Programme
Training Days
Monday 10 June - Biochemistry Training Day
Biochemistry Day
Biochemistry Day
Biochemistry Training Day
Chairs: Katie Hadfield and Naomi Gadsby
Method evaluation – interactive workshop - George Allen
Dr George Allen will lead an interactive joint session for delegates of both the Biochemistry and Microbiology training days covering the topic of method verification and validation. Alongside lecture-based material this session will be hands on and practical giving delegates the opportunity to plan evaluation experiments and interpret data. We are really excited about the opportunity for trainees from both specialities to spend time working together and sharing experiences from their own parts of the laboratory. With this in mind the session will focus on tests which cross the lines between Microbiology and Biochemistry eg. serological testing and therapeutic drug monitoring with all of the background information provided for both specialties to ensure that delegates are up to speed with key information about the assays discussed. Method evaluation is a key skill for clinical scientists from all disciplines and we expect this workshop to help hone those skills for trainees at all stages of training.
The morning will run jointly across the Biochemistry and Microbiology groups.
Speakers
Dynamic function testing
Dynamic function testing
Biochemistry Training Day
Dynamic function testing plays a crucial role in clinical biochemistry by evaluating the functional capacity of various physiological systems. This methodology involves assessing the response of biological systems to specific stimuli, such as glucose tolerance tests or hormonal challenges, to diagnose and monitor conditions like diabetes, adrenal insufficiency, and growth hormone disorders. Through dynamic function testing, we can elucidate the intricate dynamics of metabolic pathways and hormonal regulation, enabling precise diagnosis, treatment optimisation, and disease management. This interactive workshop will provide trainees with an overview of key dynamic function tests and how they are used in clinical practice.
Speakers
Stephen Gibbons
Talat Mushtaq
Monday 10 June - Microbiology Training Day
Microbiology Training Day
Microbiology Training Day
Microbiology Training Day
Chairs: Katie Hadfield and Naomi Gadsby
Method evaluation – interactive workshop - George Allen
Dr George Allen will lead an interactive joint session for delegates of both the Biochemistry and Microbiology training days covering the topic of method verification and validation. Alongside lecture-based material this session will be hands on and practical giving delegates the opportunity to plan evaluation experiments and interpret data. We are really excited about the opportunity for trainees from both specialities to spend time working together and sharing experiences from their own parts of the laboratory. With this in mind the session will focus on tests which cross the lines between Microbiology and Biochemistry eg. serological testing and therapeutic drug monitoring with all of the background information provided for both specialties to ensure that delegates are up to speed with key information about the assays discussed. Method evaluation is a key skill for clinical scientists from all disciplines and we expect this workshop to help hone those skills for trainees at all stages of training.
The morning will run jointly across the Biochemistry and Microbiology groups.
Speakers
Putting together your portfolio of evidence for STP equivalence
Portfolio Preparation for HCPC registration: a microbiology trainee perspective
Immunology for clinical scientists – exploring immunodeficiencies and autoimmune mimics of infection
Undertaking infection research in the NHS – pathways, ethics, how to combine research into your training
Conference
LabMedUK24 on 11 and 12 June has been accredited by the Royal College of Pathologists for up to 11 CPD points.
Transatlantic award lecture
Paediatrics
Paediatrics
Parallel session
Chair: Rachel Carling
10.15 - 10.45 - Biochemistry of sterols, bile acids & oxysterols - William J Griffiths
Cholesterol is a key molecule in all human cells where it can make up 40 - 50 mole % of plasma membrane lipids. Disorders of cholesterol biosynthesis and metabolism lead to disease. These may present in infancy, but often in midlife. Many of the disorders of cholesterol biosynthesis/metabolism fall into the category of rare diseases which may be difficult to diagnose, with patients suffering the diagnostic odyssey. Here we present an LC-MS method incorporating simple derivatisation chemistry to assist in the diagnosis of multiple disorders related to cholesterol biosynthesis and metabolism. The method is applicable to measuring almost all cholesterol precursors from zymostenol and zymosterol, cholesterol itself, and its metabolites through the oxysterols to bile acids and their multiple conjugates. We will illustrate the method by looking at cases of patients where conventional methods have failed to uncover a definitive diagnosis.
