Guidance

8. Programme overview

Updated 8 October 2024

1. General principles of screening

Population screening is the process of identifying healthy people who may be at increased risk of a disease or condition. The screening provider then offers information, further tests and treatment. This is to reduce associated risks or complications.

2. Aims of the programme

The NBS screening programme aims to:

• offer all eligible babies timely screening
• support parents to make an informed choice about screening for their baby
• refer all screen positive babies to diagnostic and clinical care within an effective timeframe
• provide equal access to high quality screening across England
• record all screening results on a child health information system and give parents a copy
• minimise harmful effects of screening, including anxiety, inaccurate information and unnecessary investigation

It is a complex programme delivered by a range of organisations working together.

3. Service specification and screening pathway

The national service specification for NBS screening (No. 19) outlines the services and quality indicators that NHS England expects and which meet UK National Screening Committee (UK NSC) recommendations and standards.

Healthcare professionals must be familiar with the NBS screening pathway and timeframes for referring screen positive babies (see standard 11). Checks and audits are specified to help reduce mistakes and delays in NBS screening.

4. Screening Quality Assurance

To deliver a screening programme a system of checks needs to be in place to reduce the probability of failure and make sure that the programme continuously improves. The antenatal and newborn screening programmes have a defined set of standards that providers have to meet to make sure programmes are safe and effective.

4.1 Screening Quality Assurance Service

The Screening Quality Assurance Service (SQAS) assesses the quality of local screening programmes and checks that they are operating within these standards and delivering the expected benefits.

Quality assurance covers the entire screening pathway; from identifying who is eligible for the screening programme, through to referral and treatment. This process makes sure that pregnant women and their babies have access to a high quality service wherever they live.

For more information see the programme specific operating model for quality assurance of the NHS antenatal and newborn screening programmes.

4.2 Laboratory quality assurance

An external quality assessment (EQA) scheme monitors the quality of laboratory assay performance. The United Kingdom National External Quality Assessment Service (UK NEQAS) provides this scheme. The EQA scheme assesses laboratories on the precision and accuracy of:

• analytical steps
• molecular genetics (for cystic fibrosis and medium-chain acyl-coA dehydrogenase deficiency screening)

4.3 United Kingdom Accreditation Service

Laboratories undertaking NBS screening must be accredited by the United Kingdom Accreditation Service (UKAS). There must be a member of staff at consultant level responsible for NBS screening with defined lines of accountability for all aspects of the service.

4.4 Managing safety incidents

Safety concerns and incidents require special attention and management because:

• incidents can affect large number of service users
• poor quality screening can do more harm than good
• incidents can affect public confidence in a screening programme
• investigation and dissemination of learning from incidents should be shared with NHS screening programmes to prevent incidents elsewhere and to inform guidance and training

The managing safety incidents in NHS screening programmes guidance applies to all organisations that provide NHS screening programmes in England whether an NHS trust, NHS foundation trust, general practitioner or private provider. This guidance details the accountabilities for reporting, investigating and managing NHS screening programme safety incidents. It covers the management of safety concerns, safety incidents and serious incidents in screening programmes.

5. Screening laboratories

There are 13 newborn screening laboratories in England. These are located in:

• Birmingham
• Bristol
• Cambridge
• Leeds
• Liverpool
• London (North)
• Manchester
• Newcastle
• Oxford
• Portsmouth
• Sheffield
• South East Thames
• South West Thames

Scotland, Wales and Northern Ireland each have their own newborn screening laboratory.

The UK Newborn Screening Laboratory Network (UKNSLN) is an association of the NHS laboratories that provide newborn screening services.

5.1 Laboratory guides

Newborn blood spot (NBS) screening laboratory guides are available for:

• sickle cell disease
• cystic fibrosis
• congenital hypothyroidism
• inherited metabolic diseases

These laboratory guides cover the pre analytical, analytical and post analytical steps in the newborn screening process. Detailed screening and diagnostic protocols are also included.

5.2 Status codes and subcodes

Screening laboratories and CHRDs/CHISs should use the national status codes and subcodes to record the outcomes of NBS screening. Ideally, the laboratory will send screening results to CHRDs/CHISs and NBSFS using electronic messaging.

6. Governance

The governance structure includes a regular report to the Director of Public Health England (PHE) Screening.

6.1 Blood spot advisory group

The blood spot advisory group advises on:

• delivery, development and continuous quality improvement of the screening programme
• the programme’s effectiveness and efficiency
• sharing information
• significant risks and issues and ways to mitigate these
• programme standards, education and training, information, quality assurance and research and development

The role of members is to:

• provide a 2 way communication on programme developments and issues with users in their constituency and the board
• challenge constructively
• provide advice

There are also condition specific advisory boards that support particular workstreams and projects. The chairs of these boards report to the blood spot advisory group. Ultimate decision making lies with the programme officers and directors within PHE.

6.2 Research advisory committee

Approval is required by PHE’s antenatal and newborn screening research advisory committee for all research projects relating to the NBS screening programme. The committee makes sure that the research is feasible, high quality and protects the safety of patients and the reputation of the screening programme.

6.3 Recommendations for screening

Only the UK NSC makes recommendations to Ministers and the NHS in the 4 UK countries on whether to screen for a condition. The UK NSC bases these recommendations on strict criteria and a rigorous evidence review process.