REPORT
a baby screened in Sheffield was diagnosed with maple syrup urine disease. As the results became available, the child was already lethargic and not crying, and just hours from death. This disease is so rare, and symptoms are initially so broad, that any number of ailments could have been causing the symptoms. The diagnosis was made much earlier through screening, and life-saving treatment was commenced. “The benefits of screening should always be weighed against potential negatives,” said Dr Carragher. “False positives can cause significant anxiety, while confirmation of diagnosis may take up to a week. The study also assessed the impact on parents and considered the best approach to minimise emotional impact. In addition, it was interesting to note that areas where the least number of parents declined the tests were where scientists were part of a multiprofessional screening network. It is believed that informed and confident midwives were the key, and a training programme led by the laboratory really helped with this.” With the backing of the National
Screening Committee, the pilot has been extended to March 2014 and has the potential for national roll out by 2014–15.
DEVELOPING A
STEROIDOMIC SERVICE Efficient and timely steroid analysis is a vital step in ensuring the right care for newborn babies who, for a variety of reasons, may not always produce sufficient steroids to develop essential functions fully. Such deficiencies can result in disease and death. At KingsPath, considerable work has taken place to evaluate different methods of steroid analysis, and new service approaches include the proposed establishment of a specialised steroidomic centre. Affecting every cell in the body, steroids
may control as many as 200 genes. Steroid analysis is challenging as they have a large number of alternative chemical structures, many having the same molecular weight. Furthermore, steroids show a huge range of physiological concentrations in the blood. While tests for steroid hormone are commonly available, other steroids are less so. Dr Norman Taylor, Director of the Supra- Regional Assay Service (SAS) for urinary steroid profiling at King’s College Hospital, explained: “Until now, the core of every steroid testing service has been based on immunoassay kits for particular steroid molecules. However, some of these have limited specificity and for the steroids behind some rarer inborn errors of metabolism there may not be an assay kit available at all. Many of these disorders first appear in the newborn baby, which is a time of life when steroid metabolism has some unique features, making the use of standard assays even more problematic.” GSTS Pathology’s long-established urine
730 THE BIOMEDICAL SCIENTIST
Dr Norman Taylor is Director of the Supra-Regional Assay Service (SAS) for urinary steroid profiling at King’s College Hospital, London.
steroid profiling service at KingsPath has developed methods using GC-MS, which provides good specificity and covers a potentially limitless range of compounds, enabling nearly all of these disorders to be identified both in babies and children. However, this technique may not be appropriate for routine use in clinical laboratories, due to the need for extensive urine sample preparation as well as analytical expertise. In terms of accuracy, precision and sensitivity, LC-MS/MS compares well to GC- MS, but allows simplified sample preparation. Dr Taylor continued: “We have been working on three developments that bring us closer to providing a service that examines the totality of steroid production and so has the potential to provide a ‘one stop’ service for steroid-related disorders that would provide an excellent fit with the other paediatric metabolic services provided. First, we are using tandem mass spectrometry to discover new steroid metabolites. Our recent study identified more than 400 previously unreported steroids in samples from babies with a single steroid disorder. Second, we have developed statistical methods that have become standard in the wider field of metabolomics to integrate very large sets of metabolic data. And third, we have developed high-performance liquid chromatography/tandem mass spectrometry to target chosen steroids in blood. We are close to offering a panel of 14 steroids. Coupling these analyses with new-generation DNA sequencing for genes related to steroid metabolism could enable us to provide a world-class service.” Dr Taylor’s proposal for a world-class
steroidomic centre combines highly accurate and specific analytical methods with next- generation sequencing of steroid-related genes, allied to a research and development programme and the academic development of scientific staff to provide a one-stop world- class service.
INNOVATION AND COLLABORATION The three examples above clearly illustrate how innovations in paediatric diagnostics at GSTS Pathology could significantly enhance patient care by providing an accurate diagnosis earlier. With many of the patients affected being in the first few days of life, this is particularly effective and important. The examples also clearly demonstrate how the laboratory service can be configured more efficiently to provide quicker results with resources that are already in place, thus becoming more cost-effective. This is especially true of collaborative projects and services.
REFERENCES 1 Report of the Children and Young People’s Health Outcomes Forum, July 2012 (
www.gov.uk/government/uploads/system/ uploads/attachment_data/file/216852/ CYP-report.pdf).
2 Department of Health. Improving Children and Young People’s Health Outcomes: a system-wide response. London: DH, 2013 (
www.gov.uk/government/ uploads/system/ uploads/attachment_data/ file/214928/9328-TSO-2900598-DH- SystemWideResponse.pdf).
3 NHS Improvement. Equality for All: Delivering Safe Care – Seven Days a Week. (
www.improvement.nhs.uk/documents/ SevenDayWorking.pdf).
Tony Sackville is head of sales and marketing at GSTS Pathology. GSTS provides services to NHS organisations around the UK, to the private sector and to other public sector services in the UK, and to International clients. More information about GSTS Pathology, and the Innovation Academy, is available on the GSTS website (
www.gsts.com).
DECEMBER 2013
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