genetic research: a glossary of terms

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:

• study-specific consent is consent for a specific research project. by signing study-specific consent, the subject agrees to participate in a single research study that may involve a particular drug, device, or disease process. if the subject wants to participate in a different study, he or she must re-consent to the new study.

• dynamic consent is an informed consent model which enables research participants to revise and change their choices regarding their participation in research over time. dynamic consent consists of an interactive platform and an ongoing communication approach that keeps participants informed on the development of the study over time and allows control on their end.

• broad consent is consent for an unspecified range of future research subject to a few content and or process restrictions. broad consent is less specific than consent for each use but narrower than open-ended permission without any limitations (i.e. “blanket” consent).

• blanket consent refers to a process by which individuals donate their samples without any restrictions.

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.