PARLIAMENTARY WRITTEN QUESTION
Haemochromatosis: Diagnosis (11 September 2020)

Steps to improve diagnosis of rare conditions, including genetic haemochromatosis, are being taken through the implementation of the UK Strategy for Rare Diseases, available at the following link:

https://www.gov.uk/government/publications/rare-diseases-strategy

In October 2019, the national conversation on rare diseases survey was launched to identify the major challenges faced by those living and working with rare diseases. We received almost 6,300 responses which, alongside the lessons learned from the experiences of rare disease patients during the COVID-19 pandemic, will be used to shape the post-2020 UK Rare Diseases Framework which will replace the Strategy.

The Genomic Medicine Service is supported by the National Genomic Test Directory which specifies the genomic tests that are commissioned by the National Health Service in England. Genetic haemochromatosis is included in the Test Directory.