Point-of-care genetic testing

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.{{cite journal|last1=Dobson|first1=Mark G|last2=Galvin|first2=Paul|last3=Barton|first3=David E|title=Emerging technologies for point-of-care genetic testing|journal=Expert Review of Molecular Diagnostics|date=9 January 2014|volume=7|issue=4|pages=359–370|doi=10.1586/14737159.7.4.359|pmid=17620045|s2cid=30644983 }}

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.{{cite journal|last1=Roberts|first1=Jason D|last2=Wells|first2=George A|last3=Le May|first3=Michel R|last4=Labinaz|first4=Marino|last5=Glover|first5=Chris|last6=Froeschl|first6=Michael|last7=Dick|first7=Alexander|last8=Marquis|first8=Jean-Francois|last9=O'Brien|first9=Edward|last10=Goncalves|first10=Sandro|last11=Druce|first11=Irena|last12=Stewart|first12=Alexandre|last13=Gollob|first13=Michael H|last14=So|first14=Derek YF|title=Point-of-care genetic testing for personalisation of antiplatelet treatment (RAPID GENE): a prospective, randomised, proof-of-concept trial|journal=The Lancet|date=May 2012|volume=379|issue=9827|pages=1705–1711|doi=10.1016/S0140-6736(12)60161-5|url=http://www.thelancet.com/journals/lancet/article/PIIS0140-6736%2812%2960161-5/abstract|accessdate=6 July 2016|pmid=22464343|s2cid=25439653 |url-access=subscription}} In the RAPID GENE study,{{cite web|title=ReAssessment of Anti-Platelet Therapy Using an InDividualized Strategy Based on GENetic Evaluation (RAPID GENE)|url=https://clinicaltrials.gov/ct2/show/NCT01184300|website=Clinical Trials|publisher=U.S. National Institutes of Health|accessdate=6 July 2016}} 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.{{cite news|last1=Taylor|first1=Paul|title=New bedside genetic tests pick the right drug, right away|url=https://www.theglobeandmail.com/life/health/new-health/conditions/heart-and-stroke/treatment/new-bedside-genetic-tests-pick-the-right-drug-right-away/article2393347/|accessdate=6 July 2016|work=The Globe and Mail|date=September 6, 2012}} This study is the first in medicine to incorporate point-of-care testing with genetics into routine clinical care and decision making.