2022
DOI: 10.3390/genes13071104
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A Formative Study of the Implementation of Whole Genome Sequencing in Northern Ireland

Abstract: Background: The UK 100,000 Genomes Project was a transformational research project which facilitated whole genome sequencing (WGS) diagnostics for rare diseases. We evaluated experiences of introducing WGS in Northern Ireland, providing recommendations for future projects. Methods: This formative evaluation included (1) an appraisal of the logistics of implementing and delivering WGS, (2) a survey of participant self-reported views and experiences, (3) semi-structured interviews with healthcare staff as key in… Show more

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Cited by 2 publications
(1 citation statement)
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“…Devastatingly, 30% of patients with a rare disease die before reaching their fifth birthday [5]. Patients with rare diseases often face difficulties obtaining a diagnosis, with an average waiting time reported in Europe of 5 years [6][7][8]. Diagnosing a rare condition is complicated by the heterogeneous nature of these conditions, as well as the large number of rare diseases, which poses a challenge to healthcare professionals (HCPs) [9,10].…”
Section: Introductionmentioning
confidence: 99%
“…Devastatingly, 30% of patients with a rare disease die before reaching their fifth birthday [5]. Patients with rare diseases often face difficulties obtaining a diagnosis, with an average waiting time reported in Europe of 5 years [6][7][8]. Diagnosing a rare condition is complicated by the heterogeneous nature of these conditions, as well as the large number of rare diseases, which poses a challenge to healthcare professionals (HCPs) [9,10].…”
Section: Introductionmentioning
confidence: 99%