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Coeliac genetic testing: prone to misuse

Neil J Porter, Huy A Tran and Glenn E M Reeves
Med J Aust 2010; 192 (8): . || doi: 10.5694/j.1326-5377.2010.tb03594.x
Published online: 19 April 2010

To the Editor: Optimism about our growing ability to recognise coeliac disease (CD) is tempered by a worrying trend towards misuse of genetic testing for CD risk, as illustrated by this salutary case.


  • 1 John Hunter Hospital, Newcastle, NSW.
  • 2 Hunter Area Pathology Service, John Hunter Hospital, Newcastle, NSW.



Competing interests:

Hunter Area Pathology Service performs diagnostic tests for coeliac disease, including serology and genetic testing.

  • 1. Caltsounis C, Mallon D. Prevalence of coeliac disease in an Australian population — a Busselton study. Proceedings of the 14th Australasian Society of Clinical Immunology and Allergy Annual Scientific Meeting; 2003 Sep 10-12; Melbourne, Australia. Abstract 251.
  • 2. Reeves GE, Squance ML, Duggan AE, et al. Diagnostic accuracy of coeliac serological tests: a prospective study. Eur J Gastroenterol Hepatol 2006; 18: 493-501.
  • 3. Anderson RP. Coeliac disease: current approach and future prospects. Intern Med J 2008; 38: 790-799.
  • 4. Karell K, Louka AS, Moodie SJ, et al. HLA types in celiac disease patients not carrying the DQA1*05-DQB1*02 (DQ2) heterodimer: results from the European Genetics Cluster on Celiac Disease. Hum Immunol 2003; 64: 469-477.

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