Effect of Ambiguous Hemochromatosis Gene Test Results on Physician Utilization

Speechley, Mark; Alter, David; Guo, Helen; Harrison, Helen; Adams, Paul C.

doi:10.1097/mlr.0b013e318245a06e

Cited by 5 publications

(4 citation statements)

References 7 publications

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“…In this setting, the patient often attributes all of their symptoms to this genetic test result and may be seeking disability benefits. In the HEIRS study, patients with ambiguous genetic test results sought medical attention more frequently in the year following their gene test result . This is clearly an adverse effect of genetic testing.…”

Section: Genetic Testing For Hemochromatosismentioning

confidence: 99%

Epidemiology and diagnostic testing for hemochromatosis and iron overload

Adams

2015

Int J Lab Hematology

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Summary Hemochromatosis is the most common genetic disease in northern European populations. Body iron stores progressively increase in most patients, which can lead to cirrhosis of the liver, hepatocellular carcinoma, heart failure, arthritis, and pigmentation. Simple blood tests such as the serum ferritin and transferrin saturation are useful to suggest the diagnosis which can be confirmed in most cases with a simple genetic test for the C282Y mutation of the HFE gene. However, these blood tests are often misinterpreted and there are rare patients with iron overload without HFE mutations. A diagnostic approach is presented based on a large referral practice and a population‐based study (HEIRS) which screened for iron overload in 101 168 participants.

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Section: Genetic Testing For Hemochromatosismentioning

confidence: 99%

Epidemiology and diagnostic testing for hemochromatosis and iron overload

Adams

2015

Int J Lab Hematology

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“…We are also increasingly comfortable with tests for oligogenic conditions like hemochromatosis in which compound heterozygotes (one copy of two different mutant alleles) can also be affected by the disease [Santos et al . 2012; Speechley et al . 2012], but we have only begun to develop abilities to interpret results pertaining to polygenic disorders.…”

Section: Application/interpretation Of Biomarkersmentioning

confidence: 99%

“…Most of us are familiar with interpretation of monogenic disease tests like those used to diagnose sickle cell anemia, in which the sequence variant is clearly present or absent. We are also increasingly comfortable with tests for oligogenic conditions like hemochromatosis in which compound heterozygotes (one copy of two different mutant alleles) can also be affected by the disease [Santos et al 2012;Speechley et al 2012], but we have only begun to develop abilities to interpret results pertaining to polygenic disorders. These trends apply equally well to other types of biomarker interpretation.…”

Section: Safety (S)mentioning

confidence: 99%

Personalized medicine for osteoarthritis: where are we now?

Sawitzke

2013

Therapeutic Advances in Musculoskeletal

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Personalized medicine is a much talked about subject that is a timely and important development to healthcare in general and also specifically for patients affected by osteoarthritis. This review uses biomarker examples pertinent to osteoarthritis to highlight the current status of the field, while also highlighting probable future developments. It is not meant to be an exhaustive account. The BIPED(s) [Burden of disease, Investigative, Prognosis, Efficacy, Diagnosis (safety)] classification system is used to organize the discussion of examples. Biomarkers pertaining to burden, investigation, prognosis, efficacy, diagnosis and safety are highlighted. The examples are followed by a discussion of issues related to interpretation and application of biomarker results and approaches to solve the challenges interpretation faces, including graphical, mathematical and synthetic representations. Through this review, it is hoped that a better appreciation can be gained of the potential and pitfalls of personal medicine in the care of patients with osteoarthritis.

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“…There are different approaches and solutions to these common clinical problems. The future may include multigene genetic panels; however, the interpretation of these results will require tertiary care consultation and, in some cases, ambiguous genetic test results increases anxiety and health care costs (8). eDiTORial ©2015 Pulsus Group Inc. All rights reserved…”

mentioning

confidence: 99%

Genetic Testing for Hemochromatosis: Diagnostic or Confirmatory Test for Iron Overload?

Adams

2015

Canadian Journal of Gastroenterology and Hepatology

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Effect of Ambiguous Hemochromatosis Gene Test Results on Physician Utilization

Cited by 5 publications

References 7 publications

Epidemiology and diagnostic testing for hemochromatosis and iron overload

Epidemiology and diagnostic testing for hemochromatosis and iron overload

Personalized medicine for osteoarthritis: where are we now?

Genetic Testing for Hemochromatosis: Diagnostic or Confirmatory Test for Iron Overload?

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