Participant characteristics

Table 2 summarizes participants’ demographic characteristics. The majority of probands and family members identified as female (n = 25; 78.1% and n = 64; 67.4%, respectively), Caucasian (n = 30; 93.8% and n = 90; 94.7%, respectively), and married (n = 25; 78.1% and n = 70; 73.7%, respectively). Most probands were over the age of 40 (n = 28; 87.5%), while about half (n = 51; 53.7%) of family members were over the age of 40. Almost all (n = 29; 90.6%) probands had been diagnosed with cancer, while the minority (n = 22; 23.2%) of family members had received a prior cancer diagnosis. Of the 127 participants, the majority (n = 81; 63.8%) came from a family with a pathogenic mutation in the genes MLH1 or MSH2. Nearly all family member participants (n = 86; 90.5%) had pursued genetic testing for Lynch Syndrome. A majority (n = 56; 59.0%) received a positive test result, (n = 30; 31.6%) received a negative test result, and the remaining (n = 9; 9.5%) had not pursued genetic testing at the time of the interview.

Table 2 Participant CharacteristicsLynch syndrome diagnosis and ongoing management and surveillance

The vast majority of probands (n = 32; 96.9%) and family members (n = 73; 76.8%) reported discussing the Lynch Syndrome diagnosis in the family with a healthcare provider. The majority of probands (n = 36; 83.9%) and about half of family members (n = 36; 49.3%) discussed the diagnosis with a specialty physician. About half of the probands (n = 16; 51.6%) discussed their Lynch Syndrome diagnosis during a routine appointment, whereas the majority (n = 45; 64.3%) of family members discussed the diagnosis during an appointment specific to their Lynch Syndrome diagnosis.

All probands (n = 32; 100%) reported having received a recommendation for clinical follow-up, such as cancer screenings or surgical procedures. Almost all (n = 55; 98.2%) family members who tested positive received a recommendation for clinical follow-up. Most (n = 22; 73.3%) of family members who tested negative did not receive a recommendation for clinical follow-up. We found that a specialty physician was the most common type of provider to make clinical follow-up recommendations for both probands and family members (n = 60; 52.6%), followed by genetic counselors (n = 42; 36.8%) and PCPs (n = 6; 5.2%).

Participants reported what screenings they had received since their Lynch Syndrome diagnosis or since receiving their genetic test results. Overall, 96.8% (n = 31) of probands and 87.5% (n = 49) of family members who had a positive test result reported completing one or more recommended screenings (see Table 3). Approximately 4% of family members who tested positive (n = 2) reported that no screenings had been recommended and so they had not taken any action. In addition, 12.5% of family members who tested positive (n = 7) reported having not received any recommended screening despite having received a recommendation for screening. A higher percentage of probands than family members who tested positive for the familial variant reported receiving key screenings, including colonoscopy (n = 28, 87.5%; n = 43, 76.8% respectively). Interestingly, probands were also more likely (n = 6, 19.4%) to report receiving general population screening such as mammograms than family members who tested positive (n = 4, 8.2%). Participants who tested positive were also asked to identify surgical interventions they had received. Some female probands reported having had a hysterectomy (n = 9; 28.1%) or oophorectomy (n = 5; 15.6%), and some female family members who tested positive reported having had a hysterectomy (n = 12; 14.1%) or oophorectomy (n = 8; 9.4%). In addition, two family members (3.6%) and no probands reported having had a colectomy. However, we did not collect information about the reason for the colectomy.

Table 3 Screenings Completed by Participants with Lynch Syndrome who Received a Recommendation for ScreeningFacilitators and barriers to clinical follow-up for lynch syndrome

The most commonly reported facilitators to probands receiving screenings included being sent a reminder (n = 6; 19.4%) and the ease of making an appointment (n = 6; 19.4%). For example, a proband participant stated, “I got a reminder in the mail, plus looking at MyChart that said I’m overdue for colonoscopy.” The most commonly reported facilitators to family members receiving screenings included having insurance coverage (n = 16; 21.3%), having screening appointment scheduling facilitated by clinic staff (n = 10; 13.3%), and the ease of making an appointment (n = 8; 10.7%). For instance, a family member shared, “I had a reminder from my doctor and that made it easy. And they were accommodating and easy to schedule.”

