Ancestry, race and ethnicity: the role and relevance of language in clinical genetics practice.

BACKGROUND: The 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. METHODS: Using a fictional case scenario we explore the relevance of questions around ancestry, race and ethnicity in clinical genetic practice. RESULTS: In 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. CONCLUSION: There 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.

Low-level laser therapy for oral mucositis in children with cancer.

OBJECTIVE: To 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. DESIGN: A 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. RESULTS: 14 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. CONCLUSION: LLLT 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.

Searching for the true attrition rate of UK paediatric trainees.

OBJECTIVE: To quantitatively analyse the number of doctors leaving the paediatric specialty training (ST) programme in the UK, to assist with evidence-based workforce planning. DESIGN: Data 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. SETTING: Retrospective data analysis. OUTCOME MEASURES: Overall attrition rate, attrition rate across level of training, attrition rate across geographical area, recorded reason for leaving. RESULTS: All 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%). CONCLUSIONS: This 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.

Completion of paediatric training: trends across 2011-2017 cohorts.

OBJECTIVE: To determine trends in the demographics and destinations of doctors who have recently completed paediatric training in the UK. DESIGN: A survey was sent to all new paediatric certificate holders 1 year on from completing specialty training every year from 2011 to 2017. SETTING: Retrospective survey. OUTCOME MEASURES: Demographics, career destinations, time to complete training, working patterns, subspecialty registration, numbers of job applications, and use of the period of grace are reported. RESULTS: 1262 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). CONCLUSIONS: The 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.

Osteogenesis imperfecta type I: The role of deep phenotyping in a patient with a ruptured uterus.

As molecular diagnosis of Osteogenesis Imperfecta has become more accessible, there is an increasing ability to consider additional techniques to undertake deep phenotyping of the patient. In this report, we present the details of a female patient with type I Osteogenesis Imperfecta caused due to a pathogenic COL1A1 variant, who suffered from uterine rupture during labour in her second pregnancy, at age 33. Her presentation, patient journey, and histological results are described. Collagen flowers were identified with electron microscopy of a skin biopsy, and the significance of these are explored. Two other recorded cases of women with Osteogenesis Imperfecta who developed uterine rupture are discussed. This report demonstrates the potential role for ultrastructural tissue examination and deep phenotyping, to allow further insights into the relationship between genotype and phenotype.