Introduction

Developments in the field of genetics have started to accelerate thanks to the Human Genome Project (1990–2003), a large-scale research project in which research groups from around the world worked together to obtain more insight into the human genome.1 Alongside an expansion in scientific knowledge on genetics, time and money were also invested in the investigation of the possible social, ethical and legal implication of genetic developments, better known as ELSI issues.2, 3 One often cited ELSI issue is the problem of genetic discrimination. This is usually defined as ‘the differential treatment of asymptomatic individuals or their relatives on the basis of their real or assumed genetic characteristic’.2, 4 There exists a high level of concern about this form of discrimination.5, 6 Since the 1990s, policymakers have reacted to this threat of genetic discrimination and the accompanying worries by developing regulations.7 The establishment of such regulations had to meet several aims: prohibit genetic discrimination, reduce the accompanying fear and prevent people from refusing to take a genetic test or to participate in genetic research out of fear for genetic discrimination.8 An overview of the existing regulations can be found in the articles of Joly et al.7 and Van Hoyweghen.9

The results of the systematic literature review from Joly et al. suggests that there is insufficient unequivocal evidence whether or not genetic discrimination is actually present in the context of life insurance.10 In addition, the literature highlights the shortcomings of those studies in which evidence is given for genetic discrimination, in the insurance but also in the employment and the family, social and public context. These latter studies often contain methodological flaws, complaints about genetic discrimination prove to be exaggerated5, 11, 12, 13 and what is described as evidence is often merely anecdotal.3, 12 Nevertheless, it is suggested in the literature that the concern that personal genetic information can and will be misused does exist.8, 14 Because of their concern, some choose to only undergo genetic testing anonymously, to turn to commercial companies which offer what is called direct-to-consumer testing, or to simply not take a genetic test.15 They thereby hope to keep personal genetic information out of the hands of third parties. However, these people then miss out on the positive consequences of a genetic test, such as prevention or treatment. These precautions may cause additional stress.11 An illustration of this is the story of a woman with a family history of alpha-1-antitrypsin deficiency in the US.16 She was afraid that she would be unable to get health insurance or a job if a positive genetic test for the aforementioned genetic disease would be listed on her medical records. She therefore decided to get the genetic test done through a commercial company. She concealed the positive result, and tried to keep the illness under control herself. This continued until she realized that concealing the genetic condition was harming her health.

Given the lack of evidence of genetic discrimination on the one hand, and the fears on the other hand, it appears necessary to investigate what is already known about concerns and fears surrounding genetic discrimination. What research has been conducted, and what do these studies teach us about what lies behind these concerns? In the rest of this article, we discuss our systematic literature research on the fears and concerns for genetic discrimination.

Materials and Methods

The aim of this article is to produce clarity regarding existing knowledge on concerns and fears for genetic discrimination. Such an overview is necessary as researchers have usually investigated this topic in the context of only one single genetic mutation and/or one single geographic region. Because of this, very specific information on the fears of genetic discrimination is available, but insight into global trends is currently absent. A systematic literature review of existing studies is the accepted method to bring these trends to light. It is a research method in which scientific studies are compared in a systematic and repeatable way.17 Alongside the creation of clarity, the results of a systematic literature review can also help determine the right direction for future research.

One important step when conducting a systematic literature review is the inclusion of relevant studies. To standardize the literature search, we decided on several criteria.17 First, the included studies had to conduct research on concerns or fears about genetic discrimination. This was understood very broadly. For example, it is possible that the results of a study analyzing the barriers to participation in genetic testing demonstrate that concern regarding discrimination in insurance is an important barrier for many respondents; such a study would be included in our review. Second, a substantial part of each included study should discuss fears and concerns of genetic discrimination; this should be reflected by mention of fears or concerns of genetic discrimination in the title or abstract. Last, it was necessary that the included studies dealt with the experiences and perceptions of those who could become the victim of genetic discrimination. Studies were not included on the basis of specific regions, genetic conditions or contexts of genetic discrimination, such as insurance or employment, because we suspect that the scope of current research is relatively limited. If subsequently the collected studies should appear to be too wide ranging, additional inclusion criteria were applied.

The literature search (Figure 1) began with entering (a combination of) specific search terms (‘genetic’, ‘discrimination’, ‘fears’, ‘concerns’, ‘insurance’, ‘employment’, ‘genetic test’, ‘study’ and ‘research’) into various medical and social science databases. These databases were: PubMed, Google Scholar, Social Science Research Network and Web of Science (Social Sciences Humanities Proceedings and Social Sciences Citation Index/SSCI). This resulted in a provisional collection of 1813 articles. This collection was only ‘provisional’ because we considered it to be reasonable that, on the one hand, additional studies might be included based on references in the already included articles and, on the other hand, some of these studies might be rejected after content analysis as not containing relevant information.

