The UK NSC recommendation on Phenylketonuria screening in newborns (currently in consultation)

 

This recommendation is currently being reviewed as part of the UK NSC's regular review cycle of all policies.

The review process began in Dec 2015 and is estimated to be completed by Feb 2016.

» Download the expert review for PKU (PDF document, 347KB)

The UK NSC welcomes comments and feedback on the expert review during the consultation period that lasts from 17/08/2016 until 17/11/2016. Please send comments to Screening Evidence by e-mail using this feedback form.

Please note that all consultation submissions will be published on this page when the review is complete. Full details can be found in the confidentiality and disclosure section at the bottom of this page.

Recommendation Systematic population screening programme recommended
 

Evidence to support continuation or cessation of existing screening programmes should be reviewed regularly. The process for this is currently being revised, which is why this topic does not currently have a review date. The new process will be published in due course. Each programme has an active portfolio of research, evidence and audit to support continual improvement. Find out more about phenylketonuria screening, as part of the newborn blood spot screening programme in England.

 

Find general information about population health screening.

More about PKU

Phenylketonuria (PKU) is an inherited metabolic condition where there is a defect in phenylalanine hydroxylase. This enzyme normally converts the phenylalanine in the body into tyrosine. Where there is an enzyme block the phenylalanine accumulates in the body tissues and affects the normal development of the brain causing learning difficulties.

» Read more about phenylketonuria on NHS Choices

Screening in the UK

Compare how screening is offered across the UK.

Stakeholders

Children Living with Inherited Metabolic Diseases
Genetic Alliance UK
Institute of Child Health
MetBio
National Society for Phenylketonuria
Royal College of General Practitioners
Royal College of Midwives
Royal College of Paediatrics and Child Health

The stakeholder groups will be involved when the recommendation is next reviewed. If you think your organisation should be added, please contact us. More information for stakeholders can be found in appendix C of the UK NSC evidence review process.

Confidentiality and disclosure

Information provided in response to this consultation, including personal information, may be subject to publication or release to other parties or to disclosure in accordance with the access to information regimes (these are primarily the Freedom of Information Act 2000, the Data Protection Act 1998, and the Environmental Information Regulations 2004). If you want information, including personal data that you provide to be treated as confidential, please be aware that, under the FOIA, there is a statutory Code of Practice with which public authorities must comply and which deals, amongst other things, with obligations of confidence.

In view of this it would be helpful if you could explain to us why you regard the information you have provided as confidential. If we receive a request for disclosure of the information we will take full account of your explanation, but we cannot give an assurance that confidentiality can be maintained in all circumstances. An automatic confidentiality disclaimer generated by your IT system will not, of itself, be regarded as binding on the UK National Screening Committee.

Any request for information to be treated in confidence will be taken into consideration in the publication of responses to the consultation. The UK National Screening Committee intends to publish all responses following the closure of the consultation period, however we will not publish responses from respondents who request that any of the information in their response, including personal data, should be handled in confidence. The UK National Screening Committee reserves the right not to publish or take into account any representations which are openly offensive or defamatory.

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