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The COVID-19 pandemic changed the delivery of healthcare within the United Kingdom. A virtual model of care, utilising telephone and video consultations, was rapidly imposed upon cancer genetics teams. This large-scale change in service delivery has led to new opportunities that can be harnessed to improve patient care. There is a clear potential to mitigate geographical barriers, meet increasing patient expectations of implementing virtual consultations, reduce hospital carbon footprints, and decrease hospital costs while increasing efficiency. However, there are also significant challenges introduced by this model of care. Virtual healthcare consultations introduce another new level of digital exclusion for patients and clinicians. There are also potential challenges for maintaining patient confidentiality, and limited utility in circumstances where a physical exam may be warranted. For clinicians, there may be impacts on empathetic responses delivered and challenges in workflow and workload. Virtual consultations are likely to continue being a feature of cancer genetics services. A flexible approach is needed to allow for virtual and traditional models of care to work together and best meet patients’ needs. Cancer genetics services should harness the opportunities provided by virtual processes to improve patient care, whilst collaborating with patient groups and other stakeholders to carefully examine and address the challenges that virtual consultations introduce.

Postpyloric (or jejunal) feeding may be required in children where feeding via gastrostomy is associated with problems of severe gastro-oesophageal reflux leading to faltering growth.

Two similar studies have described using the CRISPR/Cas9 system in vivo to increase expression of the dystrophin gene and improve muscle function in mouse models of DMD. 6 7 Other studies have used CRISPR/Cas9 to target duplication of exons in the human dystrophin gene in vitro and have shown that this approach can lead to production of full-length dystrophin in the myotubules of an individual with DMD. 8 CRISPR/Cas9 could also be used to treat haemoglobinopathies. After further refinement, the authors suggest their findings may enable gene therapies or transplantation of genetically altered bone marrow stem cells or inducible pluripotent stem cells to eradicate HIV infection. 10 Engineering somatic cells ex vivo to treat malignancy or other diseases There has been increasing interest in the possibility of using CRISPR/Cas9 to modify patient-derived T-cells and stem/progenitor cells which can then be reintroduced into patients to treat disease.

BackgroundThe terms ancestry, race and ethnicity are used variably within the medical literature and within society and clinical care. Biological lineage can provide an important context for the interpretation of genomic data, but the language used, and practices around when to ascertain this, vary.MethodsUsing a fictional case scenario we explore the relevance of questions around ancestry, race and ethnicity in clinical genetic practice.ResultsIn the UK, data on ‘ethnicity’ are routinely collected by those using genomic medicine, as well as within the wider UK National Health Service, although the reasons for this are not always clear to practitioners and patients. Sometimes it is requested as a proxy for biological lineage to aid variant interpretation, refine estimations of carrier frequency and guide decisions around the need for pharmacogenetic testing.ConclusionThere are many challenges around the use and utility of these terms. Currently, genomic databases are populated primarily with data from people of European descent, and this can lead to health disparities and poorer service for minoritised or underserved populations. Sensitivity and consideration are needed when communicating with patients around these areas. We explore the role and relevance of language around biological lineage in clinical genetics practice.

ObjectiveTo assess the efficacy of oral low-level laser therapy (LLLT) – also known as photobiomodulation – in the reduction of oral mucositis experienced by children and young people with cancer undergoing chemotherapy.DesignA systematic review to evaluate the efficacy of oral LLLT for oral mucositis in children with cancer and the safety of oral LLLT in any age with cancer (International Prospective Register of Systematic Reviews/PROSPERO registration: CRD42018099772). Multiple databases and grey literature were screened. Randomised controlled trials were considered for assessing efficacy, and all studies were considered for assessing safety. Primary outcomes included severity of oral mucositis, oral pain and adverse events. Where results were compatible, meta-analysis was performed using a random-effects model. A narrative synthesis considered other outcome measures.Results14 studies (n>416 children) were included in the narrative synthesis of LLLT efficacy. 5 studies (n=380 children and young people) were included in the meta-analyses. Results demonstrate that LLLT may reduce the severity of oral mucositis and the level of oral pain, but further randomised controlled trials are needed to confirm or deny this. There is vast variation in different trial protocols. Insufficient blinding between LLLT or sham therapy/control led to a strong risk of performance bias. 75 studies (encompassing 2712 patients of all ages who had undergone LLLT) demonstrated minor and infrequent adverse reactions, but most studies had significant areas of weakness in quality.ConclusionLLLT appears to be a safe therapy, but further evidence is needed to assess its efficacy as a prevention or treatment tool for oral mucositis in children with cancer.

