Glossary of terms used in this course
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
A
B
Biobank
A biobank is a repository of biological samples (e.g., blood, saliva, tissue) collected from individuals for research purposes. These samples are usually linked with health and lifestyle data, and access is typically restricted to accredited researchers for defined studies.
C
Cascade testing
Cascade testing is the process of offering genetic testing to biological relatives of an individual with a known genetic variant, to determine whether they also carry the variant.
Comorbidities
When two or more health conditions affect the same person at the same time. For example, a patient with diabetes may also have high blood pressure.
Coproduction
Researchers, patients, and others working together in a way that shares power and decision-making. NIHR guidance
D
DNA (Deoxyribonucleic acid)
A double-stranded molecule that contains genetic information. DNA is made up of four chemical bases: adenine (A), cytosine (C), guanine (G), and thymine (T). It provides the instructions for building and maintaining living organisms.
E
Engagement
Engagement in research refers to collaboration between researchers and the public that may range from sharing information to active participation in governance and decision-making. For example, in Canada, engagement includes active collaboration in governance and research processes, while in the UK it often focuses more on providing and disseminating information.
Epigenetics
The study of changes in how genes are switched on or off, without altering the DNA sequence itself. Sometimes described as ‘what life does to your DNA,’ epigenetic changes can be influenced by environment, lifestyle, or ageing.
Exome
The exome refers to the protein-coding regions of the genome, which make up about 2% of human DNA. These regions are particularly important because they provide the instructions for producing proteins, which are essential for cell function.
F
G
Gene/genetic variant
A genetic variant is a difference in DNA sequence compared with a reference genome. Historically called a “mutation,” the term “variant” is now preferred as it avoids judgmental connotations. Variants can be benign, pathogenic, or of uncertain significance.
Genetic disorder
A health condition caused, in whole or in part, by one or more genetic variants.
Genetics
The study of heredity and individual genes.
Genomics
Genomics is the study of the entire genome – the complete set of DNA in an organism – including interactions among genes, environmental influences, and their combined effects on health and disease.
H
Health equity
“Equity is the absence of unfair, avoidable or remediable differences among groups of people, whether those groups are defined socially, economically, demographically, or geographically or by other dimensions of inequality (e.g. sex, gender, ethnicity, disability, or sexual orientation). Health is a fundamental human right. Health equity is achieved when everyone can attain their full potential for health and well-being.” source WHO
Health technology assessment
A systematic and multidisciplinary evaluation of health technologies and interventions, assessing both their direct and indirect consequences. HTA is used by governments and health systems to decide whether new drugs or medical devices should be funded and adopted. WHO source
I
Institutional Review Board (IRB)
See also Research Ethics Board (REB)/Research Ethics Committee (REC) R
Involvement
In this context, involvement means an active partnership between patients, carers, and members of the public with researchers, where their perspectives influence and shape research priorities, design, and conduct. People in Research source
J
K
L
M
Metabolomics
The study of metabolites – the small molecules produced during metabolism. These reflect chemical activity within cells and can provide insights into health, disease, and environmental influences.
N
O
Omics
A term used to describe large-scale studies of biological molecules that make up cells, tissues, or organisms. Omics approaches aim to understand how these molecules work together to influence health and disease. Examples include:
- Genomics – the study of the genome (all of an organism’s DNA).
- Exome – the ~2% of the genome that codes for proteins.
- Transcriptomics – the study of the transcriptome (all RNA molecules in a cell), which shows which genes are active.
- Proteomics – the study of the proteome (all proteins in a cell or organism).
- Metabolomics – the study of metabolites (small molecules like sugars, fats, or amino acids that are involved in metabolism).
Together, these fields provide a “big picture” of how our bodies work at a molecular level, and how changes in these molecules can affect health.
P
Partnership
Patient partnership in research is when researchers work together with people with lived expertise of a health condition to develop and deliver research. CIHR source
Patient
Someone with a health condition.
Patient advocate
Someone who speaks up for patients in discussions about what is important to them. Typically someone with lived experience of a particular health condition, either directly or as a caregiver.
Patient partner
Someone with lived experience of a health condition, whether as the direct recipient or a caregiver, who contributes to research or healthcare delivery as a partner in the process.
Pharmacogenomics
Pharmacogenomics studies how genetic variation influences an individual’s response to medications, with the goal of optimising drug effectiveness and minimising adverse effects.
PPIE (Public and Patient Involvement and Engagement)
An umbrella term describing types of activities where patients and the public contribute to and collaborate in health research.
Precision medicine
Precision medicine is an approach to disease prevention and treatment that tailors healthcare to the individual, using information from their genome.
Proteomics
The study of the proteome—all the proteins produced in a cell, tissue, or organism. Proteins carry out most cellular functions.
Q
R
Reference genome
A reference genome is a digital DNA sequence that represents a typical example of a human’s complete set of genetic material. It serves as a standard or baseline for comparison when analysing genetic variants in individuals.
Research participant
A person who voluntarily takes part in a research study. Participants may be patients, relatives, or healthy volunteers, depending on the study design.
Research Ethics Board (REB)/Research Ethics Committee (REC)
An independent body that reviews research proposals to ensure they meet ethical and scientific standards, protecting the rights, safety, and well-being of participants. Depending on the country, these groups may have slightly different mandates. PAHO video resource
RNA (Ribonucleic acid)
A single-stranded molecule like DNA. RNA is made up of four chemical bases: adenine (A), cytosine (C), guanine (G), and uracil (U). It plays a crucial role in carrying instructions from DNA and directing protein synthesis.
S
T
Transcriptomics
The study of the transcriptome – all RNA molecules produced in a cell or tissue. It provides a snapshot of which genes are active and being used at a given time.
Translational research
Research that turns discoveries from basic science into practical applications that improve human health, such as new treatments, tests, or medical procedures
U
V
W
X
Y
Z
The Power of Patient Advocacy in Genomics: Influencing Research, Clinical Practice and Decision Making
The Power of Patient Advocacy in Genomics: Influencing Research, Clinical Practice and Decision Making
