Participant description

We completed 75 interviews across the eight healthcare systems, with ten at most sites (range 6–11). Interviewers contacted 282 individuals; 138 were unreachable after multiple attempts, 64 actively declined participation, and five scheduled an interview and later declined. Table 1 describes the characteristics of interview participants. More than half (52%; 39/75) were men, and the mean age was 60 years. Most had private insurance (93%; 70/75), and one-third (36%; 27/75) reported having a child seen by the same healthcare system. The majority were white (79%; 59/75) and married or living with a partner (72%; 54/75). While only 17% (13/75) self-reported a personal cancer diagnosis prior to their current CRC, more than half (56%; 42/75) self-reported a family history of any cancer. Most participants indicated adequate health literacy, with 88% (66/75) rating their confidence in filling out forms as quite a bit or extremely confident. Further, 63% (47/75) preferred numbers over words when receiving an explanation of the chance of something occurring. Finally, 60% (45/75) self-reported no knowledge or awareness of LS prior to our interviews. The 40% (30/75) who were aware of LS typically had minimal knowledge.

Table 1 Participant descriptive characteristics (N = 75)

“I don’t know anything about genes that could raise the risk of cancer…Today is the first day I’ve heard about Lynch Syndrome, so I don’t think that they’ve [healthcare system] ever done anything on it.” – Site7 patient.

“I did know about Lynch Syndrome because a friend of mine had just had colon cancer and she said she had Lynch Syndrome.” – Site8 patient.

We divide our results into the following areas, highlighting motivations and concerns within each: (1) initial reactions to the idea of learning about one’s LS status; and (2) reactions to the steps in UTS for LS, including tumor screening and follow up confirmatory genetic testing. Table 2 summarizes patient motivations and Table 3 summarizes patient concerns. Both tables display the level of patient endorsement (%/n) of a motivation or concern at the three stages of initial reaction, tumor screening, and confirmatory genetic testing. Finally, we identify patient communication preferences and overall advice for healthcare systems to consider when implementing a UTS program (Fig. 1).

Table 2 Summary of motivations at different stages for learning lynch syndrome status (N = 75; Bolded % indicates most common endorsements)Table 3 Summary of concerns at different stages for learning lynch syndrome status (N = 75; Bolded % indicates most common endorsements)Fig. 1

Patient suggestions and potential implications for healthcare systems regarding screening for lynch syndrome

Initial reactions

After providing a brief lay-person description of LS, we assessed initial reasons why participants might want to learn about their LS status. Four consistent and primary motivations arose: (1) to inform blood relatives for their own health (“family knowledge” − 68%; 51/75); (2) to know and want as much health information as possible (“knowledge is power” − 67%; 50/75); (3) to prevent and detect future cancers (“prevention and detection” − 64%; 48/75); and (4) to potentially inform treatment decisions and cancer surveillance actions (“treatment and surveillance” − 55%; 41/75). Participants representing all eight healthcare systems identified these reasons with most noting multiple motivations.

“I think it’s important to know. I would want to know for my kids’ sake so they could get tested and be prepared to deal with things that may come their way.” – Site5 patient.

“For me it’s really related to making sure I am being monitored in the right way. And it seems like a diagnosis of Lynch Syndrome very much changes the way and the frequency with which you’re monitored for a variety of different cancers - I would find it very important to know that.” – Site4 patient.

When reflecting on reasons to generally not learn one’s LS status, most participants (64%; 48/75) stated there were “no reasons” or concerns to forego learning or knowing this information.

“There’s no reason why I wouldn’t want to know…because if you know it you’re more likely to follow-up on all the tests you need to have. So, I think it’s good to know.”– Site7 patient.

Some participants identified minor concerns about potentially learning their LS status. The possibility of generating needless “worry or anxiety” was a concern for about one-third of participants across all eight systems (35%; 26/75). Less frequently mentioned concerns at this time point included: perceived as “unnecessary information” given age or cancer diagnosis (8%; 6/75); if knowing LS status “did not gain anything medically actionable” (5%; 4/75); if it created “cost challenges” (4%; 3/75); if it negatively “impacted health insurance coverage” (4%; 3/75), or generated “privacy concerns” (4%; 3/75).

“This could be another thing to add to the fire of anxiety. If there’s no treatment for it, then what good is it.” – Site5 patient.

“I don’t feel that it’s even urgent for me. After all I’m eighty-two years old.” – Site1 patient.

“You know, [if] all of a sudden, I’m not able to get certain kinds of insurance, I get labeled a certain thing from a medical perspective…that is concerning.” – Site3 patient.

Reactions to screening steps

Participants next reflected on possible motivations and barriers to common process steps in UTS programs: (1) tumor screening, typically performed automatically by the healthcare system and does not require patient-level decision-making; and (2) confirmatory germline genetic testing, which requires the patient to decide whether to follow up to confirm the diagnosis of LS. Although both steps impact the patient, how each step is completed is different. Thus, it was important to capture perspectives on each step separately to determine whether patients understand and value the information gained at each step and the role they and their healthcare system have in this process.