Figure 1
figure 1

Search Strategy. Flow diagram describing the selection of eligible studies included in the systematic literature review.

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In a second phase, we searched for the abovementioned search terms in the title and abstract of each article. The collection of included studies was hereby reduced to 48 articles. Subsequently, the already included studies were used to search for additional relevant studies. The bibliographies were gone through, and similar studies were found using Google Scholar. This resulted in eight extra studies. In the following phase, a thorough content analysis was conducted. The 56 articles were read several times, and a data extraction form, which outlines of each study was drawn up by the first author (AW). This form outlines the research aims, methodological choices, outcomes of interest and other relevant information15 and facilitates the organization and comparison of results. The second author (IVH) commented on the data collection, the analysis process and the results were reviewed for accuracy. During the content analysis, 14 articles turned out not to be relevant for our research, and were excluded. It is typically difficult to determine if any studies have been missed, but we can conclude that the search strategy has been conducted with enough precision that all relevant articles have been identified.

Results

Scope and context

Our search strategy resulted in a total of 42 studies. Table 1 offers an overview of the most important characteristics of these studies. The included articles span 19 years of scientific research (1996–2014; Figure 2). This means that research on fears about genetic discrimination is relatively recent, which is not surprising given that developments in genetics only started accelerating in the last 30 years. Several other trends in the research conducted to date are revealed. For example, there is a lack of diversity in the countries or regions studied (Figure 3). More than half of the research has been conducted in the United States, followed by a few studies in Canada and Australia. European research is limited to two studies, in the Netherlands and Germany, respectively. Diversity in the countries is possibly significant because legislation on the use of genetic information and the type of healthcare system—private or public—differs from country to country.8, 9

Table 1 Revised studies (1996–2014)
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Figure 2
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Overview studies by year of publication. Bar chart offering an overview of the number of studies published in the exact year (1996–2014).

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Figure 3
figure 3

Proportion of studies by country. Pie chart illustrating the proportion of studies by studied country (in percentages). Studies were conducted in five countries (The United States, Canada, Australia, the Netherlands and Germany).

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An overview also reveals that studies usually investigate the fear for genetic discrimination in the context of only one genetic mutation. A total of 19 different genetic mutations are mentioned, which can be divided into two categories. On the one hand are monogenic diseases, typified by a relatively conclusive genetic test due to the fact that the genetic component completely determines the development of symptoms. On the other hand are multifactorial diseases where a combination of a range of genetic factors and non-genetic factors determine whether or not the illness will manifest. The results of genetic tests for this second type of disease are far less unambiguous. In addition, genetic diseases differ in terms of the implications of a positive test result, the clinical profile, and prevention and treatment possibilities. The different characteristics of genetic diseases might impact the type or degree of concern and the existence of genetic discrimination.11

A further trend relates to the lack of research into genetic discrimination in the interpersonal sphere—for example, by family members or friends.8 Only 6.06% of studies have researched this form of discrimination (Figure 4). The remaining studies focused on concerns about institutional discrimination—by insurers and employers—or discrimination in general. Furthermore, it can be noted that the research aims vary across the 42 studies. Research into concerns about genetic discrimination was the main objective in only six of the studies. In addition, it is striking that in the majority of the studies, data were collected by means of a survey. As we wish to gain insight into the underlying reasons for discrimination fears, it is necessary to conduct more qualitative research. Related to this, considerable diversity is noticeable when comparing the applied definition of genetic discrimination. In the majority of studies it is not made explicit how genetic discrimination is defined, which makes the comparison more complex.

Figure 4
figure 4

Proportion of studies by context of genetic discrimination. Pie chart illustrating the proportion of studies by studied context of genetic discrimination (in percentages). Four contexts of genetic discrimination were investigated (Insurance, employment, familial, social and public sector and discrimination in general).

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This initial overview is valuable as it reveals the characteristics of the studies that have been conducted to date. Fears for genetic discrimination appear to have hardly been researched in Europe, Asia, South America and Africa. Moreover, the topic has only been studied in a limited number of domains, in terms of geography and in terms of the context (institutional vs interpersonal discriminating actors). In the rest of this article, we present specific results on fears and concerns of genetic discrimination.

