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 involves the analysis of
DNA in order to detect
genotypes 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 pr ...
of interest for clinical purposes. However, current testing methods require days to weeks before results are available limiting the clinical applicability of
genetic testing 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 heal ...
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 p ...
*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 Ott ...
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 for
acute coronary syndrome or stable
coronary artery disease.
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