Public Attitudes Toward Genetic Risk Testing and Its Role in Healthcare

Holly Etchegary


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

In This Article

Conclusion & Future Research Priorities

The current review suggests that the general public, as well as disease-specific populations, shows a high level of interest in genetic testing and new genomic technologies. Attitudes are largely positive and supportive of research with the potential for improving health outcomes. Strengths of this literature comprise the inclusion of both general populations and disease-specific populations, as well as mixed methodologies that encompass both qualitative and quantitative research designs. The very breadth of this literature, however, along with the varied measures of attitudes and behaviors, makes it difficult to draw comparisons across studies. Further, most research designs are cross-sectional and not guided by any formal attitude theory, making it difficult to observe and explain changes in attitudes over time. There are a number of areas that would benefit from future research as outlined below.

The Design of Genomic-informed Behavioral Interventions

The real potential for genomic medicine to influence health outcomes rests heavily with patient and public acceptance of screening and/or lifestyle advice post-testing. Research to date has focused heavily on early-discovered genes (notably inherited breast, ovarian and colon cancer) and the psychological and behavioral effects (e.g., screening) of providing DNA risk information based on these rare mutations. This focus underestimates the complexity of genetic contributions to complex diseases, where each individual variant only confers modest increases in disease risk.[17] Research into the behavioral effects of providing risk information associated with complex, common disease is in its infancy and should be a priority for future research. As noted, current evidence suggests that while genomic risk information can function as a cue to action for health behavior change, it does not seem adequate on its own to encourage and maintain behavior change.[7,17,18,73] It is known that changing risky health behaviors is notoriously difficult, and individuals likely need some form of evidence-based health coaching or education strategies to encourage and maintain health behavior change following genomic testing.[18,64,76]

Currently, it is not known whether the addition of DNA risk information adds any value to behavioral interventions already used in pressing public health problems (e.g., smoking cessation and healthy eating, among others). Future research is urgently needed to evaluate whether and how new understandings of genomic risk can favorably influence health outcomes. Ideally, this line of research might follow a systematic series of steps in order to overcome methodological weaknesses of first-generation studies in this area (e.g., small sample sizes, retrospective designs and restricted populations such as students or women).[7] McBride and colleagues[7] suggest that initiating this line of research should begin with systematic literature reviews that identify the areas with the greatest potential to influence behavior change, such as genetic phenotypes associated with the relevant health condition under study. Such evidence reviews might be followed with conceptual models that map the complex relationships between genomics, environment and lifestyle factors and which allow hypotheses to be constructed and tested formally in prospective studies.[7]

Health Communication & Genetic Literacy

Health communication research is also needed to determine what kind of information will best encourage accurate understanding and interpretation of genomic information.[2,17] While the public has a fairly high awareness of genetics and interest in genetic testing, they do not have a clear understanding of gene–environment interactions, disease penetrance, or the probabilities used to stratify individuals into genetic risk categories. Greater research attention must be devoted to develop evidence-based ways to condense the vast amount of information provided by WGS to individuals of varying levels of health literacy. In this way, both equitable access to and informed decision-making about new genomic discoveries are encouraged.

Theoretically Guided Research Designs

Finally, in her review, Condit[5] notes that public opinion and attitude research to date has been largely atheoretical and ignored the vast literature on attitude formation and processes. With few exceptions, most of the studies exploring beliefs and attitudes about genetics have not engaged with scientific theories of attitude and belief formation. Engaging with this literature, however, would allow formal testing of belief linkages and attitude formation and could also assist with predicting change in attitudes over time as new genomic technologies become more familiar.[5] Most of the research to date has been cross-sectional, with no attention paid to changing trends in attitudes and beliefs. A long-term focus might be important, however, given the continuing rise of DTC testing and the declining cost of WGS. As more and more genetic tests find their way into clinical practice, an examination of how people's beliefs guide their attitudes and behaviors in relation to genetic testing would be valuable and have explanatory power if guided by attitude theory.

More broadly, the field has not explored in depth particular aspects of attitudes about genetics which may have implications for the provision of genetic health services or policy preferences. For example, how people's beliefs about the privacy of their genetic information affect their preferences for informed consent models (e.g., blanket consent and specific consent for each study, among others) is largely unknown.