There is a real concern about genetic discrimination

A first important trend is that all of the included studies have shown that concerns about genetic discrimination are present in the studied population. For example, Bombard et al.18 in their research on people at risk of carrying the genetic mutation that causes Huntington’s disease, found that 86% of respondents feared genetic discrimination. Other studies determined that genetic discrimination is one of the barriers mentioned most often for undergoing a genetic test.19, 20, 21, 22, 23, 24, 25, 26, 27, 28, 29, 30, 31, 32, 33, 34, 35, 36, 37, 38 In the study of Kass et al.38 a person at risk for colon cancer stated “I would not be tested for any genes for the fact that someone can use it and I wouldn’t be covered for it’’ (p. 712).38 None of the studies refuted the existence of such fears. However, the size of the fear did vary between studies. It is difficult to know which factors could explain this difference as the studies differ on so many characteristics.

In addition, the results from nine studies suggest that concerns about genetic discrimination are greater than the actual occurrence of discrimination.18, 32, 39, 40, 41, 42, 43, 44, 45 McKinnon et al. in their study on carriers of a BRCA gene and the gene for Lynch syndrome in the United States stated for instance that fear for genetic discrimination in the context of insurance is common, but the data collected do not provide any evidence that discrimination on a large scale is actually occurring.43 So what is the background of these fears and concerns? We will revisit this question later in the article.

One genetic disease is not like another

Fear for genetic discrimination has been studied in the context of 19 different genetic mutations to date. The specific genetic disease studied appears to have an impact on the degree of fear. For example, the fears of people who carry a genetic mutation for Huntington’s disease, as reported in various studies,8, 18, 24, 42, 46, 47 appears to be systematically greater than the concern for genetic discrimination reported by potential carriers of a genetic mutation that can cause breast and ovarian cancer.21, 28, 29, 33, 40, 41, 43, 48, 49

The research of Klitzman compares multiple genetic diseases. A suggestion is made as to why concerns and experiences of discrimination might differ depending on the disease confronting the individuals studied.11 Three genetic diseases (Huntington’s disease, breast cancer and alpha-1-antitrypsin deficiency) which differ in terms of prevalence and treatment possibilities were selected. Through the selection of different diseases it was aimed to study the full range of issues and perspectives that may emerge. Certain diseases appear to be more readily associated with stigma or discrimination, regardless of whether they are genetic or not. For example, Huntington’s disease can cause non-specific, non-diagnostic psychiatric problems possibly resulting in interpersonal difficulties. The disease could result in negative differential treatment, not because of the genetic character but because of these behavioral problems. This possibly influences the existence and fear of different forms of discrimination. It is often difficult to distinguish between these different forms of discrimination. Individuals at risk for Huntington’s disease rather experience these forms as a whole in daily life.24

Fear for genetic discrimination resonates most in context of insurance

The results from various studies suggest that the concern of becoming the victim of genetic discrimination is greater in insurance contexts than in the context of employment. For example, Erwin et al.24 have investigated the perceptions and experiences of genetic discrimination of potential carriers of Huntington’s disease in the United States, Canada and Australia.24 It was found that 77% of the respondents were concerned about insurance discrimination. In contrast, 44% of the respondents reported concern about discrimination in the context of employment. Furthermore, fear of genetic discrimination in insurance appears to form a greater hindrance to participation in genetic testing than concern about discrimination at work.18, 21, 22, 24, 29, 31, 33, 36 In a Canadian study of Ashkenazi women, Phillips et al.33 conclude that concern about discrimination in insurance forms a barrier for participation for 28% of the respondents, whereas only 8% of those questioned reported that the possibility of discrimination by employers is an impediment to getting tested for the BRCA1/2 gene. The fact that fears for genetic discrimination in insurance are relatively high, should come as no surprise. Otlowski et al.15 state that insurance has a high potential psychological and social value for those who are insured.50 Being insured can have a considerable influence on the welfare and opportunities of those insured.

Notwithstanding that insurance discrimination seems of greater concern than employment discrimination, concerns are quite elevated in the latter context as well. This could be illustrated by a quote in the study of Rose et al.36 As an interviewee in this study told: “I don’t think there are adequate laws to protect people who may have gotten a positive result. First, health records are not kept private. So somebody who has a positive result doesn’t have any reassurance that the information would [not] get into the wrong hands. Also there really aren’t any laws making it illegal to discriminate against someone because of this, like employers and health insurance companies” (p. 148).

