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

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 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.

Enfermedades raras y trayectorias terapéuticas de pacientes: ¿qué sabemos hoy?

“…Dheensa et al identificaron que la motivación de personas con ER para participar del 'Proyecto 1000 genomas' fue la oportunidad de obtener un diagnóstico a través de WGS, sin embargo, reconocían que esa probabilidad era muy baja 64 . Otras investigaciones sobre el uso de técnicas genómicas para el diagnóstico de ER han permitido el avance en diagnósticos, sin embargo, estos estudios pueden crear falsas expectativas en pacientes sobre obtener un diagnóstico definitivo 65 , por lo que es necesario contar con estrategias de educación genómica 65 , acompañamiento y orientación a los padres previo a las pruebas genéticas 66 .…”