Table 1 presents the characteristics of the sample. Sixty-one cancer patients (n=29) and members of the public (n=32) participated in the focus groups. They were mostly female (56%). Fifty-one percent were aged over 50 and had a college education. Participants worked in diverse fields.
The right to choose to know or not to know
Quotes related to this section are presented in Table 2. Participants generally agreed that patients should be given the choice to know or not to know genomic SFs, and this, more importantly, when such results concern a serious medical condition (Quote 1). They thought that the option to receive this information, or not, should be offered before prescribing the test, and separately for actionable, non-actionable findings, and VUS (Quote 2). Some participants stated that healthcare professionals had to reveal SFs to their patients, particularly when these findings have implications for children (Quote 3). One participant revealed that she initially thought it was illegal not to share this type of information with patients (Quote 4).
Motivations to know or not to know
Quotes related to participants’ motivations whether to receive genomic SFs or not are provided in Table 3. A detailed report of such motivations and related quotes are presented in Tables 4 and S1. In general, participants who were inclined to receive SFs wanted to make informed decisions regarding their health, that of their family members, their life in general, their career, and reproductive options. They also wanted to raise awareness among their relatives and ensure family support in the event of disease. Participants who did not wish the return of SFs mentioned the potential negative psychological impacts, the absence of treatment for some diseases, and difficulties obtaining adequate health or life insurance coverage.
Hypercholesterolemia: The majority of participants agreed to receive SFs regarding hypercholesterolemia. The main reason was to obtain as much information as possible to decide whether to protect or improve their health through preventive and therapeutic measures (Quote 5). Those who were hesitant considered that a genetic predisposition to hypercholesterolemia was not a priority in the context of progressive cancer, and they would not want to have the additional stress (Quote 6).
Alzheimer’s disease: Most participants wanted to receive SFs revealing a genetic predisposition to Alzheimer's disease. This decision was motivated by the need to know whether there is a familial genetic predisposition to the disease, the ability to warn potentially at-risk family members, ensure their support and understanding. They assumed that knowing their predisposition to this disease might prompt them to take preventive measures, get medical attention, and supportive treatment earlier in the course of the disease. On the other hand, other participants were less inclined to receive SFs related to Alzheimer's disease to avoid having it affect their life negatively (Quote 7).
Wilson’s disease: Most participants also wanted to know whether they were carrying a variant predisposing to Wilson’s disease. Such information would help them make informed decisions regarding reproduction. They believed that this information would help fast-track their children’s care in the case of an unexplained or hard to explain illness. One participant shared her concerns about the risks of not obtaining proper insurance coverage for her children due to a potential predisposition to Wilson’s disease. She reported having herself been denied insurance coverage due to her family history of breast cancer (Quote 8).
Cystic fibrosis: Participants generally agreed to receive SFs concerning cystic fibrosis. They wanted to be in full knowledge of the facts, be psychologically prepared, and make informed reproduction decisions (Quote 9). Such information would also lead them to inquire about whether their children would be able to get insurance coverage. Participants who did not want or were hesitant to know about a cystic fibrosis variant were motivated by the absence of treatment. They did not want to feel overwhelmed as they would already be affected by cancer. They would prefer to keep on living without worrying about being predisposed to another disease.
VUS: Opinions were particularly divided on the return of a VUS. Participants in favor of receiving such a result believed it could serve as a starting point for familial genetic investigations. Some participants said that they preferred to live while being aware of such a variant even though more stressful. Also, not being informed and tagged for a VUS might mean missing a finding that might become relevant in the future (Quote 10). However, those who were not in favor of receiving such information found it too stressful and concerning to live with. The very nature of a VUS (absence of known health consequences or potential therapeutic and preventive strategies) also makes the communication of its existence irrelevant to those participants (Quote 11).
When to disclose SFs?