Furthermore, it appears that potential discrimination within one’s own family or other personal interactions also raises considerable concern.18, 24, 42, 47 Lemke8 refers to this as ‘interactional discrimination’. In a study by Bombard et al.,42 this concern together with the fear of discrimination in insurance was the most mentioned. Brendan, an interviewee who tested positive for Huntington’s disease, feared stigmatization and said in the interview: “Huntington’s is something that I would be concerned to just blurt out in a social setting because it would change the way people think. I mean that would change things immensely… that would absolutely change how people deal with me (p. 286). Interactional discrimination has been much less studied than other contexts in which genetic discrimination can be expressed.8 This kind of discrimination is characterized by more spontaneous forms of stigmatization or disrespect.8 This was indicated in the study of Klitzman11 as well. Discrimination can be very subtle and not visible. This makes it hard to prove. One woman stated: “I just was worried about being viewed differently… I don’t know if discrimination is the right word—but it’s probably the best word” (p. 72). These subtle forms of discrimination can have a major impact on people’s lives as well (for example, not undergoing a genetic test, influencing life decisions like moving or changing jobs). Because of this, additional stress might arise and this potentially provokes illness.

Legislation is unable to (completely) alleviate or prevent fears for genetic discrimination

Several studies included in this systematic literature review have investigated the impact of legislation on fears and concerns for genetic discrimination.11, 26, 39, 43, 47, 51, 52 The American study of Allain et al.19 specifically investigated the influence of the Genetic Information Nondiscrimination Act (2008; GINA), the American law to provide protection with regard to health insurance and employment, on genetic testing for BRCA1/2 mutations. Fear for insurance discrimination was the second most common reason to decline genetic testing. Furthermore, it was found that more than half of the respondents were not aware of GINA. As part of the study, all respondents were informed about GINA and its protection. The majority of respondents indicated that the information about GINA made them less worried about insurance discrimination. However, Allain et al. argue that awareness of legislation will not completely alleviate fears. As mentioned before, genetic discrimination is often subtle, subjective and difficult to prove.11 Legislation might not be able to react adequately to these forms of discrimination. In addition, the results of Allain et al.’s study show that people have questions about how GINA will be enforced. Educating people about GINA seems a simple task, whereas creating trust in this legislation is more difficult.

So, as found by Allain et al., lack of awareness about legislation is not the only reason to be concerned about discrimination. A non-American study that is interesting in this regard is the Dutch study of Geelen et al.51 Despite Dutch regulations to forbid genetic discrimination this study has shown that people still fear genetic discrimination. Therefore Geelen et al., have attempted to create more clarity regarding the origin of fears for genetic discrimination. The personal stories of six families suggest that negative experiences of life with illness in the family led to some postponing genetic testing or regretting having undergone testing or. These testimonies suggest that fear for genetic discrimination does not result from the possibility to undergo testing or not. The earlier negative experiences of living in a family with disease made relatives worry about genetic discrimination. So, other forms of disadvantaged treatment and stigmatization than purely genetic discrimination seem to prompt fear in these families. The story of the Goldfield family helps to clarify this. After family member Ted was diagnosed with clinically manifest hypertrophic cardiomyopathy his life-insurer charged him an extremely high premium and Ted’s ability to continue performing his job as truck driver was cast in doubt. Out of fear that they too might be treated in the same way after a positive result, several family members decided not to undergo genetic testing. As stated by Ted’s relative: “You might be restricted in all your actions and refused by insurance; so what the eye doesn’t see, the heart doesn’t grieve over. If you really don’t know about being predisposed to increased thickness of the myocardium, you don’t commit insurance fraud when saying you are healthy.” Geelen et al. then argue that it is comprehensible that genetic non-discrimination regulations are not the right answer to alleviate fears of genetic discrimination. These laws emphasise the novelty and special character of genetic discrimination. Geelen et al.’s research, however, demonstrates that families, even before coming into contact with the genetic part of the illness, will already have to deal with many other forms of stigmatization and discrimination and regulations do not cope with these experiences. In addition, Geelen et al. suggest that the fear of genetic discrimination does not seem directly related to exclusion from insurance or employment but to larger concerns of privacy protection and disclosure of issues that are preferred to be kept as ‘family secrets’. The importance of family experiences on concerns of genetic discrimination was observed in a Canadian study as well.42 Individuals at risk for Huntington’s disease became aware of genetic discrimination through symptomatic relatives’ experiences of stigma and discrimination.

