Understanding ethnic health inequalities in the genetic testing and diagnosis of familial hypercholesterolemia

  • Scheduled completion date: 04/2024


Familial hypercholesterolemia is a disorder that is typically inherited from a parent causing high cholesterol levels.  Without treatment, it can cause early heart attacks along with a higher risk of heart disease.

With some advances in clinical practice and research, a substantial gap remains in the understanding of familial hypercholesterolemia among Black, Asian and minority ethnic individuals.  In the UK, the condition can affect up to one in 250 people but more widely there could be up to 220,000 affected individuals in Britain.

The 2019 NHS Long Term Plan set an ambitious target of finding 25% of predicted patients in England over the next five years.  Due to limited data and knowledge regarding disparities in research and care for people from Black, Asian and minority ethnic individuals, the Observatory is looking to commission an organisation to add new research insights in this area; ensure limitations around clinical, genetic and population-level studies do not continue to pose risks which hamper the understanding of familial hypercholesterolemia outcomes, and outline policy recommendations to help achieve better access, experience and outcomes for our diverse communities.

The Observatory aimsto understand the burden of FH, focussing on racial disparities in access to genetic testing, diagnosis, and to provide recommendations for meaningfully addressing the gaps in treatment