Events during September 2023

Delegates attending this presentation will:

Receive an overview of the clinical history of MMR/Lynch Syndrome, EQA and data from UK NEQAS ICC & ISH
Gain a better understanding of the importance of MMR testing and the UK NEQAS ICC & ISH assessment process.
The presentation will also focus on acceptable and not acceptable tests, and the importance of ideal controls.

Managing change with compassion

Join your network workforce leads/practice educators for a solution focused discussion around workforce challenges. Find out about current education and development opportunities with specific emphasis on support workers, advanced clinical practice and leadership. We welcome your participation in helping to shape the future of your pathology workforce.

You are invited by the speakers to complete this online form before the presentation

Idiopathic Membranous Nephropathy: PLA2 and beyond

Newborn screening (NBS) is an essential public health strategy aimed at identifying newborn babies that are affected by certain genetic, metabolic and infectious conditions. NBS enables the early detection and management of several congenital disorders, which if left untreated, may lead to mental retardation and/or death. Early diagnosis and instigation of treatment, along with appropriate long-term care help ensure normal growth and development of the affected individual.

The Sheffield Regional NBS Laboratory is one of the largest newborn screening laboratories in the UK testing around 65,000 newborn bloodspot samples per year and has been an integral part of routine newborn care for the region of South Yorkshire, Lincolnshire and East Midlands. Newborn screening in the United Kingdom now includes screening for 10 conditions including multiple metabolic, haemoglobinopathies and only recently severe combined immunodeficiency - all detectable though multiplex laboratory procedures.

This presentation will briefly review the implementation of newborn screening in the region, including a brief history and justification for newborn screening, laboratory detection and diagnosis of the screening condition, the referral pathway/notification to a regional consultant paediatrician for initiation of treatment of the condition/follow up testing and conclude with a case study.

How to train your dragon . . . not to harm your workforce

NGS for molecular profiling of cancer in routine practice.

There is legitimate expectation that molecular profiling of cancers can bring precious information to guide the treatment.

The clinically relevant alterations are of varied types: gene mutations, copy numbers, rearrangements, but also protein levels of expression. Profiling of tumours in routine practice is complex logistically, due to the high number of patients and targets, the small size of the samples and the quick turn around time required. An exhaustive assessment requires a variety of platforms.

Furthermore, it becomes relevant to repeat profiling on tissue and on blood during the patient’s treatment.

Next Generation Sequencing (NGS) offers the possibility of multiplex testing, with high sensitivity and specificity. There are multiple approaches: whole genome sequencing, whole exome sequencing and panels of varied sizes.

In practice, the focus is to concentrate on providing an exhaustive clinically relevant assessment for all patients, which is guided, for each type of tumour, by WHO and NICE or equivalent guidelines.

There has been initially an excess of enthusiasm about what NGS could offer in routine practice; the technology had yet not reached the stage of being implementable within clinical practice without significantly destabilising the management.

However, thanks to significant improvement, including automation of the process, efficient IT and Bioinformatics, NGS is now safely implementable.

Pending a coherent political and funding approach, molecular diagnostic laboratories are able to provide high throughout sequencing of tumours on real life tissue samples and on blood.

It is important to mention that the molecular diagnostic laboratories also need to maintain single gene testing, immunohistochemistry, FISH and to implement artificial intelligence based assays on tissue, which will be essential and complementary to NGS testing.

The results of the molecular profiling will need to be transcribed in a comprehensive, integrated and clinically relevant report.

Monkeypox case management/infection control

Understanding your laboratories baseline data is the most important first step to identify where to improve services. Data is key to understanding preanalytical processes, simple things such as the location of phlebotomy clinics, the timings of transport collections, the number of paper requests all have an impact on specimen reception workflows and specimen turnaround times.

Many labs still continue to measure a specimen's turnaround time from the moment it arrives at the lab, which is too late.

We will demonstrate how data modelling and innovative transport solutions will improve system workflows, reduce specimen rejections, smooth out specimen arrivals, reduce the output of CO2 and meet the preanalytical quality requirements for your next UKAS inspection.

Thrombophilia is defined as hereditary and/or acquired conditions associated with an increased predisposition to thrombosis. The previous British Society for Haematology guideline on thrombophilia testing (2012) focused only heritable thrombophilia testing. The updated guideline published in 2022 (1) has a widened scope to include both heritable and acquired thrombophilia especially antiphospholipid antibodies, paroxysmal nocturnal haemoglobinuria, myeloproliferative neoplasm (MPN) and the presence of a JAK2 mutation in the absence of an MPN phenotype. Disorders such as cancer, inflammatory conditions and obesity are associated with thrombosis through multiple mechanisms, but these are not included in the guideline which focuses only the factors identified from laboratory testing.

The key principle in the guideline is that when clinical utility of testing is not clear, thrombophilia testing is not mandatory, and testing should be done only if the result will alter the management of the patient. These guidelines emphasise the importance of identifying antiphospholipid syndrome and JAK2 +/- MPN phenotype because they have a significant impact on management. The guidelines confirm the limited utility of testing for hereditary thrombophilia testing in venous thromboembolism, arterial thrombosis and recurrent pregnancy loss.

1. Arachchillage, DJ, Mackillop, L, Chandratheva, A, Motawani, J, MacCallum, P, Laffan, M. Thrombophilia testing: A British Society for Haematology guideline. Br J Haematol. 2022; 198: 443– 458. https://doi.org/10.1111/bjh.18239