Furthermore, Geelen et al.51 came to another interesting conclusion. It is argued that the strict distinction between genetic and non-genetic information, that is made in legislation and in the classic definition of genetic discrimination, is not always clear for the affected families. In another American study, the interviewed patients and their family members did not appear to see the distinction between symptomatic and non-asymptomatic individuals as sharply neither.11 Moreover, it was argued that the disorders themselves have ‘grey zones’. This refers to the possible and/or non-specific symptoms of diseases that appear often before the disease is really diagnosed, but these might cause discrimination as well. In a German study the same conclusion was made.46 Instead of a clear distinction, a continuity of discriminatory practices was found.

To conclude, exclusive protection for genetic information in legislation does not appear to be an appropriate answer to concerns about genetic discrimination. Living as a person in a family for generations long seems to generate concerns and worries regardless of the specific genetic character of the disease. Therefore it is imperative to focus more on family dynamics and individual’s experiences of living with the social consequences of a disease, than considering awareness regulations as the sole solution.53

Discussion and Conclusion

In this article, we have explored interesting trends and results in present research about genetic discrimination by reviewing existing studies on concerns and fears for genetic discrimination in a global context. The results of the 42 included studies all independently indicate that a considerable proportion of respondents have concerns or fears of genetic discrimination. By reviewing the articles we detected some interesting findings with regard to these fears. These results point out where more research is needed.

First of all, it is suggested that the type of genetic disease may influence the existence and size of fears of genetic discrimination. People seem to be highly concerned about discrimination in the context of Huntington’s disease. As stated by Klitzman, this is a monogenic disease for which no treatment is available and, which is associated with a lot of stigma and possible discrimination, independent of the genetic character of this illness.11 However, individuals at-risk for other, multifactorial diseases (for example, hereditary breast- and ovarian-cancer) indicate to be concerned as well. Future research needs to examine whether the treatment options and the existence of stigma of different diseases may affect if and to what extent people are afraid to be discriminated against and whether this influences them in making important life choices (for example, to undergo genetic testing or to move).

A second trend concerns the context of genetic discrimination. Concerns for genetic discrimination appear especially high in the context of insurance and within social relationships. Notwithstanding the high concerns in the context of insurance, discrimination in the employment context is often mentioned as well. Interactional discrimination has received much less attention in research in comparison with the insurance and employment context.8 However, in studies in which this form of discrimination was discussed, concerns seemed considerably high. It is suggested that interactional discrimination is characterized by more spontaneous forms of stigmatization or disrespect.8 It is often implicit and subtle, which makes it hard to prove. Future research needs to incorporate these more implicit and subtle forms of disrespect and stigmatization because they influence the life choices people make.

Finally, and most importantly, legislation prohibiting genetic discrimination does not seem to (completely) alleviate fears of genetic discrimination. In several studies it was found that people were not aware of regulation forbidding genetic discrimination. Therefore it is often suggested that educating people might alleviate fears of genetic discrimination. However, exploratory research into the origins of these fears suggests that this lack of awareness on regulation might not be the only reason why people are still concerned. Fears seem to arise from pre-existing experiences of living with the social consequences of disease in the family.11, 42, 51 For example, the negative treatment of a symptomatic relative seems to heighten anxieties among asymptomatic individuals. This way, people appear to not distinguish between symptomatic and asymptomatic individuals, a distinction that is often made in legislation. Furthermore, diseases often have ‘grey zones’: people may be discriminated based on symptoms that are not yet recognised as caused by a genetic disorder.

To conclude, four recommendations for future research are given. First of all, future research has to assess more fully all different forms of genetic discrimination. It seems that not only overt discrimination, but also more subtle and indirect forms of discrimination influence the choices individuals make. Secondly, our review suggests that knowledge on the origins of fears of genetic discrimination is still very limited. Gaining insight in these backgrounds is imperative because this will guide us to effective ways to cope with fears of genetic discrimination. Thirdly, people do not seem to make a clear distinction between symptomatic and asymptomatic individuals. Future research needs to assess whether genetic discrimination represents a form of discrimination that needs to be distinguished from discrimination experienced by disabled or chronically ill persons. Finally, a last element that should be addressed is the most recent developments in research on genomics, such as next-generation sequencing or genome-wide association studies. It has now become possible to scan an individual’s genome at a reasonable price62. This increases the availability of predictive information. While most studies included in this systematic literature review focused on monogenic diseases, it is important for future research to study whether and how new genomic tools, such as genomic sequencing, will influence the abovementioned issues and the debate on genetic discrimination. By incorporating these recommendations in future studies we will be able to rethink the concept of genetic discrimination and the protection given to it.