Examining the Clinical Use of Hemochromatosis Genetic Testing

Lanktree, Matthew B.; Lanktree, Bruce B.; Paré, Guillaume; Waye, John S.; Sadiković, Bekim; Crowther, Mark

doi:10.1155/2015/941406

Cited by 8 publications

(10 citation statements)

References 24 publications

(19 reference statements)

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“…This ''one-button order'' is a tool designed specifically for our institution, based on local ordering patterns and patient characteristics. 7 Authors from a Canadian academic tertiary medical center observed a higher number of C282Y homozygotes (8.1%) than our positivity rate of less than 3.38%, which suggests practice differences in testing threshold and detection rate. 7 At our institution, which has a large referral base, transferrin saturation appears to be superior to ferritin levels as the initial test when HFE-HH is suspected.…”

Section: Discussioncontrasting

confidence: 68%

“…7 Authors from a Canadian academic tertiary medical center observed a higher number of C282Y homozygotes (8.1%) than our positivity rate of less than 3.38%, which suggests practice differences in testing threshold and detection rate. 7 At our institution, which has a large referral base, transferrin saturation appears to be superior to ferritin levels as the initial test when HFE-HH is suspected. These differences highlight institutional variability and the need for institution-specific interventions.…”

Section: Discussioncontrasting

confidence: 68%

“…5,6 Other institutions have also studied utilization of this test, which allowed us to compare our local ordering patterns to those of other practices. 7 If our current practice was concordant with recommendations, no interventions would be necessary. If it was discordant, we would attempt to understand provider ordering patterns and leverage electronic decision support to improve compliance, which has been successfully used, as reported by Riley et al 8 Hereditary hemochromatosis due to homozygous C282Y mutations in the HFE gene is a well-known cause of inherited iron overload syndrome.…”

mentioning

confidence: 92%

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A Novel Approach to Improving Utilization of Laboratory Testing

Zhou¹,

Procop²,

Riley³

2017

Archives of Pathology &Amp; Laboratory Medicine

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Context.-The incorporation of best practice guidelines into one's institution is a challenging goal of utilization management, and the successful adoption of such guidelines depends on institutional context. Laboratorians who have access to key clinical data are well positioned to understand existing local practices and promote more appropriate laboratory testing.Objective.-To apply a novel approach to utilization management by reviewing international clinical guidelines and current institutional practices to create a reliable mechanism to improve detection and reduce unnecessary tests in our patient population.Design.-We targeted a frequently ordered genetic test for HFE-related hereditary hemochromatosis, a disorder of low penetrance. After reviewing international practice guidelines, we evaluated 918 HFE tests and found that all patients with new diagnoses had transferrin saturation levels that were significantly higher than those of patients with nonrisk genotypes (72% versus 42%; P , .001).Results.-Our ''one-button'' order that restricts HFE genetic tests to patients with transferrin saturation greater than 45% is consistent with published practice guidelines and detected 100% of new patients with HFE-related hereditary hemochromatosis.Conclusions.-Our proposed algorithm differs from previously published approaches in that it incorporates both clinical practice guidelines and local physician practices, yet requires no additional hands-on effort from pathologists or clinicians. This novel approach to utilization management embraces the role of pathologists as leaders in promoting high-quality patient care in local health care systems.

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Section: Discussioncontrasting

confidence: 68%

Section: Discussioncontrasting

confidence: 68%

mentioning

confidence: 92%

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A Novel Approach to Improving Utilization of Laboratory Testing

Zhou¹,

Procop²,

Riley³

2017

Archives of Pathology &Amp; Laboratory Medicine

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“…A second cohort of patients was obtained following a systematic chart review of patients submitted for hemochromatosis genetic testing to Hamilton Health Sciences, of which routine HFE genetic testing results have been published . Inclusion criteria were biochemical evidence of iron overload (transferrin saturation >55% or ferritin >450 μg/L) and that the patient had been submitted for hemochromatosis genetic testing by their primary physician.…”

Section: Methodsmentioning

confidence: 99%

Clinical evaluation of a hemochromatosis next‐generation sequencing gene panel

Lanktree

Sadiković

Waye

et al. 2016

European J of Haematology

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“…It should be noted, however, that it may not be necessary to identify all C282Y homozygotes as C282Y homozygotes without signs of iron overload seem to be at low risk of developing HH complications [ 17 ]. The trend towards increased HFE typing in individuals without biochemical signs of iron overload [ 18 ] highlights the need for the establishment of iron overload prior to genotyping for a more favourable cost-benefit ratio.…”

Section: Discussionmentioning

confidence: 99%

Evaluation of a screening program for iron overload andHFE mutations in 50,493 blood donors

et al. 2020

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Early detection of individuals with hereditary hemochromatosis (HH) is important to manage iron levels and prevent future organ damage. Although the HFE mutations that cause most cases of HH have been identified, their geographic distribution is highly variable, and their contribution to iron overload is not fully understood. All new registered blood donors at the Sahlgrenska University hospital between 1998 and 2015 were included in the study. Donors with signs of iron overload at baseline and subsequent follow-up testing were recommended genotyping of the HFE gene. Of the 50,493 donors that were included in the study, 950 (1.9%) had signs of iron overload on both test occasions. Of the 840 donors with iron overload that performed HFE genotyping, 117 were homozygous for C282Y, and 97 were compound heterozygotes. The prevalence of C282Y homozygosity was 0.23%. Iron overload screening effectively detects individuals at risk of carrying the C282Y mutation of the HFE gene and enables early treatment to prevent HH complications.

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Examining the Clinical Use of Hemochromatosis Genetic Testing

Abstract: A significant proportion of hemochromatosis genetic testing does not adhere to current guidelines and would not alter patient management.

Cited by 8 publications

References 24 publications

A Novel Approach to Improving Utilization of Laboratory Testing

A Novel Approach to Improving Utilization of Laboratory Testing

Clinical evaluation of a hemochromatosis next‐generation sequencing gene panel

Evaluation of a screening program for iron overload andHFE mutations in 50,493 blood donors

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