Public Attitudes Toward Genetic Risk Testing and Its Role in Healthcare

The general public displays a fairly high awareness of genetics, even if they lack a clear understanding of the technical language used by genetic healthcare professionals or the probabilities used to stratify individuals into genetic risk categories. For example, most people are familiar with core concepts in genetics such as genes and DNA, and they understand that hereditary material is passed from parents to children. The public also seems to understand that human disease is not solely caused by genes, but is influenced by environmental and other causes. A meta-analysis of research on genetic knowledge concluded that ‘the general public is reasonably aware of the genetic risk factors of multifactorial diseases’. However, the public does not display a clear understanding of the concept of gene–environment interaction, nor how genetic risk factors affect the development of disease in relation to other risk factors.

Broadly speaking, multiple studies suggest that the public is fairly positive about genomics and new genetic technologies. For example, a large body of research shows that attitudes toward genetic testing for predisposition to common, complex disorders are highly favorable, with large majorities indicating they would be personally willing to use genetic testing for specific conditions. Even in sensitive areas such as genetic testing for psychiatric disorders or disorders for which there is currently no cure (e.g., Alzheimer’s disease), interest in testing is high. For example, in the REVEAL study, a series of randomized trials carried out between 2000 and 2013, more than 700 participants have undergone genetic testing for this incurable illness [e.g.,. Similarly, parents show high interest in newborn screening for a variety of conditions, including those for which there is no cure (e.g., blindness, fatal neurological conditions). 

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.

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