Equality impact assessment: screening for hereditary tyrosinaemia type 1 (HT1)

Question 1

Summary

Accepted Answer

The public sector equality duty and Family Test analysis concerning the introduction of screening for hereditary tyrosinaemia type 1 (HT1) as part of the NHS newborn blood spot (NBS) screening programme.

Question 2

Intended outcomes

Accepted Answer

This equalities analysis examines the potential impact of the inclusion of hereditary tyrosinaemia type 1 (HT1) in the existing NHS NBS Screening Programme in accordance with the Equality Act 2010. In addition, in respect of England, this document considers issues relevant to the Secretary of State’s duty to have regard to the need to reduce inequalities between the people of England with respect to the benefits that they can obtain from the health service, under section 1C of the National Health Service Act 2006.

The UK National Screening Committee (UK NSC) is the independent scientific committee that advises ministers and the NHS in all 4 UK countries on all aspects of screening programmes. Evidence for implementing a new screening programme or amending an existing programme first has to be reviewed by the UK NSC for a formal recommendation to be made.

In February 2024, the government approved the UK NSC’s recommendation for screening for HT1 as part of the NHS NBS screening programme. The recommendation estimated the main benefits of screening to be:

a reduction in the number of babies with HT1 who experience severe liver disease in the early months of life
potentially, a reduction in the number of babies with HT1 who need a liver transplant in later life
reducing uncertainty through asymptomatic diagnosis
increasing equity in access to treatment for HT1

Background information about screening

Screening is the process of identifying people who are asymptomatic (have no symptoms) but who have an increased risk of developing a disease or condition. NHS screening programmes are an efficient and proven method for early diagnosis while minimising false positive results as much as possible. Early detection for some risks and conditions has real benefits. Individuals identified as being at greater risk of developing a condition can be supported to take preventative measures to reduce their likelihood of becoming unwell. For those where a condition is detected, individuals can make better informed decisions around their treatment, with early detection likely to make any required treatment more effective and therefore lead to better health outcomes. As a population screening offer is universal, and there are mechanisms to monitor and quality assure the completeness of offer, the policy and associated implementation is likely to advance equality of opportunity and reduce inequality.

In England NBS screening, also known as the heel prick test, is offered to all newborn babies normally when they are 5 days old - either in the hospital or at home. This screening programme enables early identification, referral, and treatment of babies with 9 rare but serious conditions including sickle cell disease, cystic fibrosis, congenital hypothyroidism and 6 inherited metabolic diseases including phenylketonuria (PKU). Babies who test positive for any of these conditions can be treated early to help improve health outcomes, and potentially prevent severe disability or even death.

All of the conditions screened for via NBS screening are genetic. The test itself looks for biological markers in the blood that could indicate the presence of the condition. Further tests are required for a formal diagnosis.

A positive screen for one of the 9 conditions is dependent on how rare the condition is; for example every year in the UK around 270 babies are born with sickle cell disease, 1 in every 2,500 babies is born with cystic fibrosis and 1 in every 2,000 to 3,000 babies has congenital hypothyroidism.^{[footnote 1]}

Coverage (the proportion of the eligible population that is tested and has a result documented) is typically very high for NBS screening of those babies registered within an integrated care board (ICB) at birth. The latest published coverage figure for this group, for the period 1 October to 31 December 2022, was 96.3% for England. However, coverage for ‘movers in’ (babies eligible for NBS screening who have changed responsible ICB or have moved in from another UK country or abroad in the reporting period) is lower at 78.1% for the period 1 October to 31 December 2022.

Background on tyrosinaemia (HT1)

HT1 is a very rare genetically inherited disorder. Babies with HT1 have inherited an abnormal gene from both parents, which is much more likely when parents are from the same family (consanguinity). It prevents the body from breaking down tyrosine which is found in food. This leads to the build-up of toxic levels of tyrosine and other harmful metabolites in the blood. Over time, people with HT1 are at an increased risk of learning difficulties, liver cirrhosis and cancer. If left untreated, death from liver failure or liver cancer usually occurs before the age of 10 years. There is no cure for HT1, but treatment using a special diet and the drug nitisinone, can help prolong life.

One person in 100,000 is affected with HT1 globally, but it may be more common in some areas. It affects approximately 7 babies born each year in the UK.

Currently in the UK, there is no universal screening of newborns for HT1. Newborns with siblings living with HT1 are identified through genetic testing, and others may be identified when undergoing screening for phenylketonuria (PKU). Incidental finding of newborns with HT1 through PKU screening is not ideal, as 3 babies a year are likely to be missed and only diagnosed later in life when they present with liver disease and may then later need a liver transplant.

