Exam 1

Question 1

Mendelian inheritance

Answer 1

Patterns of inheritance from organisms that reproduce sexually.
Autosomal- involving the autosomes (first 22 pairs of chromosomes)
Sex-linked- involving either of the 2 sex chromosomes (23rd pair for most ppl)

Question 2

Autosomal dominant

Answer 2

Mendelian inheritance
Most inherited cancer syndromes, Huntington disease
A gene is altered and passed down in the family throughout every generation. M or F can get but you cannot pass it down unless you have it.

Question 3

Autosomal recessive

Answer 3

Mendelian inheritance
Cystic fibrosis, spinal muscular atrophy.
Occurs when a child inherits one copy of a mutated gene from each parent.

Question 4

X-linked recessive

Answer 4

Mendelian inheritance
Duchenne/Becker muscular dystrophy
Typically only affects men because all X chromosomes would need to be mutated

Question 5

X-linked dominant

Answer 5

Mendelian inheritance
Fabry disease
A single mutation on the X chromosome can affect men or women

Question 6

Non-mendelian inheritance

Answer 6

Complex disease

Polygenic or multifactorial

Question 7

Polygenic

Answer 7

Action of many genes interacting with one another- the effect is cumulative, so no one gene is dominant to the others.

Question 8

Multifactorial

Answer 8

The action of multiple factors, such as two or more genes and the environment, interacting with one another

Question 9

How common is non-mendelian inheritance?

Answer 9

Very

Virtually all common diseases are polygenic and/or multifactorial

Question 10

Liability

Answer 10

= Heritability

A measure of how well differences in peoples genes/alleles account for differences in their traits

Question 11

Jar model

Answer 11

Every begins with a jar filled to different extents with genetic factors.
As people gain experiences and trauma, the jar fills with environmental factors.
You can male the jar bigger by having a supportive environment.

Question 12

Breast cancer and neoadjuvant chemo

Answer 12

When mendelian genetics and complex disease interact.
The PARP protein repairs broken DNA, preventing cell death in normal individuals.
In chemotherapy, PARP inhibitors prevent this repair and lead to apoptosis of the cancer.
Whether the cancer developed due to inherited HBOC syndrome or non-inherited mutations, PARP inhibitors still target the cells.

Question 13

Atomoxetine

Answer 13

Treatment of ADHA, primarily metabolized by CYP2D6.
Expression of ADHD phenotype is genetically complex, but the response to atomoxetine is at least partially determined by simple mendelian genetics

Question 14

Unexpected genetic findings

Answer 14

Can be actionable or non-actionable
Test via WES or WGS
Larger tests increase the chance of getting unexpected results unrelated to testing

Question 15

Genetic information

Answer 15

Information about an individuals genetic tests, FMH, family genetics, genetic services, genetic information about a fetus

Question 16

Does HIPAA protect genetic information?

Answer 16

No

Question 17

GINA

Answer 17

Forbids discrimination on the basis of genetic information when it comes to any aspect of employment
Illegal to harass due to genetic information.
Employers must keep genetic information private and are prohibited from sharing.
Protects access to health insurance

Question 18

Exceptions to GINA

Answer 18

GINA does not apply to employers with less than 15 employees, members of the US armed service or Indian health service, coverage or life, disability, or long-term care insurance, anyone who is already manifesting symptoms of disease

Question 19

What is genetic counseling?

Answer 19

The process of helping people understand and adapt to the medical, psychological, and familial implications of genetic contributions to a disease.

Question 20

What does a GC session look like?

Answer 20

Contracting- why does pt want meeting?

Medical intake, family history, risk assessment, pre-test counseling, throughout the session support counseling

Question 21

GC training

Answer 21

2 year masters