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Family screening for genetic haemochromatosis: What is the most effective method of contact?
Author(s) -
Clayton Cindy,
Hall Pauline,
Mackin Malcolm
Publication year - 1993
Publication title -
medical journal of australia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 131
eISSN - 1326-5377
pISSN - 0025-729X
DOI - 10.5694/j.1326-5377.1993.tb138051.x
Subject(s) - medicine , family history , family medicine , disease , genetic counseling , ignorance , pediatrics , genetic testing , first degree relatives , genetics , philosophy , epistemology , biology
Objective To evaluate the effectiveness of various approaches to follow‐up screening of family members after genetic haemochromatosis (GH) has been diagnosed in an individual. Design and setting Thirty‐eight patients diagnosed with GH at the Flinders Medical Centre and Repatriation General Hospital in South Australia over a 16‐year period were identified by review of case notes. If possible, a questionnaire and a follow‐up interview were used to obtain information about the screening that had been done and any obstacles to screening that were encountered. Patients were asked to outline a family tree, and indicate who had and who had not been screened and reasons for not screening. Evaluation criterion The number of relatives screened or not screened. Results The families of 71% of patients diagnosed with haemochromatosis were subject to some degree of screening, although complete screening was achieved in only 13%. Approximately a third (30%) of our GH patients were detected by family screening. However, not all relatives who were at risk were screened. Reasons given for not screening were, for example, ignorance about "genetic disease" and fear of treatment. Conclusion Family screening is an important means of detecting new cases of GH. If these findings reflect practice elsewhere, there is a need for education of medical practitioners regarding those who should be screened. More easily accessible information for patients with GH and their relatives would help to overcome some of the problems surrounding identification of the disease. (Med J Aust 1993; 159: 614‐615)