Policy objectives

The model used in the UK NSC recommendation estimated that screening would increase the number of babies with HT1 who are detected before the onset of symptoms by 3 babies a year on average. These babies could then be offered drug treatment and dietary management earlier, avoiding liver disease and the need for liver transplantation.

The model also estimated that replacing current practice with screening for HT1 would mean that 89 babies would avoid receiving an incorrect diagnosis as they do not have HT1 (referred to as false positive results). This would avoid unnecessary worry and stress for their parents.

Further discussion of the modelling used, and cost effectiveness, can be found in the tyrosinaemia screening impact assessment.

Who will be affected

Babies

All babies up to but not including their first birthday are eligible for NBS screening, so all parents will be offered screening for their babies for HT1.

Parents

Parents (or primary care givers) will need to make the decisions about whether a baby has NBS screening - the analysis and impacts will focus primarily on the likely impact on parental or care giver protected characteristics on their likelihood to participate, rather than on the baby’s protected characteristics.

NHS

The NHS will need to update laboratory protocols and train laboratory staff. The healthcare professionals involved in the NBS screening programme will also need training on the addition of HT1. Genomic counsellors will need to be updated regarding the changes. There will be around 3 additional babies a year that will go into the treatment pathway earlier, so capacity will be needed to treat these babies effectively.

Question 3

Evidence

Accepted Answer

Published research

Angileri F, Bergeron A, Morrow G and others. Geographical and ethnic distribution of mutations of the fumarylacetoacetate hydrolase gene in hereditary tyrosinaemia type 1. Journal of Inherited Metabolic Disease (JIMD) 2015;19: pages 43 to 58.

Etchegary H, Nicholls SG, Tessier L and others. Consent for newborn screening: parents’ and healthcare professionals’ experiences of consent in practice. European Journal of Human Genetics 2016: November 24(11): pages 1530 to 1534.

Hutchesson AC, Hall SK, Preece MA and others. Screening for tyrosinaemia type I. Archives of Disease in Childhood Fetal and Neotnatal edition 1996: May; 74(3): F191 to F194.

Newson A. Should parental refusals of newborn screening be respected? Cambridge quarterly of Health Ethics 2016: Spring; 15(2): pages 135 to 146.

Nicholls SG and Southern KW. Parental decision-making and acceptance of newborn bloodspot screening: an exploratory study. PLoS One 2013: November 12;8(11): e79441.

van der Pal SM, Wins S, Klapwijk JE and others. Parents’ views on accepting, declining, and expanding newborn bloodspot screening. PLoS One 2022: August 18;17(8):e0272585.

Tluczek A, Ersig AL and Lee S. Psychosocial issues related to newborn screening: a systematic review and synthesis. International Journal of Neonatal Screening 2022: September 27;8(4): page 53.

Whitaker KL, Krystallidou D, Williams ED and others. Addressing language as a barrier to health access and quality. British Journal of General Practice 2021: December 31;72(741): pages 4 to 5.

National Organisation for Rare Disorders (NORD). Tyrosinaemia type 1 disease overview.

Fertray J. Ensuring pregnant trans men get equal quality care. Public Health England screening blog, 13 March 2020.

NHS England. Sickle cell and thalassaemia screening: data report 2019 to 2020.

NHS England. Sickle cell and thalassaemia screening: data report 2018 to 2019.

Interviews

Interviews were conducted with NHS England staff involved with running the NHS newborn blood spot screening programme.

Key performance indicators

Coverage of babies registered with ICBs at birth

The proportion of babies registered within the ICB both at birth and on the last day of the reporting period who are eligible for newborn blood spot (NBS) screening and have a conclusive result for phenylketonuria (PKU) recorded on the child health information service system (CHISS) at or before 17 days of age - this standard is to ensure that all eligible babies receive NBS screening within an effective timeframe.

Coverage of ICB responsibility at birth was 96.3% for the period 1 October to 31 December 2022.

Coverage of ‘movers in’

The proportion of all babies eligible for newborn blood spot screening (NBSS) who have both:

changed responsible ICB, or have moved in from another UK country or abroad, in the reporting period
a conclusive result for phenylketonuria (PKU) recorded on the child health information service system (CHISS) on or before 21 calendar days from notifying the child health department of movement in

Coverage of movers in was 78.1% for the period 1 October to 31 December 2022 - this is below the acceptable threshold.

