Details of HTA project
Last updated: 15 July 2008 - Next update due: 22 July 2008
Research type: |
Secondary Research (e.g. systematic review) |
Project title: |
Diagnostic strategies using DNA testing for hereditary haemochromatosis in at-risk populations |
Project ref: |
05/07/04 |
Cost: |
£116,217 |
Chief Investigator : |
Professor Andrew Clegg, Director - SHTAC, Wessex Institute for Health Research and Development, University of Southampton |
Start Date: |
March 2006. |
Publication date: |
August 2009. This project is at the editorial review stage. Delays in the review process can cause the forecast publication date to be delayed. |
Plain English Summary |
Haemochromatosis is a disease where a person is genetically predisposed to absorb too much iron from their food. The excess iron builds up in various organs in the body (e.g. liver, pancreas, heart, joints) and causes organ damage. It is possible to prevent organ damage by removing blood and therefore removing iron. The challenge is to identify those people who would benefit from treatment. The gene has been identified and it is now feasible to use genetic testing to identify cases. It is not clear whether the genetic test is better or worse than existing tests - iron levels and liver biopsy. This proposal addresses the question of the usefulness and value of using genetic testing for haemochromatosis in two situations: 1 To make a firm diagnosis of haemochromatosis in those already suspected of having the disease. 2 To identify family members who may be at risk of developing haemochromatosis We propose to use the literature and information from experts to create two decision trees which will compare and establish the costs and consequences of using genetic testing and testing for iron levels in the above two situations. This project does not involve doing research on patients or members of staff, any ethical concerns are therefore minimal. We have a multidisciplinary team involved which includes experts in evaluating genetic tests, experience in carrying out this type of research, medical and genetic counselling expertise in seeing families with this condition and a director of the patient society. We believe that we have the wide range of experience necessary to answer this type of complex question. In order to do the research we need to appoint an experienced research fellow (we hope to appoint someone already in post) and also pay for external expertise in the form of health economic and epidemiological consultancy. The majority of the funds requested will pay for these two items. |
Abstract: |
In haemochromatosis a genetically predisposed individual is unable to regulate how much iron is absorbed from food. The excess iron builds up in various organs of the body (e.g. liver, pancreas, heart, joints) and causes organ damage. It is possible to prevent organ damage by removing blood, therefore removing iron. The challenge is to identify those people who would benefit from treatment. The gene has been identified and it is now feasible to use genetic testing to identify cases. It is not clear whether the genetic test is better or worse than existing tests - iron levels and liver biopsy. This proposal addresses the question of the usefulness and value of using genetic testing for haemochromatosis in two situations: 1. To make a firm diagnosis of haemochromatosis in those already suspected of having the disease. 2. To identify family members who may be at risk of developing haemochromatosis The aim of this project is to establish the clinical validity and utility of adding DNA testing to case detection strategies for haemochromatosis in the above two groups. Decision analysis models will be constructed to compare diagnostic algorithms with and without DNA testing. The models will be populated with data from systematic reviews of the literature with primary data where appropriate, and, where necessary, using expert opinion. A distinction will be made between the use of DNA testing in those suspected of having the disorder and its use in family testing. The outcomes will be a comparison of the costs and consequences of the diagnostic algorithms including the cost per case detected. Secondary outcomes will include unnecessary investigation of those with false-positive diagnoses, avoidance of liver biopsy and missed diagnoses for those suspected of having the disorder. Psychosocial consequences of DNA testing in haemochromatosis will be the subject of a narrative review. |
MeSH* index primary terms: |
HEMOCHROMATOSIS Q-genetics; GENETIC-PREDISPOSITION-TO-DISEASE; DNA Q-genetics; GENETIC-SCREENING; PEDIGREE |
MeSH* index secondary terms: |
HUMANS; COSTS-AND-COST-ANALYSIS; VALIDATION-STUDIES; FEASIBILITY-STUDIES |
NRR* number, if applicable: |
N0484174474 (*National Research Register) |
Project Protocol: |
Project protocol (pdf format, 560 kbytes) |
URL of this page: |
http://www.hta.ac.uk/1502 |
News feeds