Rationale
An individual’s genetic makeup has an impact on their development as well as their predisposition to disease. Genetic variation and mutation may cause disease directly or interact with various experiential and environmental factors to influence development and medical conditions.
Causal Conditions
(list not exhaustive)
- Chromosomal (e.g., aneuploidy, rearrangements)
- Monogenic (single gene mutations)
- Mendelian (e.g., autosomal dominant)
- Non-Mendelian (e.g., mitochondrial, epigenetic)
- Polygenic/multifactorial inheritance disorders (e.g., type 2 diabetes, neural tube defects)
- Prenatal environmental influences (e.g., fetal alcohol spectrum disorder, neural tube defects)
- Postnatal environmental influences (e.g., cancer, type 2 diabetes)
Key Objectives
Given a patient with evidence of a genetic condition, the candidate will diagnose the cause, severity, and complications, and initiate an appropriate management plan. It is important to recognize situations where a person or a population is at risk for a genetic or epigenetic condition.
Enabling Objectives
The candidate will recognize where disease in a patient might reflect the existence of risk factors inherent to a given population (e.g., Tay-Sachs disease).
Given a patient presenting with clinical findings suggestive of a genetic etiology, the candidate will
- list and interpret relevant clinical findings, including those derived from
- a family tree, ethnic or geographic origin, social determinants of health, and obstetrical, medical, and family history,
- a physical examination of the patient and of selected family members if needed;
- list and interpret relevant laboratory and diagnostic imaging tests;
- construct an effective initial management plan, including, if required:
- referral for genetic counselling,
- examination of reproductive options, and
- referral for specialized evaluation, genetic testing, community resources, and social and psychological support services.