10.45 - 11.15 - The Role of the Clinical Biochemist in the Syndrome Without a Name (SWAN) Clinic - Stuart Moat
One of the top priorities set out by the UK Rare Diseases Framework is to help patients get a diagnosis faster. There are approximately 3.5 million individuals in the UK with a rare disease and it is estimated that there are 7,000 rare diseases. Many of these patients experience the diagnostic odyssey, misdiagnosis or no diagnosis. Those patients in which there has been no diagnosis made are referred to as having a “Syndrome Without a Name” or SWAN. In Wales, a SWAN clinic was established in 2021. The use of whole genome sequencing (WGS) and expanded gene panels have significantly increased the identification of rare disorders. However, 70–75% of these patients are still left without a molecular diagnosis. The use of genomics has shown that a number of novel variants, variants of unknown significance (VUS) are detected along with known disease-causing variants. VUS are genetic changes without enough evidence to be definitively determined as either benign or pathogenic. With appropriate supporting biochemical evidence, a VUS can be reclassified as either pathogenic or benign. Metabolomics has consequently been used to complement WGS and gene panel testing to increase the diagnostic yield. The clinical biochemist is pivotal in gathering information from various investigations, literature and case reports to guide the clinical team on which metabolomic or functional assays are required to confirm / refute a disorder. Many of these metabolomic assays are not available in NHS laboratories and collaboration with experts in the UK academic metabolomic community is required to assist clinical biochemists translate knowledge and methods from academia to the clinical laboratory.
11.15 - 11.45 - Metabolomics and GCMS - Simon Eaton
Although most people familiar with metabolomics will be aware of metabolomics performed using either LCMS or NMR, the “old” technology of GCMS does have some advantages for metabolomics. The availability of libraries obtained using standardized derivatization, chromatography and ionization gives reassurance of compound identification, even on unit mass resolution mass spectrometers, for metabolites of central metabolic pathways. The analysis can be relatively rapidly developed from untargeted metabolomics analyses to targeted methods for identified compounds of interest. Unlike some other -omics analyses (genomics, transcriptomics), universal coverage of all metabolites is unlikely to be achieved using any platform, so to a certain extent choice of which area(s) of metabolism to obtain coverage over is implicit in deciding which metabolomics platform to choose. For example, lipidomics including complex lipids is much better served by techniques other than GCMS, but as most low-molecular weight metabolites are amenable to GCMS so there may yet be life in a very mature technology.
Speakers
Rachel Carling
William J Griffiths
Stuart Moat
Simon Eaton
Faecal testing
Faecal testing
Parallel session
Chair: Sally Benton
This session will provide an update on how new testing approaches for diagnosis of colorectal cancer and lower GI diseases are evolving.
10.15 - 10.45 - Qualitative (lateral flow) point of care FIT tests - do they work? - Shane O'Driscoll
There are an increasing number of qualitative lateral flow FIT methods available on the market. These are marketed for health care professionals and/ or public use. There is often overlap. NHS England and cancer charities have raised concerns about the availability of these kits and the validity of the results they generate. The aim of this talk is to provide an overview of kits available on the market and present results from an evaluation carried out to assess a number of these kits.
10.45 - 11.15 - A laboratory experience of calprotectin (and FIT) in clinical pathways - Neil Syme
Faecal testing has been part of the biochemical investigation of disease for a long time. The advent of more automated assays for analytes such as faecal calprotectin and haemoglobin in the last decade has led to huge improvements in diagnosis and management of lower gastrointestinal disease. Stool samples do not typically take the same route to the laboratory as blood. Collection of stool samples lies in the hands of the patient, followed by a period of storage and transport to the laboratory, where they are stored again and extracted prior to analysis. Modern faecal sample collection devices have significantly streamlined this process, enabling safer and more consistent testing, and improved workflow. This talk aims to give an overview of the implementation and challenges of stool testing in a general chemistry laboratory.
