Abstract
This study explores perceptions and preferences on receiving genetic risk information about hereditary cancer risk in members of the Swedish public. We conducted qualitative content analysis of five focus group discussions with participants (n = 18) aged between 24 and 71 years, recruited from various social contexts. Two prominent phenomena surfaced around the interplay between the three stakeholders involved in risk disclosure: the individual, healthcare, and the relative at risk. First, there is a genuine will to share risk information that can benefit others, even if this is difficult and causes discomfort. Second, when the duty to inform becomes overwhelming, compromises are made, such as limiting one’s own responsibility of disclosure or projecting the main responsibility onto another party. In conclusion, our results reveal a discrepancy between public expectations and the actual services offered by clinical genetics. These expectations paired with desire for a more personalized process and shared decision-making highlight a missing link in today’s risk communication and suggest a need for developed clinical routines with stronger healthcare–patient collaboration. Future research needs to investigate the views of genetic professionals on how to address these expectations to co-create a transparent risk disclosure process which can realize the full potential of personalized prevention.
Highlights
The understanding of hereditary cancer susceptibility genes has opened new opportunities for personalized cancer prevention and control through tailored screening programs, frequent monitoring and risk reducing surgeries [1,2,3]
We focused on how unaffected individuals view current clinical practice, how they would like to be approached or contacted about a potential hereditary cancer risk and how these insights could lead to meaningful improvement of current cancer genetic care
The participants did not have any previous experiences of genetic counselling
Summary
The understanding of hereditary cancer susceptibility genes has opened new opportunities for personalized cancer prevention and control through tailored screening programs, frequent monitoring and risk reducing surgeries [1,2,3]. The cost-effectiveness of such targeted screening for hereditary cancer is well established, but outcomes are dependent on the number of relatives reached for each tested index case—the first person in the family in whom a genetic risk is confirmed clinically [7,8]. In Sweden and most other countries the standard practice for informing at-risk relatives is the family-mediated approach, where the index case is relied upon to pass on risk information to relatives [9,10]. This approach is not very effective, as research shows only around one-third to a half of those at-risk are successfully informed about a potential genetic risk [11]. Factors impeding family-mediated disclosure include family conflicts, worry about upsetting others, selective informing, misunderstandings and forgetfulness [12,13,14]
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