P < 0.001) to 2480 searches/week in 2018. Of these, 4% originated from outside the UK, across all continents except Antarctica, with the majority coming from English speaking countries. Searches/week showed a cyclical pattern with two cycles of 26.0 and 50.1 weeks. Since Mate Select’s launch there has been a steady increase in searches from mobile devices, from 11% in 2012 to 43% in 2018. For the 197 breeds with at least 10 dams registered with the Kennel Club during the study period, there was a relationship between usage and registrations, with the average number of searches as a multiple of the number of dams increasing from 2 to 10 for breeds with up to 70 dams and declining towards 2 again for the largest breeds with approximately 20,000 registered dams. However, there remained substantial variation among breeds of similar size, and breeds for which EBVs had become available during the study period had a 2.46 fold greater frequency of searches per registered bitch (P < 0.001), but this was not linked directly to the publication of EBVs. Conclusions Mate Select has sustained and substantial usage, although there is also substantial variation in usage among breeds, which offers an opportunity to develop further guidance.

scholarly journals Not Communicating science? Aiming for national impact

F1000Research ◽  
2016 ◽  
Vol 5 ◽  
pp. 1540 ◽  
Author(s):  
Andreas Prokop ◽  
Sam Illingworth
Keyword(s):  
Science Communication ◽  
Natural Sciences ◽  
Current State ◽  
The Uk ◽  
The Way

Communicating science to wider lay audiences is of increasing importance and is becoming an ever larger part of a scientist's remit which also offers important opportunities. We discuss here the current state of science communication in the field of the natural sciences in the UK, and the enormous improvements that could be achieved through putting more weight on objective-driven long-term initiatives, ideally in the form of interdisciplinary networks, to achieve higher impact. We describe the barriers that stand in the way of such developments and make a number of suggestions how funding organisations in particular could play a major role in overcoming these barriers.

scholarly journals ­­­­The usage of Mate Select, a web-based selection tool for pedigree dogs for promoting sustainable breeding

2020 ◽  
Author(s):  
Mateja Janes ◽  
Thomas W. Lewis ◽  
Joanna J. Ilska ◽  
John A. Woolliams
Keyword(s):  
Steady Increase ◽  
Substantial Variation ◽  
Web Based ◽  
Kennel Club ◽  
Current State ◽  
Cyclical Pattern ◽  
English Speaking ◽  
Closed Populations ◽  
The Uk ◽  
The Impact

Abstract BackgroundInbreeding is a phenomenon that accumulates through the mating of relatives within closed populations, such as pedigree dog breeds, and results in reduced genetic variation within breeds, and may lead to poorer health and fertility from inbreeding depression. The impact of inbreeding is driven by the selection and mating of parents, but information on choices to reduce inbreeding is difficult to assess for individual breeders. Tools to inform dog breeders on the current state of the inbreeding and the relationships among possible parents are potentially useful for providing guidance towards choices that are more beneficial to the breed. However, their utility depends on their usage and this study examines the usage of Mate Select, a web-based tool offered by The Kennel Club, covering 222 breeds for a period of 7 years following its launch in 2011.ResultsThe average usage was 2830 searches/week in 2012 with a slight fall of 2.2% per year (P<0.001) to 2480 searches/week in 2018. Of these, 4% originated from outside the UK, across all continents except Antarctica, with the majority coming from English speaking countries. Searches/week showed a cyclical pattern with two cycles of 26.0 and 50.11 weeks. Sin­­­­ce Mate Select’s launch there has been a steady increase in searches from mobile devices, from 11% in 2012 to 43% in 2018. For the 197 breeds with more than 10 dams registered with the Kennel Club during the study period, there was a relationship between usage and registrations, with the average number of searches as a multiple of the number of dams increasing from 2 to 10 for breeds with up to 70 dams and declining towards 2 again for the largest breeds with approximately 20,000 registered dams. However, there remained substantial variation among breeds of similar size, and breeds for which EBVs had become available during the study period had a 2.46 fold greater frequency of searches per registered bitch (P<0.001), but this was not linked directly to the publication of EBVs.Conclusions Mate Select has sustained and substantial usage, although there is also substantial variation in usage among breeds, which offers an opportunity to develop further guidance.

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