11.15 - 11.45 - Implementing faecal immunochemical testing (FIT) into symptomatic pathways the Nottingham experience - David Humes
We implemented FIT testing in our colorectal cancer pathway in Nottingham in 2016 and have developed our pathway following a successful initial pilot study. Since its introduction, we have strived to improve the ability of FIT and other factors to determine which patients should undergo invasive investigations. This has resulted in the development of the Nottingham 4F protocol of a FIT, digital rectal examination, and a full blood count and ferritin prior to referral. Through this we aim to deliver a tailored pathway to risk stratify patients and prioritise investigation in those at most risk of being diagnosed with colorectal cancer. Since its introduction, FIT has acted as a potential barrier to referral in those with symptoms and we have studied the effect sociodemographic factors have on return rates in the symptomatic population. This talk aims:
- To describe the implementation of a stratified FIT pathway and its evaluation.
- To describe variations in FIT return and use by sociodemographic factors and region.
Speakers
Sally Benton
Shane O'Driscoll
Neil Syme
David Humes
Impact award lecture
Impact award lecture
Plenary
Saving precious pandemic ED waiting time with a new Chest Pain Pathway - Catherine Dibden
The COVID-19 pandemic placed additional space and resource constraints on many areas of NHS hospital care across the UK, not least the emergency departments (ED). In May 2020 a new chest pain pathway was implemented at Barnsley Hospital, aiming to reduce the length of patient stay in ED and reduce hospital admissions. The new pathway uses a higher initial hs-cTnI (Siemens Advia/Atellica TNIH) cut-off for NSTEMI rule-out than almost all previously published pathways employ.
A clinical audit of outcomes for patients who had NSTEMI excluded by the chest pain pathway in use and a single hs-cTnI result, 1 year pre- and post-implementation, gave reassurance that the new pathway had enabled many more patients to be discharged home after a single troponin result, whilst preserving comparable outcomes to the old pathway. Discharging additional patients after their initial blood result eased pressures on the ED, the Acute Medical Unit, and Cardiology at Barnsley Hospital, with an estimated annual saving of over 800 hours of patient stay in the ED.
This talk will discuss the new pathway that was implemented, and the reasons why this particular hs-cTnI method may be well suited to an increased rule-out cut-off in the evaluation of cardiac chest pain.
Chair: Kath Hayden
Speakers
Catherine Dibden
Katharine Hayden
Laboratory management
Laboratory management
Parallel session
Chair: Helen Bruce
2.20 - 2.50 - The curiosity of change - Denise Cook
Our organisations in all sectors have had to face and cope with massive change, both externally and internally for many years. This often brings turbulence to our different environments, including our work environments. None of us would have predicted the scale and pace of change through the pandemic, and emerging from this time we feel the effect of this huge turbulence, which has altered irrevocably the psychological contract between our organisations and our employees.
The impact of this is that for possibly the first time, we have had to think about what we can do for our staff as well what they can do for us. It is no longer about the just managing a change, we must now look at our leadership style and consider managing change with compassion. In this context, leadership as well as management.
2.50 - 3.20 - Crafting Care: A collaborative journey towards evidence-based care sets development within a pathology network - Sarah Curtis
The Cheshire and Merseyside Pathology Network (CMPN) encompasses seven provider sites, each playing a vital role in delivering high-quality healthcare services: Countess of Chester Hospital, Mersey and West Lancashire Hospitals, Liverpool University Hospitals, Warrington and Halton Hospitals, Wirral University Hospitals, Alder Hey Children's Hospital and The Walton Centre.
We have developed a laboratory-led collaborative and evidence-based approach to the development of harmonised care sets for primary care. The overarching goal is to enhance the standard of clinical care, foster system sustainability, and minimize unwarranted variation across the network.
Upon conducting an initial assessment of the existing configurations across all CMPN sites, benchmarking revealed a "Top Ten" of common themes for prioritisation, which also concorded with an outline of care sets designed by colleagues at NHS Tayside, categorised into “New presentations” and “Long term conditions” and generously shared with us, demonstrating the value of developing communities of practice.
