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26 Cards in this Set
- Front
- Back
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What factors are a part of "patient-centered care"?
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-Genomic information
-Individual developmental history -Environmental exposure -Behavioral health |
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What is gene expression profiling?
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Monitoring the activity of multiple genes simultaneously
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How is a cancer characterized?
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Through gene expression profiling the cancerous cells and normal cells
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What is the proportion of alleles shared between the proband and a monozygotic twin?
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1
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What is the proportion of alleles shared between the proband an a first degree relative?
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1/2
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What is the proportion of alleles shared between a proband and a second degree relative?
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1/4
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What is the proportion of alleles shared between a proband and a third degree relative?
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1/8
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How is average risk determined in a family?
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1. No affected FDR
2. Only one SDR from one or both sides of the pedigree 3. No known family hx 4. Adopted person w/ unk family hx |
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How is moderate risk determined in a family?
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1. One FDR w/ late or unk onset
2. Two SDR from same lineage w/ late onset or unk onset |
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How is high risk determined in a family?
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1. At least 1 FDR w/ early onset
2. At least one SDR w/ early onset (CAD only) 3. One FDR w/ late onset w/ 1 or more SDR w/ early onset 4. 2 paternal or maternal SDRs w/ at least 1 early onset 5. 3 or more paternal or maternal SDRs 6. Moderate risk on both sides of pedigree |
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What is the objective of genetic screening?
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To examine all members of a population, regardless of family hx
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What are three examples of genetic screening?
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1. PKA
2. SCA 3. chromosomal/congential anomalies |
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What is analytic validity?
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The accuracy of the test in detecting the dz genotype in an individual
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What is clinical validity?
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The consistency/accuracy of the test in detecting or predicting the presence of the dz
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What is clinical utility?
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The degree to which the test result will significantly improve pt outcomes
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If the analytic validity is high, what does the clinical validity represent?
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It shows how well the genotype predicts the phenotype (and vice versa)
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What is sensitivity?
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The probability that the test will be positive given that the individual actually has the condition
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What is specificity?
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The probability that it will be negative given that the individual does not have the condition
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What is a false negative?
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One minus the sensitivity
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What is a false positive?
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One minus the specificity
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What is the relationship between a dz phenotype and its genotype?
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The genetic dz association
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What is a susceptible genotype?
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It renders an individual vulnerable to a disease
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What is a protective genotype?
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One that protects an individual from a disease
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Why are certain metabolites chosen for screening?
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They have high analytic validity for genotypes that have high positive predictive values for serious genetic diseases; also, they have high clinical validity and clinical utility.
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What is handy about tandem mass spectroscopy?
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It uses only a single drop of blood to test for multiple biochemical disorders
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What are two commonly performed tests prenatally?
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1. Chromosomal analysis for advanced maternal age
2. Maternal serum alpha-fetoprotein: increased in open neural tube defects and decreased in Down syndrome |