Question 4

Analysis of impacts

Accepted Answer

Physical disability

Generally if the baby is no longer in hospital at 5 days old NBS screening will take place at home. However, there may be follow up tests to confirm the diagnosis of a condition that take place in hospital. Parents with physical disabilities may be restricted in where they can attend for screening or follow up appointments unless there are facilities to accommodate them. If access is not enabled this could deter individuals from getting their baby screened or attending subsequent appointments.

However, providers of NHS screening services are contractually required to make reasonable adjustments to ensure their services are accessible to disabled people. For example, providers must ensure that their premises are suitable for the delivery of services and are sufficient to meet the needs their patients or individuals, including those with disabilities. Additionally, most NBS screening takes place at home with a midwife, ensuring NBS screening is more likely to be accessible to everyone.

Learning disability

The NHS needs to secure informed consent from parents or care givers that they understand the reasons for screening. For people with learning disabilities, screening services have ‘easy read’ guides developed and published to allow for equitable access to information. To ensure that people are informed and not disadvantaged the current blood spot guide will need to be updated.

Sex

Tyrosinaemia type 1 affects males and females in equal numbers.^{[footnote 2]}

There is no evidence to suggest that either sex may be discriminated against in the NBS programme.

Sexual orientation

People in same sex relationships who wish to have a child may choose to do this via surrogate. This may impact NBS screening as the surrogate mother’s wishes take precedence over those of the intended parents. The surrogate must consent to the newborn screening programmes in order for the baby to be screened. The surrogate can write a letter for consent for baby to have any treatment while in the care of intended parents (IPs) - this includes the newborn blood spot screening. The IPs may be heterosexual or same sex couples in a marriage, civil partnership or living together or cohabiting or a single person of any sex. Although the IP(s) may not have a direct say about whether the baby is screened, this is a broader issue about the laws surrounding surrogacy and is not specific to the NBS programme or same sex couples.

Race

Looking at the sickle cell data (which can be extrapolated to other newborn screening tests) there has been a steady increase in the rate of declines from 2005 to 2019 (the latest available data).^{[footnote 3]} The highest rates of decline are in the ‘black Caribbean’ and ‘other’ ethnic categories. It is noted that the higher rates of declines in non-white ethnicities may be related to the higher number of declines in babies that are movers in.^{[footnote 3]}

Movers in are babies eligible for NBS screening who have changed responsible ICB or have moved in from another UK country, or abroad, in the reporting period. Coverage for movers in is substantially lower compared to the rest of the population (78.1% for the reporting period 1 October to 31 December 2022). Parents or care givers from this group may be unaware of services to which they are entitled, which could create an obstacle to their uptake of screening services. This group may include asylum seekers, who are often not registered with a GP and are particularly hard to track. If a mother and baby are not registered with a GP then they will not be offered screening.

Movers in normally have contact with the health system through health visitors who provide the offer of newborn screening, rather than the general newborn population who are screened by midwives. Movers in babies may also be a lot older when they are screened (they can be screened up to one year old). Older babies are reportedly harder to perform the NBS test on as they are a lot more mobile. Health visitors may therefore have a training gap, as a lot of the training for newborn bloodspot is for babies that are 5 days old rather than several months. Additionally, there needs to be adequate training for health visitors to explain the offer of screening to the movers in. The health visitors need to explain that the screening on offer may include conditions not included in the country of origin where the baby was born, and also that UK labs are United Kingdom Accreditation Service (UKAS) accredited and screening is recommended even if the baby has already been screened abroad.

Babies who are screened later than 5 days may have reduced health benefits from screening for HT1. This is because nitisinone treatment is most effective when started early before symptoms appear.

Roma, Gypsy, and Traveller people

Although these are distinct populations, there is some crossover in health inequalities for these groups as part of their nomadic lifestyle. Gypsy and Traveller people have poor access to healthcare generally, with difficulty in registering with GPs and poor access to services as a result - including health screening, home visits and access to secondary health care. For example, in 2016 to 2017, Gypsy or Irish Traveller people aged 65 and over had the lowest health-related quality of life of all ethnic groups.^{[footnote 4]} There have been reports of breaches in equality laws as Gypsy, Roma and Traveller community members were refused care by some British GP practices. Some people from these communities report a lack of trust in health services^{[footnote 5]} - this could mean they are more likely to decline screening. Experience of discrimination from healthcare workers might also deter travellers from accessing healthcare during pregnancy and not accessing, or declining, screening.

