Participants’ characteristics are found in table 1. We present both descriptive and thematic results:
i) a description of the manifest content of participants’ actions and reactions when receiving the letter, and
ii) themes developed when analysing the transcripts with thematic analysis searching for experiences and attitudes.
i) Actions and reactions when receiving the letter
All participants found it easy to understand the letter’s language and content and most found the contact information to be complete. They also found it helpful that the letter contained the relative’s name or a family-related serial number. When the participants received the letter they had varying degrees of prior knowledge about the familial cancer genetics assessment. Many participants had been informed to some degree about the assessment and that a letter was coming.
For some participants the letter arrived without any forewarning. Two of these had a first-degree relative with a cancer diagnosis associated with a hereditary cancer syndrome. One participant found that the letter made sense as she had been thinking about heredity for cancer in the family. Another participant did not have any prior knowledge of cancer in the family and described the letter evoking many questions about her extended family, the risk for cancer, and how the information was presented in the letter. Of those without prior knowledge most but not all contacted a relative for more information.
After receiving the letter many called the clinic within days or a few weeks, but some waited up to a couple of months. Those who immediately responded to the letter explained their action as a result of wanting to ask the counsellor clarifying questions and to provide a blood sample. Those who delayed responding to the letter explained the delay as the result of other life events such as the Covid-19 pandemic, the birth of a child, or caring for an ill parent. A few described that they wanted to contact but that it just didn’t happen which could be interpreted as feelings of resistance, and one participant mentioned feelings of guilt towards the family.
Many expressed a need for genetic counselling before telling their own family members about the letter, some even wanted to know their own test result first. At the time of the interview, about half of the participants had told at least one close relative (a partner, a co-parent, a sibling, or an adult child) about the letter, but they had not necessarily informed all family members in their turn affected by the information. Some did not have a relative who needed disclosure. Two had not disclosed the information at all.
ii) An important message to hold and to handle for oneself and for others
When analysing the interviews regarding the experience of receiving a direct letter and the attitudes toward disclosing hereditary cancer risk, we developed an overarching theme and six subthemes (Figure 1).
The overarching theme -An important message to hold and to handle for oneself and for others- summarizes that the message of hereditary risk and the letter, had to be dealt with. The impact of the very letter itself depended on if and how much the participants were previously informed by their relatives, being informed helped them cope better. The message evoked mixed feelings in the participants and ambivalence between the benefits of accessing risk control but also, to some degree, the drawback of knowledge causing worry. They had to process what the letter or message could mean, or bring, for themselves and also for their children, co-parents or grandchildren. They were thinking and worrying about how and when to pass on the information to their relatives in turn. They also clearly expressed that disclosing is a family matter, however healthcare should support both patients and relatives when necessary.
One might need to kind of, digest it a little bit . . . “How should I think about it? What do I think of it? Do I want to know? How do I want to proceed?” (Male participant, family with HBOC)
It felt important, worrying or even frightening.
Those who had been notified about the letter on forehand expressed that the letter was important but also concerning. Some had been waiting for the letter. Others described it as an unpleasant reminder of what they already knew or that it made them worried about their and their children’s futures:
Even if I knew it [the letter] was coming, it did hurt a little bit when I got it […] it affects you, it does, I’m telling you that. (Male participant, family with HBOC)
When I got the letter, had dad not told me earlier, I wouldn’t have wanted such a letter as it was. (Male participant, family with HBOC)
I think the letter is a good thing. I don’t like getting it, but I think . . . like . . . it’s good . . . like . . . that I got the possibility to know. (Male participant, family with HBOC)
The participants who had not known a letter was coming described feeling confused, worried and even fearful when reading the letter. They described this unsolicited message as difficult to take in and to understand and that the letter raised questions. Two participants did not question the approach of sending a letter but expressed some doubt as they described that their partners questioned the appropriateness of the approach.
I just got the Corona vaccine, a kind of ticket [back to normality] and now I get a letter, a new ticket to an insecure future. (Female participant, family with Lynch syndrome)
I want access and understanding when contacting
Most of the participants pointed out a need for concise information in the letter regarding who and where to call. They expressed that they wanted, expected, or even demanded to have their self-initiated contact call answered promptly. When presenting themselves and their case, they wanted the counsellor to be informed and familiar with genetic assessments, the direct letter, and preferably also their own family. They wanted to have counselling on the phone or schedule an appointment for counselling and genetic testing, as the following notes indicate:
I did think she [my mother’s counsellor] would answer but then it wasn’t her, and then I had to answer the kind of questions I had hoped not to. I wished it would’ve been her who knew my mum [. . .] but it went well. (Female participant, family with HBOC)
Talking to the counsellor was mostly described as positive and reassuring. However, being counselled over the phone directly when contacting the clinic was sometimes described as concerning and overwhelming.
