In this focus group study conducted with predominantly lower income, minority biobank participants, we found that participants’ reasons for taking part in The Mount Sinai Biobank were often altruistic, e.g., to help future generations, advance research, and because it was for a good cause. There was also considerable discussion regarding whether and how the participants would benefit themselves from the research; in some instances, there seemed to be evidence of the “therapeutic misconception,” that is, the belief that by participating their own health would be directly improved through receiving personal genetic test results. In other instances, the perception of potential benefit seemed more to be derived from the belief that by participating they might learn more about a disease or diseases that they were particularly concerned about, often because they themselves or a family member were affected by that disease. These findings suggest that future efforts to engage diverse communities with biobank research may benefit from including information about causes of disease and disease prevention for these communities; to some extent, this may provide both a “teachable moment” about disease prevention as well as a way in which biobank researchers can give back to the communities with whom and for whom they are working.
This is the first study, to our knowledge, that has examined reasons for participating in a biobank among participants recruited from racially and ethnically diverse communities. We found that motives for participating in the Mount Sinai Biobank among this primarily Hispanic and African American population were quite similar to those motives previously reported by others among primarily White populations, e.g., altruism, to learn about personally relevant disease, and for family gain (McCarty et al. 2007
; Ormond et al. 2009
; Lemke et al. 2010
). Two studies have been conducted with biobank participants in the Northwestern University Biobank (The NUgene Project). Ormond et al. (2009
) conducted an interview study using both quantitative and qualitative methods to examine NUgene participants’ motives for participating and understanding of biobank and genetic research, while Lemke et al. (2010
) conducted focus groups to explore NUgene participants’ views on research participation and genetic data sharing; however, in both studies the participants were mainly White (86.0% and 76.0%, respectively). Both NUgene participants and Mount Sinai Biobank participants expressed general altruistic reasons for participating and many anticipated personal and family gain. Ormond et al. (2009
) also reported that several NUgene participants wanted to “give back” to medical research because they had personally benefited from a medical discovery; this was not a sentiment expressed by Mount Sinai Biobank participants in our focus groups. McCarty et al. (2007
) examined 924 self-administered surveys sent to participants in the Marshfield Clinic Biobank. More than one third of participants indicated that the $20 compensation greatly influenced their decision to participate in the Biobank. Although none of The Mount Sinai Biobank participants stated the compensation as a reason they participated, some participants only remembered this part of the biobank enrollment procedure.
While most NUgene and Marshfield Clinic Biobank participants understood that the purpose of the biobank was to benefit future patients, we found that Mount Sinai Biobank participants did not seem to understand the purpose of the biobank. However, when NUgene and Marshfield Clinic Biobank participants were further pressed to explain biobank research, their understanding was more limited (McCarty et al. 2007
; Ormond et al. 2009
; Lemke et al. 2010
Lemke et al. (2010
) also asked NUgene participants about their understanding of and views on genetics and genetic research more generally. Similar to Mount Sinai Biobank participants’ understanding of and views on genetics and genetic research, Lemke et al. (2010
) found limited understanding of genetics and genetic research, but strong support for genetic research. Thus, our findings support previous findings from US studies in which there have been low levels of public understanding of genetics (Lanie et al. 2004
; Kessler et al. 2007
; Christensen et al. 2010
), yet positive attitudes toward genetics research, among both biobank participants and among the general population (Lemke et al. 2010
). The findings reinforce the need for educational efforts to ensure that communities understand the research they are being asked to participate in. Where there was understanding, it was primarily linked to ideas about heredity and inheritance of traits.
None of the previously published biobank participant studies have assessed participants’ attitudes toward personal genetic testing; however, in previous focus group research with underserved, culturally diverse populations who were not enrolled in biobanks, participants indicated that they either felt that genetic testing was “good” since it could lead to disease prevention and preparation, or “a double-edged sword” since it could lead to prevention but could also be used unethically, cause anxiety, or provide false reassurance (Catz et al. 2005
). In contrast to these findings, the majority of biobank participants in our study felt that genetic testing was “a good thing” and expressed interest in receiving personal genetic test results. Only a minority felt that genetic testing would worry them too much: none of the biobank participants expressed the idea that genetic testing was a “double-edged sword”. However, when biobank participants in our study discussed genetic testing of children, they then expressed three distinct views: proponents of childhood genetic testing, dissenters of childhood genetic testing, and childhood genetic testing as a “double-edged sword.”
