Hereditary Diseases

Genomic testing is delivered through the NHS Genomic Medicine Service and guided by the National Genomic Test Directory, which outlines the eligibility criteria for genomic testing. These criteria support clinicians to decide whether genetic testing is appropriate, including in cases where genetic disorders may be linked to consanguinity. Seventeen NHS Clinical Genetics Services are commissioned by NHS England and deliver a comprehensive clinical genetics and genetic counselling service that directs the diagnosis, risk assessment, and lifelong clinical management of patients of all ages and their families who have, or are at risk of having, a genetic condition. In addition, through the Genetic Risk Equity Project, NHS England is piloting and evaluating new models of care in nine sites to improve equity of access to genetic services for the small proportion of consanguineous couples at increased genetic risk. NHS England has published training modules about close relative marriage and genetic risk for midwives and health visitors, as well as guidance on how to submit data around consanguinity and pregnancy to the Maternity Services Dataset.