Specifically with regards to NBS screening, a lack of continuity of care could mean these groups do not receive information to make an adequately informed choice around screening during pregnancy. Possible mitigations would need to be broader than within screening. Existing mitigations include specialist health visitors and midwives with training and awareness of Gypsy and Traveller culture.

Language

Groups who do not speak English as their first language may be less able to access health services due to language barriers. Evidence shows there are several ways in which access to primary care may be challenging for people with limited spoken English. People who do not speak English report greater barriers to accessing primary care than those who do not. They also have a poorer patient experience and are more likely to be in poor health.^{[footnote 6]} Language barriers may impact people’s ability to make an informed choice about taking up the screening offer, as well as affect them accurately providing information needed by clinicians and their ability to ask questions about the programme. To help people make an informed choice in the current NHS screening programmes, public information leaflets and videos are available in 12 languages, and these will be updated for the additional HT1 testing in the NBS programme.

The Pakistani population in the West Midlands

There is a higher incidence of HT1 in the Pakistani population in the West Midlands predominantly in Birmingham.^{[footnote 7]} ^{[footnote 8]} A study showed that of 44 patients from the West Midlands with HT1, 30 (68%) were of Pakistani origin. This is over 22-fold higher than the frequency of people of Pakistani origin in other regions. This mutation was not detected in patients from any other close-by region, suggesting a founder effect from the region of origin of this population. So, this ethnic minority in this specific region would see greater levels of benefit from HT1 screening than other groups.

In some communities, fear of stigma may cause parents to decline NBS screening for their babies. A study reported that parents of varied demographic backgrounds expressed concerns about potential societal stigma and discrimination associated with the diagnostic labels of cystic fibrosis and sickle cell disease or being ‘carriers’ of genetic mutations for either of these conditions.^{[footnote 9]}

Age

There is a lack of evidence relating to age and uptake for the NBS programme in England.

Gender reassignment (including transgender)

It is possible in some circumstances for transgender (trans) men to become pregnant and have babies. It is known that the LGBT community are less engaged with screening. Therefore, it is possible that trans men might be less likely to engage with NBS screening.

As set out in the Public Health England blog Ensuring pregnant trans men get equal quality care, mitigation would be for all maternity departments to review their own policies to make sure they are inclusive of trans people at every step, and not to wait until the first trans person books for maternity care to check the system works.

Religion or belief

Results from a study showed that parents who declined NBS screening were more actively religious and more often indicated that alternative medicine or lifestyle is important to them when compared to participating parents.^{[footnote 10]} Moreover, more than half of the parents that declined NBS screening indicated that they were not planning to vaccinate their child for childhood infectious diseases. Declining both NBS screening and the vaccination program might therefore also be representative of decisions for a way of life. Mitigation would involve ensuring that parents or care givers have all the necessary facts and information, but then supporting their right to choose – the national screening programme is based on informed choice.

Pregnancy and maternity

There is no evidence to suggest that working arrangements or caring responsibilities impacts on uptake of NBS screening.

Marriage and civil partnership

There is no evidence that marriage or civil partnership of parents or care givers has an impact on uptake of NBS screening for babies.

Education level, socio-economic background and deprivation

Mothers with lower incomes are almost 4 times less likely to receive information prenatally about NBS screening and more likely to be informed during the suboptimal postpartum time than their higher income counterparts.^{[footnote 11]}

Respondents who participated in NBS screening made a more undisputed choice to participate (p less than .001), while NBS screening non-participants indicated having more doubt (p less than .001). From the study of all respondents who participated in NBS screening, respondents with a high educational level had more knowledge about NBS (difference of 0.75, p less than 0.001) and a more positive attitude towards NBS screening (difference of 0.46, p less than 0.001), compared to respondents with a low and middle educational level.

Unassisted birth or ‘freebirth’

This is where a person chooses to give birth at home or somewhere else without the help of a healthcare professional such as a midwife. Unassisted birth is a choice, and is not the same as giving birth at home before a planned midwife has time to arrive. If someone has an unassisted birth they must notify the birth of the baby to a relevant public body within 36 hours. Once the birth has been notified, the baby is given an NHS number. There is very little research on unassisted or freebirth. The number of freebirths in the UK and the outcome of these births are unknown. This is because women often disguise their choice of a freebirths as born before arrivals (BBAs) - where a baby is born before a pregnant person has time to get to the hospital. Consequently, we do not have reliable and accurate quantitative research (research that relies on numbers and statistics) that focuses on freebirth. It is possible that some people do not register their babies and so are not offered NBS screening, or once they are offered NBS screening they decline. Mitigation would involve ensuring that parents or care givers have all the necessary facts and information, but then supporting their right to choose - the national screening programme is based on informed choice.

