Barwell, J; Snape, K; Wedderburn, S
(2019)
The new genomic medicine service and implications for patients.
Clin Med (Lond), 19 (4).
pp. 273-277.
ISSN 1473-4893
https://doi.org/10.7861/clinmedicine.19-4-273
SGUL Authors: Snape, Katie Mairwen Greenwood
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Abstract
In January 2019, a new nationally commissioned Genomic Medicine Service (GMS) has now commenced in the NHS. Capitalising on the infrastructure developed through the 100,000 Genomes Project, the GMS is underpinned by seven supra-regional Genomic Laboratory Hubs (GLHs) delivering the new inherited rare disease and cancer somatic tissue genetic test directory. This replaces the UKGTN test directory, with the aim of standardising criteria for whole genome sequencing or targeted panel tests where applicable. The new test directory will define who can order specific genetic tests under prescribed eligibility criteria. In keeping with Dame Sally Davies' white paper Generation Genome, this will further democratise genetic testing and, in some situations, avoid the need to refer to clinical genetics to access testing. The aim is to simplify patient pathways and reduce regional or social inequalities. We will discuss the implications of whole genome sequencing and the potential impact of the new nationally commissioned GMS for both patients, their relatives and clinicians. We will also discuss the imminent challenges in implementing genomic medicine into the NHS, and the future impact of novel technologies on service delivery as genomic medicine becomes increasingly integrated into routine healthcare.
Item Type: | Article | ||||
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Additional Information: | © Royal College of Physicians 2019. All rights reserved. | ||||
Keywords: | Genomic Medicine Service, devolved nations, Genomic Medicine Service, devolved nations, 1103 Clinical Sciences, General Clinical Medicine | ||||
SGUL Research Institute / Research Centre: | Academic Structure > Molecular and Clinical Sciences Research Institute (MCS) Academic Structure > Molecular and Clinical Sciences Research Institute (MCS) > Cell Sciences (INCCCS) |
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Journal or Publication Title: | Clin Med (Lond) | ||||
ISSN: | 1473-4893 | ||||
Language: | eng | ||||
Dates: |
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Publisher License: | Publisher's own licence | ||||
PubMed ID: | 31308102 | ||||
Web of Science ID: | WOS:000475493500004 | ||||
Go to PubMed abstract | |||||
URI: | https://openaccess.sgul.ac.uk/id/eprint/111092 | ||||
Publisher's version: | https://doi.org/10.7861/clinmedicine.19-4-273 |
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