SUMMARY

—  Antenatal and newborn screening of high-risk patients can reduce levels of health inequalities but only as long as services are delivered in an acceptable and accessible manner. The development of screening services allowing for equal access is not only a legal requirement (The Race Relations Act Amendment 2000, Human Rights Act (1998), Disability Discrimination Act 2005, The Equality Bill 2005), but also an ethical obligation to the population that all antenatal and newborn screening programmes cover.

—  The implementation of the NHS Sickle Cell and Thalassaemia Screening Programme ("the Programme") has gone some way to reduce health inequalities across England, particularly for minority ethnic groups. The Programme is specifically working to reduce health inequalities in these key areas:

—  Improving Access to services

—  Reducing Infant Mortality Rates

1.  INTRODUCTION: ABOUT THE NHS SICKLE CELL AND THALASSAEMIA SCREENING PROGRAMME AND THE DISEASES

  1.1  The NHS Sickle Cell & Thalassaemia (SC&T) Screening Programme was set up in England in 2001 following Government commitment in the NHS Plan (2000). It is the world's first linked antenatal and newborn screening programme.

  1.2  Sickle cell and thalassaemia are among the world's most commonly inherited genetic diseases. In England sickle cell disease is as common as cystic fibrosis. As these are genetic diseases, sickle cell and thalassaemia can affect anyone, but have a higher prevalence among specific, well defined black and minority ethnic groups:

—  The highest prevalence of sickle cell is found among Black Caribbean, Black African and Black British communities

—  The highest prevalence of thalassaemia is found among Cypriot, Indian, Pakistani, Bangladeshi and Chinese communities

  Sickle cell and thalassaemia are autosomal recessive disorders ie Carriers who only have one unusual gene are healthy and do not have a condition, however if 2 carriers have children they have a 1 in 4 (25%) chance with each pregnancy of having a child that does have the condition,http://www.sickleandthal.org.uk/Documents/RiskCardForMidwives0822.pdf

  Given the increasingly integrated and diverse society in England, health professionals and the public at large need to know that assumptions about who will be affected based on skin colour or surname are no longer sufficient—everyone needs to consider screening for these diseases..

  1.3  Sickle Cell Disease covers a range of conditions—some more serious than others. The most serious form is sickle cell anaemia (Hb SS) but there are other forms of the condition such as sickle haemoglobin C disease (Hb SC) and sickle beta thalassaemia (Hb Sβ Thalassaemia). The conditions affect the normal oxygen carrying capacity of red blood cells. The symptoms can include severe anaemia, intense pain, damage to major organs, overwhelming infections and stroke in children. Although there is no routine cure for sickle cell disease, patients and their families can be supported to manage pain, and regular monitoring (such as Transcranial Doppler Scanning) can help to avoid life threatening complications such as stroke in children. In England, 12,500 people live with sickle cell disease and an estimated 240,000 people carry the gene and could therefore pass the disease onto their children.

  1.4  Beta thalassaemia major is the most severe form of thalassaemia. The body is unable to produce haemoglobin—the element in blood that transports oxygen. Patients therefore need regular blood transfusions every 4-6 weeks throughout their lives. They also need daily treatment to deal with the iron overload that builds up in their body as a result of the transfusions. Complications include diabetes, growth problems, and problems with puberty or early menopause. In England, around 700 people are living with ðβñ thalassaemia major with an estimated 214,000 carriers.

  1.5  The Programme was set up to implement antenatal screening for sickle cell and thalassaemia and newborn screening for sickle cell disease throughout England. All newborn babies are now being offered screening for sickle cell disease as part of the bloodspot ("heel prick") tests.http://www.sickleandthal.org.uk/Documents/StakeholderEvent06.pdf. The full implementation of antenatal screening is planned for 2008.

  1.6  The overall aims of the programme:

Antenatal Screening;

  To offer timely antenatal sickle cell and thalassaemia screening to all women (and couples) to facilitate informed decision-making.