A personal notice from relatives is welcomed and the right thing to do
Participants without prior knowledge spontaneously expressed disappointment or anger with relatives who did not notify them that the letter was coming. The participants who had been informed about the assessment and the letter appreciated the personal notice even if brief and from a more distant relation. It was a general attitude among participants that it was caring or even correct or decent to personally notify relatives about the familial assessment before healthcare-mediated disclosure.
They could’ve called us and told us that [the index relative] is having a [cancer genetic] assessment and that it means that we also will have to do it. It’s a bit. . .I feel a little dis. . . I feel disappointed and slightly angry. For heaven’s sake, we don’t have the best family relations, but when it comes to life or death like this, one thinks that . . . well. . . she has to get a hold of herself. (Female participant, family with HBOC)
Disclosure is a family matter by constitution
All the participants talked about the responsibility of disclosing to relatives as a family matter without reflecting on this point. Some expressed their attitude in a more direct way – e.g., making this information available to relatives is a duty:
One can draw parallels to Covid and vaccine . . . the right to decide for yourself what you want to do and what info to take in and how to live, but there must be some responsibility towards others [relatives and people in general] or at least respect for others . . . one is part of something greater. (Male participant, family with Lynch syndrome)
They expressed concern about their own and their relatives’ risk. They considered the act of disclosing to be something that needed to be well thought out and done in a responsible and caring way. Their own plans for disclosure ranged from rehearsing what they would say, waiting for a family gathering to tell in person, to waiting for their own test results to avoid unnecessary worry. Interestingly, no participant addressed the possibility to ask the cancer genetics clinic to send letters to their relatives in turn.
Healthcare should support the family but also guard the right of the individual
All participants assumed that patients receive support from healthcare professionals during an assessment for hereditary cancer. They thought that patients might need extra support as they may not understand the information or why it is important to disclose. They could also imagine the patient not feeling comfortable approaching relatives, not capable due to their own illness or that they did not want to reveal their own diagnosis. All participants thought healthcare should contact relatives directly if the patient asked for help or if there was a concern that disclosing might not take place:
Healthcare must take responsibility and reach closure even if the patient who started the assessment isn’t coping, healthcare has to support and reach closure. (Male participant, family with HBOC )
. . . but it’s not that person’s own business anymore if it’s something that can be passed on in the family. (Female participant, family with Lynch syndrome)
Some stated that a patient should not have the right to withhold genetic information from biological relatives. However one participant mentioned wanting the right to have sufficient time to inform relatives himself before healthcare did. Another participant suggested that knowing a letter was on its way would be a reminder to the patient to notify distant relatives.
An unsolicited letter can safeguard autonomy but may also do harm
The participants thought that healthcare should send direct letter to relatives to safeguard the individual’s autonomy and agency. These at-risk relatives believed they had the right to know about their risk. That is, if a counsellor understands that the patient might fail to inform, a letter was an appropriate measure to take. In general, these participants trusted healthcare and perceived targeted prevention programs to be beneficial.
However, some participants expressed ambivalence towards direct contact, the role of healthcare in society, and the effect of targeted prevention programs. They expressed concern that direct contact might be seen as offensive or a breach of privacy and that surveillance might impair one’s perception of being or feeling healthy. In addition, they expressed concern that prevention programs cannot prevent cancer but only offer early detection and that such a program introduces a risk of overdiagnosing. Some reflected on the fundamental uncertainty of life and the illusion of having control.
I feel lika a fairly stable person but [. . .] a person who [. . .] maybe has a depression or something, getting a letter like this can be terrible. Also what you don’t know you cannot control but you don’t have to worry about it either. (Female participant, family with Lynch syndrome)
Both those with and without prior knowledge of risk when they received the letter, commented on the possible negative impact of the unsolicited risk disclosure. If a person who received a letter was in a difficult life situation or had limited resources to handle the message, it could be misinterpreted or overinterpreted and therefore could do harm. One participant commented on an adult sibling needing emotional support from family after being informed. Some noted that some people who receive this kind of letter could choose to not make contact, so there had to be a plan and resources to follow-up on those who receive a notification letter.