All 49 individuals who participated in one of the 6 focus groups (21 in the 3 NUgene biorepository focus groups; 28 in 3 public focus groups) completed a participant information form. Demographic information from the public and NUgene participant focus groups is presented in table . In both group types, the majority of participants were women. Overall, the NUgene focus group participants were slightly older, more educated, and more likely to be employed than the public focus group participants. In the NUgene focus groups, the majority (76%) of participants was Caucasian; whereas in the public focus groups 46% were African-American and nearly one-third were Hispanic.
Two 5-point Likert scale questions were included in the participant information form to profile general participant views toward medical information and medical research. Overall, the participants’ perspectives were similar between the public and NUgene participants. Approximately half of the public (46%) and NUgene (56%) participants indicated that they were somewhat or very concerned about confidentiality and privacy of medical information (table ), and approximately half of all participants (public 46% and NUgene 48%) reported that they were somewhat or very trusting of medical research (table ).
Concern about confidentiality and privacy of medical information
Major Themes Identified
Five major themes were identified in the focus groups (table ).
A Wide Spectrum of Understanding of Genetic Research
The focus group participants’ views and understanding of genetic research varied considerably within and between groups. The majority of participants associated genetic research with diseases and only a few participants in both focus group types mentioned specific genetic research data sources such as stem cells, DNA, tissues, ‘bio-blood’ and‘spit’. However, in one of the NUgene focus groups, there was considerable discussion about non-disease applications of genetic research, such as breeding Labradoodles, cloning cows, and conducting animal husbandry.
Expressions of both excitement and hope regarding the potential of genetic research were shared in all focus groups along with concern and fear. In one public focus group, a participant stated, ‘So to me, what we are doing is great for the future … I think they are doing a great service.’ In stating a specific concern about genetic research, one of the public group participants said, ‘I live in a high crime area and I'm scared that what if they took my DNA and put it on somebody.’Other focus group discussions involved describing the opportunity for misuse of genetic research information such as ‘playing god’, ‘genetic discrimination’ and ‘Big Brother’. Another concern raised was how genetic research findings are shared with the public. One public focus group participant stated, ‘I'd have to say I'm a little skeptical of a lot of this data that they keep, you know … As far as some of the information, they're only going to feel like they only release what they want to release … they tell you what they want you to know.’
Genetic research was also discussed in terms of potentially altering human physical characteristics. One public focus group participant suggested this was a positive development while most other references to this type of genetic manipulation were negative. One NUgene participant stated, ‘It's kind of scary. I think about back in the Hitler days, he was trying to make a perfect baby and now people are going around saying, “I want a blue-eyed baby, do this, do that I want a baby with brown hair.” It's kind of spooky.’
In both the NUgene and public groups, there was lack of clear understanding about genetic research. In describing genetic research, one participant explained, ‘Now, in this day they have to process all of the blood to get all of these sicknesses out of it before they put it into your body … they take the sickness out before they give you the transfusion. That is the genetic research – that's what they do.’
Weighing Pros and Cons of Participation in Genetic Research
Focus group members discussed positive and negative aspects of participating in genetic research. There was more pro discussion for participating in genetic research in the NUgene focus groups than in the public groups. This may be because they had already decided to participate in genetic research. In the public focus groups, more discussion occurred identifying negative aspects of participating in genetic research. However, despite barriers and potential risks, most of the focus group participants indicated that they would consider participating in genetic research.
One of the positive reasons mentioned to participate in genetic research, in all focus groups, was the desire‘to help’. Language used to describe this included: ‘for the greater good’, ‘it just speaks to your heart’, ‘to do my good deed’. Having a family member with a genetic condition was also mentioned as a motivating factor for participating in genetic research. For example, one public focus group participant said, ‘Sometimes you don't feel like participating unless something happens within your own family or community.’ Likewise, a NUgene focus group participant stated, ‘I have a great-nephew who has sickle cell. I know his mother would be like, “Okay, let's do this DNA research.”’ Interest in genetic research and wanting to be a part of scientific achievement was also discussed by participants as reasons to participate. One public focus group participant said, ‘… out of curiosity for the science and stuff’. Another participant from the NUgene focus groups stated, ‘The other thing is, and I think this touches on the very large numbers of people that are necessary in a lot of these studies. So even if any one of us, our genes are not that important, maybe we can do our little bit to share.’