Newborn Screening;

  To achieve the lowest possible childhood death rate and to minimize childhood morbidity from sickle cell disease.

  Raise health care professional and public awareness of the disorders and challenge stigma

  Additional to the original remit, the Programme is supporting,

—  Developments to offer a screening test to people before they start a family

—  Developments for a managed clinical care network such that people have fair access to quality services throughout England, irrespective of where they live

  1.6.1  The Programme is currently rolling out antenatal screening across England. The Programme aims to offer all pregnant women the initial screening test by 10 weeks of pregnancy. Where a woman is a genetic carrier, the baby's father is also offered testing. If both parents are carriers (an at risk couple), there is a one in four chance with each pregnancy that the baby will have a disorder (either sickle cell or thalassaemia). At risk couples will be offered a range of counselling and diagnostic tests for the baby. Antenatal screening for sickle cell and thalassaemia has been rolled out in most high prevalence areas (defined as estimated foetal prevalence of sickle cell disease of over 1.5 per 10,000 births). In low prevalence areas (estimated foetal prevalence of sickle cell disease of less than 1.5 per 10,000 births), all women will be offered screening for thalassaemia and a questionnaire looking at family origin of both the woman and baby's father will be used as an initial screen to assess risk for sickle cell and other haemoglobin variantshttp://www.sickleandthal.org.uk/Documents/F_Origin_Questionnaire.pdf.

  1.6.2  Since July 2006, screening for sickle cell disease has been offered to all babies as part of the newborn blood spot or "heel prick" test Screening identifies approximately 300 babies a year who would be at a higher risk of death from overwhelming infections and other complications.

  1.6.3  The Programme is the process of developing accessible materials in a range of languages and formats to improve access to services. The programme has also commissioned a "pilot" public outreach project targeting communities that have experienced barriers to accessing services, to raise awareness about the conditions and screening services generally. The Programme has also commissioned a range of training and education initiatives since 2001 for key health care professionals raising awareness about the conditions and ensuring they were ready for service implementation. The largest of which was the PEGASUS network which has implemented professional training at 3 levels:

—  Front line professionals (midwives, Health visitors etc)

—  Public Health (Public Health Consultants, Commissioners etc)

—  Specialist Practitioners (Professional who will counsel couples at risk )

  1.7  The Programme has been working with the Department of Health Blood Team in the identification of funding for the provision of managed clinical care networks and support of those affected by sickle cell and thalassaemia. Managed care is not only important in relieving suffering, but also cost effective in reducing the cost of specialist interventions. The Programme has also supported the largely professional body—UK Forum for Haemoglobin Disorders in the development of clinical care guidelines. Many of the strategies planned will help families to spot warning signs and take early action. This, in turn, will reduce complications that are more likely if a patient is not adequately managed and are more expensive for the NHS in the longer term.

EFFECTIVELY TACKLING HEALTH INEQUALITIES: IMPROVING ACCESS TO SERVICES

  2.1  When effective newborn screening provides relatively easy access to services to manage the conditions for those affected. The roll-out of newborn screening for sickle cell in 2006 enables all babies with sickle cell to be identified early, allowing for care to be administered and families to be educated about the conditions and be involved in the management.

  2.2  Timely and effective antenatal screening for sickle cell and thalassaemia has also improved access to services. The development of the family origin questionnaire has enabled health care professionals to be at ease at asking women about their and the baby's father family origins, thus ensuring that all those at risk of sickle cell and other haemoglobin variants are offered screening.

  2.3  It is generally accepted that more women and families would have greater choice and find the process far more acceptable if the standards for early screening for sickle cell and thalassaemia were met. One of the key barriers to accessing care is the system for reporting and confirming a pregnancy. Pregnant women usually present to primary care in the first instance, however, there can be a detrimental delay in the referral to a midwife for the standard "booking appointment" and taking of the blood for the screening tests. Data from the SHIFT Trial (in press) shows that most pregnant women first present at their GP surgeries at an average gestation age of 7.6 weeks but testing takes place, on average at 15.3 weeks. Only 4.4% of pregnant women are screened by out guideline of 10 weeks. With the current arrangements in antenatal/ maternity services this standard is difficult to reach.

