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UOA01-12: Safe, Accurate and Non-invasive Prenatal Diagnosis

Summary of the impact

University of Oxford researchers have developed the first safe, accurate and non-invasive prenatal diagnostic tests. After confirming that fragments of fetal DNA circulate in maternal blood, University of Oxford scientists used the polymerase chain reaction technique to accurately identify fetal DNA in maternal serum and plasma. This technique, known as cell-free fetal DNA testing, has enabled the first non-invasive prenatal genetic tests for the determination of fetal gender and the diagnosis of genetic disorders. Patented in 2001 and commercially released in 2011, cell-free fetal DNA testing is now recommended by the UK National Health Service as a safe and accurate alternative to invasive prenatal tests.

Submitting Institution

University of Oxford

Unit of Assessment

Clinical Medicine

Summary Impact Type

Technological

Research Subject Area(s)

Medical and Health Sciences: Oncology and Carcinogenesis, Paediatrics and Reproductive Medicine

Antenatal screening for Down’s syndrome

Summary of the impact

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.

Submitting Institution

Queen Mary, University of London

Unit of Assessment

Clinical Medicine

Summary Impact Type

Health

Research Subject Area(s)

Medical and Health Sciences: Paediatrics and Reproductive Medicine, Public Health and Health Services

Development of a simple test that enables reliable sexing of birds

Summary of the impact

Half of the world's bird species cannot be sexed by their physical appearance. This posed a major problem for conservation breeding, which is dependent upon identification of the birds' sex for mating birds, as well as ensuring an equal sex ratio of birds for reintroduction into the wild. Researchers at the University of Glasgow developed a simple DNA test to determine the sex of birds. The test has been adopted by commercial companies in the UK and USA, one of which includes Avian Biotech (USA), who perform approximately 50,000 tests a year for commercial, conservation and private breeders, generating revenues of around £618,000. The test is available to a broad range of international groups, including zoos and conservation organisations, where it has been fundamental to the management of captive breeding of some of the world's rarest bird species.

Submitting Institution

University of Glasgow

Unit of Assessment

Biological Sciences

Summary Impact Type

Environmental

Research Subject Area(s)

Biological Sciences: Genetics

Improving Meningococcal Disease Diagnosis

Summary of the impact

Meningococcal disease (MCD) is a major cause of morbidity and mortality worldwide. Underpinning research by Dr Carrol and colleagues at the University of Liverpool (1997-1999), has led to improved diagnosis and case confirmation, establishing Polymerase Chain Reaction (PCR) of meningococcal DNA as a gold standard test for diagnosis. The result is better management and therefore, impact on health and welfare of patients, and on practitioners. The work was conducted in collaboration with the Meningococcal Reference Unit, which provides a national diagnosis and surveillance service. The test was recommended in NICE guidelines in 2010, thereby impacting public policy.

Submitting Institutions

University of Liverpool,Liverpool School of Tropical Medicine

Unit of Assessment

Clinical Medicine

Summary Impact Type

Health

Research Subject Area(s)

Medical and Health Sciences: Clinical Sciences, Medical Microbiology, Public Health and Health Services

Elucidating the genetics of deafness leads to better diagnosis and clinical services

Summary of the impact

Our research has had impact on the activities of practitioners and their services, health and welfare of patients, on society and on public policy. New diagnostic tests for genetic deafness have been introduced, and healthcare guidelines and professional standards adopted through our investigation of the aetiology of childhood-onset hearing loss. Disease prevention has been achieved by our research on antibiotic-associated deafness, public awareness of risk to health and hearing has been raised, and we have increased public engagement through debate on scientific and social issues. We have also influenced public policy on ethics of genetic testing for deafness with our research resulting in improved quality, accessibility and acceptability of genetic services among many hard-to-reach groups (deafblind, culturally Deaf, and the Bangladeshi population of East London).

Submitting Institution

University College London

Unit of Assessment

Clinical Medicine

Summary Impact Type

Health

Research Subject Area(s)

Biological Sciences: Genetics
Medical and Health Sciences: Clinical Sciences, Neurosciences

A rapid blood-based diagnostic test for meningococcal disease adopted worldwide

Summary of the impact

Meningococcal meningitis is a life-threatening acute disease affecting 1.2 million people every year. Accurate and rapid diagnosis is essential for optimal patient response; however, bacterial culture tests are slow and undermined by the immediate administration of antibiotics, resulting in sterile cultures.

The Surrey team developed a rapid, non-culture-based diagnostic test for meningitis and septicaemia: this test is now routinely used for diagnosis of meningococcal disease worldwide, and was also instrumental in the implementation and monitoring of control measures for the disease, such as life-saving vaccination campaigns. Together these have contributed to the halving of adult mortality rates from meningitis worldwide.

Submitting Institution

University of Surrey

Unit of Assessment

Allied Health Professions, Dentistry, Nursing and Pharmacy

Summary Impact Type

Technological

Research Subject Area(s)

Medical and Health Sciences: Medical Microbiology

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