Preferences for feedback of findings
In this study we found that most participants wanted to receive individual genetic results across all four of Holms and colleagues’s categories, regardless of severity, actionability and preventability. Only a few participants expressed uncertainty or a desire not to receive results and indicated their concern that receiving results may cause anxiety, particularly if the results were not medically actionable. Reasons for participants preferences are presented below.
REASONS FOR WANTING FEEDBACK
Empowerment and Emancipation
The overarching insight emerging during the dFGDs is that participants wanted to receive individual genetic results for a range of reasons, including “peace of mind”, because receiving results would allow for an “ability to share findings with family and close people”, to “reduce self-blame”, to “preparing oneself financially and emotionally” and to “resolve uncertainty or self-blame”. All participants spoke about the value of receiving health information from genomics research. For example,
“I feel information is power. The more information you have and even if you don’t have the condition but the information you have might be able to help someone else…” (DFGD 4: Mixed ancestry parent)
Genetic risk information was generally seen as valuable for the parents themselves, their current children, potential future children and future generations. There was great value placed on sharing genetic risk information with family members in order for them to ‘be alert’ of any symptoms that may arise which are related to the condition they may be at increased risk of developing. See,
“Another thing, those results are very important. If there is a gene that they picked up, maybe in me or the child, which means that someone in the family can have that autism. Or if it could skip a generation, just keep the family alert, something like this could happen again. So, that is important.” (P.1 DFGD 3: Xhosa parent)
In addition to the family being aware of the possibility for disease onset, some Xhosa participants expressed that knowing that result would also alleviate any misconceptions of the person being accused in their community of practicing witchcraft due to behaviours resulting from possible later symptoms of a mental condition like Alzheimer’s. More specifically, having that information and sharing it with their family members ahead of time would allow for their family to be in a position to defend them or enlighten those who may be misinformed about the condition. For example,
Interviewer: “What if it is something serious like Alzheimer’s, a condition that you will have in your late years. Now you are going to live all your life anticipating this disease…”
Parent: “I still would like to know so that people may know that there is a chance of me going crazy at age 60. Considering our culture and superstitions as Africans, people might say that I am a witch. So, it’s better to be open about this. People are ignorant, they will say that I practice witchcraft. In a case where one is transparent, at least your family will know your condition.” (DFGD 4: Xhosa parent)
In Xhosa culture, older women above the age of 50 who engage in unusual unexplainable behaviours are often accused of practicing witchcraft. These accusations can have a range of negative consequences for the victim and her family, inducing for instance social isolation, being ostracized or having their houses burnt down by community members (23). It is these anticipated negative experiences which prompted the participant to want their results for increased risk of a mental condition to be known by those around them.
Overall, most participants in this study expressed that they would like to receive genetic risk information because it would empower them with information and emancipate them through having ‘peace of mind’. Furthermore, some participants shared that the information may reduce their self-blame for the onset of the condition. Some highlighted that receiving that information may help them to prepare emotionally and instrumentally by prompting them to invest in insurance policies and savings which could help them financially if/when the disease manifests.
Motivation for healthy lifestyle
Lifestyle choices, regular screening and alternative preventative therapies were the sub-themes which emerged under the overarching theme for motivation for a healthy lifestyle. Many participants framed their reason for wanting individual genetic results returned to be because the results may encourage them to make healthier “lifestyle choices”, go for “regular screening”, and seek “alternative preventative therapies” such as herbal medicine. For instance, one participant said,
“Yes, definitely tell her. You don’t know the lifestyle that the lady is currently living, so if I would give her the results and then maybe she will change her lifestyle”. (DFGD 4: Xhosa parent)
Another participant described how one could lead a healthier lifestyle after receiving genetic risk information. She said,
“Like if you know that in your family, there’s cancer. So, eat differently. There are a lot of foods that causes cancer. Stop eating this food. You can always prevent it, so, ja. Definitely would want to know.” (DFGD 2: Mixed Ancestry parent)
Another participant supported that view and alluded that having their genetic risk information may put them in a position where they can prevent the disease from manifesting or at least improve the prognosis of the disease. She said,
“I agree, I would also want to know. I think the best thing that you can do to, maybe, if you can prevent it, or better your future … Like, if you get it, there are things that you can do to maybe make it not as bad, like he said, you can go for counselling, change your lifestyle etc. So, ja, I would want to know.” (DFDG 2: Mixed Ancestry parent)
A few participants suggested that early knowledge of genetic risk information on conditions that may be considered untreatable through Western medicine may allow them to seek alternative healing or medicines which may help prevent or reduce the symptoms of the disease.
“The same with me. I would rather want to know, that maybe I can try and find alternative healing, or alternative way of medicine.” (DFDG 2: Mixed Ancestry parent)
In addition, some participants also expressed the view that receiving genetic risk information may allow for early Western medicine intervention, such as having a prophylactic mastectomy in the case of an increased risk of developing breast cancer. Overall, most participants talked about wanting to receive individual genetic results in order to encourage and promote a healthier lifestyle which could be preventative or lead to a delayed or less severe disease onset.
