Fully Integrated Genetic Analysis System

  • Bin Zhuang
Part of the Springer Theses book series (Springer Theses)


An integrated interface was designed to connect the platform in Chap.  2 and the module in Chap.  3 together forming a fully integrated system for automated genetic analysis. The chips and the instrument were also upgraded correspondingly. The upgraded integrated chip is a compound material one that uses plastic chip for sample preparation and glass chip for capillary electrophoresis detection. The cheap plastic chip is disposable while the glass chip is reusable after cleaned up after each run. A special shaped sample electrode for electrophoresis was designed as the core component of the integrated interface. The specific designed sample electrode was verified to be able to mix the PCR products with the premixed, and transport the mixture from PMMA chip onto glass chip. With this interface, a new fully integrated “sample-in-answer-out” genetic analysis system was constructed. The integrated system was verified on reliability and repeatability. And the limit of detection was also determined. The system was applied for rapid pharmacogenetic typing of multiple warfarin-related single-nucleotide polymorphisms and the test results met the design requirements.


  1. 1.
    Rubin EH, Allen JD, Nowak JA, Bates SE. Developing precision medicine in a global world. Clin Cancer Res. 2014;20(6):1419–27.CrossRefGoogle Scholar
  2. 2.
    Mooney SD. Progress towards the integration of pharmacogenomics in practice. Hum Genet. 2015;134(5):459–65.MathSciNetCrossRefGoogle Scholar
  3. 3.
    Ashley EA. The precision medicine initiative a new national effort. JAMA. 2015;313(21):2119–20.CrossRefGoogle Scholar
  4. 4.
    Roberts JD, Wells GA, Le May MR, Labinaz M, Glover C, Froeschl M, et al. Point-of-care genetic testing for personalisation of antiplatelet treatment (RAPID GENE): a prospective, randomised, proof-of-concept trial. Lancet. 2012;379(9827):1705–11.CrossRefGoogle Scholar
  5. 5.
    Katsnelson A. Momentum grows to make ‘personalized’ medicine more ‘precise’. Nat Med. 2013;19(3):249.CrossRefGoogle Scholar
  6. 6.
    Flockhart DA, O’Kane D, Williams MS, Watson MS, Flockhart DA, Gage B, et al. Pharmacogenetic testing of CYP2C9 and VKORC1 alleles for warfarin. Genet Med. 2008;10(2):139–50.CrossRefGoogle Scholar
  7. 7.
    Johnson JA, Cavallari LH. Warfarin pharmacogenetics. Trends Cardiovasc Med. 2015;25(1):33–41.CrossRefGoogle Scholar
  8. 8.
    Daniel SB, Lovegrove MC, Shehab N, Richards CL. Emergency hospitalizations for adverse drug events in older Americans. New Engl J Med. 2011;365(21):2002–12.CrossRefGoogle Scholar
  9. 9.
    Lee MTM, Klein TE. Pharmacogenetics of warfarin: challenges and opportunities. J Hum Genet. 2013;58(6):334–8.CrossRefGoogle Scholar
  10. 10.
    Johnson JA, Gong L, Whirl-Carrillo M, Gage BF, Scott SA, Stein CM, et al. Clinical pharmacogenetics implementation consortium guidelines for CYP2C9 and VKORC1 genotypes and warfarin dosing. Clin Pharmacol Ther. 2011;90(4):625–9.CrossRefGoogle Scholar
  11. 11.
    Eckman MH, Rosand J, Greenberg SM, Gage BF. Cost-effectiveness of using pharmacogenetic information in warfarin dosing for patients with nonvalvular atrial fibrillation. Ann Intern Med. 2009;150(2):73–U31.CrossRefGoogle Scholar
  12. 12.
    Epstein RS, Moyer TP, Aubert RE, O’Kane DJ, Xia F, Verbrugge RR, et al. Warfarin genotyping reduces hospitalization rates results from the MM-WES (Medco-Mayo Warfarin Effectiveness Study). J Am Coll Cardiol. 2010;55(25):2804–12.CrossRefGoogle Scholar
  13. 13.
    Poe BL, Haverstick DM, Landers JP. Warfarin genotyping in a single pcr reaction for microchip electrophoresis. Clin Chem. 2012;58(4):725–31.CrossRefGoogle Scholar

Copyright information

© Springer Nature Singapore Pte Ltd. 2018

Authors and Affiliations

  • Bin Zhuang
    • 1
  1. 1.National Engineering Research Center for Beijing Biochip TechnologyCapitalbio CorporationBeijingChina

Personalised recommendations