Although our result for awareness of DTC genetic tests (56%) was higher than that reported in the United States in the 2006 HealthStyles Survey (14%) and for Hispanic (25%) and non-Hispanic (30%) respondents in the 2008 US HINTS (overall prevalence, 29%) using the same survey item (14
), the lack of awareness in our sample was nevertheless high. Meanwhile, use of genetic tests in Puerto Rico (4%) was higher than that reported in the United States by the 2006 HealthStyles National Survey 1%, but lower than that reported in the 2008 US HINTS survey overall 8% and for Hispanic 9% and non-Hispanic respondents 8%. Although causal attributions cannot be established from these data, the higher awareness and use of genetic testing observed in Puerto Rico relative to mainland estimates coincides with more marketing and availability of such tests over time (24
Similar to what has been seen in the US mainland (14
), instead of health care professionals, the Internet was the primary source of information for DTC tests in our study. This source of information is of concern because a systematic analysis of websites promoting nutrigenomic services in 2006 showed that organizations that either sold or promoted these tests did not provide adequate information about nutrigenomic services and at-home genetic testing in terms of laboratory certifications, test validity or utility, or genetic counseling (16
Even though this lack of professional information could be because limited data are available to support the products currently on the market (14
), the rapid growth in the availability of health-related DTC genetic tests offers an opportunity for professional organizations to develop and promote their posture regarding the use of these tests and highlights the need for the development of consistent recommendations (15
); these measures will support the tests' appropriate use as more data become available. Clinicians should advise their patients that currently available testing has little value for disease risk ascertainment but should use the opportunity to direct patient counseling toward modifiable risk factors, such as tobacco cessation (25
). Government regulation regarding the use of these technologies will also be essential (26
Consistent with the results of our study, previous research from US HINTS has identified a positive relationship between health information seeking and genetic test awareness (23
). Whereas, although the 2006 HealthStyles data revealed a higher prevalence of genetic test awareness among respondents younger than 65 years and those with at least a high school education, neither age nor education were associated with awareness of genetic tests in Puerto Rico. Neither our study nor the study by Goddard and colleagues (14
) identified significant associations between sex or family history of cancer and test awareness. Similar results have been observed for Hispanics in the 2000 and 2005 National Health Interview Survey, specifically for genetic testing for increased cancer risk (13
). However, these findings are inconsistent with research reporting more awareness and use of genetic tests among women and people with a family history of cancer (5
). For family history, the lack of association could be explained by the low proportion of people in our study with family history of cancer (low statistical power). Meanwhile, the association between smoking status and awareness of DTC genetic tests is particularly interesting given that this group is at an increased risk of multiple chronic diseases and could be a group that benefits from DTC testing in the future, if the benefit of testing is established.
Health disparities exist in cancer occurrence by race/ethnicity (28
). Some of these disparities may be explained by differences in lifestyle and environmental or genetic risk factors across populations. Although we do not focus our analysis on genetic testing specifically for cancer risk, genetic cancer screening may provide needed motivation and opportunities for prevention because people with basic knowledge about inherited cancer risk and awareness of genetic testing for cancer susceptibility mutations may make more informed choices about their health care services (27
). Although Puerto Ricans living in the United States show the highest level of awareness of genetic testing for cancer risk compared with other Hispanic subgroups (13
), socioeconomic and racial/ethnic disparities in use of genetic counseling and testing for cancer susceptibility continue to exist (8
). One explanation for the lower awareness and use of genetic tests for cancer risk in racial/ethnic minority populations, particularly Hispanics, is that they are less exposed to health information through the health care system partially because of language barriers (8
). Low awareness about genetic testing among Hispanics may increase cancer disparities in this group (29
). Thus, to guard against the possibility of tests becoming a source of health disparity (29
), DTC and cancer-specific genetic tests that have proven health benefits in the future should be made equally available to all who might benefit from them.
Our study is subject to limitations. First, because HINTS-PR was a telephone-based survey, it includes data only from residents who have a working landline telephone. Consequently, our data may not be generalizable to the entire adult Puerto Rican population. Nonetheless, the weighted extended interview response rate in the 2009 HINTS-PR (76.4%) was higher than that reported for the 2007 US HINTS (60.4%) (30
). Second, the prevalence estimates were based on self-reported information, which is subject to recall and social desirability biases. Third, the small number of respondents who had used genetic tests did not permit us to explore correlates of this behavior. Finally, our estimates of awareness of DTC tests and use of genetic tests may be inaccurate if respondents did not fully understand or misinterpreted the study questions. In fact, even though the research question used to determine DTC genetic test awareness included a brief explanation of these tests, some people may not understand what a genetic test is; this clarity issue should be carefully addressed in future studies.
To our knowledge, this study provides the first published data on the awareness of DTC genetic tests and use of genetic tests in Puerto Rico. These baseline data are valuable for tracking trends in awareness of DTC tests and use of genetic tests in Puerto Rico and can inform the development of policy and educational efforts regarding the appropriate use of these tests. We expect that the proportion of people who are aware of and use these tests will continue to increase, as more of these tests become available, as their marketing increases, and as the Internet and other sources of information become more widely available to the general population. Given the lack of clear benefits of DTC genetic tests to the general population, educational interventions should be developed to increase awareness and specific knowledge regarding the appropriate use of DTC genetic tests among people who are already aware of their existence (primary audience). As a clear message about these tests is in circulation, people who are unaware (secondary audience) may start to become more adequately aware of them. Future studies should try to elucidate remaining questions in this area of genetic testing, such as the prevalence of disease-specific genetic testing in clinical settings, and other psychosocial correlates of genetic testing awareness, including attitudes, beliefs, and cultural or religious norms regarding their use.