Point-of-care Genetic Testing
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Point-of-care genetic testing identifies variations in the genetic sequence at the bedside – enabling clinicians to react and alter therapy based upon the results. Traditional
genetic testing Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or ...
involves the analysis of DNA in order to detect
genotype The genotype of an organism is its complete set of genetic material. Genotype can also be used to refer to the alleles or variants an individual carries in a particular gene or genetic location. The number of alleles an individual can have in a ...
s related to a heritable disease or
phenotype In genetics, the phenotype () is the set of observable characteristics or traits of an organism. The term covers the organism's morphology or physical form and structure, its developmental processes, its biochemical and physiological proper ...
of interest for clinical purposes. However, current testing methods require days to weeks before results are available limiting the clinical applicability of
genetic testing Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or ...
in a number of circumstances. Recently, the first
point-of-care Clinical point of care (POC) is the point in time when clinicians deliver healthcare products and services to patients at the time of care. Clinical documentation Clinical documentation is a record of the critical thinking and judgment of a health ...
genetic test in medicine was demonstrated to be effective in identifying
CYP2C19 Cytochrome P450 2C19 (abbreviated CYP2C19) is an enzyme protein. It is a member of the CYP2C subfamily of the cytochrome P450 mixed-function oxidase system. This subfamily includes enzymes that catalyze metabolism of xenobiotics, including some pr ...
*2 carriers allowing tailoring of anti-platelet regimens to reduce high on treatment platelet reactivity. In the RAPID GENE study, Drs. Jason Roberts and Derek So from the
University of Ottawa Heart Institute The University of Ottawa Heart Institute (UOHI) ''(French: Institut de cardiologie de l'Université d'Ottawa (ICUO))'' is Canada's largest cardiovascular health centre. It is located in Ottawa, Ontario, Canada. It began as a department in The Ottaw ...
validated a
pharmacogenomics Pharmacogenomics is the study of the role of the genome in drug response. Its name ('' pharmaco-'' + ''genomics'') reflects its combining of pharmacology and genomics. Pharmacogenomics analyzes how the genetic makeup of an individual affects the ...
approach in patients undergoing
percutaneous coronary intervention Percutaneous coronary intervention (PCI) is a non-surgical procedure used to treat narrowing of the coronary arteries of the heart found in coronary artery disease. The process involves combining coronary angioplasty with stenting, which is the ...
for
acute coronary syndrome Acute coronary syndrome (ACS) is a syndrome (a set of signs and symptoms) due to decreased blood flow in the coronary arteries such that part of the heart muscle is unable to function properly or dies. The most common symptom is centrally loca ...
or stable
coronary artery disease Coronary artery disease (CAD), also called coronary heart disease (CHD), ischemic heart disease (IHD), myocardial ischemia, or simply heart disease, involves the reduction of blood flow to the heart muscle due to build-up of atherosclerotic pla ...
. This study is the first in medicine to incorporate
point-of-care testing Point-of-care testing (POCT or bedside testing) is defined as medical diagnostic testing at or near the point of care—that is, at the time and place of patient care. This contrasts with the historical pattern in which testing was wholly or most ...
with
genetics Genetics is the study of genes, genetic variation, and heredity in organisms.Hartl D, Jones E (2005) It is an important branch in biology because heredity is vital to organisms' evolution. Gregor Mendel, a Moravian Augustinian friar wor ...
into routine clinical care and decision making.


References

{{DEFAULTSORT:Point-of-care genetic test Medical tests Medical genetics