In this episode, we take a deeper look at Genomics with Mary Tanay, Macmillan Nurse Consultant in Genomics and President-Elect of the UK Oncology Nursing Society, alongside Tootie Bueser, Director of Nursing and Midwifery. Together, we explore the increasing role of genetic testing in cancer care, its impact on decision-making, and how genomics can be an integral part of everyday discussions and practice.
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Links from the episode:
Macmillan Genomics Toolkit Genomics Education Programme- NHS England
Macmillan Genomics Toolkit: BreastThe National Genomic Test DirectoryNICE (National Institute for Health and Care Excellence) websiteDefitions of key terms:
Germline mutation - A gene change in a body's reproductive cell (egg or sperm) that becomes incorporated into the DNA of every cell in the body of the offspring. These gene changes are called germline mutations are passed on from parents to offspring. Also called germline variant.
Somatic – Refers to cells and changes within them not related to reproductive cells (egg or sperm), and are not passed to offspring. These changes are called somatic mutations that can occur spontaneously due to due to age and errors in DNA replication or repair, or environmental factors such as UV or chemical exposure. Also called somatic variant.
Proband – An individual affected by a genetic condition or who are at risk of a genetic condition. The proband is usually the first affected family member.
DPYD – Refers to the gen codes for the enzyme dihydropyridine dehydrogenase crucial for metabolising fluoropyrimidine based chemotherapy drugs like 5-FU. If people have a deficiency they are at higher risk of developing severe side effects so will need treatment adjustments.
MMR – Mismatch Repair deficiency is where the MMR proteins are faulty or missing, often associated with Lynch Syndrome and testing can impact on need for screening, earlier diagnosis and treatment decisions.
MSI – Microsatellite Instability where there are changes in the length of repetitive DNA sequences called microsatellites. The microsatellite repetitive DNA sequences are found throughout the genome. MSI occurs when the number of repeats in a microsatellite sequence changes due to errors in DNA replication are not corrected by the MMR system. Important in certain cancers like colorectal, endometrial and gastric cancers and often associated with Lynch Syndrome.
WGS – Whole Genome...
