Genetics Exam 2 Review

Front 1

Red flags for inherited cancer syndromes (6)

Back 1

1) Combinations of certain cancers
2) Autosomal dominant pattern of inheritance
3) Rare/unusual cancers
4) Multiple/bilateral cancers
5) Early onset cancers <50
6) Lack of known contributing factors

Front 2

Knudson two-hit hypothesis for sporadic & hereditary cancer

Back 2

-sporadic: two acquired mutations

-hereditary: one inherited, one acquired mutation

Front 3

Understand risk, benefits & limitations of cancer susceptibility testing

Back 3

-risk: guilt/concern, worry, Life Insurance discrimination

-benefits: identification of genetic predisposition allows for prevention & management of cancers

-limitations: variants of unknown significance, "negative" test does not mean no inherited predisposition to cancer, mutation increases cancer susceptibility --> cannot predict IF or WHEN cancer will develop

Front 4

How do you spot linkage? When is the LOD score significant?

Back 4

- genetic markers that are physically close together are inherited together (linkage)

-LOD > or = 3

Front 5

GWAS & need to minimize variation b/w test & control populations

Back 5

-studying SNPs that are common variants & disease may be linked to rare variants

-Risk factors can't transfer b/w groups

Front 6

Surgeon General's Family Health History (15)

Back 6

1) Cancer
2) Clotting Disorders
3) Diabetes
4) Gastrointestinal Disorder
5) High Cholesterol
6) Heart Disease
7) Hypertension
8) Kidney Disease
9) Lung Disease
10) Osteoporosis
11) Psychological Disorder
12) Septicemia
13) Stroke/brain attack
14) Sudden Infant Death
15) Unknown Disease

Front 7

Next Generation/High-Throughput/Massive Parallel Sequencing advantages (3)

Back 7

1) multiple sequence reactions
2) cheaper
3) faster

Front 8

Important components of Personalized Medicine (3)

Back 8

1) Family History
2) Physical Exam
3) Complete Sequencing of Individual's Genome

Front 9

Important of pharmacogenomic variation in determining appropriate medication dosage

Back 9

-Lists of ways that drugs are metabolized

-specific information about how a person should be dosed

Front 10

potential for discrimination by health and/or life insurance companies & employers based on genetic information

Back 10

-health insurance CANNOT discriminate

-life insurance CAN discriminate

Front 11

definitions of beneficence, nonmaleficence, maleficence

Back 11

-beneficence: duty to do & maximize good

-nonmaleficence: duty to do no/minimize harm in pursuing a greater good

-maleficence: harm outweighs good

Front 12

Genetic testing in minors guideline for & which ethical definition is it associated with: 1) carrier testing, 2) pre-disposition testing, 3) pre-symptomatic testing for late onset diseases

Back 12

1) carrier: wait until child old enough to decide for him/herself (non-maleficence)

2)pre-disposition: consider testing if DEFINED MEDICAL BENEFIT can be seen DURING CHILDHOOD (beneficence)

3) pre-symptomatic for late-onset: wait until child old enough to decide for him/herself (maleficence)