Vocabulary Flashcards
PCR (Polymerase Chain Reaction)
One of the most widely used techniques in molecular diagnostics, PCR amplifies small quantities of DNA to detectable levels. This allows for the detection of specific genes or mutations that may indicate the presence of a disease or condition.
Next-Generation Sequencing (NGS)
NGS technologies allow for the sequencing of entire genomes or targeted regions at a high throughput. This enables comprehensive genetic analysis, identifying a range of mutations, polymorphisms, or pathogens in a single test.
Hybridization Assays and Microarrays
Techniques used to detect specific sequences of nucleic acids by pairing complementary strands of DNA or RNA through base-pairing rules.
Point-of-care (POC) Testing
Diagnostic tests performed at or near the site of patient care, providing rapid results without the need for centralized laboratory facilities. POCT improves clinical decision-making and patient outcomes.
Bioinformatics
An interdisciplinary field combining biology, computer science, and mathematics to analyze and interpret biological data, particularly large-scale datasets such as genomic sequences, proteomic profiles, and molecular assays.
DNA and RNA (as Biomarkers)
DNA is the genetic blueprint of an organism, while RNA serves as the intermediary that translates DNA instructions into proteins. Mutations, deletions, or insertions in DNA can lead to genetic disorders, cancers, or infections, while changes in RNA can be markers of gene expression or the presence of viral infections.
Genome
he complete set of an organism’s genetic material, including all of its DNA (or RNA for some viruses). A genome contains all the information needed to build and maintain the organism, encoded in sequences of nucleotide bases (adenine, thymine, cytosine, and guanine in DNA).
Proteome
The entire set of proteins that can be expressed by the genome of an organism, tissue, or cell at a given time under specific conditions. The proteome varies depending on cell type, stage of development, and environmental factors.
genetic sequence
The precise order of nucleotides (A, T, C, and G) in a strand of DNA or RNA. Genetic sequences provide the instructions for the synthesis of proteins and functional RNA molecules.
Genetic Testing
involves analyzing DNA to detect mutations or variants associated with inherited diseases (e.g., cystic fibrosis, sickle cell anemia). Genetic testing is also used to identify susceptibilities to certain conditions, such as cardiovascular diseases or cancers.
Viral Load Testing
In the context of infectious diseases, viral load tests measure the amount of virus (e.g., HIV, Hepatitis C) present in the bloodstream, helping to gauge disease progression and treatment efficacy.
Infectious Disease Diagnostics
These tests use PCR or other techniques to identify the presence of pathogens, such as bacteria, viruses, or fungi, by detecting their genetic material. Examples include tests for COVID-19, tuberculosis, and sexually transmitted infections (STIs).
Pharmacogenomics
molecular diagnostic testing that evaluates how an individual’s genetic makeup affects their response to drugs. This is particularly important in cancer treatments where certain mutations make tumors resistant to specific drugs, guiding personalized therapy.
CRISPR-based Diagnostics
Diagnostic platforms leveraging CRISPR technology to detect specific genetic sequences with high precision. These diagnostics often use Cas enzymes, which are engineered to produce detectable signals upon recognizing target DNA or RNA.
Liquid Biopsy
Liquid biopsy, a non-invasive technique that detects circulating tumor DNA (ctDNA) in blood, offers a promising alternative to traditional tissue biopsies. It allows for real-time monitoring of cancer and the detection of minimal residual disease.
Biosensors
The development of biosensors for molecular diagnostics promises real-time, portable testing, potentially revolutionizing disease detection at the point of care, including home-based testing.
HEDIS and STAR metrics
Standardized performance measurement systems used in healthcare to assess the quality of care provided by health plans.
HEDIS (Healthcare Effectiveness Data and Information Set): Evaluates clinical performance, patient satisfaction, and preventive care. STAR Ratings: CMS's rating system for Medicare Advantage plans based on HEDIS metrics and other factors.
HBD (HbA1c)
Glycated hemoglobin, a measure of average blood glucose levels over the past 2-3 months, used for diagnosing and monitoring diabetes.
KED (uACR / eGFR)
uACR (Urine Albumin-to-Creatinine Ratio): Detects kidney damage by measuring albumin levels in urine.
eGFR (Estimated Glomerular Filtration Rate): Assesses kidney function by estimating the filtration rate of kidneys.
COL (Colorectal Cancer Screening)
Preventive screening methods for colorectal cancer, including colonoscopy, stool tests (FIT, gFOBT), and CT colonography.
toxicology
The study of the effects of chemicals, drugs, and toxins on biological systems, focusing on poisoning, overdose, and drug interactions.
comprehensive drug testing
Testing that identifies a wide range of drugs and their metabolites in biological samples, such as urine, blood, or hair.
treatment adherence
The extent to which patients follow prescribed treatment regimens, including medications, therapies, and lifestyle changes.
Molecular Diagnostics
A type of medical diagnostic technique that uses molecular biology, such as DNA, RNA, and proteins, to analyze and identify disease-causing agents, genetic disorders, and abnormalities. It includes technologies like PCR, NGS, and others to detect specific genetic markers.
