Heart Rhythm
Volume 2, Issue 12 , Pages 1294-1300 , December 2005

Cost-effectiveness analysis of genetic testing for familial long QT syndrome in symptomatic index cases

  • Kathryn A. Phillips, PhD

      Affiliations

    • School of Pharmacy, Institute for Health Policy Studies, and UCSF Comprehensive Cancer Center, University of California, San Francisco, San Francisco, California
    • Corresponding Author InformationAddress reprint requests and correspondence: Dr. Kathryn A. Phillips, School of Pharmacy, Institute for Health Policy Studies, and UCSF Comprehensive Cancer Center, University of California, San Francisco, 3333 California Street #420, Box 0613, San Francisco, California 94143.
    • ,
  • Michael J. Ackerman, MD, PhD

      Affiliations

    • Departments of Medicine, Pediatrics, and Molecular Pharmacology, Divisions of Cardiovascular Diseases and Pediatric Cardiology, Mayo Clinic College of Medicine, Rochester, Minnesota
    • ,
  • Julie Sakowski, PhD

      Affiliations

    • Sutter Health Institute for Research and Education, San Francisco, California
    • Dr. Sakowski was located at the University of California, San Francisco, when much of this research was completed.
    • ,
  • Charles I. Berul, MD

      Affiliations

    • Department of Cardiology, Children’s Hospital Boston and Department of Pediatrics, Harvard Medical School, Boston, Massachusetts

Received 22 March 2005 ,Accepted 26 August 2005.

