New approach to coeliac genetic testing improves identification of those at risk
Published 29th August, 2013
University of Queensland researchers have contributed to the development of a new approach to detecting coeliac disease, revealing the immune disorder is far more common than previously recognised.
In a study of more than 2500 Victorians, researchers combined measuring the immune response to gluten with an assessment of specific genetic risk markers, and found more than 50 per cent of Australians had genetic risk factors for developing coeliac disease.
“Coeliac disease is a common condition which is often hard to diagnose or exclude using standard tests. This is a great example of a condition where genetic tests offer substantial advantages for screening over what is currently available,” said Professor Matt Brown, Director of The University of Queensland Diamantina Institute.
Previously, it has been understood that coeliac disease affected up to one in 100 people. However new tests indicate that far more people are susceptible, with up to one in 60 Australian women and one in 80 Australian men affected.
The disease is caused by an inappropriate immune response to dietary gluten, found in wheat, rye, barley and oats.
Associate Professor Duncan said the genetic testing offered new hope for patients at risk of the disease.
“This study represents a major improvement in our ability to work out which patients might benefit from more formal investigation.”
“In this study the inclusion of a simple genetic test helped identify a substantial number of people whose antibody tests were falsely positive and who did not actually require a bowel biopsy to test for the possibility of coeliac disease.”
It is not yet known why the disease develops in only some people with genetic risk factors.
“Accurate and timely diagnosis is important for the health of patients with coeliac disease. Making a diagnosis based on a blood test alone or commencing a gluten-free diet without a confirmatory bowel biopsy is inappropriate and can impose an unnecessary and lifelong treatment.
“This study provides a strategy to improve the diagnosis of coeliac disease in the community by combining the benefits of antibody and genetic testing.”