Haemochromatosis: Diagnosis

(asked on 17th May 2024) - View Source

Question to the Department of Health and Social Care:

To ask the Secretary of State for Health and Social Care, what assessment she has made of the adequacy of diagnosis rates for genetic haemochromatosis.


Answered by
Andrew Stephenson Portrait
Andrew Stephenson
This question was answered on 22nd May 2024

While data is not held centrally on diagnosis rates for genetic haemochromatosis, genomic testing for haemochromatosis is available through the NHS Genomic Medicines Service (GMS) for patients in England who show an unexplained iron overload, suggestive of genetic haemochromatosis. Any clinician who suspects haemochromatosis can order this testing via local genomic laboratory hubs.

Seven NHS GMS Alliances play an important role in supporting the strategic systematic embedding of genomic medicine in end-to-end clinical pathways and clinical specialities. They help to achieve equitable access to standardised end-to-end pathways of care, inclusive of genomic testing, clinical genetics, and genomic counselling services. The alliances also raise awareness among clinicians and the public of the genomic testing available through the National Health Service and drive this embedding across all providers within their geography, from primary and community care to secondary and tertiary care.

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