  2.4  A possible solution is that primary care services or practice based medicine offer the initial test before the traditional booking appointment. We also believe that by considering the option of screening for sickle cell and thalassaemia in the pre-conception, primary care could significantly reduce inequalities in this area and improve access to maternity services and choice for screening. In the same way as advice on taking folic acid and smoking cessation is offered, screening could be offered as part of routine health checks; when individuals register with a GP, during family planning appointments, as well as when pregnant woman presents. Currently GPs have a QoF system that covers antenatal care, this could be further clarified to include the offer of screening for sickle cell and thalassaemia and the family origin questionnaire, thus improving the likelihood that this standard is met. The need to look at options will be pushed up the agenda if as anticipated the NICE antenatal care guidelines endorse the implementation of the Programmes standard for screening by 10 weeks.

  2.5  The UK National Screening Committee (NSC) has produced a screening timeline that is currently available to women as part of the pre-screening and newborn screening information on all antenatal and newborn programmes. The timeline highlights optimum times for testing of all antenatal and newborn screening programmes including screening in the pre conception period and early pregnancy for the sickle cell and thalassaemia programme,..

EFFECTIVELY TACKLING HEALTH INEQUALITIES: REDUCING INFANT MORTALITY RATES

  3.1  In 2005-06 alone the newborn screening programme for sickle cell disease identified about 300 affected infants. There is well validated evidence that with effective follow up, education of parents/carers and adequate management of these babies there is a significant improvement in their morbidity and mortality rates. The newborn programme alone is expected to contribute a reduction of approximately 15 deaths per year to the infant mortality PSA target.

  3.2  Implementing screening for these diseases which predominantly affect black and minority ethnic groups also has the potential to impact on groups acknowledged by the Review of Health Inequalities Infant Mortality PSA Target report to suffer from a higher than average rate of infant mortality. In particular, there is a higher than average ethnic minority population in the "routine and manual group" compared to the general population.

  3.3  To ensure that these achievements can really be delivered there are challenges and decisions to be made about continual investment in the services for the care of these babies and children beyond the initial three month remit of the newborn screening programme.

  3.4  Timely and effective antenatal screening can also affect the outcomes of pregnancy. Antenatal screening is designed to increase choice but the ethical framework for testing is seriously undermined if parents cannot choose to have an affected baby in the knowledge that they can access quality care and support, for example through referral to a centre of excellence. And services for those living with sickle cell and thalassaemia still suffer when compared either to other chronic genetic disorders such as cystic fibrosis or to other blood disorders like leukaemia.

  3.5  The Programme is working with the Department of Health Blood Team to develop a managed clinical care network which would tackle the current inequalities and unevenness in the provision of care of affected children. Such a network would have a strong focus on primary care and tie into wider programmes aiming to improve the care of individuals living with chronic conditions by the proactive management of their conditions in the community.

4.  RECOMMENDATIONS

  4.1  It should be the responsibility of all primary care professionals to consider the appropriateness of screening for their patients. Not just for pregnant women (who should be offered screening for sickle cell and thalassaemia before 10 weeks) but as a service proactively offered to high-risk or all individuals at opportunistic points in care.

  4.2  Consideration should be given to greater incentives for the implementation of the challenging new antenatal screening deadlines through primary care practice eg QoF.

  4.3  Long term commitment should be given to guarantee the future development and maintenance of a managed clinical care network and centres of excellence for the treatment of sickle cell and thalassaemia. This will include ensuring commissioning and support processes including adequate payment by results coding and investment in training for relevant healthcare professionals.

January 2008