Bettering society by curing disease was also mentioned by a number of focus group participants as a reason to participate in genetic research. One public focus group participant stated, ‘That's your hope, you know, because at the end result you want results on diseases you know. You want some cures. That's the end result.’ Similarly a NUgene participant said, ‘I feel any disease if they can cure it, they can test me, yeah.’ Other reasons mentioned by focus group participants as reasons to participate in genetic research included: potential cost savings to society and ease of participating.
Focus group participants mentioned several reasons for not participating in genetic research. Lack of information about and understanding of genetic research was reported as a potential barrier to participation. For example, one public focus group participant said, ‘I don't really know a lot of what genetic researching does. Like, I haven't seen results of it … So I guess if I felt like it was doing something, you know, I'd be more likely to participate … But like there's so little information out there about it to feel like it's really accomplishing a whole lot.’
A significant barrier to participation mentioned in all focus groups was fear associated with genetic research. Fear of needles related to providing a sample was mentioned and fear of discovering a familial disposition toward a disease were discussed as barriers to participation in genetic research. One public focus group participant said, ‘People, they're afraid of the unknown. So it's like if you don't know, then, … what you don't know can't hurt you.’ Some participants mentioned that knowledge of genetic diseases in their family could influence their decision to conceive; therefore they did not want to have this information from genetic research.
Concern about genetic discrimination, due to the sharing of genetic information as a result of participation in genetic research, was also mentioned by participants as a barrier to participation. Discrimination was perceived possible by insurance companies, the government, the health care system, and employers. For example, one NUgene participant stated, ‘If information is leaked, you could lose many of your personal privacy rights, … job discrimination, insurance discrimination, things like that.’ Another NUgene participant said, ‘I just wouldn't want to be denied care for it because of lack of insurance, because of information that was released about my family history.’
Influences to Participation: Credibility, Trust, and Research Integrity Matter
It was important for the focus group participants to know what organization/agency had oversight responsibilities for genetic research data as well as to clearly understand the research goal and motivation. Reputation and trust were key factors as one NUgene participant stated, ‘I think part of it is probably the reputation of the organization performing the research. Clearly Northwestern and the processes, protocols that have been laid out here are reassuring and the fact that it's Northwestern. Now if some guy standing in front of a storefront medical clinic comes up with a piece of paper and a flipchart and says, “Okay, would you like to sign up here and donate your DNA?” I'd keep walking on the street.’ Insurance companies and pharmaceutical companies were noted as generally distrustful by participants and one public focus group participant suggested: ‘If drug companies are the primary researchers and wanted to do genetic research, I would be very … skeptical. Yes, because I think they are already going into it expecting a certain outcome, you know.’
Across all 6 focus groups there was a consistent theme of distrust of the government as an oversight body for genetic research data. One public focus group participant said, ‘The government does shady things, so you never know where it's going. So you can trust the government like only so far.’ Regarding the government, one NUgene focus group participant stated, ‘I don't even want them having oversight because to me oversight would become access. So that's why just no government involvement.’ Some participants suggested the need for an independent oversight body but were unable to identify a particular entity. One NUgene participant suggested: ‘a NGO (non-government organization) with a volunteer board of directors … who represent a wide slice of the population. That's the only way that you can get people who care.’ Other participants wanted to know more aboutthe underlying motivation for the oversight involvement. One public focus group participant stated, ‘I think I would be more trusting if I could separate … whether that's research, medicine, what have you, from profit. If somehow those 2 are separated in society then I think I can be more trusting.’
Questions and Concerns about Sharing Genetic Research Data and Need for Transparency in the NIH GWAS Data Sharing Policy
In both focus group types, there were varying views on whether or not genetic research data should be shared with other investigators and participants discussed what they would require in order to feel comfortable having their data shared. Some requirements included: (a) similar study purpose, (b) adequate security and privacy checks, and (c) recontact to consent to participate in another researcher's study. Trust in the institution that stored data was again paramount. For example, one NUgene focus group participant said, ‘It shouldn't be available to everyone but I would trust that there are people in charge of that who are looking in the right directions in terms of where that information should go and where it shouldn't.’
