Clinical Genetics 3

Question 1

Sensitivity

Answer 1

The proportion of all people with the condition who are correctly identified as such by the test assay.

Question 2

Specificity

Answer 2

The proportion of all people who do not have the condition and who are correctly identified as such by the test assay.

Question 3

Mutation Scanning

Answer 3

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).

Question 4

Chromosomal Microarray Analysis

Answer 4

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.

Question 5

Target Enrichment Sequencing

Answer 5

The desired sequences are captured from a genomic DNA sample by a DNA hybridization method and submitted for DNA sequencing.

Question 6

Genetic Counseling

Answer 6

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.

Question 7

Analytical Validity

Answer 7

A test’s ability to measure the genotype of interest accurately and reliably.

Question 8

Clinical Validity

Answer 8

A test’s ability to detect or predict the clinical disorder or phenotype associated with the genotype.

Question 9

Clinical Utility

Answer 9

The usefulness of a clinical practice.

Question 10

Ethical Validity

Answer 10

Whether outcomes are sound and just.

Question 11

Negative Predictive Value

Answer 11

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.

Question 12

Positive Preditctive Value

Answer 12

The probability that subjects with a positive screening test truly have the disease.

Question 13

Autonomy

Answer 13

The capacity to make an informed, uncoerced decision.

Question 14

Non-maleficence

Answer 14

A principle of bioethics that asserts an obligation not to inflict harm intentionally.

Question 15

Beneficence

Answer 15

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.

Question 16

Justice

Answer 16

The fair and equitable distribution of burdens and benefits.

Question 17

Ethics

Answer 17

Moral principles that govern a person’s behavior or the conducting of an activity.

Question 18

“right to an open future” principle

Answer 18

Encompasses moral rights to be saved for the child until the child is an adult.

Question 19

Eugenics

Answer 19

A set of beliefs and practices that aim to improve the genetic quality of a human population, historically by excluding people and groups judged to be inferior or promoting those judged to be superior. In recent years, the term has seen a revival in bioethical discussions on the usage of new technologies such as CRISPR and genetic screening, with a heated debate on whether these technologies should be called eugenics or not.

Question 20

Incidental or Secondary Findings

Answer 20

Previously undiagnosed medical or psychiatric conditions that are discovered unintentionally and during evaluation for a medical or psychiatric condition.

Question 21

Incedentalome

Answer 21

An incidental finding is an unanticipated finding which is not related to the original diagnostic inquiry. As with other types of incidental findings, they may represent a diagnostic, ethical, and philosophical dilemma because the significance is unclear. While some coincidental findings may lead to beneficial diagnoses, others may lead to overdiagnosis in the form of unnecessary testing and treatment, i.e. the “cascade effect.”