Clinical Genetics 3 Flashcards
Sensitivity
The proportion of all people with the condition who are correctly identified as such by the test assay.
Specificity
The proportion of all people who do not have the condition and who are correctly identified as such by the test assay.
Mutation Scanning
Testing for any non-defined change in the base sequence of a genome or a genome component (such as an exon, gene, or exome) in the hope of identifying abnormal mutation that correlate with disease (As opposed to testing for specific mutations).
Chromosomal Microarray Analysis
The clinical application of microarray-based DNA hybridization assays to scan the DNA of each chromosome for changes in copy number of DNA segments from tens of kilobases to tens of megabases.
Target Enrichment Sequencing
The desired sequences are captured from a genomic DNA sample by a DNA hybridization method and submitted for DNA sequencing.
Genetic Counseling
The process by which parents are informed of the consequences and nature of the disorder, the probability of developing and transmitting it, and the options open to them.
Analytical Validity
A test’s ability to measure the genotype of interest accurately and reliably.
Clinical Validity
A test’s ability to detect or predict the clinical disorder or phenotype associated with the genotype.
Clinical Utility
The usefulness of a clinical practice.
Ethical Validity
Whether outcomes are sound and just.
Negative Predictive Value
The number of true negatives (people who test negative who don’t have a condition) divided by the total number of people who test negative.
Positive Preditctive Value
The probability that subjects with a positive screening test truly have the disease.
Autonomy
The capacity to make an informed, uncoerced decision.
Non-maleficence
A principle of bioethics that asserts an obligation not to inflict harm intentionally.
Beneficence
A concept in research ethics which states that researchers should have the welfare of the research participant as a goal of any clinical trial or other research study.