The UK NSC recommendation on Galactosaemia 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 Nov 2019 and is estimated to be completed by Dec 2020.

» Download the consultation papers for Galactosaemia (PDF document, 1.70MB)

The UK NSC welcomes comments and feedback on the consultation papers during the consultation period that lasts from 11/06/2020 until 03/09/2020. Please send comments to Screening Evidence team 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 not recommended
 

Find general information about population health screening.

Why is screening not recommended by UK NSC?

Screening for galactosaemia in newborns is not recommended. This is because:
  • screening and treatment do not prevent long term problems caused by the disease
  • screening would identify many babies who may never become ill
  • some babies would become ill before test results are available
  • current screening tests already identify some babies with the condition

More about Galactosaemia

Galactosaemia is a rare genetic condition. Babies born with it are unable to convert the sugar present in milk into glucose, the sugar used by the body. Symptoms include jaundice, failure to thrive, feeding difficulties and kidney disease.

» Read more about galactosaemia on the Contact a Family website

Stakeholders

ArchAngel MLD Trust
British Association of Perinatal Medicine
British Inherited Metabolic Disease Group
Clinical Genetics Society
Faculty of Public Health
Galactosaemia Support Group
Genetic Alliance UK
Institute of Child Health
Metabolic Support UK
MetBio
Royal College of General Practitioners
Royal College of Midwives
Royal College of Paediatrics and Child Health
Royal College of Physicians
Royal College of Physicians and Surgeons of Glasgow
Royal College of Physicians of Edinburgh
UK Newborn Screening Laboratories Network

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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