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Psychosocial effects of whole-body MRI screening in adult high-risk pathogenic TP53 mutation carriers: a case-controlled study (SIGNIFY)
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  • Published on:
    Parental views of a Paediatric TP53 Surveillance Clinic
    • Shereen Tadros, SpR in Clinical Genetics North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Trust
    • Other Contributors:
      • Mette Jorgensen, Consultant in Paediatric Oncology
      • Munaza Ahmed, Consultant in Clinical Genetics; Lead for Cancer Genetics; Chief of Clinical Genetics

    Constitutional pathogenic variants in TP53 are associated with a significant paediatric tumour risk with up to 41% of affected people developing their first tumour by the age of 18 [1]. Recently published UK Clinical Genetics Group Guidelines recommend childhood surveillance for carriers of TP53 pathogenic variants including annual whole-body and brain MRI, 3-4 monthly abdominal ultrasound and review in a dedicated clinic [2]. Such surveillance has been ongoing at Great Ormond Street Hospital (GOSH) for over three years. Through seeking parental views, we demonstrated that the surveillance is generally acceptable for children and their families, with high levels of expressed satisfaction.

    It has long been recognised that hospital procedures may present a source of anxiety and psychological distress for children and their families [3]. Recent work by SIGNIFY reported in this journal has demonstrated that adult carriers of TP53 pathogenic variants generally experienced low levels of psychological morbidity around whole-body MRI and found it to be an acceptable intervention [4]. However, comparable data around children’s experiences did not exist. We were keen to understand more about children's and parents’ experience of this surveillance clinic, including any associated burden.

    24 families representing a total of 41 children under the care of the TP53 carrier clinic at GOSH were invited by telephone to take part in a semi-structured anonymous online sur...

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    Conflict of Interest:
    None declared.