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    Rights statement: This is the peer reviewed version of the following article: Szczepura A, Wynn S, Searle B, et al. UK families with children with rare chromosome disorders: Changing experiences of diagnosis and counselling (2003‐2013). Clin Genet. 2018;93:972–981. https://doi.org/10.1111/cge.13207 which has been published in final form at http://onlinelibrary.wiley.com/doi/10.1111/cge.13207/abstract This article may be used for non-commercial purposes in accordance With Wiley Terms and Conditions for self-archiving.

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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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UK Families with Children with Rare Chromosome Disorders : Changing Experiences of Diagnosis and Counseling (2003 to 2013). / Szczepura, Ala; Wynn, Sarah; Searle, Beverly; Khan, Amir; Palmer, Thomas Michael; Biggerstaff, Deborah; Elliott, Josh; Hulten, Maj.

In: Clinical Genetics, Vol. 93, No. 5, 05.2018, p. 972-981.

Research output: Contribution to journalJournal articlepeer-review

Harvard

Szczepura, A, Wynn, S, Searle, B, Khan, A, Palmer, TM, Biggerstaff, D, Elliott, J & Hulten, M 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. https://doi.org/10.1111/cge.13207

APA

Szczepura, A., Wynn, S., Searle, B., Khan, A., Palmer, T. M., Biggerstaff, D., Elliott, J., & Hulten, M. (2018). UK Families with Children with Rare Chromosome Disorders: Changing Experiences of Diagnosis and Counseling (2003 to 2013). Clinical Genetics, 93(5), 972-981. https://doi.org/10.1111/cge.13207

Vancouver

Author

Szczepura, Ala ; Wynn, Sarah ; Searle, Beverly ; Khan, Amir ; Palmer, Thomas Michael ; Biggerstaff, Deborah ; Elliott, Josh ; Hulten, Maj. / UK Families with Children with Rare Chromosome Disorders : Changing Experiences of Diagnosis and Counseling (2003 to 2013). In: Clinical Genetics. 2018 ; Vol. 93, No. 5. pp. 972-981.

Bibtex

@article{f3316971c9b641998fa6db6fb0e28ccb,
title = "UK Families with Children with Rare Chromosome Disorders: Changing Experiences of Diagnosis and Counseling (2003 to 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.",
author = "Ala Szczepura and Sarah Wynn and Beverly Searle and Amir Khan and Palmer, {Thomas Michael} and Deborah Biggerstaff and Josh Elliott and Maj Hulten",
note = "This is the peer reviewed version of the following article: Szczepura A, Wynn S, Searle B, et al. UK families with children with rare chromosome disorders: Changing experiences of diagnosis and counselling (2003‐2013). Clin Genet. 2018;93:972–981. https://doi.org/10.1111/cge.13207 which has been published in final form at http://onlinelibrary.wiley.com/doi/10.1111/cge.13207/abstract This article may be used for non-commercial purposes in accordance With Wiley Terms and Conditions for self-archiving.",
year = "2018",
month = may,
doi = "10.1111/cge.13207",
language = "English",
volume = "93",
pages = "972--981",
journal = "Clinical Genetics",
issn = "0009-9163",
publisher = "Wiley-Blackwell",
number = "5",

}

RIS

TY - JOUR

T1 - UK Families with Children with Rare Chromosome Disorders

T2 - Changing Experiences of Diagnosis and Counseling (2003 to 2013)

AU - Szczepura, Ala

AU - Wynn, Sarah

AU - Searle, Beverly

AU - Khan, Amir

AU - Palmer, Thomas Michael

AU - Biggerstaff, Deborah

AU - Elliott, Josh

AU - Hulten, Maj

N1 - This is the peer reviewed version of the following article: Szczepura A, Wynn S, Searle B, et al. UK families with children with rare chromosome disorders: Changing experiences of diagnosis and counselling (2003‐2013). Clin Genet. 2018;93:972–981. https://doi.org/10.1111/cge.13207 which has been published in final form at http://onlinelibrary.wiley.com/doi/10.1111/cge.13207/abstract This article may be used for non-commercial purposes in accordance With Wiley Terms and Conditions for self-archiving.

PY - 2018/5

Y1 - 2018/5

N2 - 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.

AB - 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.

U2 - 10.1111/cge.13207

DO - 10.1111/cge.13207

M3 - Journal article

VL - 93

SP - 972

EP - 981

JO - Clinical Genetics

JF - Clinical Genetics

SN - 0009-9163

IS - 5

ER -