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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

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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
Divisions: Faculty of Medicine > Warwick Medical School > Health Sciences > Mental Health and Wellbeing
Faculty of Medicine > Warwick Medical School
Journal or Publication Title: Clinical Genetics
Publisher: Wiley-Blackwell Publishing, Inc.
ISSN: 0009-9163
Official Date: 2018
Dates:
DateEvent
2018Published
10 January 2018Available
15 December 2017Accepted
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
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