Our recommendations stem from a thorough examination of multiple clinical guidelines and other sources of best practices. Each recommendation underwent rigorous evaluation across four key domains: clinical safety and effectiveness including equality impact, standardisation (addressing regional and national variation, including insights from the pathology GIRFT report), sustainability (considering financial implications and workload impacts), and practicality (assessing ease of implementation across diverse laboratory and informatics landscapes).
We discovered that simultaneous development of agreed harmonised profiles by the same guiding principles to be key to our success, enabling clear and consistent understanding of precise components included in every care set.
This was truly a collaborative effort, with contribution and engagement from every organisation and a general practitioner within the group membership. As we continue to build upon these robust foundations, we are confident that our approach will propel us closer to our target operating model. This model envisions the consolidation of secondary care pathology services onto a unified laboratory information management system, coupled with a single ICE order communications system for primary care, thus streamlining operations and enhancing overall efficiency across the network.
3.20 - 3.50 - Pathology networks - maturity and benefits - Bruce Daniel
Pathology transformation is about realising optimal patient pathways through digitally enabled, networked pathology services that are integrated into patient clinical pathways and are productive, efficient, and delivered sustainably using optimal resources, and work effectively and collaboratively with partner organisations.
The NHS Long Term Plan recognised the need for transformational investment and reform of diagnostic services. In response, pathology networks have embarked on a programme of transformation that has sought to provide sustainable, high quality effective pathology services offering productivity, effectiveness, and efficiency gains.
The operational planning guidance for 2022/23 committed the NHS to ensuring all pathology networks are classed as mature in all domains by end of 2024/25.
Supported by Integrated Care Systems, the establishment of pathology networks remains the primary mechanism to drive service change to meet the growing demands. As pathology networks and NHS providers realise the effectiveness and efficiency gains of more centralised services, the exploration of opportunities to merge and expand pathology networks across wider geographies and patient populations will continue.
It is a considerable achievement for pathology services across England to now be recognised as 27 pathology networks, that are better equipped to inform and shape patient-centred, clinical pathway improvements within and across their integrated care systems.
Speakers
Helen Bruce
Denise Cook
Sarah Curtis
Bruce Daniel
Medal award presentations
Vitamin B12 deficiency and the NICE guidelines: A debate
Vitamin B12 deficiency and the NICE guidelines: A debate
Parallel session
Chairs: Alexandra Yates and David Gaze
In August this year LabMed asked members for input into the consultation request on the NICE guidance on Vitamin B12 deficiency in over 16s: diagnosis and management.
The membership responded in unprecedented numbers, expressing both support for these guidance but also some concerns. In this session we will review the NICE guidance (published March 2024) and its impact on laboratory medicine, with views from those involved in the production of the guidance, GIRFT and LabMed membership. This debate session will provide an lively interactive and interesting overview of the laboratory medicine aspect of the NICE guidance on Vitamin B12.
Speakers
Alexandra Yates
David Gaze
Supriya Joshi
Dominic Harrington
Emma Stevenson
Marion Wood
Myeloma
Myeloma
Parallel session
Chair: Alison Whitelegg
4.15 - 4.45 - Development of an MGUS monitoring algorithm - Ross Sadler
MGUS is a myeloma pre-cursor condition that has a 5% prevalence in over 50’s in the general population. Identification of monoclonal proteins via myeloma screening can create a burden to secondary care and primary care networks due to unnecessary referrals to haematology or overt monitoring. Conversely, a complete lack of screening and subsequent monitoring leads to more severe presentations of multiple myeloma, poorer patient outcomes and increased costs due to acute intervention. Trying to find the suitable middle ground between these two positions is not straightforward and the diagnostic laboratory involved in identifying the original monoclonal protein holds a unique position to contribute to this pathway via risk stratification and algorithmic development.
4.45 - 5.15 - Mass Spectrometry in the monoclonal gammopathy pathway - Lauren Campbell
Mass spectrometry is currently being investigated for its clinical utility at different points in the monoclonal gammopathy pathway, from screening to minimal residual disease (MRD) detection. This talk will discuss the Oxford Immunology Laboratory’s experience of using mass spectrometry in the MRD setting to improve patient experience. It will also outline our goals for evaluation of the use of mass spectrometry at other points in the patient pathway.
