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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 . 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 . 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 . 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 . 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...
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 survey. The survey started with demographic questions and continued to questions about the levels of anxiety, optimism and satisfaction associated with clinic visits, scans, and being part of the surveillance clinic overall. Each question started with a structured format but also invited free-text comments.
All families agreed to receive the survey and 16/24 families completed it. Of these, six had children affected with a tumour, all of which were identified prior to starting the surveillance programme. 13 respondents had wider familial experience of tumours, including ten with an affected parent.
A majority of the respondents (eleven) had been part of the clinic for at least one year.
Overall, parents reported a very high degree of satisfaction associated with being part of the surveillance clinic. One respondent had not yet had an MRI and one had not yet had any surveillance.
Of those whose children had started surveillance scans, 14/15 parents (93%) reported being satisfied or very satisfied with the clinic visits, the ultrasound scans and the service as a whole. Levels of satisfaction with the MRI scans were comparable, with 13/14 respondents (93%) reporting being satisfied or very satisfied.
Half of parents reported higher levels of optimism about their child’s diagnosis since being invited to join the surveillance clinic. Of those whose child had started surveillance scans, just 3/15 (20%) felt anxious or very anxious about attending. Comments by parents suggested that this was associated with waiting for results, and that it was preferable to the alternative of no surveillance:
‘[I feel] anxiety when waiting for results.’
‘[I feel anxious about] not knowing what could be detected.’
‘The alternative of no clinic/surveillance is a million times worse.’
Only 2/15 children were felt by their parents to be anxious or very anxious about attending. Parents expressed that their children were comforted by the atmosphere in the hospital:
‘[S]he enjoys visiting the hospital as it is set up to make children feel at ease.’
Others expressed that their children were too young to understand the implications.
All parents expressed that they felt the surveillance was valuable and that they had a good understanding of its aims. Some mentioned that they were aware the surveillance may not improve outcome but they felt supported by being part of the clinic and ‘having somewhere to turn.’
‘I understand that it may not impact long-term outcomes but it is hugely beneficial mentally compared to the alternative of being left completely on your own.’
‘[I value the] ability to access top class care at short notice in the event of issues’
‘[Being part of the clinic is] incredibly powerful in terms of coping with the continual mental challenge of being a family with LFS and numerous early-deceased relatives. It is vital to have this help in order to cope.’
‘[The team …] are there should I need them’
However, some families’ distance from the hospital meant that they did not feel GOSH would be a practical primary contact point in case of problems.
‘The ability to contact the team isn’t all that important [for us] because of the distance, GOSH is about 250 miles away so wouldn’t be our first port of call’
With respect to the issue of childhood testing in the context of surveillance, 3/16 respondents said they would not have chosen for their child to have testing, had surveillance not been available. One parent commented that the existence of the surveillance programme had influenced her decision to conceive naturally.
Parents’ experiences of the disease in the family appeared to influence their beliefs about the value of surveillance; there was a theme of concern about what would happen when children aged out of the programme, and ‘what if’ reflections about whether relatives’ outcomes might have been different, had this surveillance been available to them.
‘LFS is terrifying. You feel alone. Adult surveillance is non-existent and alarming in the UK.’
‘[Surveillance] may have helped in other cases.’
‘This is incredibly powerful in terms of coping with the continual mental challenge of being a family with LFS and numerous early-deceased relatives. It is vital to have this help in order to cope. I am deeply alarmed about what happens at age 18 though. Suddenly there will be zero help in the UK...this is our experience as family with adults who have LFS.’
In summary, our work shows that the degree of burden associated with the TP53 surveillance programme is acceptable for children and families and that there appears to be a significant psychological benefit. It is likely that shared-care or local surveillance will be helpful for patients travelling long distances to access this service.
Further work will clarify the longer term impact, aided by the new UK CGG Guidelines.
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