Some participants believed that genetic research data was really not going to be shared because the original institution would benefit more by keeping it for themselves. One public participant compared this to how drug companies deal with new research data on medications, ‘And like I said, these drug companies which pay so much more for the research they don't want to share with anyone else.’ Other participants mentioned that they felt a lack of control and that the data would be shared without their input anyway. One public participant stated, ‘It's out of your hands, it's out of your control.’
Focus group participants were asked to review a one page fact sheet that summarized general information about the Policy for Sharing of Data in NIH-Supported or Conducted GWAS (Appendix A). Ninety percent of public and NUgene group members indicated that they had read the fact sheet prior to the focus group, however data was not collected on how many participants accessed the web link to the NIH Policy. Therefore, information discussed in the groups about the NIH Data Sharing Policy was likely primarily based on information provided in the fact sheet. In all groups, focus group participants discussed the need for more information and clarification about the policy. When discussing this policy, it became apparent that not all participants were aware of or familiar with the NIH. One public focus group participant stated, ‘But I was wondering about this, the National Institutes of Health. What's that set up for? What is the make-up of the National Institutes of Health?’ A NUgene participant asked, ‘Who's the head of the NIH … who's making policy, who's involved in these decisions?’ In addition, participants wanted to know more about how the data will be shared and with whom. In reference to the fact sheet summary of the NIH Data Sharing Policy one NUgene participant said, ‘Name names, I thought it was vague.’ Several participants wanted more information on consequences of a breach of protection. One public focus group participant said, ‘I'll tell you what I missed – the consequences, like if this was somehow released in a way that was not covered by any of these policies. What's in place to correct that, to fix it – that's not addressed here.’ Another public focus group participant wanted to know more about penalties: ‘Penalties will be imposed for misuse of the database. Okay, so what is the misuse of the database? What specifically are you saying? And what are the penalties?’
More Information and Education about Genetic Research Needed
Throughout both focus group types, participants spontaneously discussed why more information is needed about genetic research and shared methods they felt would work best to increase public awareness. In the NUgene focus groups, some participants discussed that it is important to provide complete disclosure about genetic research to reduce fears and build trust. One NUgene participant said, ‘… I think that education in general is a really good tool for the layperson to understand what's happening and I just think that that's probably the key, educating away the fears but also disclosing – what are we responsible for? What could happen? It's going to help people trust what you're doing a little more too.’ Another NUgene participant wanted more accurate information on genetic research because of concern about how the media can distort scientific information: ‘I can read this one day and then read something totally different the next day. The media could put something out like your DNA is going to do this, do that, … and you get scared. You don't know.’ In the public focus groups, participants mentioned various reasons for wanting more education about genetic research including to learn more about research progress, to become more comfortable with the information, and that they had a right to know what is going on in this area. One public focus group participant stated, ‘I believe there's a lot of things that's going on that maybe we just don't know about. You know, … groups like this (focus groups), … reminding me a little bit about what more is going on. If they let the public know, like with cancer research … getting that data out there, the information out there to the public, letting them know.’ Another public focus group participant said, ‘You're telling people information you know, to where it helps. It helps relax your mind to where you feel more comfortable with what you're receiving.’
Both group types discussed ways in which they thought public awareness about genetic research could be raised. In the NUgene focus groups, specific education strategies discussed included targeting various groups such as perceived disengaged groups (low-income, minority groups), young people, schools, neighborhoods, and disease support groups. Another suggestion was to target communities where a particular genetic condition occurs more frequently than in the general population. One NUgene participant said, ‘If you wanted to target more culture to culture, I know that asthma incidence is really high in the Hispanic and black communities and there's some new genetic markers for asthma. So you would say, “Oh, you know, you can help out. We've found things for asthma”, … because that is more likely to hit home, you know, and be relevant where it might not be for other populations.’Although the media had been generally discussed as a poor, yet common, source of accurate information about genetic research, the nightly news was reported by one public focus group participant as a good method of reaching people. Other suggested methods of education included the internet, conducting interviews and focus groups with specific disease groups and communities, and educating family members – a primary source for health-related information. More discussion occurred in one of the public focus groups about the need for separate education approaches for diverse communities, respecting beliefs, and that it might be ‘taboo to talk about some of that stuff’. A number of participants indicated that the focus group experience itself was a helpful educational experience. An interest was expressed by some participants to meet again and one public focus group participant said, ‘I think there should be more than this meeting. I found this very stimulating.’