Lecture 23 Flashcards
What is genetic/genomic testing when it comes to it’s application to DNA?
the analysis of DNA to ID changes in gene sequence (deletions, additions or misspellings) or expression levels
What is genetic/genomic testing when it comes to it’s application to RNA? (3 things)
the analysis of RNA to determine gene expression
or biochemical tests for the presence of gene products (proteins)
or microscopic analysis of chromosomes to ID structural variation
describe what the future of sequencing technology is looking like and how that affects the future study of genetics
the cost of sequencing is rapidly decreasing
this means that the amount and types of available genetic studies looks to increase drastically in the future
what is likely to become a routine part of medical decision making in the near future? (list and define this term)
pharmacogenetic testing
basically studies a pt’s genes in order to determine the perfect dose of medication based on their metabolic activity/sensitivity (that is defined by their genetic make up)
What is personal genomics?
the science of sequencing and the art of analysis of the genome of a person for health-related decision making
what is the relevance of the erosion of conserved binding promoter sites?
if enough of a pt’s genes are affected by the variants (erosions in this case) in an amount that exceeds the threshold, then those variants could be responsible for issues that correlate with people’s medical history (it could be the cause of their ailments)
compare predictive and diagnostic genetic testing
Predictive: the use of a pt’s DNA sequences in deciding what medical treatments are most appropriate for that individual
Precision: using informatics (personal info) to prevent or treat disease
What is whole-genome/whole exome sequencing of germline DNA?
it is under “predictive testing”
examines the entire genome/exome to discover genetic alterations that may be the cause of a disease
What factors are important in developing and validating genetic tests
It’s clinical validity is most important
this includes how consistently and accurately the test detects/predicts the outcome(s) of interest
what steps must genetic tests undergo before they can be utilized regularly in the healthcare field?
a series of tests must be performed and then the FDA must review AND approve the test for use in healthcare systems
describe the pharmaco genetics of warfarin dose decision making
warfarin has 2 enantiomers (mirror image stereoisomers) that have different physiological potency and are metabolized differently
everyone metabolizes these enantiomers differently and at different speeds
this looks at the genetics of a pt to determine the proper dose of warfarin for them specifically
What is BRCA testing? should every get this test?
a test that checks for mutations in BRCA 1 and 2, which are tumor suppressor genes that are know to cause most cases of breast cancer IF they are mutated to the point where they can no longer suppress cancer tumors
no, bc BRCA gene mutations are relatively rare in the population, people should only get this test if their personal or family history suggests they may have a higher than normal risk for breast cancer
What is Colorgaurd testing?
What specific defect does it look for?
an “at home, mail aways stool” DNA test that checks for colon cancer.
hypermethylation of CpG islands in gene-promoter regions
When it comes to genetic testing for myeloid leukemia, what 3 descriptive factors for mutations in clonal hematopoiesis are associate with the risk and timing of progression to acute myeloid leukemia?
the number, identity, and burden of mutations
When it comes to genetic testing for myeloid leukemia, what 3 descriptive factors for mutations in clonal hematopoiesis are associate with the risk and timing of progression to acute myeloid leukemia?
the number, identity, and burden of mutations
