Genomics Flashcards
define genomics
the study of genes, genetic variants, and their interactions with a person’s environment
what is the role of genomics in healthcare?
- help identify genetic mutations at an early stage
- help better understand effects of mutations
define genetics
study of how genes and how traits are passed down from one generation to the next
define genetic variant
different forms of the same gene
define genomic literacy
the capacity to obtain, process, understand, and use genomic information for health-related decision making
define precision health care
a personalized approach that considers an individual’s unique characteristics like genetics, lifestyle, and environment when making health decisions
what is the Genomics Research and Development Initiative (GRDI)?
research initiative from the government to support genomics research in areas of healthcare, food safety, management of natural resources, agriculture and environment protection
what is whole genome testing used for?
- prevent, predict or treat cancer
- determine paternity or ancestry
- determine risk for disease
- determine responses to treatment
what is molecular genetic testing used for?
to look for changes or mutations in genes
what are single-gene tests?
molecular genetic testing looking at one gene
what are panel tests?
molecular genetic testing that looks at several genes at the same time
what is biochemical genetic testing used for?
to look at the structure and amount of proteins and enzymes in cells
what is direct-to-consume (DTC) testing used for?
genetic testing done at home
define pharmacogenomics?
the study of how genes affect a person’s response to drugs by combining pharmacology and genomics
which enzyme group is responsible for metabolizing drugs?
CYP450
how do individual differences in the expression of CYP2D6 affect pain control?
individuals with high expression have adequate pain control, those who have inactive or deficint CYP2D6 will have poor pain control
what is the role of thiopurine methyltransferase?
plays a role in chemotherapy of child leukemia by breaking down thiopurines
what effect does low TPMT levels have?
elevates thiopurines to toxic levels because the human cell is unable to break down the drug
how is genetic testing used with infants and kids?
- manage hereditary diseases
- slow down development of cancer or metabolic syndromes
how is genetic testing used with adults?
- screening for breast cancer and reproductive cancer
- colorectal cancer screenings
- prostate screening
- dementia screening
how is genetic testing used postmortem?
to identify reason of death and any genetic diseases
how is genetic testing used prenatally?
- identify chance of trisomy 21 or 13
- identify potential sex-related conditions
what is the nurses role in genomics?
- education
- advocate and policy development
- early detection and tx’s
- collaboration with other physicians
what gene variant increases a womans risk of developing breast and ovarian cancer?
BRCA1 gene variant
what are ethical issues for clients and family regarding genomics?
- autonomy
- informed decision making
- privacy
- psychological impact
what are ethical issues for healthcare professionals regarding genomics?
- equity
- consent
- cultural sensitivity
