This glossary of terms has been provided by Dr Emilia M Swietlik of the University of Cambridge
Informed consent is a process where individuals are fully informed about the nature, scope, risks and potential benefits of a research study before voluntarily deciding to participate. There are different types of informed consent, including:
Recall-by-genotype study aims to better understand the clinical characteristics that correspond to genetic variants of interest (sometimes called mutations) by recruiting carriers of such variants for further investigations.
Genetic testing can be conducted at various life cycle stages to provide valuable information about an individual’s genetic makeup, health risks, and potential implications for themselves and their family members. Here are some examples of genetic testing at different life stages:
Preconception genetic testing also called carrier screening, is a type of genetic test that can tell you whether you carry a gene for certain genetic disorders. When it is done before pregnancy, it allows you to find out your chances of having a child with a genetic disorder.
Preimplantation genetic testing is a procedure which involves checking the genes or chromosomes of embryos for a specific genetic variant (mutation). Because the embryos need to be tested in a lab, a woman will need to have IVF, even if their partner has no fertility problems. Embryos which have been tested and are free of the condition will be placed back into the womb to hopefully continue to develop.
Prenatal genetic testing also called Chorionic Villus Sampling (CVS), is a prenatal test that involves taking a sample of some of the placental tissue. This tissue contains the same genetic material as the foetus and can be tested for chromosomal abnormalities and some other genetic problems.
Neonatal genetic testing is a test that usually involves a small blood sample (“heel stick”) from a new-born the blood is subsequently sent to a laboratory for testing for a panel of genetic disorders.
Paediatric genetic testing is a test that involves collecting blood or saliva to diagnose a hereditary condition in a child, to determine their chances of developing a hereditary condition, or to find out if they’re a carrier of a genetic mutation.
Adult genetic testing is a test that involves collecting blood or saliva to diagnose a hereditary condition in an adult.
Posthumous genetic testing also called post-mortem genetic testing, is testing that is performed on a sample after an individual has died. The goal of post-mortem genetic testing is often to try to find out about a cause of death.