In this observational study of individuals at risk for an inherited, fatal neurological condition, individuals who pursued genetic testing feared losing their medical insurance and frequently paid for genetic testing and other health services out of pocket to conceal their risk from insurers and employers. While the cost of the medical services paid for out of pocket was frequently small (e.g., $200 for genetic testing), some medical expenses (such as pre-implantation genetic diagnosis, in which fertilized embryos of parents at risk for HD or with the HD gene are screened and only those that do not carry the gene are implanted) were quite expensive ($25,000-$30,000). This finding echoes more general results, in which researchers have found that individuals may pay out of pocket for genetic testing for a variety of conditions to conceal their risk from insurance companies [Billings et al., 1992
, Hall & Rich, 2000
Overall, the principal reasons for not pursuing genetic testing in this population were the inability to “undo” knowledge gained, comfort with risk and uncertainty, and the lack of an effective treatment for Huntington disease. Those who eventually pursued genetic testing were less likely to report comfort with uncertainty or lack of an effective treatment as reasons for choosing not to be tested at baseline.
Together the results may suggest a two-step decision-making process for genetic testing. The first is to identify a rationale (if any) to pursue testing (e.g., reduce uncertainty about the future, guide life planning). The second is to address practical considerations of that decision (e.g., risk of insurance loss, potential social stigma of carrying the gene for a disease). Under this decision making process, the initial decision to seriously consider testing is not heavily influenced by fear of insurance loss. However, once the individual has decided based on life planning and other concerns to consider testing, at that point the fear of insurance loss becomes salient.
This two stage process is consistent with what we find in this study: the perceived risk of insurance loss was large among those who pursued testing, and a large proportion of those who pursued testing took active measures (e.g., paying for health care expenses out of pocket) to mitigate this risk. Our results suggest that insurance loss emerges only as a primary concern for those who decide to pursue genetic testing. For those that do not pursue genetic testing, insurance loss is less of a concern, at least during their pre-symptomatic phase.
To address the possible risk of health insurance loss among those who are at risk for genetic conditions, President Bush has recently signed into law the Genetic Information Non-Discrimination Act (GINA) on May 21, 2008 [The White House, 2008
]. Some members of Congress argued that the bill was “a solution in search of a problem,” but the mapping of the human genome and the increased availability of testing for genetic conditions has made the issues addressed in the law much more salient [Chase, 2007
, Slaughter, 2006
, United States House of Representatives, 2007b]. The bill, which goes into effect 12 months (for health insurance companies) and 18 months (for employers) from the date it was enacted [Harmon, 2008b
], will prohibit health insurance companies and employers from obtaining access to genetic information, requiring genetic testing, or discriminating against individuals due to genetic risk factors. Although there is debate about whether insurance companies would use genetic information even if permitted [Nowlan, 2007b
], this bill would likely limit the perceived risk of such discrimination, which is the focus of this study. Our findings suggest that GINA could alleviate a significant concern of those who pursued testing for Huntington disease and reduce their financial expenditures. Currently, at risk individuals who have health insurance appear unwilling to use their health insurance to cover some health care expenses related to their underlying genetic risk out of fear that they may lose that very source of financial and health security.
In this study, U.S. residents were more concerned than Canadian residents about losing health insurance as a consequence of pursuing testing, and U.S. residents who pursued testing were much more likely to pay out of pocket for health care expenses than Canadian residents. This is consistent with the overall experience of populations in these countries: among random samples of individuals in these countries, Americans are much more likely than Canadians to report paying out of pocket for health care [Schoen et al, 2004
]. The presence of universal health insurance in Canada but not in the U.S. probably drives these differences. GINA could help mitigate these differences in the U.S. However, GINA does not protect against genetic discrimination beyond health insurance and employment.
Psychological differences seem to play a limited role in the eventual decision to undergo genetic testing. However, the psychological attributes of Canadian and U.S. residents do differ. U.S. residents have significantly higher rates of religious well-being, which may reflect the generally higher level of religiosity among U.S. residents [McCleary & Barro, 2006
], and may not be specific to those at risk for Huntington disease. U.S. residents also have lower rates of depression, although this does not seem to be reflective of the overall population in these countries, or of people with other serious illnesses [Vasiliadis et al, 2007
, Lopes et al, 2004
The findings here echo, to some extent, existing literature on genetic testing. Disclosures of HD risk within families appears to be limited, in part, by the fear that others will not be able to cope with knowing of their risk [Klitzman et al., 2007
]. In the early years of cystic fibrosis genetic testing, research found some insurance concerns driving limited testing, as well as similar issues with not being comfortable knowing one’s risk [Fanos & Johnson, 1995
]. The data here, from a very large prospective study in two countries, reinforce the concern about insurance loss and highlight the tangible actions (paying for health care expenses out of pocket) that asymptomatic U.S. residents at risk for Huntington disease take to address this fear.
Although HD is, in some ways, an unusual genetic disorder in that a positive gene test indicates certainty of disease onset, it is not unique, and the findings here may be informative about testing for other genetic disorders. Despite this, extending our results to other genetic disorders should be done with caution, taking into account possible differences across conditions.
There are limitations to the current study. First, we undertake multiple statistical comparisons here and do not adjust our measure of significance levels to take this into account. However, in many cases (for example, comparing payment out of pocket among those who pursue testing to those who did not) the results were significant at much higher than the 0.01 level. In addition, the results, especially those pertaining to health insurance and health expenditures, are internally consistent with one another.
Second, when comparing U.S. and Canadian residents, we are comparing individuals who are participating at sites in each country, even though they may not live in that country. In practice, most individuals in the study participated at centers near their residence. The study population also may not be representative of the population at risk for Huntington disease as the individuals recruited in this study were predominantly women [Huntington Study Group PHAROS Investigators., 2006
Third, we do not currently have clinical or testing outcomes for study participants, which would be helpful in learning, for example, whether their self-perceptions of genetic risk are accurate. Eventually information on gene status will be available from the ongoing PHAROS study, and further analyses of the data will allow us to observe differences across individuals related to their true gene status.
Fourth, in ranking reasons for not pursuing testing, respondents were generally forced to choose one of the reasons listed. There was a free response “other” option given, but only 7% of individuals reported anything in this category.
Fifth, very generally, this is a volunteer study, and as has been noted elsewhere [Huntington Study Group PHAROS Investigators, 2006
] this may lead to differential selection of participants than a random sample study. In particular, this cohort is skewed towards women, highly educated people and those who are gainfully employed. This selection may limit the degree to which we can generalize the results.
Finally, the insurance survey was introduced part way through the study, at which point there had been some attrition in the sample. The baseline characteristics of the two populations, however, were generally similar.
In sum, this study finds that fear of insurance loss is a dominant concern among individuals at risk for a genetic disorder and that individuals will act to conceal this risk from their health insurers, even at considerable personal expense. As genetic testing becomes more widely available for increasingly common medical conditions [Herper & Langreth, 2007
, Topol et al., 2007
], these issues are likely to take on heightened importance. Current proposed federal legislation (GINA) may alleviate some of the fear and burden that many individuals at risk for genetic conditions currently bear.