Impact case study database

King’s contributes to the NHS haemoglobinopathy screening programme roll-out in England.

King’s research has achieved impact through its contribution to design and roll-out the national NHS antenatal and newborn screening programmes for sickle cell disease and thalassaemia. King’s hosted the new national NHS haemoglobinopathy screening programme centre, with Dr Allison Streetly as Programme Director, from 2003 to 2013 as outlined for REF2014 (A). The continuing success of the sickle cell and thalassaemia screening programme has ensured that from 2013 to 2020, people with sickle cell disease and their families have continued to benefit from improved access to care. Individuals with sickle cell disease have benefited from earlier diagnosis soon after birth and more effective and equitable treatment. The NHS newborn screening programme, which King’s evaluated in the present assessment period, ensures that an affected child can be diagnosed with sickle cell disease before presenting with symptoms or complications, providing an opportunity to ensure early entry into a systematic programme of preventive medical care. Newborn screening has increased the number of children being identified with sickle cell disease, in many areas almost doubling the service load. Under-ascertainment of the condition meant that the scale of need was previously under-recognised and deaths of infants with sickle cell disease contributed to higher infant mortality rates in urban areas as babies died without a diagnosis or treatment. A 2018 editorial in Archives of Disease in Childhood (B), which commented on the King’s evaluation, observed that ‘England’s newborn haemoglobinopathy screening system has demonstrated exceptional accuracy of detection and successful rates of patient notification, along with early intervention.’

King’s research informs service standards for antenatal screening.

The linked NHS antenatal haemoglobinopathy screening programme ensures early detection of affected pregnancies giving affected couples informed choice over reproductive outcomes. Influenced by the results of King’s SHIFT Trial, the national NHS Sickle Cell and Thalassaemia Screening Programme set programme standards (C) for timely antenatal screening including minimum standards of requiring 50% of women to receive their screening results by 10 weeks gestation, and for 50% of prenatal diagnosis procedures to be implemented by 12 weeks and 6 days gestation. The Data Report for 2016/17 (D.4) shows that the 53% of antenatal screening tests were completed by 10 weeks gestation in 2016/17 (D.4 Table AN-9), but the proportion of pre-natal diagnosis procedures performed by 12 weeks and 6 days gestation decreased to 37% (D.4 Table PND-1). Avoidable delays in screening and diagnosis confirmation, which King’s research highlighted, can have a detrimental impact on people’s lives, as shown through the recently published parents’ stories from the Sickle Cell Society (E) about experiences of sickle screening in pregnancy. King’s evidence contributed to the NICE (National Institute for Health and Care Excellence) Indicator CCG81 (F) for the proportion of pregnant women accessing antenatal care who are seen for booking by 10 weeks and 0 days. NICE Antenatal Guidance (F) now states that ‘Screening for sickle cell diseases and thalassaemia should be offered to all women as early as possible in pregnancy (ideally by 10 weeks)’, providing the standard for high quality care across the NHS in England.

|# Table 1: Haemoglobinopathy Screening Programme Impacts for England (Source D) | | --- | --- | --- | --- | --- | || 2013/14 | 2014/15 | 2015/16 | 2016/17 | | Newborn infants screened | 668,117 | 661,432 | 667,800 | 667,521 | | Significant clinical condition | 319 | 278 | 265 | 274 | | Carriers identified | 8,850 | 8,942 | 8,579 | 8,530 | | Antenatal women screened | 730,779 | 710,116 | 706,041 | 676,981 | | Screened by 10 weeks gestation | 50% | 51% | 52% | 53% | | Screen positive sickle/thalassaemia | 15,281 | 14,352 | 13,870 | 12,705 | | Father specimen received | 9,687 | 9,129 | 8,655 | 8,688 | | High risk couples identified | 944 | 822 | 772 | 751 | | Prenatal diagnosis (PND) | 353 | 408 | 407 | 374 | | PND by 12 weeks 6 days | 52% | 40% | 40% | 37% | | Affected foetus identified | 89 | 118 | 104 | 80 |

The main impacts of the screening programme roll-out in this assessment period are summarised in Table 1, including results from the Screening Programme Data Reports from 2013/14 to 2016/17 (D). In each year, more than 600,000 newborn infants and 650,000 pregnant women were screened. Screening led to the early detection of affected infants, enabling early delivery of evidence-based interventions, as well as the early detection of affected pregnancies, enabling informed parental choices. Carriers of the sickle cell trait have benefited through being enabled to make informed reproductive choices when a pregnancy may be affected.

King’s provides international advice on haemoglobinopathy screening at the 2017 European Consensus Development Conference.

There has been international interest in the NHS screening programme, which is recognised to be the best developed in Europe, and arguably the world, providing a model for many other countries. King’s researchers contributed to the 2017 European Consensus Development Conference in Berlin, with Dr Streetly being invited as a keynote speaker, which led to the publication of Pan European recommendations for newborn sickle cell screening, drawing on the UK model (G). The consensus recommendations aimed to support the development of newborn screening programmes in health services of countries across Europe where they do not yet exist, and to assist quality improvement of existing programmes. The English NHS laboratory handbook, to which King’s researchers contributed, was recommended as a guide for other countries (G). An accompanying editorial (H) observed that ‘This pan‐European conference represents an important and pivotal first step towards wider newborn screening for the sickle haemoglobinopathies…There is an urgent need to develop and initiate universal screening programmes across Europe, particularly in light of the rapid globalization of migration flows, which lead to greater diversity among populations and higher prevalence of sickle cell disease.’

King’s researchers supported the piloting and implementation of newborn sickle cell screening in Tanzania.

There is growing interest in screening for haemoglobin disorders in middle and low-income countries. Tanzania has the fifth highest incidence of sickle cell disease worldwide (with an estimated 11 000 sickle cell disease annual births). King’s researchers helped to design a programme for sickle cell screening involving newborns at Muhimbili National Hospital (MNH) and Temeke Regional Hospital, Dar es Salaam, which was then implemented from January 2015 to November 2016 (I). This much needed programme in Tanzania had support from the UK Department for International Development. It adopted the newborn screening for sickle cell disease model from Public Health England and customised it to fit their settings. Muhimbili University of Health and Allied Sciences (MUHAS) conducted newborn screening for sickle cell disease in 2015/16 including 3,981 newborn infants. Sickle cell disease was diagnosed in 31 (0.8%) babies, with 505 (12.6%) identified with sickle cell trait (I). This demonstrated the feasibility and outcomes of newborn sickle cell screening as a health program for sub-Saharan Africa and showed that sickle cell disease is a condition of public health importance in Tanzania.

Additionally, Dr Streetly’s expertise was recognised in her appointment to the SAGE Ethnicity Subgroup (J) that advised on COVID-19 risks and impacts for minority ethnic groups (July 2020 – January 2021).