Patient acceptability of genotypic testing for hemochromatosis in primary care

Anderson, Roger T.; Press, Nancy; Tucker, Diane C.; Snively, Beverly M.; Wenzel, Lari; Ellis, Shellie; Hall, Mark A.; Walker, Ann P.; Thomson, Elizabeth J.; Lewis-Jack, Ometha; Acton, Ronald T.

doi:10.1097/01.gim.0000177531.53338.65

Cited by 23 publications

(14 citation statements)

References 36 publications

(34 reference statements)

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“…A recent meta-analysis [78] reviewed only 3 small cohorts and, although the evidence was limited, concluded that there is no demonstrable rise in anxiety levels or decrease in quality-of-life scores following testing. This concurs with population screening studies, which have found both genotypic and phenotypic methods to be acceptable and producing no evidence of psychological disturbance [79,80].…”

Section: Diagnosis and Screeningsupporting

confidence: 85%

The global burden of iron overload

2009

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There have been major developments in the field of iron metabolism in the past decade following the identification of the HFE gene and the mutation responsible for the C282Y substitution in the HFE protein. While HFE-associated hemochromatosis occurs predominantly in people of northern European extraction, other less-common mutations can lead to the same clinical syndrome and these may occur in other populations in the Asian-Pacific region. The most common of these is the mutation that leads to changes in the ferroportin molecule, the protein responsible for the transport of iron across the basolateral membrane of the enterocyte and from macrophages. Recent research has unraveled the molecular processes of iron transport and regulation of how these are disturbed in hemochromatosis and other iron-loading disorders. At the same time, at least one new oral iron chelating agent has been developed that shows promise in the therapy of hemochromatosis as well as thalassemia and other secondary causes of iron overload. It is pertinent therefore to examine the developments in the global field of iron overload that have provided insights into the pathogenesis, disease penetrance, comorbid factors, and management.

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Section: Diagnosis and Screeningsupporting

confidence: 85%

The global burden of iron overload

2009

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“…Cadet et al attributed the effectiveness of this reverse cascade screening program largely to a dedicated genetic counseling program, accessible medical information, and pre-established protection from insurance discrimination. In the Hemochromatosis and Iron Overload Screening Study (HEIRS), patient education regarding the nature of HFE testing, the importance of disease detection, and privacy protection was an essential factor for achieving high rates of screening participation [58].…”

Section: Discussionmentioning

confidence: 99%

Prevalence of Hfe Mutations in California Newborns

Hoppe

Watson

Long

et al. 2006

Pediatric Hematology and Oncology

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Advances in molecular diagnostics have led to an increased interest in expanding population-based screening to include genetic diseases that occur outside the newborn period. Hereditary hemochromatosis may be a candidate for large-scale screening in populations with a high prevalence of the common HFE mutations. To determine race-specific frequencies of the HFE mutations, C282Y and H63D, the authors applied an automated, high-throughput genotyping method to dried blood spot samples from a representative population of California newborns. In this sample of 3989 newborns, C282Y and H63D allele frequencies were highest in white (C282Y: 5.5 +/- 0.5%; H63D: 13.4 +/- 0.76%) and Hispanic (C282Y: 1.8 +/- 0.29%; H63D: 11.9 +/- 0.72%) newborns, and lowest in black (C282Y: 1.3 +/- 0.25%; H63D: 3.0 +/- 0.38%) and Asian (C282Y 0.5 +/- 0.16%; H63D 2.9 +/- 0.37%) newborns. The estimated prevalence of C282Y homozygotes in this multiracial population is 1.4/1000. As additional genetic and environmental risk factors for HHC are identified, neonatal screening may become an acceptable strategy to follow susceptible individuals and prevent clinical disease.

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“…15 A factor analysis of this scale indicated that all nine "worry " items loaded on this single scale, with high internal consistency (alpha of Ͼ.90). The nine health worry items included (1) worry about risk of developing IO or hemochromatosis, (2) thoughts about test results caused problems in work or home life, (3) feeling frustrated that no known mutations have been found to explain IO, (4) worry about confidentiality of test results, (5) feeling that people don't think you're as good as they are, (6) worry about risk to family members, (7) having problems enjoying life because of test results, (8) feeling loss of control because of test results, (9) feeling upset, sad or anxious about test results. Answers range from 1 to 4 where 1 ϭ Never, 2 ϭ Rarely, 3 ϭ Sometimes, and 4 ϭ Often.…”

Section: Health Worrymentioning

confidence: 99%

“…2 Although populationbased HFE screening may be a justifiable way to identify individuals at risk, it is important to evaluate screening risks and benefits, including the impact of an HFE screening program on psychosocial status or quality of life. 3,4 Previous studies examining acceptability of genetic testing for hemochromatosis note HFE genotyping is acceptable to many 5 or even most 6 individuals offered testing, and studies have not shown deleterious psychosocial outcomes. [7][8][9] This has led to a preliminary conclusion that population-based screening should not be discouraged on the basis of potential adverse psychosocial effects.…”

mentioning

confidence: 99%