Making sense of genetic risk: A qualitative focus-group study of healthy participants in genomic research

Highlights

• The likelihood of the disease is not always informative for research participants.

• Research participants tend to understand genetic risk as a binary concept.

• Participants make sense of risk in the midst of their lives, which unfold in time.

• Risk communication may be enhanced by tailoring the communication to the participants’ own lay conceptions.

Abstract

Objective

It is well known that research participants want to receive genetic risk information that is about high risks, serious diseases and potential preventive measures. The aim of this study was to explore, by qualitative means, something less well known: how do healthy research participants themselves make sense of genetic risk information?

Method

A phenomenographic approach was chosen to explore research participants’ understanding and assessment of genetic risk. We conducted four focus-group (N = 16) interviews with participants in a research programme designed to identify biomarkers for cardiopulmonary disease.

Results

Among the research participants, we found four ways of understanding genetic risk: as a binary concept, as an explanation, as revealing who I am (knowledge of oneself) and as affecting life ahead.

Conclusion

Research participants tend to understand genetic risk as a binary concept. This does not necessarily imply a misunderstanding of, or an irrational approach to, genetic risk. Rather, it may have a heuristic function in decision-making.

Practical implications

Risk communication may be enhanced by tailoring the communication to the participants’ own lay conceptions. For example, researchers and counselors should address risk in binary terms, maybe looking out for how individual participants search for threshold figures.

Introduction

New technologies in the field of genomics, such as next-generation sequencing (NGS), enable a vast number of biomarkers to be measured easily with simple blood samples. By looking at patterns of change in the genome, and in relation to people’s lifestyles and viral infections, extensive ‘omics’ analysis is helpful for investigating disease progression [1]. Exploration of these disease mechanisms helps scientists to identify new biomarkers that allow identification of high-risk individuals more precisely and at an earlier stage, all of which may contribute to improving health and saving lives [2].

These genomic technologies are advancing rapidly, costs of testing are declining and analysis of results is becoming faster [3]. Genomic testing is expected to become more common in research (as well as in clinical practice). High-throughput investigation of this kind generates large quantities of data, some of which involve potentially unexpected genetic risk information that goes beyond the scope of the original research aims. This development opens up a new pathway into health care. As a result of having received genetic risk information, healthy research participants may approach health care seeking genetic counselling. There is therefore a need to understand more about how this potential patient group understands genetic risk.

Several studies have investigated whether research participants wish to be informed about genetic risk. These studies indicate that the overwhelming majority of individuals participating in research, and of members of the public, want to receive information about individual genetic findings. Respondents emphasize the desirability of information that a) indicates a high risk of developing disease, b) concerns serious diseases and c) can be acted upon [4], [5], [6], [7], [8]. Since such characteristics (high risk, disease severity and actionability) vary between different incidental findings, the desire to get feedback about results is expected to depend on the research context. In one study, willingness to receive information about a grave but preventable condition with a 90% probability of incidence decreased from approximately 96% to 62% when the risk of incidence fell to 1% [6].

The characteristics of genetic information that research participants value the most are thus reasonably well known. How well research participants or patients can recall genetic risk information and whether they understand the probability notion of genetic risk have also been studied [8], [9], [10]. It has been pointed out that people in general have a limited capacity for grasping and assimilating the notion of risk in terms of the probability of an undesired event [11], [12], [13]. Also, research has emphasized that participants may have their own lay understandings of genetic risk that diverge from scientific notions related to numeric probabilities [14], [15] and that their perception may be shaped by their own life situations, such as their experience of disease [16], [17], their attitudes and beliefs, and their psycho-social situations [18], [19]. However, less is known about their own ways of conceptualizing genetic risk. As a complement to studies that investigate how well people understand and recall genetic risk in the probabilistic sense, and to studies on psycho-social consequences of genetic risk information, we therefore want to explore how participants themselves make sense of genetic risk. In this study, our aim is to investigate what genetic risk information means for the individual, i.e. how they make sense of the information within their own lives. For this reason a phenomenographic methodological approach was selected.