Review, development and evaluation of two new services for potential implementation within the All Wales Medical Genomics Service (AWMGS) for patient benefit.

  • Michelle Wood

Student thesis: Unknown


In July 2017, the Welsh government published The genomics for precision medicine strategy (Welsh Government 2017). The strategy outlines the principles and actions of a 5-10-year plan for genomics services in Wales including the principle to develop internationally-recognised medical and public health genomics services in Wales that are innovative, responsive and well-connected to the major genetics and genomics initiatives that are evolving worldwide (Welsh Government 2017). It is important that genomic healthcare laboratories keep up to-date with the latest technological advances and genomic research in order to rapidly translate such research into clinical practice. In the last few years, technologies such as whole exome sequencing and whole genome sequencing have become more affordable and are now routinely used within NHS genomic laboratories for the diagnosis of rare disease and cancer. There have been several new and exciting service developments in the last few years within the All Wales Medical Genomics Service (AWMGS) including the introduction of a national service for non-invasive prenatal testing (NIPT) for aneuploidies and the use of whole genome sequencing to rapidly diagnose acutely unwell children as part of the Wales Infants and Childrens Genome Service (WINGS). The aim of these services is to reduce the time taken for a diagnosis, plan specific care for patients, and to reduce harm or potential harm to patients. The aim of this study was to evaluate two new potential genomic services that have been reported to show patient benefit. In the first part of this project a non-invasive prenatal diagnosis (NIPD) assay was designed using next generation sequencing (NGS) technology in conjunction with the relative haplotype dosage (RHDO) method. The panel was designed to detect fetal inheritance of X-linked Ectodermal dysplasia (XHED) but also included other monogenic disorders in which early diagnosis would influence either pregnancy management or neonatal clinical management. This study highlighted a number of barriers to implement NIPD service in NHS Wales, including the high cost of the analysis due to the expected low referral rate of at-risk pregnancies. In the second part of the project, a pharmacogenomic service was evaluated. In this study, a possible platform for an NHS Wales pharmacogenomic multi-gene panel was tested and the feasibility for introducing such a test at the current time was examined. Presentation of our proposal for a Welsh pharmacogenomic panel to the Genomic Partnership Wales (GPW) patient and public sounding board identified a number of ethical issues and concerns that would need to be addressed in the Welsh pharmacogenomic strategy. These two services are both examples of prudent healthcare, a key strategy of NHS Wales, by reducing unnecessary tests/procedures or treatments that may result in harm to patients. This study has shown how genomic laboratories have to adapt to changing situations and technologies and how laboratory service delivery priorities can change overtime. Some of the barriers and facilitators to implement these two new genetic services are highlighted in this study.
Date of Award31 Dec 2022
Original languageEnglish
Awarding Institution
  • The University of Manchester
SupervisorAlexander Heazell (Supervisor)

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