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Body responds to a drug. Both intended action and side effects. Can be altered by
genetics.
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1 Genetic Testing 2 Positive Carrier Testing
3 Pharmacodynamics 4 Presymptomatic Test
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Terms in this set (57)
Genetic Testing Analysis of DNA, RNA, chromosomes, proteins to identify
heritable variations in genes. Done for clinical and research
purposes.
Genetic Testing Samples Blood, Saliva, Skin, Hair follicles, Tissue biopsy, Buccal swab.
Types of Genetic Tests Diagnostic, Predictive, Carrier, Prenatal, Preimplantation
Genetic Diagnosis, Newborn screening.
Diagnostic Testing Done to confirm or rule out a particular diagnosis in a
symptomatic person. Can clarify a diagnosis. Clinical or
biochemical tests may still be done for some disorders.
Provides information about other family members.
Presymptomatic Test Positive result means the person will get the disease. (Ex.
Huntington disease).
, Predispositional Test Having a gene variant increases the likelihood that a person
will get a genetic disease. (Ex. testing for BRCA1/2 alleles)
Carrier Testing Family member(s) affected by a heritable disease, but person
is not affected. High risk based on ethnicity. Often done for
couples considering having children.
Prenatal Testing Done to determine if the fetus carries a gene variant or has a
chromosomal disorder.
Preimplantation Genetic Diagnosis In conjunction with in vitro fertilization. Cells removed from
blastocyst, tested for gene variants, chromosomal disorders,
sex determination. "Healthy" embryos chosen for implantation.
Controversial and Expensive.
Newborn Screening Identify high risk infants of disorders which have treatment or
interventions. Tests performed depend on each state.
Positive Diagnostic Testing Clinical diagnosis is confirmed. Follow up testing includes
medical management and treatment.
Positive Predictive Testing The likelihood of showing disease symptoms is increased.
Follow up testing includes counseling for life planning;
medical management if available.
Positive Carrier Testing The patient is a carrier. Follow up testing includes testing
offered to partner; prenatal testing offered if indicated.
Positive Prenatal Testing The fetus is diagnosed with a specific condition. Follow up
testing includes pregnancy treatment/management or
termination.
Positive Newborn Screening Disease in a newborn is suggested; carrier status in a newborn
may be identified. Follow up testing includes confirmatory
testing--if positive; medical management and treatment;
carrier testing offered to parents.
Negative Diagnostic Testing Clinical symptoms are unexplained. Follow up includes further
testing and/or follow-up genetic consultation.
Negative Predictive Testing The likelihood of showing symptoms is decreased. Follow up
testing includes counseling for survivor guilt and long-range
life planning; no high-risk surveillance needed.
Negative Carrier Testing There is high likelihood that the individual is not a carrier;
there is low risk of having a child affected with the condition in
question. Follow up testing includes testing offered to other
family members if indicated.
Negative Prenatal Testing If fetus was symptomatic, clinical symptoms remain
unexplained and may need further investigation. If fetus was
not symptomatic, the chance of the condition tested for is
very small. Follow up testing includes further testing and/or
pregnancy management if the baby was symptomatic. If they
were not symptomatic, no follow-up.
Negative Newborn Screening The newborn is not expected to have the condition tested for.
No follow-up.