Genetic screening for iron overload: No evidence of discrimination at 1 year

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Original Research

Genetic screening for iron overload: No evidence of discrimination at 1 year

J Fam Pract. 2007 October;56(10):829-833

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References

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Discussion

Legal definitions and jurisdictions: Their role in discrimination

In the present study, all 3 participants who reported problems received a clinical examination based on elevated blood iron measures (transferrin saturation and serum ferritin). We verified no problems among participants with any C282Y or H63D HFE genotypes (including both homozygotes or heterozygotes). Therefore, under prevailing definitions, the reported problems do not appear to constitute “genetic discrimination.”¹⁵ Furthermore, we received no verified reports of problems with employment or health insurance, for which legal protections are much stronger than for other types of potential discrimination.¹⁹

Of note, though: None of our study jurisdictions had legal protections against genetic discrimination by life insurers or long-term-care insurers, and these are the 2 areas where our participants encountered problems. This suggests that existing legal protections may be somewhat effective, although it is also consistent with the argument that such protections address potential problems that are rare or nonexistent.¹

Examining the individual case reports (TABLE 2), insurance was denied outright in just one case, involving long-term care insurance, and that participant had health problems unrelated to iron overload that could have contributed to the denial. In the 2 life insurance cases, one person was insured with the help of a physician’s letter, and the other person obtained insurance with an increased premium.

TABLE 2
Characteristics of the 3 participants reporting insurance problems

Race	Caucasian, Asian, Pacific Islander (one each)
Gender	Two males and one female
	PARTICIPANT 1	PARTICIPANT 2	PARTICIPANT 3
Age	over 64	45–64	45–64
Genotype	normal (wild-type) HFE	normal (wild-type) HFE	normal (wild-type) HFE
Phenotype	Elevated transferrin saturation (51%) and serum ferritin (917 mcg/L)	Elevated transferrin saturation (53%) serum ferritin (740 mcg/L)	Elevated transferrin saturation (76%) and serum ferritin (2871 mcg/L)
Other health problems	Obese; spherocytosis; reported history of arrhythmia	Reported history of thalassemia trait	Reports 5 alcohol servings per day; evidence of liver abnormality
Study classification	Primary iron overload	Cause of iron overload indeterminate	Cause of iron overload indeterminate
Reported problem	Denied long-term-care insurance by 2 large companies	Obtained life insurance but at an increased rate	Initially denied life insurance, but successfully appealed with a physician’s letter stating no iron overload
Notes	Self-rated health status of 2 (“fair”) out of 5 (“excellent”)	Participant believes this was not due to participation in HEIRS Study, but was due to iron elevations that were identified by the study and reconfirmed by independent testing done for the insurance company	Reports that iron level returned to normal after ceasing to drink red wine

Limitations of this study

Because this study had only a 1-year follow-up period, it provides no basis for determining the long-term prevalence of insurance or employment problems. However, it appears that after 1 year, the extent of these problems is very small. No verified problems were reported by newly identified C282Y homozygotes or by participants with any other C282Y or H63D HFE genotypes.

Our findings contrast with the 20% prevalence of discrimination among hemochromatosis patients reported by Shaheen et al.¹⁶ Their study, however, evaluated subjects who had been diagnosed in routine medical care to have hemochromatosis an average of 4.5 years before discrimination evaluation, and who were under treatment for iron overload.

FAST TRACK

None of the 3 reported problems involved health insurance or employment—areas with strong legal protections against discrimination

Verification contacts in our study were made with those reporting a problem, which may have resulted in some underreporting among respondents. Also, we did not determine which participants sought or changed insurance during the study period, so we do not know the exposure rate to potential discrimination. Nevertheless, these findings provide some empirical basis for informing clinicians, researchers, patients, and Institution Review Boards that the risk of insurance or employment problems following genetic screening for hemochromatosis appears to be quite small.

Funding/Support

This study is supported by contracts N01-HC05185 (University of Minnesota), N01-HC05186 (Howard University), N01-HC05188 (University of Alabama at Birmingham), N01-HC05189 (Kaiser Permanente Center for Health Research), N01-HC05190 (University of California, Irvine), N01-HC05191 (London Health Sciences Centre), and N01-HC05192 (Wake Forest University).

Additional support was provided by the Howard University General Clinical Research Center (GCRC) grant, M01-RR 10284, and the UCSD/UCI Satellite GCRC grant, M01-RR 00827 (University of California, Irvine), sponsored by the National Center for Research Resources, National Institutes of Health. Additional support was provided by the University of Alabama at Birmingham General Clinical Research Center (GCRC) grant M01-RR 00032, Southern Iron Disorders Center, Howard University GCRC grant M01-RR 10284, Howard University Research Scientist Award UH1-HL03679-05 from the National Heart, Lung, and Blood Institute and the Office of Research on Minority Health; and grant UC Irvine M01 RR 000827 from the General Clinical Research Centers Program of the National Center for Research Resources National Institutes of Health. These funding organizations participated in the study’s design and conduct, and they approved publication of this paper, but they did not directly participate in the collection, management, analysis, or interpretation of the data or the preparation of this manuscript.