5.15 - 5.30 - The importance of early diagnosis in myeloma: The patient perspective - Mairi Whitson
Myeloma is an incurable blood cancer with one of the longest pathways from initial symptoms to diagnosis (median 163 days). This talk will explain why early diagnosis of myeloma is important for both patients and healthcare professionals. It will also showcase Myeloma UK’s multidisciplinary initiatives to tackle these delays and improve patients’ lives.
Speakers
Alison Whitelegg
Ross Sadler
Lauren Campbell
Mairi Whiston
Laboratory medicine foundation award
Laboratory medicine foundation award
Plenary
Steroid analysis in Saliva
The talk will focus on saliva collection techniques and then potential clinical applications including detection of adrenal insufficiency, investigation of PCOS and congenital adrenal hyperplasia
Chair: Kath Hayden
Speakers
Brian Keevil
Katharine Hayden
Mass spectrometry in the clinical laboratory - is metabolomics the next big thing?
Mass spectrometry in the clinical laboratory - is metabolomics the next big thing?
Parallel session
Chair: Andrew Davison
Mass spectrometry in the clinical laboratory - is metabolomics the next big thing?
9.30 - 10.00 - Discovery and validation of clinical metabolic biomarkers using metabolomic tools - Warwick Dunn
Metabolites are small biochemicals which can be assayed using many different scientific techniques. A range of metabolites are already applied in clinical biochemistry laboratories for disease diagnosis including glucose (for insulin resistance and diabetes) and amino acids/acyl carnitines for newborn screening for inborn errors in metabolism. Metabolomics is a discovery-based strategy applied to investigate 100-1000s of metabolites in human biofluids and tissues to enable the identification of multi-metabolite biomarker panels to be applied for disease diagnosis, risk stratification and response to treatment. In this presentation I will introduce (1) the role of metabolomics for discovery of new biomarker panels will be introduced with examples from the presenters group focused on blood cancers and exocrine function, (2) discuss the importance of validation and translation workflows and (3) discuss future applications and bottlenecks to overcome.
10.00 - 10.30 - Biomarkers of dying - how we die from cancer? Seamus Coyle
Predicting when a patient with advanced cancer is dying is a challenge and currently no prognostic test is available. Despite the fact that nearly 10 million people worldwide died from cancer in 2020 alone, little is known about the biochemical pathways that change as people die. We hypothesise there are specific metabolic changes associated with dying. This talk will present the results of recent metabolomic studies on the urine of patients with lung cancer. Metabolomics identifies new or changing metabolites from biological samples and can give an insight into changes in biochemical pathways. Data will be presented showing not only metabolite changes but also associated biochemical pathways. From these metabolites we developed a number of models predicting the dying process within the last weeks of life. The metabolites identified are potential biomarkers of dying in lung cancer and could be used as a tool to provide additional prognostic information to inform expert clinician judgement.
10.30 - 11.00 - Urine steroid metabolomics for the differential diagnosis of Adrenal Tumours - James Hawley
Adrenal tumours are detected in up to 7% of cross-sectional imaging studies, these have limited specificity for diagnosing adrenocortical carcinoma (ACC). Urine steroid metabolomics (USM) is a sensitive and specific tool for detecting ACC. USM was first established using multi-steroid profiling using gas chromatography-mass spectrometry combined with a machine learning (ML) based diagnostic algorithm. However, we have recently prospectively validated the use of liquid chromatography-tandem mass spectrometry (LC-MS/MS) for high-throughput USM for the detection of ACC. Here, I will discuss the journey so far as we look to translate LC-MS/MS USM combined with machine learning from a useful research test into routine NHS practice.
Chair: Andrew Davison
Speakers
Andrew Davison
Warwick Dunn
Seamus Coyle
James Hawley
Home self-testing
Home self-testing
Parallel session
Chair: Rav Sodi
9:30-9:40 Introduction to home self-testing - Rav Sodi
9:40-10:00 Home Self-Testing: a paradigm shift in laboratory testing - Bernie Croal
10:00- 10:20 Applications of home self-testing in the NHS - Timothy McDonald
10:20-10:40 Operational Considerations & UKAS accreditation - Timothy Woolley
10:40-11:00 Discussion session open to the audience
Home Self-testing: a paradigm shift in the delivery of laboratory services and personalised healthcare.
