Examining the clinical use of XXXX genetic testing.

@entity1 @entity14398 @entity71558 @entity69 @entity14399 @entity9595 @entity1284
BACKGROUND: @entity9595 leads to an increased lifetime risk for end-organ damage due to @entity1284 . Guidelines recommend that genetic testing be performed in @entity1 with clinical suspicion of @entity1284 accompanied by elevated serum ferritin and @entity69 saturation levels. OBJECTIVE: To evaluate guideline adherence and the clinical and economic impact of @entity14398 genetic testing. METHODS: The electronic charts of @entity1 submitted for @entity14398 testing in 2012 were reviewed for genetic testing results, biochemical markers of @entity1284 and clinical history of phlebotomy. RESULTS: A total of 664 samples were sent for testing, with clinical, biochemical and phlebotomy data available for 160 @entity1 . A positive @entity14399 homozygote or @entity71558 compound heterozygote test result was observed in 18% of @entity1 . @entity1 with an at-risk @entity14398 genotype had significantly higher iron saturation, serum iron and hemoglobin (P<0.001), without higher ferritin or liver enzyme levels. Fifty percent of @entity1 referred for testing did not have biochemical evidence of @entity1284 ( @entity69 saturation >45% and ferritin level >300  g   L). @entity1 were four times more likely to undergo phlebotomy if they were gene test positive (RR 4.29 [95% CI 2.35 to 7.83]; P<0.00001). DISCUSSION: One-half of @entity1 referred for testing did not exhibit biochemical evidence of @entity1284 . Many @entity1 with biochemical evidence of @entity1284 , but with negative genetic test results, did not undergo phlebotomy. A requisition to determine clinical indication for testing may reduce the use of the @entity14398 genetic test. Finally, improvement of current genetic test characteristics would improve rationale for the test. CONCLUSION: A significant proportion of @entity9595 genetic testing does not adhere to current guidelines and would not alter @entity1 management.