Some participants expressed the need to be informed about SFs at the same time as the main results of the genomic sequencing are given. For cancer patients, the information received could allow for better cancer treatment planning. Other participants from the public preferred to deal with the cancer first, and SFs disclosed after patient recovery. Several participants also believed that the attending physician should evaluate the patient’s profile and decide whether their age, psychological, emotional, and physical status or disease stage is compatible with genomic SFs communication (Table 5, Quotes 12-14).
Who should disclose SFs?
Participants thought that the prescribing physician, in this study, the oncologist, should communicate genomic SFs to the patients. As oncologists monitor cancer patients during their treatment, participants thought they should refer patients to family physicians or specialists (Table 5, Quotes 15-17). Family physicians were perceived as capable of communicating SFs, particularly for hypercholesterolemia, as they know the patients well, and findings have no impact on the patient’s cancer management (Table 5, Quote 18). According to some participants, family physicians could refer patients to a specialist or be accompanied by one when communicating the results. Nurses and psychologists were considered capable of discussing SFs with patients and supporting them after receiving such findings from physicians. Social workers were also regarded as capable of filling in for physicians. Some participants showed interest in consulting genetic counselors, as they were perceived as well-equipped to answer questions regarding disease risks (Table 5, Quote 19). Several cancer participants shared their own genetic testing experience and explained that it is the geneticist that orders the DNA sampling and announces the results (Table 5, Quote 20). They also thought that these results could be transmitted to the oncologist after being communicated at the genetics clinics. In general, participants thought it essential for healthcare professionals to inform patients about genomic SFs to be knowledgeable about genetic diseases, be a good communicator, show empathy, and have time to discuss (Table 5, Quote 21).
How should SFs be disclosed?
For a vast majority of participants, the best way to deliver SFs is during a face-to-face visit with a healthcare professional. Such a visit would allow patients to ask questions and obtain support and information on prevention and disease risks (Table 5, Quote 22). Some participants wished to be accompanied by a friend or family member during their encounter with healthcare professionals. Such a companion might help the tested individual control his emotions and better understand the result implications (Table 5, Quote 23). Other participants did not want to be accompanied as they viewed such visits as personal. Besides, they did not want to deal with family members' emotions and sadness (Table 5, Quote 24-26). Several participants revealed that they did not mind receiving hypercholesterolemia-related SFs by phone, letter, email, or text message (Table 5, Quote 27). Treatment availability, the relative ease of hypercholesterolemia management, and its benign nature appeared to be the reasons behind this choice.
Informing family members
Participants were divided about sharing genomic SFs with their relatives. Those who were in favor felt that the tested individuals should be the ones to make the decision about communicating their results to their relatives. In cases where there might be a risk to a tested individual’s offspring, these participants wished to inform their partner/spouse and their children (Table 5, Quote 28). Once aware of the risks, the children and other family members could take preventive actions (Table 5, Quote 29). These participants believed that physicians should strongly advise that tested individuals inform their relatives, particularly when the results involve disease risks to descendants. Several participants agreed that physicians could inform relatives but only after obtaining patients’ consent. A pre-written letter inviting family members to genetic counseling and testing was suggested to initiate discussions with relatives about genomic SFs. However, other participants believed that relatives should not be made aware of genomic SFs, especially if they are known to panic easily. One participant said that he felt scared and uncomfortable to share his results with his relatives due to their tendency to panic (Table 5, Quote 30). Additionally, these participants thought that family members should be asked first whether they want to be informed about such findings.
Participants’ support needs
Participants wished that patients be warned about the possibility of genomic SFs before undergoing the test. They wanted guidelines to be elaborated to harmonize the patients’ management and genomic SFs. They were also in favor of laws or policies that would limit access to such findings and would prevent insurance and employment discrimination (Table 5, Quotes 31 & 32). Moreover, participants were interested in receiving information or documentation (pamphlet, booklet) on disease risks and prevention options. They also wished to have access to support groups, be guided towards psychosocial support resources, a dedicated website, or specialist physicians after the return of SFs or when the related disease occurs (Table 5, Quote 33). They recognized that they might also need healthcare professionals' support to inform family members, like organizing a family meeting.