Abstract
Purpose This study measured the extent of insurance and employment problems associated with population screening for hereditary hemochromatosis and iron overload.
Methods 101,168 primary care patients from the US and Canada were screened for iron phenotypes and HFE genotypes associated with hemochromatosis. Those identified to be at risk (2253) were offered a clinical examination, which 1677 (74%) accepted, and the 1154 of these who responded to an initial questionnaire about psychosocial issues were surveyed 1 year later about whether they had experienced problems with insurance or employment that they attributed to hereditary hemochromatosis and iron overload.
Results 832 (72.1%) of the 1154 participants surveyed after 1 year responded to the second survey. Three (0.4%) had verified problems with insurance or employment that they believed were related to hereditary hemochromatosis and iron overload. Two had problems with life insurance, and one with long-term care insurance. All 3 had elevated iron levels but not a relevant HFE genotype. One of the life insurance problems was resolved; the second one was not serious. The participant who was denied long-term care insurance had other health conditions unrelated to hereditary hemochromatosis and iron overload that could have contributed to the denial. No problems were verified for health insurance or employment, or from any of the comparison group participants (controls and those with inconclusive screening results).
Conclusions The risk of insurance or employment problems 1 year after phenotype and genotype screening for hereditary hemochromatosis and iron overload is very low.
Social risks from genetic testing are a major public policy concern in medical genetics and genetics research.1-3 These concerns are focused mainly on health insurance, as insurers have an incentive to avoid those clients it will be costly for them to insure. This concern also applies to employers, who pay for most private health care in the US.
Since the beginnings of the Human Genome Project in 1990, legislation has been proposed to head off possible genetic discrimination. The Health Insurance Portability and Accountability Act of 1996 (HIPAA) prohibited most insurers from considering genetic risks as preexisting conditions. Since the 1990s, all but 2 states have passed laws that limit genetic discrimination in health insurance; 34 states ban or limit genetic discrimination by employers.4 In addition, a piece of federal legislation is pending. The Genetic Information Nondiscrimination Act, intended to prohibit health insurance and employment discrimination on the basis of genetic information, passed the House in April 2007 but, at press time, had not been voted on by the Senate.
Because state laws usually do not apply to life or disability insurance, and their applicability to employment is inconsistent, the potential for discrimination problems is still of concern to patients with costly conditions that may be uncovered by genetic screening.
Hereditary hemochromatosis—early detection is key
Members of the health care community have expressed concern that genetic discrimination will hamper efforts to detect and mitigate hereditary hemochromatosis, a relatively common condition marked by iron overload, which can lead to irreversible organ damage and related health problems.5-9 Hereditary hemochromatosis is an autosomal recessive condition that typically is associated with 2 copies of the C282Y mutation in the HFE gene on chromosome 6, although the H63D HFE mutation is also associated with hereditary hemochromatosis in some cases.10,11 If detected early, health problems from iron overload can be prevented by periodic phlebotomy. Not surprisingly, then, there is public health interest in the screening and detection of hemochromatosis or iron overload before symptoms arise.9,12-14
There are documented instances, however, of healthy people who experienced discrimination in insurance or employment based on having a phenotype or genotype associated with hereditary hemochromatosis.8,15,16 Alper and colleagues noted that “[i]n a general screening program of 100 million people…even if only 5% of these people [who screen positive for hereditary hemochromatosis] encounter discrimination, this amounts to approximately 28,000 people.”8 Alper’s speculation has not been tested because no large-scale studies of discrimination resulting from screening the general population have been conducted.
This study looks to identify possible social risks from genetic screening by surveying a large and diverse racial/ethnic primary care population participating in a study of iron overload and hereditary hemochromatosis in the US and Canada. We have sought to determine the number and types of problems associated with insurance and employment 1 year after screening and clinical examination for relevant hereditary hemochromatosis phenotypes and genotypes.
Methods
The data for this analysis come from the Hemochromatosis and Iron Overload Screening (HEIRS) Study. A full description of the study’s rationale, design, and methods has been published elsewhere.17