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UK families with children with rare chromosome disorders : changing experiences of diagnosis and counseling (2003 to 2013)
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Szczepura, A., Wynn, S., Searle, B., Khan, A. J., Palmer, T., Biggerstaff, D., Elliott, J. and Hultén, M. A. (2018) UK families with children with rare chromosome disorders : changing experiences of diagnosis and counseling (2003 to 2013). Clinical Genetics, 93 . pp. 972-981. doi:10.1111/cge.13207
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Official URL: http://dx.doi.org/10.1111/cge.13207
Abstract
The latest United Kingdom (UK) strategy for rare diseases emphasises the need to empower affected populations to improve diagnosis, intervention, and coordination of care. Families who have a child with a rare chromosome disorder (RCD) are a challenging group to include. We report the findings of two large-scale surveys, undertaken by the UK RCD Support Group Unique, of these families’ experiences over a ten year period. Seven stages of the patient journey were examined. From pre-testing, through diagnosis, genetics consultation, clinical follow-up and peer support. Overall, 1,158 families replied; 36.4% response rate (2003) and 53.6% (2013). Analysis of responses identifies significant differences (p<0.001) over time with a decrease in results reported face-to-face (76-62%), doubling by telephone (12-22%), improved explanation of chromosome disorder (57-75%), and increased signposting to peer support group (34-62%). However, conduct of the consultation raises a number of important questions. Overall, 28 aspects of the patient journey are recognised as requiring improvement; only 12/28 are currently incorporated in UK service specifications. Involvement of RCD families has identified key service improvements. This approach can empower those affected by such extremely rare disorders, and also enable professionals to design improved services in partnership with ‘expert families’. Further surveys are planned.
| Item Type: | Journal Article | ||||||||
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| Divisions: | Faculty of Medicine > Warwick Medical School > Health Sciences > Mental Health and Wellbeing Faculty of Medicine > Warwick Medical School |
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| Journal or Publication Title: | Clinical Genetics | ||||||||
| Publisher: | Wiley-Blackwell Publishing, Inc. | ||||||||
| ISSN: | 0009-9163 | ||||||||
| Official Date: | 2018 | ||||||||
| Dates: |
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| Date of first compliant deposit: | 9 May 2018 | ||||||||
| Volume: | 93 | ||||||||
| Page Range: | pp. 972-981 | ||||||||
| DOI: | 10.1111/cge.13207 | ||||||||
| Status: | Peer Reviewed | ||||||||
| Publication Status: | Published | ||||||||
| Access rights to Published version: | Restricted or Subscription Access | ||||||||
| Related URLs: |
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