IBMS Congress 2025

CtDNA in patient care: The risks and the rewards

1pm – 1.30pm BST, 22 September 2025 ‐ 30 mins

Genomics and Molecular Pathology

Learning outcomes

Delegates attending this presentation will:

• Understand the potential clinical utility of ctDNA testing in patient care
• Understand the pathway from sample collection to report, potential risks and how these can impact patient care
• Recognise the relative benefits to consider during assay selection
• Future development of liquid biopsy with and beyond ctDNA

Unified metagenomic method for rapid detection of microorganisms in clinical samples

1.30pm – 2pm BST, 22 September 2025 ‐ 30 mins

Genomics and Molecular Pathology

Learning outcomes

This presentation will cover:

• Human DNA depletion for increasing sensitivity and reducing the TAT
• Detection of RNA and DNA microorganisms
• One sample, one test for detection of any type of microorganisms

Speakers

Dr Adela Alcolea-Medina

Lead - Next Generation Sequencing, Synnovis - Guy’s and St Thomas’ Hospital

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Optimising FLT3-ITD NGS for measurable residual disease detection in AML

2pm – 2.30pm BST, 22 September 2025 ‐ 30 mins

Genomics and Molecular Pathology

Learning outcomes

Delegates who attend this presentation will:

• Evaluate Detection Methods: Understand the strengths and limitations of fragment analysis versus NGS for FLT3-ITD detection.
• Method Selection: Determine the appropriate FLT3-ITD detection method for each MRD monitoring stage.
• Recognize Limitations: Identify challenges and limitations in MRD monitoring using FLT3-ITD as a marker.

New strain identification

2.30pm – 3pm BST, 22 September 2025 ‐ 30 mins

Genomics and Molecular Pathology

Homologous recombination deficiency (HRD) – Significance and clinical implications

3.45pm – 4.15pm BST, 22 September 2025 ‐ 30 mins

Genomics and Molecular Pathology

Abstract

Homologous recombination deficiency (HRD) has emerged as a critical biomarker in oncology, reflecting defects in the DNA repair pathway that contribute to genomic instability, cancer development, and treatment response.

HRD is particularly significant in cancers such as ovarian, breast, prostate, and pancreatic, where targeted therapies, such as PARP inhibitors, have shown clinical benefit. In practice, several methodologies and technologies are available to assess HRD status, with varying sensitivity and specificity. The National Genomic Test Directory (NGTD) mandates HRD testing across all Genomic Laboratory Hubs in England. At the South East GLH, we undertook an extensive validation process for a newly implemented, comprehensive next generation sequencing (NGS) panel. Comparative analysis with orthogonal assays and whole genome sequencing demonstrated acceptable concordance levels, supporting its clinical adoption. Crucially, assessment of HRD status beyond BRCA1/2 mutations is now pivotal for prescribing PARP inhibitors in ovarian and prostate cancers within England.

The talk will also address mechanisms of resistance to PARP inhibitors, an emerging challenge in clinical practice, and discuss how advancements in HRD testing may refine patient selection and guide future treatment strategies.

Learning outcomes

Delegates attending this presentation will:

• Understand the concept of HRD and its biological significance.
• Explore current techniques and technologies used to detect HRD.
• Assess the role of HRD testing in guiding treatment decisions and patient care.
• Consider emerging trends and advancements in HRD testing for future implementation.     

Speakers

Dr Katya Mokretar PhD, DipRCPath, FIBMS

AML-MRD Team Lead, Deputy Operations Lead, Synnovis Analytics

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Exciting developments in spinal muscular atrophy (SMA): From testing to therapeutic treatment

4.15pm – 4.45pm BST, 22 September 2025 ‐ 30 mins

Genomics and Molecular Pathology

Abstract

SMA as a genetic disease, the complexity of the gene and how this relates to testing, different testing methods, the different therapies now available and the difference this makes for patients.

Learning outcomes

Delegates will learn:

• how a multidisciplinary urgent service works end to end
• the difference a test can make to providing a service
• knowledge of one of the most common neurological diseases

PHW Genomic Programme

4.45pm – 5.15pm BST, 22 September 2025 ‐ 30 mins

Genomics and Molecular Pathology