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Congenital heart defects are a leading cause of infant death, accounting for more deaths than any other type of malformation and up to 7.5% of all infant deaths. Timely diagnosis is crucial for the best possible outcome for these children. However, the accuracy of current methods for screening for critical congenital heart defects (CCHD) before birth is variable and currently only detects these defects in between 35-50% of cases. Although around a third of remaining cases are picked up after birth, up to a third of children with a CCHD are sent home, where they may become unwell or die. Research led by Dr Andrew Ewer at the University of Birmingham has demonstrated that pulse oximetry is a rapid, safe, non-invasive, painless method of detecting the low blood oxygen levels associated with CCHD, and is also a cost-effective approach. As a result of Dr Ewer's research, Pulse Ox was recommended for adoption across the US in 2011 by the Secretary for Health and Human Services, and Dr Ewer has been instrumental in this screening approach being taken up worldwide. This research prompted a national UK review of screening for these conditions.
IOE researchers have helped the NHS to maximize the number of babies in the UK who are screened for a range of serious but treatable conditions when they are about a week old. This means that more children with one of the screened-for conditions can start a course of treatment quickly. The fruits of the IOE team's work — a suite of training materials for healthcare staff and information leaflets for parents — have had another important consequence. They have enabled parents in the UK and in other countries to make much more informed decisions on screening than they could in the past.
Research conducted by LSHTM has played a key role in supporting the global elimination of congenital syphilis. Two studies providing evidence of the health burden of congenital syphilis in Africa and the effectiveness of benzathine penicillin treatment form a pillar upon which WHO established its new syphilis elimination initiative. Further research has resulted in the adoption of new point-of-care tests for screening pregnant women for syphilis in 30 countries. As a result, more women are diagnosed and fewer babies die of syphilis.
The UK Faecal Occult Blood Test Screening Programme, based on Dundee-led research (Steele), offers bowel cancer screening through mailed test kits followed up with colonoscopy when faecal blood is detected. It is estimated to prevent about 2,000 UK deaths annually. Steele's Screening Research Unit also trialled immunological faecal occult blood testing, which was subsequently incorporated into the Scottish screening algorithm. In addition to demonstrating a 27% reduction in bowel cancer deaths through participation in Faecal Occult Blood screening, the Unit has researched the incidence of interval cancers and the impact of repeated invitations, development of new tests, and strategies for increasing participation. All of these drive the National Screening Programme, and will further reduce mortality.
The Institute of Sound and Vibration Research (ISVR) has played an influential role in transforming testing for child deafness in Europe, North America and elsewhere. In England, the NHS drew on its findings in deciding to replace traditional testing methods with universal newborn hearing screening programmes. This form of testing is more accurate, cost-effective and can be conducted at an earlier age. In England alone more than four million babies will be screened between 2008 and 2013, with around 6,000 identified as having hearing impairments. Earlier clinical intervention has benefited children's language development and overall quality of life.
Abdominal aortic aneurysms (AAAs) affect more than 4% of British men aged 65-74 and are responsible for over 6,800 deaths annually. The MASS trial showed that screening could reduce AAA-related mortality by 42%, and the Health Economics Research Group (HERG) demonstrated, through the MASS trial, that AAA screening was cost-effective. HERG thus helped inform the policy announced by UK ministers in 2008 to introduce a national screening programme for all men reaching 65. By Spring 2013 it was fully introduced in England — offering screening to 300,000 men annually; the latest Annual Report (2011-12) claimed an uptake rate of 75%. In 2008 the DH estimated the health gain from a screening programme would be at least 130,000 QALYS over 20 years. Internationally, MASS is the most significant trial of AAA screening, and provides the most robust evidence-based model of its cost-effectiveness. It extensively influenced AAA screening guidelines, policies and services, including in the USA and Europe.
This research significantly improved the accuracy of antenatal screening for Down's syndrome and the extent to which maternal choices are informed by robust evidence. Tests developed by Professor Nick Wald's team at Queen Mary's Wolfson Institute of Preventive Medicine and validated in the SURUSS (Serum Urine and Ultrasound Screening Study) study were adopted as national UK policy in 2003 and remain an established gold standard worldwide. As a result, most Down's syndrome babies in UK are now born through parental informed choice, and (using age-adjusted figures) approximately 3,000 fewer babies with the syndrome were born between 2008 and 2013. Screening programmes in numerous countries are based on this research.
Antenatal screening aims to identify genetic carriers of sickle cell/thalassaemia in order to provide prospective parents with "informed choice". Throughout the period January 2008-July 2013, the NHS in England has used a Family Origins Questionnaire in connection with sickle cell/thalassaemia screening derived from our research programme. The original policy issue concerned whether or not it is possible/desirable to target antenatal screening for sickle cell/thalassaemia by means of an ethnicity question. The policy problem was that socially constructed "ethnicity" categories correspond imperfectly and to an unknown degree with actual prevalence of genetic carriers. The screening question based on our research now guides the offer of initial screening and/or further laboratory tests for all pregnant mothers in England.
Essex contributed to the independent evaluation of the UK NHS Bowel Cancer Screening Pilot programme by conducting the psychosocial aspects of this research. The evaluation recommended full roll-out, and was used to inform the programme's subsequent development and implementation. Nationwide screening for 60-69 year olds, using the Faecal Occult Blood test, began in 2006 and in 2010 the programme was extended to include adults up to their 75th birthday. Since July 2006 over 17 million screening episodes have been completed and 15,000 cancers detected. It is estimated that the programme is on track to cut deaths by 16%.
Research by Professor Judith Stephenson and colleagues at the UCL Institute of Women's Health into the effectiveness of chlamydia screening has led to guidance to health policy makers in the EU about national strategies for chlamydia control, and has influenced NICE guidelines on the subject. In particular, our work has informed debate on the value for money of the National Chlamydia Screening Programme (NCSP). Stephenson advised the National Audit Office on this topic, and a resulting report led to the NCSP focusing on chlamydia testing in sexual health services and primary care rather than screening in low risk groups. These changes are expected to make considerable cost savings to the NHS.