It is well recognised that there are many situations where the usual venous blood collection systems may not be suitable. These include many underserved populations: the neonatal and paediatric population; the frail and elderly where venous access is challenging; those with severe needle phobia in whom blood collection for medical reasons is impossible; those with mental health issues or learning disability who are unlikely to be willing to give blood; and, in clinical situations where blood collection remotely might translate into better outcomes as has been shown by diabetics who monitor their blood glucose at home. In all these circumstances, capillary blood sampling (CBS) may offer an excellent alternative.
Improving access to health care for the underserved
To improve access to better health care and to address inequalities, Public Health England has issued a report entitled ‘Blood Tests for people with learning disabilities: making reasonable adjustments.’ There are well known barriers to access to phlebotomy such as people living in remote areas far from health care centres, those who are housebound, lack of access to good transport links and those with severe anxiety related issues. There is good evidence to show that patients with mental health disorders are not being properly monitored. The recent Confidential Inquiry into premature deaths of people with learning disabilities (CIPOLD) clearly showed that in the cases examined, 43% of the deaths were unexpected owing to underlying co-morbidities such as cardiovascular disease (22%) and cancer (20%). The report called for reasonable adjustments to be made to facilitate diagnosis and management of the underserved groups of patients.
Making laboratory tests accessible: capillary blood sampling (CBS)
CBS is the use of capillary blood samples for the analyses of a vast array of biochemical, haematological, and immunological tests for the purposes of diagnosis, monitoring and treating diseases. CBS relies on micro-sampling devices to collect capillary blood from the finger or other skin surfaces. The advantages include: the collection of a small volume of blood, relative ease and painless collection of blood; amenability to remote monitoring of patients without the need to visit a primary care practice or phlebotomy centre.
As this technology is relatively new, many central laboratories have equipment that have not been designed to measure tests in small volume collections or in blood bottles that are not of the usual dimensions. This has been the main barrier to widespread adoption of CBS in mainstream healthcare, but it appears this is set to change. In addition, there are no External Quality Assurance schemes available for capillary blood testing. There is also no quality control material for use with capillary blood samples. The analytical specifications and quality goals for CBS are extrapolated from those in use for venous or whole blood testing systems.
In this symposium, we draw on the expertise of Dr Rav Sodi, Dr Bernie Croal, Prof Timothy McDonald and Mr Timothy Woolley all of whom have had experience with home self-testing. Dr Bernie Croal will define home self-testing, discuss the pros and cons of this modality. Prof Timothy McDonald will show how home self-testing is used in the NHS setting and how this can complement the routine service. Mr Timothy Woolley is head of the one of the first laboratories that is fully UKAS accredited for testing using CBS and will share his experience on how this was achieved and discuss the testing process and how the verification was undertaken.
Testing using CBS is likely destined to stay and is considered one of the disruptors of how the current clinical laboratory functions. In this exciting session we invite you as professionals and custodians of the art to join us as we discuss our experience and open the floor to you to share your thoughts. See you on Wednesday 12th June 2024 in Brighton.
Speakers
Rav Sodi
Bernie Croal
Tim McDonald
Timothy Woolley
Specialist endocrinology: new test, new method, new evidence
Specialist endocrinology: new test, new method, new evidence
Parallel session
Chair: Sophie Barnes
This symposia will cover a variety of endocrinology topics: utility of copeptin in DI, use of serum 21-deoxycortisol in CAH and using LC-MS/MS for thyroglobulin.
