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. 2022 Jun 21;13(7):1104.
doi: 10.3390/genes13071104.

A Formative Study of the Implementation of Whole Genome Sequencing in Northern Ireland

Katie Kerr  1   2 , Caoimhe McKenna  1   2 , Shirley Heggarty  3 , Caitlin Bailie  1 , Julie McMullan  1 , Ashleen Crowe  1 , Jill Kilner  1 , Michael Donnelly  1 , Saralynne Boyle  1 , Gillian Rea  2 , Cheryl Flanagan  2 , Shane McKee  1   2 , Amy Jayne McKnight  1   2
Affiliations

A Formative Study of the Implementation of Whole Genome Sequencing in Northern Ireland

Katie Kerr et al. Genes (Basel). .

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 informants who were involved in the delivery of WGS and (4) a workshop discussion about interprofessional collaboration with respect to molecular diagnostics. Results: We engaged with >400 participants, with detailed reflections obtained from 74 participants including patients, caregivers, key National Health Service (NHS) informants, and researchers (patient survey n = 42; semi-structured interviews n = 19; attendees of the discussion workshop n = 13). Overarching themes included the need to improve rare disease awareness, education, and support services, as well as interprofessional collaboration being central to an effective, mainstreamed molecular diagnostic service. Conclusions: Recommendations for streamlining precision medicine for patients with rare diseases include administrative improvements (e.g., streamlining of the consent process), educational improvements (e.g., rare disease training provided from undergraduate to postgraduate education alongside genomics training for non-genetic specialists) and analytical improvements (e.g., multidisciplinary collaboration and improved computational infrastructure).

Keywords: collaboration; genomics; multiomics; public health; rare disease.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Project implementation overview. Abbreviations: multidisciplinary team (MDT), medical research council (MRC), National Health Service (NHS), Northern Ireland (NI) whole genome sequencing (WGS), United Kingdom (UK).
Figure 2
Figure 2
Summary of the workflow and recommendations for future implementation of WGS in NI. Abbreviations: American College of Medical Genetics (ACMG), Copy number variants, (CNV) Genomics England (GEL), multidisciplinary team (MDT), variant(s) of unknown significance (VUS), whole genome sequencing (WGS).
Figure 3
Figure 3
Patient voices about (A) what information would be useful to receive at diagnosis and (B) the need for improved communication regarding WGS results.
Figure 4
Figure 4
Participant understanding of multiomics terminology.
Figure 5
Figure 5
HCP voices about (A) the importance of WGS for rare disease diagnostics, (B) workload burden of WGS and difficulties in the consenting process, (C) participant concerns regarding WGS and (D) the need for additional training on molecular diagnostics for rare disease.
Figure 5
Figure 5
HCP voices about (A) the importance of WGS for rare disease diagnostics, (B) workload burden of WGS and difficulties in the consenting process, (C) participant concerns regarding WGS and (D) the need for additional training on molecular diagnostics for rare disease.
Figure 6
Figure 6
Summary of central themes identified from survey, interviews, and workshop.
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