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1.
Nat Med ; 30(7): 1905-1912, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38956197

RESUMO

Clinical whole-genome sequencing (WGS) has been shown to deliver potential benefits to children with cancer and to alter treatment in high-risk patient groups. It remains unknown whether offering WGS to every child with suspected cancer can change patient management. We collected WGS variant calls and clinical and diagnostic information from 281 children (282 tumors) across two English units (n = 152 from a hematology center, n = 130 from a solid tumor center) where WGS had become a routine test. Our key finding was that variants uniquely attributable to WGS changed the management in ~7% (20 out of 282) of cases while providing additional disease-relevant findings, beyond standard-of-care molecular tests, in 108 instances for 83 (29%) cases. Furthermore, WGS faithfully reproduced every standard-of-care molecular test (n = 738) and revealed several previously unknown genomic features of childhood tumors. We show that WGS can be delivered as part of routine clinical care to children with suspected cancer and can change clinical management by delivering unexpected genomic insights. Our experience portrays WGS as a clinically impactful assay for routine practice, providing opportunities for assay consolidation and for delivery of molecularly informed patient care.


Assuntos
Neoplasias , Sequenciamento Completo do Genoma , Humanos , Neoplasias/genética , Neoplasias/terapia , Neoplasias/diagnóstico , Criança , Masculino , Pré-Escolar , Feminino , Adolescente , Lactente , Testes Genéticos/métodos , Genoma Humano/genética , Genômica/métodos , Recém-Nascido
2.
Ann Med Surg (Lond) ; 56: 77-81, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32612821

RESUMO

Clinical Handover has been identified as one of the most high-risk processes within medicine. Inadequate handover is a significant cause of avoidable adverse events across many hospitals. A likert-survey of the weekend handover system at a district general hospital demonstrated significant dissatisfaction amongst junior doctors. Intending to improve patient safety and reduce stress for on-call junior doctors, a weekend handover proforma was compiled according to the Royal College of Physicians and Surgeons guidelines. The proforma was trialed on six medical wards for six months with a before and after questionnaire being sent to doctors on the wards involved to determine the proforma's merits on a scale of 1 (least effective) to 10 (most effective). Reports subsequent to implementation demonstrated a 67% increase ease of identifying outstanding weekend jobs. 57% of doctors reported better understanding of their patient's diagnosis and management plan and 53% stated it was easier to identify the patients that required regular medical review over the weekend. Results also highlighted a 55% reported an increase in safety of weekend handovers (p<0.01). A closed loop audit of handover practice through the use of a standardised proforma showed improved quality, detail and consistency of handovers. The reduction in stress for junior doctors managing unknown patients with a clear concise plan, directed by a senior from the parent team during the week, has improved patient safety and doctor satisfaction.

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