11.30 - 12.00 - Using copeptin to improve the diagnosis of AVP disorders - Chris Boot
Diagnosis of central and nephrogenic diabetes insipidus (AVP deficiency and AVP resistance) in patients with polyuria/polydipsia can be challenging. Traditionally the ‘indirect’ water deprivation test (WDT) has been used to differentiate primary polydipsia, AVP deficiency and AVP resistance. However, there is growing evidence that ‘direct’ tests of AVP function using copeptin as a marker of AVP secretion can offer improved diagnostic performance compared to the traditional WDT approach. This talk will include a discussion of the evidence supporting the use of various tests in the diagnosis of AVP disorders and practical advice on how to use copeptin in the investigation of patients with polyuria/polydipsia.
12.00 - 12.30 - Improving the measurement of thyroglobulin using mass spectrometry: Is there hope for the future? - Ally Matthews
Measurement of thyroglobulin is recommended for the monitoring of residual, recurrent or metastatic disease in patients with differentiated thyroid cancer following treatment with thyroidectomy and/or ablative doses of radioiodine. Immunoassays are commonly employed by clinical laboratories to measure thyroglobulin. This talk will discuss the current challenges of thyroglobulin measurement using immunoassays and will address how mass spectrometry can be used to overcome these interferences, with the overarching aim of improving patient management.
12.30 - 1.00 - Congenital adrenal hyperplasia: time to change from 17-hydroxyprogesterone to 21-deoxycortisol measurement? - David Taylor
Measurement of 17-hydroxyprogesterone (17OHP) in serum is primarily used to diagnose a disorder of the adrenal glands, congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD). Unfortunately, 17OHP suffers with specificity issues, as it is increased in other physiological (preterm infants and in the luteal phase of the menstrual cycle) and pathophysiological (other forms of CAH) conditions. From our experience of running a urine steroid profiling service, we have long known that increase of the urinary 21-deoxycortisol (21DO) metabolite 11-oxo-pregnanetriol specifically secures 21OHD CAH diagnosis. 21DO, as a product of adrenal 11β-hydroxylase activity on 17OHP, is only synthesised by the adrenal glands (and not by the gonads like 17OHP). It is also not increased in preterm infants or other forms of CAH. It has been recommended that serum 21DO measurement should replace 17OHP for investigation of 21OHD CAH, but its introduction has been hampered in the U.K by a lack of laboratories offering the test. Our laboratory recently rolled out serum 21DO testing. In this talk, the evidence for 21DO measurement will be reviewed and real life experience of use of this test shared, in order to demonstrate its superior clinical utility for 21OHD CAH diagnosis.
Speakers
Sophie Barnes
Christopher Boot
Ally Matthews
David Taylor
Artificial intelligence and machine learning: what are the implications for our practice in laboratory medicine?
Artificial intelligence and machine learning: what are the implications for our practice in laboratory medicine?
Parallel session
Chair: Ed Wilkes
This parallel session will cover a variety of topics surrounding the practical applications and ethical implications of using AI/ML in our future practice.
11.30 - 12.00 - The complex pathway to AI implementation in the NHS - Kamaljit Chatha
There is real drive nationally to investigate and implement exciting developments that Artificial Intelligence (AI) has the potential to deliver. At the same time there have been several parallel developments in setting out the governance and evidence required to ensure that the roll out of machine learning and AI software in the healthcare system is implemented in a safe manner and does not cause harm to patients. This presentation will use an ongoing AI project being developed for Bowel Cancer Screening, ColonSys, to highlight the various legal, scientific stages and regulatory approvals needed to clinically validate and implement AI in the NHS setting.
12.00 - 12.30 - Can artificial intelligence replace biochemists? - Chelsey Walsh
From grocery shopping to essay writing, artificial intelligence (AI) tools are becoming a staple part of modern life. Media publications focus heavily on the positive impact this technology, and in particular, chatbots can have in improving productivity and efficiency in a busy, technological world. So, with patients able to access their own laboratory results through the NHS app, and increasing wait times for GP appointments, the public may feel comfortable asking the internet for help in understanding their own test results. However, the safety and accuracy of responses given by chatbots is unknown compared to the standard of interpretation provided by a qualified, state-registered clinical scientist or chemical pathologist.
