C. S. Lewis

Rayner, Samantha J.; Searle, Alison

doi:10.7202/1060977ar

Cited by 2 publications

(2 citation statements)

References 9 publications

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“…Moreover, our findings echo many of the concerns raised previously by health professionals in the UK recruiting for the 100,000 Genomes Project. These include concern that WGS has not been demonstrated to be superior to exome sequencing for certain rare diseases, concerns around the time required to seek consent from patients, and concerns about whether adequate resources are in place to deliver a WGS service in a timely way (Sanderson et al, 2019). Regarding the superiority of WGS over exome sequencing, the issue is complex as WGS has the potential to improve diagnostic yield over exome sequencing through improved coverage of economic regions, ability to detect variants in non-coding regions and the mitochondrial genome, Frontiers in Genetics frontiersin.org expansion variants, as well as more robust detection of some structural variants (Mattick et al, 2018).…”

Section: Discussionmentioning

confidence: 99%

“A very big challenge”: a qualitative study to explore the early barriers and enablers to implementing a national genomic medicine service in England

Friedrich,

Vindrola-Padros,

Lucassen

et al. 2024

Front. Genet.

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Background: The Genomic Medicine Service (GMS) was launched in 2018 in England to create a step-change in the use of genomics in the NHS, including offering whole genome sequencing (WGS) as part of routine care. In this qualitative study on pediatric rare disease diagnosis, we used an implementation science framework to identify enablers and barriers which have influenced rollout.Methods: Semi-structured interviews were conducted with seven participants tasked with designing the GMS and 14 tasked with leading the implementation across the seven Genomic Medicine Service Alliances (GMSAs) and/or Genomic Laboratory Hubs (GLHs) between October 2021 and February 2022.Results: Overall, those involved in delivering the service strongly support its aims and ambitions. Challenges include: 1) concerns around the lack of trained and available workforce (clinicians and scientists) to seek consent from patients, interpret findings and communicate results; 2) the lack of a digital, coordinated infrastructure in place to support and standardize delivery with knock-on effects including onerous administrative aspects required to consent patients and order WGS tests; 3) that the “mainstreaming agenda”, whilst considered important, encountered reluctance to become engaged from those who did not see it as a priority or viewed it as being politically rather than clinically driven; 4) the timelines and targets set for the GMS were perceived by some as too ambitious. Interviewees discussed local adaptations and strategies employed to address the various challenges they had encountered, including 1) capacity-building, 2) employing genomic associates and other support staff to support the consent and test ordering process, 3) having “genomic champions” embedded in mainstream services to impart knowledge and best practice, 4) enhancing collaboration between genetic and mainstream specialties, 5) building evaluation into the service and 6) co-creating services with patients and the public.Conclusion: Our findings highlight the challenges of implementing system-wide change within a complex healthcare system. Local as well as national solutions can undoubtedly address many of these barriers over time.

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Section: Discussionmentioning

confidence: 99%

“A very big challenge”: a qualitative study to explore the early barriers and enablers to implementing a national genomic medicine service in England

Friedrich,

Vindrola-Padros,

Lucassen

et al. 2024

Front. Genet.

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“…Handling variants of unknown significance is one such challenge (Biesecker, 2012;Hellwig et al, 2019), as is other types of decision support design (Yaung and Pek, 2021;Kulchak Rahm et al, 2021). Effective reporting is another area in focus, both to ordering physician and to patients (Biesecker (2012); Wynn et al, 2018;Sanderson et al, 2019). Tools for collaboration and knowledge sharing between geneticists have also been studied (Liang, 2017).…”

Section: Visualization For Genomicsmentioning

confidence: 99%

The thorny complexities of visualization research for clinical settings: A case study from genomics

et al. 2023

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In this perspective article we discuss a certain type of research on visualization for bioinformatics data, namely, methods targeting clinical use. We argue that in this subarea additional complex challenges come into play, particularly so in genomics. We here describe four such challenge areas, elicited from a domain characterization effort in clinical genomics. We also list opportunities for visualization research to address clinical challenges in genomics that were uncovered in the case study. The findings are shown to have parallels with experiences from the diagnostic imaging domain.

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C. S. Lewis

Abstract: This essay uses unpublished archival material to explore what this reveals about the commissioning, gestation, editing, and publishing of several key works of literary criticism by C.

Cited by 2 publications

References 9 publications

“A very big challenge”: a qualitative study to explore the early barriers and enablers to implementing a national genomic medicine service in England

“A very big challenge”: a qualitative study to explore the early barriers and enablers to implementing a national genomic medicine service in England

The thorny complexities of visualization research for clinical settings: A case study from genomics

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