Anti-vaxers and anti-screeners

Some people are generally anti medical care, including vaccinations and screening tests. It is their choice to decline NBS screening for their baby, but mitigation would involve ensuing that parents or care givers have all the necessary facts and information, and then supporting their right to choose - the national screening programme is based on informed choice.

Homeless people

Although it is not necessary to have a home or proof of address to access medical care (including antenatal and postnatal care), 8% of homeless people are not registered with a GP^{[footnote 12]}. However, generally most homeless pregnant people will give birth in hospital. There is lack of information about whether uptake of the NBS screening offered at home when a baby is 5 days old is impacted. Mitigation would be to offer NBS screening before discharging patients who are known to be homeless.

People in detained estates or secure settings

Women and babies in prison are entitled to receive the same care and support during pregnancy and birth as women in the community. Pregnant women in secure settings are offered antenatal and newborn screening as part of standard NHS care. NBS screening should be undertaken on day 5 after birth by a community midwife visiting the secure setting. The baby will have a GP outside the secure setting who is responsible for their care. The baby will not be the responsibility of the prison primary care service.

Question 5

Engagement and involvement

Accepted Answer

NHS England has equality and diversity leads both centrally and at a local level. These individuals were consulted on the content of this assessment.

Due to the exceptionally high coverage of NBS screening (96%) it is difficult to identify and engage decliners. The information presented above includes evidence provided by teams that have engaged with decliners at local level and used joint strategic needs assessments to identify and address community needs.

Question 6

Engaging stakeholders

Accepted Answer

A 3-month consultation was hosted on the UK NSC website regarding the suggested addition of tyrosinaemia to the NBS screening programme. Direct emails were sent to 19 stakeholders. The initial public consultation closed in March 2022. This was extended until 2 May 2022 because of the low response rate. A total of 5 consultation responses were received. The consultation comments received from:

the British Association for the Study of the Liver (BASL)
the Royal College of Paediatrics and Child Health
the Royal College of General Practitioners
Genetic Alliance UK
Metabolic Support UK

The UK NSC recommendation page on tyrosinaemia screening includes a link to the June 2022 coversheet containing the consultation responses.

Screening for tyrosinaemia would be an addition to the existing NBS screening programme. As such, stakeholders are more often engaged with the overall programme and not necessarily specifically regarding this added condition.

NHS laboratories have been engaged to ensure that the correct tests are available and implemented. Work will also be undertaken to ensure that changes to the public-facing information leaflets and informed consent documentation are tested before publication.

The expert sub groups (which include user representatives) are shaping the addition to the programme and will consider wider training and information resources.

Question 7

Summary of analysis

Accepted Answer

Coverage of NBS screening is very high (96%). The numbers of people that decline the test are so small that it is difficult to draw any significant conclusions - and therefore make appropriate plans to mitigate.

There is some evidence that declining uptake could be associated with confusion about what is being screened for. NBS screening is a universal offer for all babies. In terms of it being fair and equal, it must ensure that all parents are offered screening for their babies. Information leaflets, and training for staff, focuses on ensuring parents and care givers are fully informed so they can make an informed choice about screening for their baby.

Movers in have lower coverage (76%), therefore extra focus should be placed on identifying new parents in this category and offering them NBS screening for their baby.

Generally, those who decline NBS screening decline it in totality. People do not refuse testing for certain specific conditions but accept for others. The decliners of NBS screening are so low it is hard to draw robust conclusions from such small populations. Conclusions are mainly ‘best guesses’ based on the information available.

Overall impact

Before HT1 was introduced to NBS screening, families with a history of HT1 could seek screening. Families without known family history would only discover their child had HT1 when they developed symptoms - by which time the treatment nitisinone is less effective. Adding HT1 to the NBS programme creates a more equitable offer as all parents will have early access to screening and therefore to the necessary treatment for their baby where needed.

As HT1 only impacts around 7 babies a year, and NBS screening coverage is at 96%, the likelihood of a baby with HT1 being born to a family who declines screening is slim.

Impact on equalities

The NHS monitors uptake of NBS screening and implements appropriate mitigations on a localised basis where necessary.

Monitoring and evaluation

The NHS will continue to monitor uptake and coverage for NBS and report data publicly.

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