ABGC Certification Examination (CGC credential) key terms

The process of explaining the purpose, benefits, risks, limitations, and alternatives of testing or research so a patient can voluntarily decide whether to proceed, documented in the record.

A structured conversation before genetic testing that covers the reason for testing, what results can and cannot reveal, possible outcomes, cost, and the patient's goals and concerns.

The discussion after results return that interprets findings in the patient's clinical and family context, addresses emotional impact, and plans follow-up, cascade testing, and risk management.

The ethical principle that patients have the right to make their own healthcare decisions according to their own values, even when clinicians disagree with the choice.

The ethical obligation to act in ways that promote the patient's and family's welfare, balancing potential benefits of testing and intervention against burdens.

The duty to avoid causing harm, including psychological, social, insurance, and family harm that genetic information can produce if shared or acted on carelessly.

The professional duty to protect a patient's genetic and medical information from disclosure without permission, with limited exceptions defined by law and safety.

The limited obligation, varying by jurisdiction, to disclose genetic risk to at-risk relatives or authorities when serious preventable harm is likely and the patient refuses to share.

A counseling stance that supports patient decision-making by providing balanced information and exploring values without steering the patient toward a particular choice.

A collaborative process in which clinician expertise about risks and options is combined with the patient's preferences and circumstances to reach a jointly agreed plan.

Addressing emotional, family, and social responses to genetic risk, including grief, guilt, anxiety, and relationship strain, using supportive listening and referral when needed.

Unfair differential treatment based on genetic information, such as in employment or insurance, addressed in some countries by protective legislation and in others by policy guidance.

Systematic testing of at-risk relatives after a pathogenic variant is found in a family, offered through the proband's communication or the genetics service where permitted.

The first person in a family through whom a genetic condition or variant is identified and who anchors the pedigree and cascade testing.

A standardized diagram of family relationships and health history using defined symbols and lines to display inheritance patterns and identify relatives at risk.

Structured information about health conditions, ages at diagnosis, and relationships across generations, used to estimate risk and decide whether testing is indicated.

A union between closely related individuals, which increases the chance that offspring inherit two copies of the same recessive variant and raises the value of carrier testing.

Laboratory analysis of DNA, RNA, chromosomes, or proteins to detect variants associated with inherited conditions, used for diagnosis, carrier status, predictive risk, or treatment decisions.

The process of grading an observed DNA change as pathogenic, likely pathogenic, uncertain significance, likely benign, or benign using defined evidence criteria.

A DNA change whose relationship to disease is not established, so it generally should not be used alone to make clinical decisions and may be reclassified over time.

A DNA change with strong evidence of causing or increasing risk for a condition, which typically triggers surveillance, treatment, or cascade testing recommendations.

Testing to determine whether a person inherits one copy of a recessive variant without having the condition, informing reproductive risk and partner testing decisions.

The chance that a condition or carrier state remains possible after a negative or uninformative test, because of test limitations, undetected variants, or incomplete family information.

Testing an asymptomatic person for a variant that indicates future risk of a condition, requiring pretest counseling about psychological and insurance implications.

How accurately a test detects the specific variant or sequence it is designed to measure, including sensitivity, specificity, and the variants the assay cannot detect.

The strength of evidence that a detected variant or test result is associated with a particular clinical condition or risk, distinct from how useful the result is for care.

The degree to which using a test result improves health outcomes or decision-making, such as by enabling surveillance, treatment, or reproductive options.

Updating a prior probability with new information such as test results or family history to calculate a posterior risk, the basis of many genetic risk calculations.

Estimating the chance that a person has or will develop a condition, or will have an affected child, by combining family history, ancestry, test results, and age-specific data.

Emotional responses to diagnosis, disability, reproductive loss, or the death of a relative, which may require acknowledgment, supportive counseling, and referral.

A patient's ability to obtain and understand health information to make decisions, which shapes how genetic concepts, risk numbers, and consent are explained.

Working with a trained interpreter rather than family members to convey genetic information accurately and preserve confidentiality when the patient's language differs from the clinician's.

Consent to a study that explains purpose, procedures, risks, data sharing, incidental findings policies, and the voluntary right to withdraw, distinct from clinical consent.

Results discovered during testing or research that were not the original target but may have medical importance, requiring a pre-agreed policy on whether and how to disclose.

Neutral discussion of choices available to people at reproductive risk, including prenatal testing, preimplantation testing, donor gametes, adoption, and choosing not to test.

Directing patients to specialists, support services, or laboratories and tracking that follow-up occurs, so that genetic information translates into actual care.