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24 Cards in this Set

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Note, this lecture is full of fluff
aka, there's not much to memorize, so i'm trying to limit it to what i think might be important
What is ELSI?
Ethical, Legal, and social implications program
What is ELSI founded on idea of?
new technology of gene identification will engender problems that can be minimized if anticipated and dealth w/ promptly
What are clinical purposes of genetic testing?
predict risk of dz
id carriers
establish prenatal and clinical diagnoses or prognoses
tests involves looking for genetic mutations that have a high penetrance (usually autosomal dominant)
-tests are highly sensitive and specific (usually abou 100%)
Presymptomatic tests
-Alzheimer DZ
-Huntington's
Bad part about presymptomatic testing
may not always have, cures, so may not be better off knowing fate
Involves looking for genetic mutations that confer a higher risk for developing dz
-Variable sensitivity and specificity
-ie: Apo-E (alzheimer)
BRCA1 and 2: breast cancer
Susceptibilty testing
-remeber, variable sensitivity and specificity
What is a problem w/ susceptibility testing?
test interpretation can be complex b/c not always accurate
Identifies individuals who DO NOT themselves have a particular Dz but who are at risk for having child w/ a particular dz
Carrier Identification
-Tay sachs in ashkenazi jewish
-Sickle cell anemia in African American pops
-CF in caucasian
Carrier testing vs carrier screening?
carrier testing- individuals known to be at high risk b/c of family hx
-carrier screening-individual w/ no family hx
testing the fetus prior to birth to help ID genetic mutations that may cause DZ?
prenatal genetic testing
-enable parents to have children who otherwise wouldn't have been willing b/c of fear of birth defects or genetic dz
-let parents have children who would've been worried about fate of fetus
Common prenatal tests?
Down syndrome or tube defects
bad aspect of prenatal tests?
possible termination of fetus based on ambiguous information
Screening newborns shortly after birth to ID genetic conditions
Newborn screening
What is goal of newborn screening?
ID conditions that are txable to begin tx as soon as possible to prevent serious mental or physical handicaps
*usually, tx is available
Big issue in newborn screening?
informed consent issue
-necessity for tx and follow-up to prevent damage
When are applicants for health insurance denied?
if chance of dz exceeds 3 x's the risk for others of their same age and sex
(esp. Huntington's dz)
Is it illegal to hire someone bc they may be EXPECTED to have higher than average health care costs?
no
What is ADA?
Americans w/ disabilities act:
-once offer of employment has been made, then can demand a full medical workup and medical records
-however, supreme court has limited ADA power
What is GINA?
Genetic information nondiscrimination act
What is main purpose of GINA?
protects consumers from discrimination by health insurers and employers on the basis of GENETIC INFORMATION (would help avoid issues of genetic info influencing ability to get insurance)
Who always has a sample of DNA collected?
all persons arrested
How do blood extractions relate to the fourth amendment?
Blood extractions are seraches for the purpose fo the 4th Amendment, and are subject to the normal 4th Amendment requirements
What does 4th amendment and blood samples mean
authorities can't obtain a blood sample for DNA testing absent the subject's consent or a search warrant based upon probable cause, regardless of the subject's status as a former prisoner on supervised release