We therefore undertook a small-scale study that aimed to assess the accuracy and safety of two freely available AI tools providing interpretation of thyroid function test results as if posed by laboratory scientists or patients. A range of scenarios were generated to mimic a typical selection of cases and combination of blood test results seen when working in the laboratory, and presented to a group of practicing Biochemists and Chemical Pathologists as well as the two AI chatbots. The main aims were to see if AI in its current form could replace human clinical knowledge? Most importantly, are these widely used and freely available tools safe for use in this way? We looked into the appropriateness of the advice offered by these chatbots and tried to decide whether or not they could one day take our jobs!
12.30 - 1.00 - SPECTR: Automating the detection of monoclonal gammopathy using serum protein electrophoresis and deep learning - Xavier Dieu
Serum protein electrophoresis (SPEP) is a routine analysis in medical laboratories. Its main indication is screening, diagnosis, and follow-up of monoclonal gammopathies. Human interpretation is to this day still mandatory for highlighting relevant pathological patterns and avoiding pitfalls that may alter trace interpretation. This human step hinders throughput, harmonization, and security of results.
Speakers
Ed Wilkes
Kamaljit Chatha
Chelsey Walsh
Xavier Dieu
Freddie Flynn award
Freddie Flynn award
Plenary
Chair: Kath Hayden
Clinical decision support system-based integration of plasma steroidomics with artificial intelligence: A blending of technologies for diagnostic stratification of primary aldosteronism
Graeme Eisenhofer,1 Georgiana Constantinescu,1 Manuel Schulze,2 Mirko Peitzsch,1 Hanna Remde,3 Lydia Kürzinger,3 Sven Gruber,4 Jun Yang,5 Andrea R Horvath,6 Tracy A Williams,7 Lisa Müller,7 Martin Reincke,7 Felix Beuschlein,4 Jacques W.M. Lenders,8 Christina Pamporaki.1
1University Hospital Carl Gustav Carus, Technische Universität Dresden, Germany; 2Center for Interdisciplinary Digital Sciences, Technische Universität Dresden, Germany; 3University Hospital, University of Würzburg, Germany; 4University Hospital Zurich, Zurich, Switzerland; 5Hudson Institute of Medical Research, Clayton, Victoria, Australia; 6New South Wales Health Pathology, Prince of Wales Hospital, Sydney, Australia; 7University Hospital, Ludwig Maximilian University Munich, Munich, Germany; 8Radboud University Medical Center, Nijmegen, the Netherlands.
With advances in clinical mass spectrometry (MS) that allow for simultaneous measurements of multiple analytes there is need for systems to facilitate interpretation of multidimensional data and conveyance to physicians in an easily digestible form. This can be achieved by a blending of laboratory and artificial intelligence (AI) technologies within a clinical decision support system (CDSS), which for laboratory medicine must satisfy not only regulatory requirements for in vitro diagnostics but also those for a CDSS as a medical device. For medical device regulation (MDR), the CDSS should not only provide valid support of clinical decisions, but should also be robust, efficient, cost-effective and safe for the designated task. In diagnostics, applications of AI usually involve supervised machine learning (ML) with algorithms for disease classification to generate mathematical models that are then applied to laboratory and other clinical data. MS-based steroidomics for diagnostic stratification of patients with primary aldosteronism is one area of laboratory medicine for which we have blended the various technologies within a CDSS to convey steroidomic data and ML model-derived interpretations to physicians. The CDSS has been applied in a prospective multicenter study (PROSALDO) of over 800 patients with hypertension recruited to validate previously established ML models developed for screening purposes and stratification of patients for therapeutic intervention. To satisfy MDR requirements, robustness of the CDSS has been tested by reproducibility of generated steroid probability scores within and between different laboratories. Effectiveness and efficiency of the CDSS has been established from steroid probability scores that for screening purposes compare favourably with conventional use of the aldosterone:renin ratio, but more importantly enable identification of a subset of patients as candidates for adrenalectomy. Such patients, with imaging evidence of a unilateral mass, may thereby escape need for confirmatory tests as well as expensive and invasive adrenal venous sampling studies. Minimized need for withdrawal of antihypertensive medications further supports MDR requirements for cost-effectiveness, efficiency and safety of the CDSS.
Speakers
Graeme Eisenhofer
Katharine Hayden
