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We bring you an interesting pot pourri of various topics that will appeal to primary care physicians, general paediatricians and sub specialists. Space limitations sadly permit only the highlighting of a few of them here although they are universally so good that they could all easily be chosen as Editor’s choice.
The Generation Study, a world leading initiative led by Genomics England in partnership with NHS England, commenced this year. It aims to screen up to 100 000 newborns in England for over 200 rare, treatable genetic conditions, which are usually asymptomatic in babies.1 Neonatal intensive care units (NICUs) are a priority implementation area for genomic medicine and the last couple of years has seen the swift adoption of rapid genomic sequencing in NICUs. The capability to diagnose and intervene at an early stage emphasises the crucial role of genomics in transforming neonatal care. However, the mainstreaming of genomic testing has been challenging for clinicians. Clinicians are now required to be equipped with a comprehensive understanding of available genomic testing. There is a need to rapidly upscale deeper understanding (including implications on clinical decision-making), to develop models of good practice for gaining consent and to understand effect of rapid diagnosis for families. Jessica Salkind and colleagues bring us a timely article which summarises key genomic testing approaches in the neonates, their indications and potential limitations ( see page 292 ). The article explores the genomic testing landscape in the NICU well and is highly recommended read. This is my Editors’ Choice.
This issue also includes the last article of the series 'Acute safeguarding essentials in modern day paediatrics'. The article focuses on sexual relationships in adolescents and consent. Helen Thomas and colleagues draw out some of the key legal issues around sexual relationships and consent. They remind us to respect young people’s right to confidentiality, if it is not outweighed by risk to their health, safety or well-being. The article provides guidance on how health care professionals can support adolescents in navigating challenging situations, highlighting the intricate play of shared decision-making process and how it involves facilitating wider support for the patient ( see page 276 ).
The running theme of the articles, I have mentioned above also feature aspects of Shared decision making (SDM) which entails a person-centred approach to improving healthcare quality. It ensures that young people and their families get a voice and that decisions are made with the young patient’s best interest as core. Arvind Nagra and colleagues provide a practical guide in how to embed SDM in our daily clinical practice, including using simple and adaptable tools like ‘Ask 3 Questions’. SDM has benefits for both the family and healthcare providers. Structured implementation helps embed SDM processes into the wider healthcare system ( see page 264 ).
Another interesting article is by La Reina Sangaran et al. They take us through the diagnostic odyssey of a child ultimately diagnosed with scurvy ( see page 306 ). Whilst scurvy can be easily treated with vitamin C, often the diagnosis is overlooked by physicians leading to extensive investigations as certain symptoms (especially musculoskeletal and vascular manifestations associated with scurvy) can mimic rheumatological conditions. The article highlights the importance of exploring diet during standard history taking, as it can be a crucial tenet of many diseases. The article provides many learning nuggets which can be adopted in clinical practice.
As the year draws to close, with festive celebrations just around the corner, it is a time of reflection and a time to thank the many people who have contributed to the success of this journal over the year.
The publication process is a complex activity that involves many professionals, not least important our associate editors. They bring breath of expertise, oversee the review process and make recommendations for publications; at E&P they also support authors on shaping article. Our associate editors have worked tirelessly to bring you the high-quality articles which you read and I owe all of them a big thanks. Next, our reviewers: they are central to the publication process, ensuring high-quality peer reviews by working diligently behind the scenes to provide feedback. We extend our sincere gratitude to all of them and hope they continue to engage with the journal.
Apart from reviewers, the quality of a journal is dependent on two other major contributors—authors and readers. To both, a heartfelt thank you.
Please feel free to drop me a line, provide suggestions and give feedback to help further develop our journal. But most importantly, continue to read, support and submit papers to us. During the festive season, I hope you have a restful and enjoyable time: Happy holidays, everyone!
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Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Provenance and peer review Commissioned; internally peer reviewed.