Curated Collections

Familial Hypercholesterolaemia (FH) is the most common monogenic autosomal dominant disease, with an estimated prevalence of 1 in 250 people. FH impairs the liver’s ability to remove excess LDL cholesterol from the blood, which greatly increases the incidence of premature cardiovascular disease (CVD). Currently only ~8% of FH individuals have been diagnosed in England. This highlights the need to increase diagnosis and reduce the incidence of preventable CVD in this high risk group.

Lunch & Learn is a series of webinars for nurses and midwives to gain an insight into how genomic testing is used across different areas of healthcare. Professionals will share their expertise of genomic tests available for patients through different patient pathways. These sessions are hosted by the North Thames Genomic Service and South East Genomic Medicine Service.

Lynch Syndrome is an inherited condition which results in an increased risk of certain cancer types. These resources provide information on Lynch syndrome and the NHS GMS National Lynch Syndrome project which is led by the North Thames GMSA.

Pharmacogenomics combines the science of pharmacology and of the genome to describe the influence of genes on an individual’s response to medicines.

On 14 July 2022 the North Thames Genomic Medicine Service (GMS) held an event showcasing how genomic medicine is transforming healthcare in our region. Here you can watch recordings of some of the day’s talks and hear how the North Thames GMS is delivering new genomic tests and redesigning pathways to bring the benefits of genomics to patients across North London, Essex, and Hertfordshire.