References 

  1. Ackerman MJ . The long QT syndrome (Ion channel diseases of the heart) . Mayo Clin Proc . 1998;73:250–269
  2. Zareba W, Moss AJ, Schwartz PJ, Vincent GM, Robinson JL, Priori SG, et al. Influence of the genotype on the clinical course of the long-QT syndrome. International long-QT syndrome registry research group . N Engl J Med . 1998;339:960–965
  3. Priori SG, Napolitano C, Schwartz PJ, Grillo M, Bloise R, Ronchetti E, et al. Association of long QT syndrome loci and cardiac events among patients treated with beta-blockers . JAMA . 2004;292:1341–1344
  4. Priori SG, Schwartz PJ, Napolitano C, Bloise R, Ronchetti E, Grillo M, et al. Risk stratification in the long-QT syndrome . N Engl J Med . 2003;348:1866–1874
  5. Genaissance Pharmaceuticals IPR . Genaissance pharmaceuticals launches its proprietary familion(tm) test for genetic mutations associated with sudden cardiac death . PR Newswire . 2004; May 20
  6. Gold M , Siegel J , Russell L , Weinstein M . Cost-effectiveness in health and medicine . New York: Oxford University Press; 1996;
  7. Phillips KA , Van Bebber SL , Veenstra D , Sakowski J . The economics of pharmacogenomics . Curr Pharmacogenomi . 2003;1:277–284
  8. Phillips KA , Veenstra D , Van Bebber SL , Sakowski J . An introduction to cost-effectiveness and cost-benefit analysis of pharmacogenomics . Pharmacogenomics . 2003;4:231–239
  9. Phillips KA , Veenstra DL , Oren E , Lee JK , Sadee W . Potential role of pharmacogenomics in reducing adverse drug reactions (a systematic review) . JAMA . 2001;286:2270–2279
  10. Phillips KA , Fernyak S . The cost-effectiveness of expanded HIV counselling and testing in primary care settings (a first look) . AIDS . 2000;14:2159–2169
  11. Phillips KA , Lowe RA , Kahn JG , Lurie P , Avins A , Ciccarone D . The cost-effectiveness of HIV testing of physicians and dentists . JAMA . 1994;271:851–858
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  13. Maron BJ, Moller JH, Seidman CE, Vincent GM, Dietz HC, Moss AJ, et al. Impact of laboratory molecular diagnosis on contemporary diagnostic criteria for genetically transmitted cardiovascular diseases: hypertrophic cardiomyopathy, long-QT syndrome, and Marfan syndrome. A statement for healthcare professionals from the councils on clinical cardiology cardiovascular disease in the young, and basic science, American Heart Association . Circulation . 1998;98:1460–1471
  14. Schwartz PJ , Moss AJ , Vincent GM , Crampton RS . Diagnostic criteria for the long QT syndrome. An update . Circulation . 1993;88:782–784
  15. Splawski I, Shen J, Timothy KW, Lehmann MH, Priori S, Robinson JL, et al. Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2 . Circulation . 2000;102:1178–1185
  16. Tester DJ , Will ML , Haglund CM , Ackerman MJ . Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing . Heart Rhythm . 2005;2:507–517
  17. Moss AJ, Zareba W, Hall WJ, Schwartz PJ, Crampton RS, Benhorin J, et al. Effectiveness and limitations of beta-blocker therapy in congenital long-QT syndrome . Circulation . 2000;101:616–623
  18. Chatrath R , Bell CM , Ackerman MJ . Beta-blocker therapy failures in probands with genotyped long-QT syndrome . Pediatr Cardiol . 2004;25:459–465
  19. Villain E, Denjoy I, Lupoglazoff JM, Guicheney P, Hainque B, Lucet V, et al. Low incidence of cardiac events with beta-blocking therapy in children with long QT syndrome . Eur Heart J . 2004;25:1405–1411 Aug
  20. Ackerman MJ . Genetic testing for risk stratification in hypertrophic cardiomyopathy and long QT syndrome (fact or fiction) . Curr Opin Cardiol . 2005;20:175–181 May
  21. Seslar S , Berul CI , Zimetbaum P , Josephson ME . Treatment of the long QT syndrome . UpToDate Pediatrics . 2004;
  22. Owens DK , et al.   Effect of risk stratification on cost-effectiveness of the implantable cardioverter defibrillator . American Heart Journal . 2002;144:440–448
  23. Zupancic JA , Triedman JK , Alexander M , Walsh EP , Richardson DK , Berul CI . Cost-effectiveness and implications of newborn screening for prolongation of QT interval for the prevention of sudden infant death syndrome . J Pediatr . 2000;136:481–489
  24. Tengs TO , Berry DA . The cost effectiveness of testing for the brca1 and brca2 breast-ovarian susceptibility genes . Dis Manage Clin Outcomes . 2000;1:15–24
  25. Salzmann P , Kerlikowske K , Phillips KA . Cost-effectiveness of extending mammography screening programs to women 40-49 years old . Ann Intern Med . 1997;127:955–965
  26. Kerlikowske K , Salzmann P , Phillips KA , Cauley J , Cummings S . Cost-effectiveness and impact on life expectancy of continuing screening mammography in women aged 70 to 79 years . JAMA . 1999;282:2156–2163
  27. Phillips KA , Veenstra DL , Ramsey SD , Van Bebber SL , Sakowski J . Genetic testing and pharmacogenomics (issues for determining the impact to health care delivery and costs) . Am J Manag Care . 2004;10:425–432
  28. Veenstra DL , Higashi MK , Phillips KA . Assessing the cost-effectiveness of pharmacogenomics . Pharmaceutical-Sciences . 2000;2: September 14, (3, article 29)Available at http://www.aapspharmsci.org/view.asp?art=ps020329
  29. Vincent GM . Role of DNA testing for diagnosis, management, and genetic screening in long QT syndrome, hypertrophic cardiomyopathy, and Marfan syndrome . Heart . 2001;86:12–14
  30. Phillips KA , Van Bebber SL . Regulatory perspectives on pharmacogenomics (a review of the literature on key issues faced by the United States Food and Drug Administration) . Manag Care Res Rev . 2005; (In press)
  31. Phillips KA , Van Bebber SL . Measuring the value of pharmacogenomics . Nat Rev Drug Discov . 2005;4:500–509

 Partial funding was provided by Genaissance Pharmaceuticals, Inc., through independent consulting contracts to Dr. Phillips and Dr. Ackerman. All results and conclusions are those of the authors and should not be construed to represent those of Genaissance Pharmaceuticals.

PII: S1547-5271(05)02018-7

doi: 10.1016/j.hrthm.2005.08.026

Heart Rhythm
Volume 2, Issue 12 , Pages 1294-1300 , December 2005

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