In 2025, researcher Maureen Ng'etich explored the diagnosis, care experiences and treatment pathways of individuals living with genetic haemochromatosis (GH) in Lincolnshire. 

Lincolnshire has a high genetic risk but limited region-specific data. The study identifies critical gaps between clinical guidelines and real-world practice through a combination of Freedom of Information (FOI) requests and a patient survey.

Key findings reveal delays in diagnosis, low rates of genetic testing, and inconsistent recognition of GH-related comorbidities. This leads to fragmented care for many patients, who often navigate multiple services before receiving appropriate treatment.

Summary booklet here

Read the full report here