CBGC Genetic Counselling Certification (CCGC) key terms

A process of communication in which a patient voluntarily agrees to a genetic test or procedure after understanding its purpose, risks, benefits, alternatives, and implications for themselves and family members.

A helping relationship in which a trained professional assists individuals and families to understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease.

A structured evaluation of a client's emotional, social, cultural, and family context, including beliefs, coping style, support systems, and concerns that may influence genetic testing decisions and adaptation to results.

The process of estimating the probability that a person or family carries a pathogenic variant or will develop a genetic condition, using pedigree analysis, family history, and sometimes empirical or molecular data.

A standardized diagram of a family's medical history using symbols and lines to show relationships, affected status, and inheritance patterns across generations, used to assess genetic risk.

A statistical method that updates a prior probability of carrying a genetic variant by incorporating new information such as test results, ages at onset, or unaffected relatives, to produce a more precise posterior risk.

The proportion of individuals with a specific pathogenic variant who exhibit any clinical signs of the associated condition; reduced or incomplete penetrance means not all carriers develop features.

The phenomenon in which individuals with the same genetic condition or pathogenic variant show a range of clinical severity or different symptoms, even within the same family.

The situation in which a single clinical phenotype can be caused by pathogenic variants in any one of several different genes, or by different variants within the same gene.

The relationship between a specific genetic variant or genotype and the observable clinical features or severity of a condition, which helps predict outcomes and guide management.

The characteristic way a genetic trait or condition is transmitted in families, such as autosomal dominant, autosomal recessive, X-linked, or mitochondrial, which informs recurrence risks and testing strategies.

The probability that a genetic condition will occur again in a family, for example in a future child of the same parents or in other relatives, calculated from the inheritance pattern and family data.

An individual who has one copy of a pathogenic variant for a recessive condition but typically does not show symptoms, and who can pass the variant to offspring.

Genetic testing offered to individuals or couples to identify carriers of recessive or X-linked conditions, so they can learn their reproductive risk and consider options.

Testing performed during pregnancy, such as chorionic villus sampling or amniocentesis, to detect fetal genetic or chromosomal conditions and inform pregnancy management and decision-making.

A non-invasive prenatal screening method that analyzes placental DNA fragments in maternal blood to estimate the risk of common chromosomal aneuploidies; it is a screening test, not a diagnostic test.

Genetic testing of embryos created through in vitro fertilization before implantation, used to select embryos free of a specific pathogenic variant or chromosomal abnormality.

Genetic testing of an asymptomatic person to determine whether they carry a pathogenic variant that may cause a future condition, often requiring pre-test counselling about implications and options.

A condition in which an inherited pathogenic variant in a cancer susceptibility gene substantially increases the risk of one or more cancers, often with earlier onset and familial clustering.

Ongoing medical monitoring, such as imaging or colonoscopy, offered to individuals at increased genetic risk to detect disease early; it is distinct from risk-reducing surgery.

A surgical procedure, such as prophylactic mastectomy or salpingo-oophorectomy, performed to lower the risk of cancer in individuals with a known high-risk pathogenic variant.

A genetic alteration that is known to cause or increase the risk of a disease, as classified by standardized evidence-based criteria; it is distinguished from benign or uncertain variants.

A genetic change whose association with disease is not yet established; it should not be used alone to make clinical decisions, and management is based on family history and other evidence.

High-throughput DNA sequencing technology that allows simultaneous analysis of many genes or the whole genome, producing large datasets that require careful interpretation and variant filtering.

Genetic results unrelated to the original reason for testing that may have health implications for the patient or family, raising questions about disclosure and consent.

Test performance measures: sensitivity is the proportion of affected individuals correctly identified, and specificity is the proportion of unaffected individuals correctly identified as negative.

The probability that a person with a positive test result truly has the condition; it depends on test sensitivity, specificity, and the prevalence of the condition in the population tested.

The ethical and legal duty to protect a patient's genetic information from unauthorized disclosure, while recognizing limited exceptions such as patient consent or legal requirements.

The ethical consideration that a genetic professional may have an obligation to inform at-risk relatives about a hereditary condition when the patient refuses disclosure, balanced against confidentiality.

Unfair treatment of an individual based on genetic information, such as in employment or insurance; many jurisdictions have laws limiting such use, and counsellors must know local protections.

Emotional responses to genetic diagnoses, pregnancy loss, or the awareness of a hereditary condition, which may include sadness, anger, and adjustment challenges requiring supportive counselling.

The process of directing a client to appropriate specialists or services, such as cardiology, oncology, or support groups, based on genetic findings and identified needs.

Clinical decision-making that integrates the best available research evidence, professional expertise, and patient values and preferences to guide genetic counselling and management.