Events during September 2023

An overview of how Bioinformatics has developed within Anthony Nolan, it's key projects and its impact moving forward. Areas covered will include:

A brief overview of Bioinformatics
Using Bioinformatics at Anthony Nolan;
The IPD reference Databases, in particular the IPD-IMGT/HLA Database
Population genetics of the HLA register
An insight into HLA sequencing and clinical impact
The future of bioinformatics at Anthony Nolan

Molecular testing is now part of the standard of care pathway for many types of solid tumours with new tests being required to be introduced into laboratories quite rapidly. As part of the quality process external quality assessment (EQA) is required to ensure that the results obtained in this testing are accurate.

This talk will provide an overview of how EQAs for molecular pathology are delivered, summarise the results for some of these EQAs highlighting some of the issues observed. It will also highlight some of the different technologies used for testing and how reporting of results is assessed in the EQAs

The South East Genomic Laboratory Hub provides genetic and genomic testing for 19 acute NHS Trusts and 9 non-acute NHS Trusts in the South London, Kent, Surrey and Sussex region. Within the solid tumours service, we process DNA and RNA from patients with a range of cancer types and analyse them using next generation sequencing (NGS) assays.

Once the variants within a patient’s sample are identified, Clinical Scientists review them and consider what impact they would have on the function on the protein encoded by that gene. Through a process called somatic variant interpretation, the variant will be classified according to its clinical significance in relation to providing diagnostic, prognostic, or therapeutic information.

Some examples of the utility of this service include identification of:

resistance variants in EGFR within the tumours of patients with non-small cell lung cancer, providing the clinician with information to support a change to the patient’s treatment.
gene rearrangements involving TMPRSS2 can support a diagnosis of prostate cancer.
certain variants in POLE within the tumours of patients with endometrial cancer can classify their tumour into a subgroup which is associated with an excellent prognosis

Transforming diagnostic services - from policy to implementation

NHS Long Term Workforce Plan

Diagnostic services are a fundamental aspect of modern healthcare delivery. Clinical pathways can only function properly with sufficient capacity to turnaround diagnostic tests, procedures, and reports in a timely manner. Large backlogs of diagnostic procedures hold NHS Wales back from making improvements in referral to treatment times, impair screening pathway effectiveness, result in poor patient experience, and have the potential to result in harms and poorer outcomes. COVID-19 has not gone away, and alongside the effects of global changes in behaviours and other factors, it will continue to present new and emerging challenges that must be addressed to drive improvement and deliver safe, sustainable services for the people of Wales.

The NHS Wales Diagnostics Recovery and Transformation strategy is aimed at leading and co-ordinating supportive actions to aid recovery of diagnostic services post-pandemic and ensure that our interventions implemented in the immediate term align with foreseeable future demand, and shift towards optimised delivery models as the foundation on long-term sustainable transformation. Importantly, the strategy will seek to improve outcomes for patients and reduce pressure on secondary care enabling earlier, faster detection of disease. It sets out the immediate priorities and objectives for diagnostics in NHS Wales, and how it intends to deliver against the extraordinarily challenging needs of now, but with one eye on future need and the challenges that are yet to come.

NHSE Diagnostic Transformation - progress to date and future ambition

Pathology Services in the Northern Ireland Health and Social Care (HSC) system face a range of challenges including increasing demand, recruitment and retention, aging information systems, rapidly evolving technology and changing quality requirements. The Northern Ireland Department of Health’s vision is for the delivery of modern, sustainable, world-class Pathology services through a single, regional HSC Pathology Services delivery vehicle capable of supporting safe, effective delivery of Clinical Services into the future for HSC Patients.

Stakeholder engagement and participation is viewed as critical for successful delivery of the Department’s vision. This presentation will describe how the Northern Ireland Health and Social Care (HSC) system is enabling Pathology stakeholders to design a preferred operating model for a regional Pathology Management Structure that will deliver key benefits for HSC Patients and Service Users, the Pathology Workforce, Pathology Managers and the wider HSC system. It will briefly describe complimentary programmes to implement new regional Pathology Information Management Systems, and implement a regional Workforce and Training Plan.

This presentation will focus primarily on one discipline, cellular pathology, complimentary transformational projects of work will be explored including digital pathology and advancement of the biomedical scientist workforce.

Pathology Network Maturity - meeting the NHS Long Term Plan objective