Family genetic testing for the UK’s most common undiagnosed genetic condition
Genetic haemochromatosis is the UK’s most common inherited genetic condition, directly affecting over 380,000 people. Although it is commonplace, the condition is significantly under-diagnosed in the UK. Untreated, the condition can lead to iron overload, where the body is unable to process excess iron. Excess iron is extremely toxic. Genetic haemochromatosis can cause liver disease, cancer, heart disease, chronic fatigue, diabetes, severe joint pain, sexual health issues and neurological issues. Early diagnosis saves lives.
This preventative health initiative aimed to provide genetic cascade screening for families who were at risk of GH, where one or more relatives had already been diagnosed. Following a survey of our community in 2019, we discovered that the majority of families at risk had experienced difficulties in getting relatives tested for the condition through the NHS. The project was setup to address this unmet need.