Improving rare disease identification and coordinating health and social care priorities

Research output: Contribution to conferencePoster

Abstract

Introduction: Rare diseases, present in <1/2,000 persons with a genetic cause, affect ~5% of the population in Northern Ireland (NI). Following public and stakeholder consultations, a NI Rare Disease Implementation Plan was published stressing 51 key commitments to improve medical and societal challenges specifically associated with rare diseases. Materials and Methods: Mixed methods were employed to seek views from a range of stakeholders to recognise good practice, identify where urgent change is required, and prioritise short/medium/longer term goals for rare diseases in NI. The establishment of our NI Genomic Medicine Centre (2015) and applying multi-omics approaches to improve the speed and accuracy of diagnosis for individuals with rare diseases has revealed important issues. Results: Differences were noted depending on the method of data collection. Common themes consistently included a frequently tortuous path to diagnosis, difficulty finding details for health and social care contacts, and challenges accessing relevant information in suitable formats. Conclusions: Current health and social care systems in NI are not designed to optimise care for rare diseases. The development of our digital integrated care record (http://www.hscboard.hscni.net/encompass/) is offering unprecedented opportunities to integrate effective and sustainable strategies to improve rare disease identification, optimise care and service provision, provide relevant information to individuals living and working with rare diseases, and establish effective multi-disciplinary communication networks. ALC & KK are supported by a PhD studentship from the Department for the Economy. This work was conducted in collaboration with the NI Department of Health, Public Health Agency, and NI Rare Disease Partnership.
Original languageEnglish
Publication statusAccepted - 2018
EventEuropean Conference of Human Genetics 2018 - milan, Italy
Duration: 16 Jun 201819 Jun 2018
https://2018.eshg.org/

Conference

ConferenceEuropean Conference of Human Genetics 2018
CountryItaly
Period16/06/201819/06/2018
Internet address

Fingerprint

Rare Diseases
Northern Ireland
Delivery of Health Care
Referral and Consultation
Public Health
Medicine
Health

Bibliographical note

Katie Brown on QUB system is Katie Kerr.

Keywords

  • rare disease

Cite this

McAneney, H., Miller, J., Crowe, A., Brown, K., McMullan, J., & McKnight, A. (Accepted/In press). Improving rare disease identification and coordinating health and social care priorities. Poster session presented at European Conference of Human Genetics 2018 , Italy.
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title = "Improving rare disease identification and coordinating health and social care priorities",
abstract = "Introduction: Rare diseases, present in <1/2,000 persons with a genetic cause, affect ~5{\%} of the population in Northern Ireland (NI). Following public and stakeholder consultations, a NI Rare Disease Implementation Plan was published stressing 51 key commitments to improve medical and societal challenges specifically associated with rare diseases. Materials and Methods: Mixed methods were employed to seek views from a range of stakeholders to recognise good practice, identify where urgent change is required, and prioritise short/medium/longer term goals for rare diseases in NI. The establishment of our NI Genomic Medicine Centre (2015) and applying multi-omics approaches to improve the speed and accuracy of diagnosis for individuals with rare diseases has revealed important issues. Results: Differences were noted depending on the method of data collection. Common themes consistently included a frequently tortuous path to diagnosis, difficulty finding details for health and social care contacts, and challenges accessing relevant information in suitable formats. Conclusions: Current health and social care systems in NI are not designed to optimise care for rare diseases. The development of our digital integrated care record (http://www.hscboard.hscni.net/encompass/) is offering unprecedented opportunities to integrate effective and sustainable strategies to improve rare disease identification, optimise care and service provision, provide relevant information to individuals living and working with rare diseases, and establish effective multi-disciplinary communication networks. ALC & KK are supported by a PhD studentship from the Department for the Economy. This work was conducted in collaboration with the NI Department of Health, Public Health Agency, and NI Rare Disease Partnership.",
keywords = "rare disease",
author = "Helen McAneney and Jane Miller and Ashleen Crowe and Katie Brown and Julie McMullan and Amy McKnight",
note = "Katie Brown on QUB system is Katie Kerr.; European Conference of Human Genetics 2018 ; Conference date: 16-06-2018 Through 19-06-2018",
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McAneney, H, Miller, J, Crowe, A, Brown, K, McMullan, J & McKnight, A 2018, 'Improving rare disease identification and coordinating health and social care priorities', European Conference of Human Genetics 2018 , Italy, 16/06/2018 - 19/06/2018.