AimsGenomic testing is often important in the management of neonates in tertiary care. Tests need to be timely, and families need to be adequately counselled to allow informed decision making. Both teams identified several interventions to improve genetics management on the neonatal unit, particularly in response to the Covid pandemic.Our objectives were to improve current practices by focussing on two areas:1. Access to genetics expertise, with an emphasis on virtual working2. Current practices surrounding consent for genetic investigationsMethodsIn response to the Covid pandemic a Neonatal-Genetics virtual MDT was implemented in September 2020. Data was retrospectively collected from the medical notes of all neonates referred to genetics during a fifteen-month period (December 2019-March 2021) to allow for comparison of data before and after this intervention. Data was collected on consent documentation for genetic tests (QF-PCR, microarray) in the neonatal unit. As consent documentation appeared sparse, a survey was disseminated to all clinicians on the unit in February 2021 to assess knowledge of genomic testing and consent-taking. An email survey was sent to 6 neonatal units in Yorkshire and the Humber in August 2021 to explore regional variations in consent processes.ResultsThere was an increase in referral rate from 1.5% to 2.3% after MDT introduction but a 33% reduction in the proportion of babies requiring in-person geneticist reviews. Anecdotally, the MDT was considered a positive change by both teams by facilitating continued communication. Only 11% of neonates (n=2 of 17) had adequate consent documentation for genomic tests by the neonatal team. Of 27 respondents of the staff survey, only 2 (7%) had received formal training in consent for genomic tests and only 22% (n=6 out of 27) felt confident in consenting and explaining genetic testing to parents. All (100%) respondents felt a teaching session on genomic testing would be helpful, and all respondents agreed that it would be beneficial to develop a guideline to aid the consent process. None of the regional neonatal units contacted had a formal education program or standardised guideline in place. In response to this, a teaching programme was devised and a checklist created to facilitate the consent process for genetic testing. The teaching sessions were well-received, attendees scored the sessions an average of 4.8 out of 5 (n=19 respondents) for overall usefulness and quality.ConclusionIntroducing an MDT allowed for streamlined working during the pandemic and facilitated ongoing discussions of neonates with evolving phenotypes, whilst reducing the burden of inpatient reviews for a busy regional genetics service. Our data identified a paucity of genetic test consent documentation and our survey suggested that staff training and confidence around genomic testing/consent was a contributing factor. Therefore, an educational package for clinicians was developed. This was well-received, and a checklist was created to simplify and standardise documentation. A repeat analysis will be undertaken this year to assess the efficacy of these interventions. The intention is to expand the education package and consent checklist to units within our region and beyond.

Correspondence to Dr Melody Redman, Department of Oncology of Metabolism, University of Sheffield, Sheffield S10 2TN, UK; meloredman@gmail.com We thank Professor Dimitri of the National Institute for Health Research Children and Young People Medical Technology Co-operative (NIHR CYP MedTech) for sharing his insight into the future role of child health technology across the National Health Service.1 We agree that there are clear roles for developing new technologies to address some of the unmet health needs of CYP. According to this guidance, LLLT may be administered up to five times per week during oncology treatment, with each treatment taking up to around 30 minutes.2 However, details on administration—for example, dose, wavelength and power are not provided. A systematic review and meta-analysis of the effect of low-level laser therapy (LLLT) on chemotherapy-induced oral mucositis in pediatric and young patients.

ObjectiveTo quantitatively analyse the number of doctors leaving the paediatric specialty training (ST) programme in the UK, to assist with evidence-based workforce planning.DesignData were sought on those leaving the UK paediatrics training programme between 2014 and 2019 from Heads of Schools of Paediatrics and Freedom of Information Act requests.SettingRetrospective data analysis.Outcome measuresOverall attrition rate, attrition rate across level of training, attrition rate across geographical area, recorded reason for leaving.ResultsAll results must be interpreted with caution due to limitations in record keeping and analysis. The annual attrition rate across all ST levels between 2014 and 2019 is estimated at 3.7%–4.2% (ie, 749–845 trainees may have left the paediatric training programme over 2014–2019). No reason for leaving was recorded for three-quarters of individuals, around 630 doctors. Of those leaving paediatrics, significantly more (χ², p=0.015) did so at ST3 (20.3%) versus the next highest training year, ST2 (13.6%).ConclusionsThis project seems to demonstrate worryingly poor record-keeping of the true attrition rate of paediatric trainees by organisations responsible for workforce planning, including Health Education England, the Royal College of Paediatrics and Child Health and individual paediatric schools across the UK. To allow evidence-based workforce planning for the benefit of UK children, it is vital that accurate records on trainees who leave the training programme are kept and shared across the UK.

