Contemp quiz 1 Flashcards
(44 cards)
being liable, answerable to oneself and others for one’s own choices. decisions and actions are measured against a standard such as the Code of Ethics
accountability
an obligation. state or fact of being responsible or accountable for something within one’s power, control or mngt. An obligation to perform required professional activities at a level commensurate w/ one’s education and in compliance w applicable laws and standards
responsibility
beneficence
doing good, going out of one’s way to do the right thing.
independence or freedom, as of the will or one’s actions. Rational self legislation and self determination. Agreement to respect another’s right to self-determine a course of action; support of independent decision making
autonomy
non-maleficence
not causing harm Avoidance of harm or hurt; core of medical oath and nursing ethics. Ethical principal of doing no harm and balancing unavoidable harm with benefits of good achieved
truthfulness. habitual observance of truth in speech or statement
veracity
moral rightness. Equal and fair distribution of resources, based on analysis of benefits and burdens of decision quality of being just. Fairness
Justice
When is genetic testing appropriate?
SCREE-E
SC: some concern about a condition that “runs in family”
R: reproductive related risk
E: early disease onset
E: ethnicity based risk
E: epigenetic factors (lifestle/behavior, environmental exposures)
Purpose of genetic testing
Purpose is:
- Interpretation: to assess the chance of disease occurrence or recurrence
- education: inheritance, testing, mngtment, prevention, resources, and research
- counseling: promote informed choices and adaptation to the risk or condition
genetics
the science of genes and heridity
genomics
science of the entire genome, “the totality of the chromosomes (and the DNA therein) unique to a particular organism
Genome=the complete set of genes or genetic material present in a cell or organism.
genes
functional and physical unity of heredity passed from parent to offspring, an ordered linear segment of nucleotides within a strand of DNA arranged along a chromosome, which codes for a specific protein that results in a particular characteristic or function
Penetrance
- how often (frequency), within a population, a gene is expressed when it is present (as a %)
- The proportion of individuals w a mutation who exhibit clinical Sx of the disorder
Complete penetrance
all who have the mutation have the clinical Sx
Incomplete penetrance
not everyone who has teh mutation shows clinical Sx
a sudden departure from the parent type in one or more heritable characteristics, caused by a change in gene or a chromosome. Causes a permanent change in the DNA sequence. This is called a _______
mutation
Types of mutations (4)
- inherited
- de novo (only occurs in an egg or sperm cell or acquired just after fertilizaion)
- acquired (environmental factors, can alter DNA when the cell replicates)
- mosaicism (some cells mutate while others do not)
DNA
the basic genetic chemical structure, containing gene-coding regions and noncoding regions, that can be compacted into a chromosome form
-line up of base pairs: thymine-adenine; and cytosine-guanine
Carrier
has inherited a recessive allele for a genetic trait or mutation but doesn’t display that trait or show Sx of the disease
autosomal
a chromosome that is NOT a sex chromosome
dominant
masks the presence of recessive genes
recessive
can be carried in a person’s genes without appearing in that person
pharmacogenetics
- study of inherited variations in drug metabolism and response
- the use of single-gene info in the study of drug development and drug therapy
- a science that examines the inherited variations in genes that dictate drug response and explores the ways these variations can be used to predict where a pt will have a good response to a drug, a bad response, or no response at all
variants
version of something that differs from the “standard”.
-alleles are variants of a gene (explains diff hair colors)