Improving rare disease identification and coordinating health and social care priorities. / McAneney, Helen; Miller, Jane; Crowe, Ashleen; Brown, Katie; McMullan, Julie; McKnight, Amy.

2018. Poster session presented at European Conference of Human Genetics 2018 , Italy.

Research output: Contribution to conferencePoster

TY - CONF

T1 - Improving rare disease identification and coordinating health and social care priorities

AU - McAneney, Helen

AU - Miller, Jane

AU - Crowe, Ashleen

AU - Brown, Katie

AU - McMullan, Julie

AU - McKnight, Amy

N1 - Katie Brown on QUB system is Katie Kerr.

PY - 2018

Y1 - 2018

N2 - Introduction: Rare diseases, present in <1/2,000 persons with a genetic cause, affect ~5% of the population in Northern Ireland (NI). Following public and stakeholder consultations, a NI Rare Disease Implementation Plan was published stressing 51 key commitments to improve medical and societal challenges specifically associated with rare diseases. Materials and Methods: Mixed methods were employed to seek views from a range of stakeholders to recognise good practice, identify where urgent change is required, and prioritise short/medium/longer term goals for rare diseases in NI. The establishment of our NI Genomic Medicine Centre (2015) and applying multi-omics approaches to improve the speed and accuracy of diagnosis for individuals with rare diseases has revealed important issues. Results: Differences were noted depending on the method of data collection. Common themes consistently included a frequently tortuous path to diagnosis, difficulty finding details for health and social care contacts, and challenges accessing relevant information in suitable formats. Conclusions: Current health and social care systems in NI are not designed to optimise care for rare diseases. The development of our digital integrated care record (http://www.hscboard.hscni.net/encompass/) is offering unprecedented opportunities to integrate effective and sustainable strategies to improve rare disease identification, optimise care and service provision, provide relevant information to individuals living and working with rare diseases, and establish effective multi-disciplinary communication networks. ALC & KK are supported by a PhD studentship from the Department for the Economy. This work was conducted in collaboration with the NI Department of Health, Public Health Agency, and NI Rare Disease Partnership.

AB - Introduction: Rare diseases, present in <1/2,000 persons with a genetic cause, affect ~5% of the population in Northern Ireland (NI). Following public and stakeholder consultations, a NI Rare Disease Implementation Plan was published stressing 51 key commitments to improve medical and societal challenges specifically associated with rare diseases. Materials and Methods: Mixed methods were employed to seek views from a range of stakeholders to recognise good practice, identify where urgent change is required, and prioritise short/medium/longer term goals for rare diseases in NI. The establishment of our NI Genomic Medicine Centre (2015) and applying multi-omics approaches to improve the speed and accuracy of diagnosis for individuals with rare diseases has revealed important issues. Results: Differences were noted depending on the method of data collection. Common themes consistently included a frequently tortuous path to diagnosis, difficulty finding details for health and social care contacts, and challenges accessing relevant information in suitable formats. Conclusions: Current health and social care systems in NI are not designed to optimise care for rare diseases. The development of our digital integrated care record (http://www.hscboard.hscni.net/encompass/) is offering unprecedented opportunities to integrate effective and sustainable strategies to improve rare disease identification, optimise care and service provision, provide relevant information to individuals living and working with rare diseases, and establish effective multi-disciplinary communication networks. ALC & KK are supported by a PhD studentship from the Department for the Economy. This work was conducted in collaboration with the NI Department of Health, Public Health Agency, and NI Rare Disease Partnership.

KW - rare disease

M3 - Poster

ER -

McAneney H, Miller J, Crowe A, Brown K, McMullan J, McKnight A. Improving rare disease identification and coordinating health and social care priorities. 2018. Poster session presented at European Conference of Human Genetics 2018 , Italy.