Issues with insurance was the most commonly-reported barrier to receiving screenings for both probands (n = 12; 37.5%) and family members (n = 19; 20.0%). When discussing barriers to receiving screenings in the semi-structured interviews, one proband stated, “You have to fight the insurance company because they say you can’t be screened this often.” A family member also expressed having difficulties with insurance: “I haven’t had [a screening] yet because my insurance doesn’t cover it because I’m under 50. We don’t have money to pay and that was definitely a huge challenge. But I will begin having them when I’m 50 and my insurance begins covering it.” Family members reported other barriers to receiving screenings including the emotional burden, the difficulty of preparing for screening procedures, their doctors, particularly PCPs, not knowing about Lynch Syndrome causing participants to feel that their care was not being prioritized. In the semi-structured interviews one family member stated, “Just medical professionals don’t know much about Lynch [Syndrome] so receiving help is difficult because they don’t treat it as anything urgent.”

One theme that emerged from the semi-structured interviews was the experiences of both probands and family members with PCPs who had limited knowledge about Lynch Syndrome. For example, one proband stated, “I was not able to talk with my primary care physician because he does not really know anything about Lynch Syndrome.” Another proband expressed a desire for more doctors to know about Lynch Syndrome: “I wish more doctors would know about it and be more proactive with patients.” Family members who were interviewed expressed similar experiences with providers who had limited knowledge. One family member said, “Only if the PCP knew about Lynch [Syndrome]. My PCP needed me to tell them about it.” Another family member’s doctor needed to search for Lynch Syndrome online: “And he didn’t know a lot about Lynch Syndrome he had to look it up online.” Another family member decided to go to a specialist instead of their PCP due to the PCP’s lack of knowledge around Lynch Syndrome: “I talked with an oncologist who is very familiar with Lynch Syndrome. I made a colonoscopy appointment. He wasn’t up to date on it but I gave him some information. He is, however, the first doctor that I’ve talked to who knows what Lynch Syndrome is. My regular physician didn’t know anything really up to date on Lynch Syndrome at all. So, I go to this other doctor for that.”

Education and information regarding lynch syndrome

Probands and family members were asked about their satisfaction with the amount of information they received from their provider about Lynch Syndrome. The majority of probands (n = 28; 87.5%) and family members (n = 70; 81.4%) reported being satisfied with the amount of information they received. When asked why they were satisfied, probands (n = 9; 33.3%) and family members (n = 19; 27.1%) indicated they felt they understood Lynch Syndrome. Many reported doing their own research on Lynch Syndrome (e.g., on the Internet) and knowing where to find the information for which they were looking. One proband stated, “I feel like I understand everything that is going on and what I need to do. I have a good grasp. I’ve talked to numerous doctors and received different perspectives.” Similarly, a family member said, “Yes, [I’m satisfied with the amount of information I’ve received]. I don’t feel like I need to be an expert but I feel like I was properly educated about it. I know what it is and what the risks are of having it and what I would have to do if I had it. It has been good.” Of the probands (n = 4; 12.5%) and family members (n = 16; 18.6%) who indicated they were not satisfied with the amount of information they received about Lynch Syndrome, many reported that there was not enough information available about Lynch Syndrome, they wanted more information, and they were not sure what information was accurate and inaccurate.

Participants were asked about what ways would be the most helpful for them to continue learning about Lynch Syndrome. Probands and family members indicated that the following ways would be the most helpful in learning about Lynch Syndrome in the future: discussing new developments with their PCP as part of an annual check-up (n = 6, 20.7%; n = 26, 30.2%), access to a clinic specializing in caring for people with Lynch Syndrome (n = 6, 20.7%; n = 13, 15.1%), and general websites about Lynch Syndrome to use when they had questions (n = 7, 24.1%; n = 16, 18.6%). One proband who expressed that websites would be the most helpful stated, “I find websites are a good start and you can go from there to other information”. Similarly, one family member stated, “An absolute webpage with everything on there based on Lynch Syndrome [would be the most helpful for my family learning about Lynch Syndrome].” One proband who felt access to a specialty clinic would be most helpful said, “Access to a specialist [would be] very helpful because I’ve educated a lot of my physicians like my family medicine doctor.” One family member expressed that access to a specialty clinic would make them more confident in their care: “I would trust a specialty clinic because I would know they know what they are talking about. It would make me confident in care.”

In the interviews, both probands and family members reported that social media and support groups would not be helpful for them and their families in terms of receiving future information and updates on Lynch Syndrome. One proband stated, “I don’t see [social media] as something I would feel comfortable using for that information.” One family member said, “I wouldn’t go to social media to talk about Lynch Syndrome.” When asked about support groups, one proband said, “Support group, not for our family.” One family member said, “A support group [would be the least helpful]. I feel that I wouldn’t want to sit and talk to people about it, I would rather talk to doctors.”