Public Attitudes Toward Genetic Risk Testing and Its Role in Healthcare

Holly Etchegary

Disclosures

Personalized Medicine. 2014;11(5):509-522. 

In This Article

Complex Considerations Underlie Attitudes About Genetic Testing

Test Utility

Perhaps it is not surprising, then, that despite high levels of interest in testing, interest does not always translate into uptake. Rather, positive attitudes about genetics depend heavily on the area of genetics and how the genetic technologies will be applied.[2,5] For example, technologies (including genetic testing) that lead to the detection, prevention and/or treatment of disease are viewed very favorably, particularly those where testing can be followed by clinical action.[4,27] Positive attitudes in these testing contexts may arise partly from the belief that genetic testing produces a degree of control over one's health, or in the case of newborn screening, one's child's health. For example, Shaw and colleagues varied both availability of treatment and the risk of getting the disorder in their survey study and found less interest in testing when the probability of getting the disorder was less than 100% and no treatment was available.[40] Such considerations are highlighted when considering the uptake rates of genetic testing in high risk families across a range of disorders. For example, uptake rates are higher for those disorders such as inherited breast and colon cancer, where the possibility of treatment exists, than for those such as Huntington disease where no ameliorative measures are possible.[41,42]

In newborn screening contexts, perceptions of test utility are also complex. Parents have expressed an interest in newborn screening even when no treatment is possible.[25,35,36] Research suggests these decisions are driven by a broader conception of utility than medical or clinical aspects. Rather, parents may intend to use the information derived from newborn screening to 'be prepared' for the birth and upbringing of a child with a disorder, or they may intend to use such information in future reproductive decisions.[25,35,36,43] Majorities of parents express the belief that parents have a fundamental right to have any and all information about their children, regardless of how that information would be used.[25]

Unacceptable Uses of Testing

Across multiple genetic technologies, attitudes are strongly related to the purpose for which they are used.[5] As noted, the public is very interested and supportive of testing and technologies that are used to prevent, treat or cure human disorders, but they evince quite negative attitudes toward the use of technologies for sex selection, cosmetic features, or for preventing/diagnosing low IQ or homosexuality.[5,44,45] Condit suggested that features such as gender or IQ may be regarded as fundamental to one's identify and therefore immutable; attempting to somehow change such features may be perceived as distorting a 'naturally' given order.[5] In several research studies, this concern manifests itself in opinions about 'playing God'.[5,8,46,47] Calnan and colleagues concluded that "support for genetic technologies seems to depend on what it was used for. Treating or detecting diseases was valued but general interventions that aim to change 'natural' processes were less acceptable".[46] This attitude is evident in the robust rejection of human cloning,[5] perceived as something that 'threatens the natural order of things'.[48]

Individual & Societal Concerns About Testing

Public engagement research has also increased in an attempt to explore public opinion and acceptance of emerging biobanks and new genomic technologies.[49,50] This research reveals largely positive attitudes and a willingness to participate in biobanks and large genomic cohort studies. They are also instructive, however, in revealing areas of concern that are held by the public, suggesting once again that complex considerations underlie positive attitudes about genetics. For example, in several research studies, our research team has noted public acceptance and willingness to participate in genetic research and interest in genetic testing for promoting health,[47,51–53] but also parallel concerns about the ability of testing to effect positive health outcomes, the protection of personal health information and the potential for psychological harms (e.g., worry, family rifts) raised by testing. In the USA, widespread support (84%) was found for the creation of a large genetic cohort study; 60% of Americans indicated they would participate.[54] Support for the study and willingness to take part did not vary among demographic groups; however, aspects of the research design such as study burden and whether individual results would be returned to participants did affect willingness to participate.

Consistently, findings from public engagement research reveal generally positive attitudes toward genetics, but also notable areas of public concern, including the potential misuse of genetic research to promote eugenics, the possibility of insurance and/or employment difficulties, the privacy and protection of genetic information, as well as the return of individual research results.[50–56] These findings point to areas of concern that must be addressed in order to foster public trust and participation in genetic research and testing.

Racial Differences in Attitudes Toward Genetics

While not a significant focus of public opinion research, some studies have explored racial differences in attitudes toward genetic testing and other aspects of personalized medicine. Broadly, research suggests more general suspicion among African–Americans than among other groups, although this does not translate into less interest in personal testing.[5] In a detailed survey study, Singer and colleagues reported that African–Americans and Latinos were less knowledgeable about genetic testing than Caucasian Americans and were less likely to have the financial or insurance resources to access testing. However, these groups were more likely to express interest in prenatal and adult genetic testing than Caucasian respondents.[57] A recent survey in the USA found non-Hispanic African–American participants were more concerned about the use of genes without consent, discrimination based on genes, and access to testing due to cost than non-Hispanic Caucasian respondents.[58] The authors suggested that such disparity was concerning as it could highlight healthcare innovations that are underutilized by African–Americans. Similarly, Caucasian participants were more likely to express interest in pharmacogenetic testing than African–American respondents.[59]

However, studies that measure individual willingness to take a genetic test either find no difference among ethnic groups or find a greater interest in minority groups.[5,57] For example, African–American and Hispanic women were somewhat more likely to express interest in prenatal genetic testing than Caucasian women in a US telephone survey.[60] A recent survey study found that once personalized medicine was explained, a majority of African–American respondents identified benefits to its use and would allow their doctors to use it when administering health care.[58] Thus, while there may be some trends in the relationship between race and attitudes toward genetics, these do not appear to contribute much to attitudinal variance. Condit has noted, "perhaps precisely because demographic variables manifest themselves as complicated intersections in real individuals, no single demographic factor strongly drives attitudes about genetics across contexts".[5] That is not to suggest that racial/ethnic differences in access to genetic services and understanding of the potential benefits of new genomic technologies are unimportant. Rather, further study with minority groups to understand the factors that influence the acceptance of new genomic technologies is needed to realize the benefits of personalized medicine.

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