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.[1]

Traditional genetic testing involves the analysis of DNA in order to detect genotypes related to a heritable disease or phenotype 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 genetic test in medicine was demonstrated to be effective in identifying CYP2C19*2 carriers allowing tailoring of anti-platelet regimens to reduce high on treatment platelet reactivity.[2] In the RAPID GENE study,[3] Drs. Jason Roberts and Derek So from the University of Ottawa Heart Institute validated a pharmacogenomics approach in patients undergoing percutaneous coronary intervention for acute coronary syndrome or stable coronary artery disease.[4] This study is the first in medicine to incorporate point-of-care testing with genetics into routine clinical care and decision making.[2]


  1. ^ Dobson, Mark G; Galvin, Paul; Barton, David E (9 January 2014). "Emerging technologies for point-of-care genetic testing". Expert Review of Molecular Diagnostics. 7 (4): 359–370. doi:10.1586/14737159.7.4.359. PMID 17620045. 
  2. ^ a b Roberts, Jason D; Wells, George A; Le May, Michel R; Labinaz, Marino; Glover, Chris; Froeschl, Michael; Dick, Alexander; Marquis, Jean-Francois; O'Brien, Edward; Goncalves, Sandro; Druce, Irena; Stewart, Alexandre; Gollob, Michael H; So, Derek YF (May 2012). "Point-of-care genetic testing for personalisation of antiplatelet treatment (RAPID GENE): a prospective, randomised, proof-of-concept trial". The Lancet. 379 (9827): 1705–1711. doi:10.1016/S0140-6736(12)60161-5. PMID 22464343. Retrieved 6 July 2016. 
  3. ^ "ReAssessment of Anti-Platelet Therapy Using an InDividualized Strategy Based on GENetic Evaluation (RAPID GENE)". Clinical Trials. U.S. National Institutes of Health. Retrieved 6 July 2016. 
  4. ^ Taylor, Paul (September 6, 2012). "New bedside genetic tests pick the right drug, right away". The Globe and Mail. Retrieved 6 July 2016.