Integrated Software Solutions Ltd, the specialist laboratory management software developer, today announces the successful completion of a trial implementation of its OMNI-Lab Newborn Screening management suite at Addenbrooke’s Hospital in Cambridge. OMNI-Lab is being used to manage the screening of bloodspots, taken by heelprick from thousands of newborn infants born each year in East Anglia. The tests are carried out either to exclude five serious diseases of infancy, or alert paediatricians to the need for further testing and/or possible treatment.
Actress Jenny Agutter brought these diseases of infancy and the importance of early screening back into the spotlight recently when she revealed that she carries the flawed gene that could have led to the development of cystic fibrosis in her children. She only learned this when her niece Rachel was diagnosed with cystic fibrosis some years earlier. So when Jenny became pregnant she decided to have herself tested and discovered that, like her brother, she too carries a faulty version of the cystic fibrosis transmembrane conductance regulator gene (CFTR), which causes CF. A further test carried out on her husband showed that he didn’t carry the defective gene, fortunately, so any children they had would not be at risk.
The UK National Screening Committee recommends that all babies in the UK are offered screening for phenylketonuria (PKU), congenital hypothyroidism (CHT), sickle cell disorders (SCD), cystic fibrosis (CF) and medium-chain acyl-CoA dehydrogenase deficiency (MCADD). Identified early enough and with the right medication and follow-up during the early years, the impact of these conditions on the affected children can be greatly reduced or even eliminated. It is therefore vital that tests done on bloodspots indicating the possible presence of any of the conditions during the screening process are acted upon immediately and accurately, which is where OMNI-Lab comes in.
OMNI-Lab NewBorn Screening manages the entire lab process, including:
Receipt of blood spot cards from hospitals and midwives Registration of babies and tests, with full details of collection Interface to laboratory analysis hardware and automatic filing of results Provision of rules-based validation of results, based on lab-specified criteria Automatic generation of letters to midwives/PCTs to request any missing information (e.g. DoB, transfusion status) and for repeat/follow-up blood spot collections based on first blood spot quality and test results Ad-hoc statistical reporting Electronic interfaces to Child Health Authorities (CHAs) for upload of babies’ demographics and download of test results are planned.
Jackie Udall, Chief Biochemical Scientist in the Biochemical Genetics Unit at Addenbrooke’s Hospital, commented: “The OMNI-Lab interface to our various analysers has vastly improved the way we manage the newborn screening process. Newborn screening is rules and standards based; you have to do things in a certain way. It reports the national status codes based upon the numeric results and the rules set in place, which is very reassuring. OMNI-Lab also automatically manages requests for repeat samples. The ISS consultant who we briefed on our requirements made the process of interfacing with our various analysers look easy, principally because he listened carefully to what we needed. The ISS support team are also very helpful and provide an efficient service.” She added: “It’s a really good system. There were a few teething problems initially, as you’d expect, but now it’s all settled down and we’re used to it, it works really well – I can’t imagine life without it!”
Jacqui Calvin, Director of Newborn Screening, added: “The new ISS software has greatly reduced the number of manual checks required and has streamlined the repeat requesting processes. Overall it has made a huge difference to the efficiency and monitoring of the newborn screening programme.”
Alex Anderson, Managing Director of Integrated Software Solutions, observed: “ISS is getting a bit of a reputation for delivering exactly what’s needed in the specialist field of laboratory management IT for newborn screening. So we’re delighted to have been able to work with yet another centre of excellence in Addenbrooke’s Hospital and look forward to continuing that good work as they overhaul IT systems across their entire pathology facilities.”