Curated Collections

The circulating tumour DNA (ctDNA) pilot project launched in 2022 and is now in its 3rd phase. The pilot study aimed to evaluate how liquid biopsy testing could be brought into an established NHS lung cancer diagnostic pathway. Liquid biopsy tests, also known as circulating tumour DNA (ctDNA) tests, sequence fragments of tumour DNA that are released into the blood stream.

This curated collection provides resources for clinicians around reading a ctDNA report as well as providing videos to help explain the test to patients.

Pharmacogenomics brings together the scientific approach of pharmacology and genomics to help guide clinicians to tailor a person’s treatment based on a genetic report across rare diseases, cancer and for commonly prescribed medications. This collection of resources comes from a Pharmacogenomics Study Day (held in September 2024).

You can also listen to more about this topic through the pharmacogenomics series of our podcast – Genomics Now (available on Podbean or through all podcast services).

Cystic fibrosis (CF) is a common genetic disease in the UK. Some individuals are able to access genetic testing to determine if they are a carrier of CF, helping them understand their chance of having a child with CF. CF carrier testing can now be ordered by GPs. This curated collection is designed for GPs who may be ordering this test in the future. To learn how this is relevant for your practice, click to discover our Bitesize resources and Toolkit.

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.