Genetics Module

Question 1

Incidence of birth defects (%)

Answer 1

3%

Question 2

% of infant deaths linked to genetic causes

Answer 2

20%

Question 3

% of pediatric hospitalizations due to genetic conditions

Answer 3

12%

Question 4

What does a family history do

Answer 4

provide context of genetics in primary care medicine by gathering info about
- hereditary disorders
- inheritance patterns
- recurrence risks
- at-risk individuals and those not at risk

Question 5

The rule of two/too

Answer 5

too tall, short, early, many, young, different

two tumors, generations, in the family, birth defects

Question 6

SCREEN mnemonic

Answer 6

SC - some concerns
R - reproductive problems
E - early disease/death/disability
E - ethnicity
N - non-genetic factors

Question 7

Common red flags in family history

Answer 7

• reproductive/prenatal history issues
• early or unexpected death
• cognitive and/or behavioral disorders
• growth and stature disorders
• sensory organ deficits

Question 8

Autosomal Dominant

Answer 8

• consecutive generations
• male and female carriers/affected
• male to male transmission implies AD

Question 9

Autosomal recessive

Answer 9

• not in every generation
• can affect only one member
• found in both males and females

Question 10

X-linked recessive

Answer 10

• only males affected/more severe in males

Question 11

Multifactorial

Answer 11

• no evident pattern
• multiple individuals affected in multiple generations
• can be caused by both genetics and environment

Question 12

HIPAA stands for

Answer 12

Health insurance portability and accountability act