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

Abstract

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.

Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals’ views and experiences

“…Improvements to IT systems could also facilitate the various processes involved in sharing documentation with the labs and monitoring test status. Similar approaches to improve efficiency have been suggested in recent research looking at offering whole genome sequencing in the NHS GMS ( Friedrich et al, 2023 ).…”

“…Improvements to IT systems could also facilitate the various processes involved in sharing documentation with the labs and monitoring test status. Similar approaches to improve efficiency have been suggested in recent research looking at offering whole genome sequencing in the NHS GMS (Friedrich et al, 2023). Some professionals questioned the use of a restricted panel of genes for pES analysis, preferring a more agnostic approach to testing that would optimise the clinical potential of pES.…”

Bridging the Divide – a Review on the Implementation of Personalized Cancer Medicine

“…In the European context several large scale national infrastructures are worth mentioning such as SciLifeLab and Genomics Medicine Sweden [106] and Genomics Medicine England [107].…”

Bridging the Divide: A Review on the Implementation of Personalized Cancer Medicine

“…This infrastructure not only expedites the identification of actionable genomic alterations but also provides real-time support for clinical decision-making, ultimately leading to improved patient outcomes ( Table 3 ). In the European context, several large-scale national infrastructures are worth mentioning, such as Science for Life Laboratory and Genomics Medicine Sweden [ 138 ], and Genomics Medicine England [ 139 ].…”