Variation Exists in Service Delivery: Similarities and Differences in the Provision of a Whole Genome Sequencing Service for Paediatric Rare Disease Patients in the National Health Service in England
Recommendations include developing standard operating procedures and hiring healthcare professionals responsible for facilitating consent alongside administrative aspects. These would reduce the burden on clinical geneticists and improve turnaround times as well as contribute to streamlining and standardisation of the service.
Authors
- Celine Lewis (ORCID: https://orcid.org/0000-0001-7169-1521)
- Amanda Pichini (ORCID: https://orcid.org/0000-0002-1776-562X)
- Melissa K. Hill (ORCID: https://orcid.org/0000-0003-3900-1425)
- Angus John Clarke (ORCID: https://orcid.org/0000-0002-1200-9286)
- Christine Patch (ORCID: https://orcid.org/0000-0002-4191-0663)
- Sinead Whyte
- Nastazja Monika Laskowski
Institutions
- Great Ormond Street Hospital (GB)
- Children's Health Ireland at Crumlin (IE)
- Wellcome Connecting Science (GB)
- Genomics England (GB)
- University College London (GB)
- Cardiff University (GB)
Publication Details
- Journal
- Public Health Genomics
- Published
- 2024-11-08
- DOI
- https://doi.org/10.1159/000542027
- Citations
- 3
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 1.65
Funders
- National Institute for Health and Care Research
- Department of Health and Social Care