The Experience of Receiving a Letter from a Cancer Genetics Clinic About Risk for Hereditary Cancer

We invited 15 at-risk relatives, one of whom accepted the invitation but did not answer the calls from the first author, and 14 of whom ultimately were interviewed. Participant characteristics are given in Table 1. Below, we present the results of the analysis in two sections. The first section, “Actions and reactions when receiving the letter”, presents a description of the situation that arose when the participants received the letter and their actions and reactions to this situation. The second section, “An important message to hold and to handle for oneself and for others”, presents an overarching theme and related subthemes from the thematic analysis of participants’ experiences and attitudes towards the letter and its message.

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. All letters contained a family-related serial number, which was perceived as helpful. One letter also contained the patient’s name, at the request of the patient. Participants reported having varying degrees of prior knowledge about familial cancer genetics assessment at the time they received the letter. 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 notice. Two participants 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 cancer heredity in the family. Another participant did not have any prior knowledge about cancer in the family and described the letter as evoking many questions about her extended family, 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 participants 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 arising from wanting to ask the counsellor questions and wanting to take the blood test. Those who waited explained the delay as due to the being occupied with other priorities, such as the Covid-19 pandemic, the birth of a child, or caring for an ill parent. A few said that they had wanted to make contact but just had not gotten around to it, and one participant mentioned feeling guilty towards family. Many expressed a need for genetic counselling before telling their own family members about the letter, and some even wanted to know their own test result first. At the time of being interviewed, about half of the participants had told at least one close relative (a partner, co-parent, sibling, or adult child) about the letter, but not necessarily all family members who could be affected by the information. Some did not have a relative who needed disclosure. Two had not disclosed the information to anyone.

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 attitudes toward disclosing hereditary cancer risk, we developed an overarching theme and six subthemes (Fig. 1). The overarching theme was “an important message to hold and to handle for oneself and for others”. It summarises that the message of hereditary risk and the letter had to be dealt with. The impact of the letter itself depended on whether and how much the participants were previously informed by their relatives, and being informed helped them cope better. The message evoked mixed feelings and ambivalence around the benefits of accessing risk control and the drawback of knowledge causing worry. They had to process what the message meant, or could mean, for themselves and for their children, co-parents, or grandchildren. All of them 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 but that 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?” (Participant no 5, female, family with Lynch syndrome)

It felt important, worrying, or even frightening

Those who had been notified about the letter beforehand expressed that the letter was important but concerning. Many wanted the knowledge regardless of if they would take action, and many wanted the possibility to access risk control through control programs. Some had been waiting for the letter. Some described it as an unpleasant reminder of what they already knew or that it made them worried about their and their children’s futures:

When I got the letter, had dad not told me earlier, I wouldn’t have wanted such a letter as it was. (Participant 3, male, family with HBOC)

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. (Participant 4, male, 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, evoking questions about the family history leading to a genetic assessment, the assessment itself, and the possible physical and psychological impact of risk and risk handling for themselves or their close ones.

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. (Participant 2, female, family with Lynch syndrome)

No one openly questioned the approach of sending letters, but two participants commented on others they knew questioning the appropriateness of the approach.

I want access and understanding when contacting healthcare

Most of the participants commented on positive experiences with finding concise information in the letter regarding whom and where to call. They expressed that they wanted, expected, or even demanded to have their self-initiated contact call to the clinic answered promptly. When presenting themselves and their case, they wanted the counsellor to be informed and familiar with genetic assessments, the letter, and preferably also their own family. They wanted to have counselling on the phone or to schedule an appointment for counselling and genetic testing. Talking to the counsellor was mostly described as positive and reassuring, however occasionally described as concerning and overwhelming.

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. (Participant 1, female, family with HBOC)

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 prior communication from relatives even if it was brief and from a more distant relation. A general attitude among participants was 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 patient/proband] 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. (Participant 14, female, family with HBOC)

Disclosure is a family matter

All participants talked about the responsibility of disclosing to relatives as a family matter without reflecting further. Some expressed their attitude in a more direct way, commenting that making information available to relatives is a duty:

One can draw parallels to Covid and vaccines … 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. (Participant 9, male, family with Lynch syndrome)

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 to waiting for a family gathering to tell people in person to waiting for their own test results to avoid causing relatives worry. Interestingly, no participant remarked on the possibility of asking the cancer genetics clinic to send letters to their relatives in turn.

Healthcare should support the family but guard the right of the individual

All participants assumed that patients receive support from healthcare professionals around disclosing the results from the genetic assessment. Many thought that patients might need extra support because they might not understand the information or why it is important to disclose. Participants also could imagine the patient not feeling comfortable approaching relatives, not being able to do so because of illness, or not wanting 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. (Participant 7, male, 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. (Participant 6, female, 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 personally 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 do harm

The participants thought that healthcare should send a direct letter if necessary to relatives to safeguard their autonomy and agency. These at-risk relatives believed they had the right to know about their risk and that if a counsellor understood that the patient might fail to inform, a letter would be an appropriate measure to take. In general, these participants trusted healthcare and perceived targeted prevention programs as beneficial. Nevertheless, some participants expressed ambivalence about direct contact, the role of healthcare in society, and the effect of targeted prevention programs. There were concerns that direct contact might be seen as offensive or a breach of privacy. In addition, some expressed concern that prevention programs cannot prevent cancer and only offer early detection, and one participant mentioned that such a program introduces a risk of overdiagnosing. Some reflected on the fundamental uncertainty of life and the illusion of having control. 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 and do harm.

I feel like 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. (Participant 5, female, family with Lynch syndrome)

One participant commented on an adult sibling needing emotional support from family after being informed and that healthcare has to have a plan for follow-up of those who do not respond to a direct letter.