UK families with children with rare chromosome disorders: Changing experiences of diagnosis and counselling (2003‐2013)

• Published in: Clinical genetics Vol. 93; no. 5; pp. 972 - 981
• Main Authors: Szczepura, A., Wynn, S., Searle, B., Khan, A.J., Palmer, T., Biggerstaff, D., Elliott, J., Hultén, M.A.
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01-05-2018
• Subjects: Children; Chromosomes; clinical genetics services; Diagnosis; Empowerment; evidence‐based clinical guidelines; families' experiences; national surveys; patient reported outcomes (PROs); Peer tutoring; rare chromosome disorders; Rare diseases; Support groups; United Kingdom > UK; national surveys; rare chromosome disorders; families' experiences; patient reported outcomes (PROs); evidence-based clinical guidelines; clinical genetics services
• ISSN: 0009-9163; 1399-0004
• DOI: 10.1111/cge.13207

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.
What do surveys of 1158 UK families over a 10‐year period show about changing experiences of pre‐testing, diagnosis, genetics consultation and follow‐up?