ObjectiveTo determine trends in the demographics and destinations of doctors who have recently completed paediatric training in the UK.DesignA survey was sent to all new paediatric certificate holders 1 year on from completing specialty training every year from 2011 to 2017.SettingRetrospective survey.Outcome measuresDemographics, career destinations, time to complete training, working patterns, subspecialty registration, numbers of job applications, and use of the period of grace are reported.Results1262 people who gained their paediatric certificate in the UK between 2011 and 2017 completed the survey (60.6% response rate). 58.5% (n=738) of respondents were female, and 32.4% (n=224) of women work less than full time, compared with 4.6% (n=23) of men. 85.9% (n=1056) of respondents were in a UK consultant post. 7.6% (n=94) were working overseas. 65.1% (n=722) remained in the region they trained in. 64.8% (n=1348) were registered for general paediatrics, whereas 35.2% (n=733) had subspecialised.Respondents who held a non-UK medical degree (47.5%, n=501) made more job applications on average (mean=2.2; 95% CI 2.0 to 2.5) than those with a UK degree (52.5%, n=554) (mean=1.1; 95% CI 1.0 to 1.2) (p<0.001). Average training time increased from 9.8 years (95% CI 9.4 to 10.2) to 11.3 years (95% CI 11.1 to 11.6) (p<0.001). Respondents’ use of their grace period reduced from 42.7% (n=47) to 20.6% (n=29) (p<0.001).ConclusionsThe data reflect the diverse paediatric workforce and doctors’ working patterns following the completion of paediatric training in the UK. The trends demonstrated are vital to consider for evidence-based workforce planning.

ObjectivesAs mainstreaming of genomic medicine is being implemented rapidly throughout paediatrics, it is critical that healthcare professionals are effectively upskilled in a timely fashion.1 Genomic Notes for Clinicians (GeNotes) is an NHS England National Genomics Education freely accessible online ‘just in time’ educational resource, designed to meet this need. It is aligned to the National Genomic Test Directory and supports clinicians, at the point of care, to identify when and how to request genomic tests and return results (‘In The Clinic’), and provides and extended learning opportunity (‘Knowledge Hub’). Paediatric content was launched on the public beta website in May 2023. We assessed usability, content and real-world use of the paediatric GeNotes resources.MethodsUsability testing took place in March 2022 and comprised user testing sessions in which participants completed a series of tasks using GeNotes by following a relevant clinical scenario. Data were collected via moderated user testing sessions, a feedback questionnaire and follow-up interviews. The sessions and interviews included a System Usability Scale (SUS) assessment.2 Live website analytics were undertaken to identify those pages most frequently accessed. Self-selection bias may affect the results as participants are likely to have a positive attitude towards genomics. We excluded IP addresses from National Genomics Education staff to avoid skewing the data on the pre-launch test site, however this was not possible for the live website.ResultsFive user testing sessions, 31 feedback surveys and 3 follow-up interviews were conducted. 61% of survey respondents were consultants and 39% were trainees working across quaternary, tertiary, secondary and community paediatrics across various UK regions. 91% said they would be likely or very likely to use GeNotes in the future. The mean SUS score was 86, indicating a high usability (the mean score for digital services is 68). Respondents reported that content is easy to navigate and appropriately detailed. Live website analytics identified that, between 14th June and 27th September 2023, there were 2,753 visits by 1,563 users to paediatric ‘In the Clinic’ pages, most frequently developmental delay/intellectual disability, macrocephaly, and suspected autism spectrum disorder.ConclusionUser testing suggests that GeNotes is a well-received, highly-usable educational resource appropriately pitched at paediatricians, which is being frequently accessed. Further work is required to expand the repository of resources in line with this rapidly evolving field, including resources to support Genomics England’s Generation Study, and to improve accessibility by exploring other routes of access, such as a mobile application.ReferencesAccelerating genomic medicine in the NHS, NHS England, 2022.Brooke J. SUS: A quick and dirty usability scale’ in Usability Evaluation in Industry, 1996.