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)

1. Chromosomal (e.g., aneuploidy, rearrangements)

2. Monogenic (single gene mutations)

   1. Mendelian (e.g., autosomal dominant)

   2. Non-Mendelian (e.g., mitochondrial, epigenetic)

3. Polygenic/multifactorial inheritance disorders (e.g., type 2 diabetes, neural tube defects)

   1. Prenatal environmental influences (e.g., fetal alcohol spectrum disorder, neural tube defects)

   2. 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).