Our study is particularly important because diverse study populations in DNA biobanks are needed in order not to further widen the already gaping schism regarding available genomic data between majority versus minority groups. As of June 2009, 92% of participants in genome wide association studies (GWAS) were White (Haga 2010
). This matters for many reasons, not least because some diseases are linked to different polymorphisms in different populations. For example, although African Americans and Latino populations experience a disproportionate burden of type 2 diabetes (Florez et al. 2009
), most of the participants in DNA biobanks are of European ancestry (i.e., White) and the majority of type 2 diabetes GWAS have similarly been conducted in European populations (Haga 2010
). Recent studies have shown that multiple type 2 diabetes susceptibility genes reported in European populations have either failed to show association in people of African ancestry (Lewis et al. 2008
) or showed modest contribution to variation in glucose homeostasis (Yang et al. 2010
). By comparison, single nucleotide polymorphisms at type 2 diabetes susceptibility loci identified through GWAS in populations of European ancestry have been shown to have similar effects in Asian (Tan et al. 2010
) and Mexican American (Yang et al. 2010
) populations suggesting that the genetic risk factors may not be identical in different ethnic and racial groups.
Our finding that participants conflated genetic research and genetic testing is in line with findings in previous research (Ormond et al. 2009
). This suggests that this is an important confusion in lay audience’s minds, and emphasizes that future genomics education should include particular effort to make the distinction between genetic testing for research versus genetic testing for clinical and personal uses explicit and clear. It should also be noted however that there were more questions on genetic testing in our topic guide than on any other topic. Thus, it is possible that these findings in our study were influenced by our own emphasis on genetic testing. The confusion may also have been influenced by the fact that the original Mount Sinai Biobank informed consent procedure referred to genetic testing within the context of genetics research. This is not an unusual occurrence; future educational materials may benefit from always making clear when “genetic testing” refers to testing done in the context of research only, and when “genetic testing” refers to testing done specifically with the intention of returning personalized genetic or genomic results back to individuals.
One limitation of our study was that only 9% of our study sample were male and so our findings are not necessarily generalizable to men. Furthermore, because the focus groups were heterogeneous in terms of race/ethnicity, and because the numbers of Whites and Asians were so small, we were unable to attribute or compare any particular views or beliefs between racial/ethnic groups. Although we did not find any major differences in our minority sample compared to previously reported majority groups, a study using homogeneous focus groups (e.g., stratified by race/ethnicity) would be needed to assert this more conclusively. Other limitations of our study include that those that agreed to participate in the focus groups may be more positively disposed to research. Additionally, three participants were recruited from the breast cancer treatment center at MSMC, which may have increased the emphasis on breast cancer in some of the focus group discussions.
However, these limitations must be weighed against the strengths, which include that this study is the first to address reasons for biobank participation in an ethnically and racially diverse community of biobank participants. Individuals from traditionally under-represented racial and ethnic groups comprised the majority of our focus group participants: 49% were Hispanic and 47% were African American. These numbers are broadly reflective of the Mount Sinai Biobank participants overall: as of June 2010, there were 9,542 individuals in the Mount Sinai Biobank, of whom 38% self-identified as Hispanic, 28% as African American, 20% as White, 2% as Asian, and 13% as “Other.” Mount Sinai Hospital is located on the edge of East Harlem in New York City and these numbers are indicative of the racial and ethnic makeup of the population in this geographic location.
In conclusion, this study provides valuable information on the motives, attitudes, and understanding of ethnically and racially diverse biobank participants. Our results are important since previous research has shown that educational programs to improve understanding of genetics are most effective if they build on existing and correct ideas about genetic inheritance and disease risk (Christensen et al. 2010
); thus, the findings will be valuable to the future development of targeted educational materials addressing the information needs and preferences regarding genetics research for diverse communities. It is essential that efforts are made to engage and recruit more racially and ethnically diverse populations into DNA biobanks in the future. Our findings suggest that such efforts might benefit from highlighting relevant potential benefits of the research, and from incorporating information about disease causation and prevention, for these communities.