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 2 large‐scale surveys, undertaken by the UK RCD Support Group Unique, of these families' experiences over a 10‐year period. Seven stages of the patient journey were examined. From pre‐testing, through diagnosis, genetics consultation, clinical follow‐up and peer support. Overall, 1158 families replied; 36.4% response rate (2003) and 53.6% (2013). Analysis of responses identifies significant differences (P < .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.
Bibliographical noteThis is the peer reviewed version of the following article: Szczepura, A, Wynn, S, Searle, B, Khan, A, Palmer, T, Biggerstaff, D, Elliott, J & Hulten, MA 2018, 'UK Families with Children with Rare Chromosome Disorders: Changing Experiences of Diagnosis and Counseling (2003 to 2013)' Clinical Genetics, vol 93, no. 5, pp. 972-981 , which has been published in final form at https://dx.doi.org/10.1111/cge.13207. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Self-Archiving.
- families' experiences
- evidence‐based clinical guidelines
- patient reported outcomes (PROs)
- national surveys
- rare chromosome disorders
- clinical genetics services
- Faculty Research Centre for Intelligent Healthcare - Professor of Health Technology Assessment
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