REASONS FOR NOT WANTING FEEDBACK
Whilst most participants indicated a strong preference for receiving individual genetic research results, a small number of participants were uncertain or expressed a desire not to know their results. Three participants indicated concerns and anxieties about the return of results. Participants expressed worry that receiving individual genetic results may cause psychological harm for the individual and possibly their family. For example, one participant said,
“Not knowing what to do to remedy the situation, a person could go on stressing unnecessarily.” (DFGD 4: Xhosa parent)
Another participant recalled how receiving a label of depression from her mental health practitioner increased her anxiety. Reflecting on that experience, this participant highlighted that for her, getting the name of a condition, even if it is just an increased risk of getting it and not a diagnosis, would similarly cause overthinking and increase her anxiety. See,
“I will find out eventually, when I get there. For now, I just want to live my life. Like, if he didn’t give the label, I would have still carried on like I did, before I knew… So, my mind works like that. It will just play too much on my mind.” (DFDG 2: Mixed Ancestry parent)
Others were concerned whether results could lead to self-alienation and pessimism. See,
“If not knowing, I would just go on with my life. Because at the end of the day, when you have that actual news, your whole life changes completely... then maybe sometimes people will shut their whole life from the whole world. So, that’s why I’m saying, yes and no. That’s what I think, I’m just going to go with that. Not knowing...” (DFDG 2: Mixed Ancestry parent)
Another two participants changed their views during deliberations to not wanting to know their individual genetic results, they cited not being able to control or prevent everything in life and wanted to “let life take its course”, so it seemed to them, better not to know.
“With or without this research, we are all sitting here. We all have the possibility of getting it. But right now, we could maybe have it in us already. Like, there’s a possibility in us already. So, then why waste our time on all that? Just live. I think now I don’t want to know any more.” (DFDG 2: Mixed Ancestry parent)
Following understanding their preferences we were interested in exploring participants' expectations from researchers for the return of individual genetic results.
Why participants expect results
Participants described three overarching reasons for why they expected researchers to share results, namely because this is a sign of respect, because they have a moral obligation to do so, and because feedback could promote long-term trust between participants and researchers.
Respect and a moral obligation to return results
Many participants emphasised that they consider a return of individual genetic results a demonstration of respect from researchers towards participants. Some even elaborated that it should be considered a moral or ethical obligation for researchers to return individual genetic results which may empower participants. See,
“Yes, I do, because I think ethically, I think it’s the right thing to do. Because if I think, if I have the information, and I can better someone’s life, or something that I can apply that works for me and someone else can learn, why not. You see? So regardless of the long process of going down all those numbers and going back to the root of it, I think you should still make that effort”. (DFDG 2: Mixed Ancestry parent)
A few participants suggested that researchers ought to also assist individuals in getting more information about the condition which they may be predisposed to getting and/or provide recommendations about specific resources which may be helpful for them. For example,
Interviewer: What you are saying is that they should call that person in and give them advice?
Parent: I am saying that the researcher should not stop only with the study, but also to continue looking for ways to help the individual. (DFGD 4: Xhosa parent)
And another,
“…The only thing that was on my mind about the session from last time, was the moral obligation that the researchers or doctors, whoever is sitting with the information has. They should have a moral obligation to let the patients know.” (DFDG 2: Mixed Ancestry parent)
Building Trust
Many participants also alluded that receiving their individual genetic results may build trust between research participants and researchers.
“The NeuroDEV researchers did explain to us, there is a part, like that lady said, it's not like a must for them to let us know… but I think they should use their own initiative at that time, if they find something else and just, you know, not act like a doctor or a researcher, but act like a person and just tell that person.” (DFDG 1: Mixed Ancestry parent)
One participant suggested that in the event that researchers do not share individual results and the individual learns that that information may have allowed them to prevent or reduce the risk of getting the disease, they may end up blaming the researchers which could undermine the trust between researchers and participants. For example,
“As researchers you have to keep such a person in the loop because you will never know at the end if they will blame you or not. They might say that you knew about their condition and did nothing. The blame will be on you as researchers. Let the person be the one that has the responsibility to take action.” (DFGD 4: Xhosa parent)
Another person specified that it would be important for researchers to feedback genetic information that is helpful for the individual. Even if the genetic information is about an untreatable, unpreventable disease, these participants emphasised that researchers should have an obligation to return that information and not doing so could threaten the trust between the two parties.
“Only if they have information that can help you. I think that they should have an obligation then, and also ethically they should do what is right, if they have that information. But if it cannot help you, and there’s nothing that they can do about it, they should still give you that information and let the person decide for themselves. That is what I think.” (DFDG 2: Mixed Ancestry parent)