Step 1: Tumor screening. Participants across all systems identified the same four primary motivations for wanting their CRC tumor biopsied and screened for LS as they did for generally wanting to learn their LS status, including: “knowledge is power” (63%; 47/75); “prevention and detection” (56%; 42/75); “treatment and surveillance” (49%; 37/75); and “family knowledge” (41%; 31/75). Participants identified additional reasons, including believing it to be “helpful to future research and patients” (11%; 8/75); and that it may help “explain personal or family history of cancer” (5%; 4/75).

“Being able to have that test and knowing whether or not I have Lynch Syndrome, it’s valuable because if I did know, I could prepare myself more.” – Site2 patient.

“Just to protect myself for the rest of my life. And also, to just keep my boys on top of things and as they get older, make sure that they’re doing the right thing.” – Site8 patient.

Similar to generally wanting to know their LS status, 61% of participants (46/75) stated there would be “no reasons” or meaningful barriers to wanting tumor screening performed. However, a few concerns were identified. The possibility of negatively “impacting health insurance coverage” (19%; 14/75) and “cost challenges” (9%; 7/75) both came up slightly more often when reflecting on the tumor screening step. A new concern emerged for a small set of participants (12%; 9/75) regarding whether “patient informed choice” would be offered and these individuals suggesting shared decision-making be considered at this tumor screening step. Thoughts about generating “worry and anxiety” (9%; 7/75), “privacy concerns” (3%; 2/75), and “unnecessary information” due to older age (3%; 2/75) came up less as concerns when considering the tumor screening step.

“It’s very important to know -I don’t have any problem with the tumor being tested.” – Site4 patient.

“The only thing that would hurt me would be like for insurance purpose - if it was held against you at a later time…because if it’s genetic there’s nothing you can do about it.”– Site6 patient.

“You know, having some choice [shared-decision-making] is always good.” – Site3 patient.

Step 2: Confirmatory genetic test. Participants next reflected on following through with obtaining a genetic test. Motivations to have the genetic test mirrored the same four reasons for tumor screening and general knowledge of LS status across participants from all eight systems, including: “knowledge is power” (96%; 72/75); “family knowledge” (61%; 46/75); “prevention and detection” (56%; 42/75); and “treatment and surveillance” (53%; 40/75).

“I’m willing to do that [second step], whatever I need to do…I want to know. And I have children and grandchildren and siblings that I would like them all to be aware.” – Site7 patient.

Two new motivations emerged from participants reflecting on this stage of confirmatory genetic testing, including having a “provider recommendation” (16%; 12/75) and a desire to seek out additional “research and information” on the topic (9%; 7/75). A few noted they would be motivated by the possibility that it could be “helpful to future research and patients” (5%; 4/75).

“I’d likely have it done… And I’d ask my doctors, ‘what’s the best thing we could do?’ - whatever [surgeon] tells me I will listen because it’s the best not only for me, it’s best for my kids.” – Site2 patient.

Regarding the possibility of having to make and “attend an additional appointment” to obtain the confirmatory genetic test, 87% (65/75) of participants representing all sites did not perceive that as a barrier. Additionally, most participants (88%; 66/75) had no concerns about “privacy or documentation” of the genetic test finding in their medical record. 41% of participants (31/75) stated there would be “no reason” to forgo the confirmatory genetic test.

“It sounds like a great idea. And it’s a simple one [for attending additional appointment]. I mean it is not invasive. It’s just taking blood… I need to know one way or the other.” – Site4 patient.

“I think it should be in the medical records – everything is on the computer; everything is right there. It’s an important thing…to have everything on file in one location.” – Site1 patient.

When concerns were noted by participants, possible “cost challenges” emerged as the most common for step 2 of confirmatory genetic testing. While 21% (16/75) had no concerns regarding potential costs deterring follow through, 79% (59/75) expressed cost questions or concerns. Of these 59 participants, 68% (40/59) stated knowing the cost upfront would be important for planning, but would likely not deter follow through with the genetic test, given they view it as necessary to their health and describe themselves as having “good insurance.” Due to their recent cancer care and treatment experiences, these participants described the importance of proactively understanding medical costs, given that recommended tests and procedures can be expensive and are not always covered well by health insurance. These 40 participants believed knowing upfront whether the cost would be “prohibitively expensive” (e.g., $5000), would be important to both financial planning and the timing of when to complete the confirmatory test in terms of meeting insurance deductibles and authorizations.

“Cost is always out there. But some things are important…I don’t really want to pay for a $2,000 blood draw, but if it’s reasonable [and] this is prevention…Our health plan is rather good, but we have to get authorizations, I would think that they would approve it.” – Site2 patient.

“If it’s going to be a $10,000 test out-of-pocket, then that becomes a practical question. The CAT Scan [for cancer care] was about $1,700, but that was part of my deductible. And I actually didn’t ask before what the cost was. But in that context, I want to be aware of both the deductible and max out of pocket in advance – [it’s] a question one needs to ask.” – Site3 patient.

For the remaining 19 of 59 (32%) participants, the potential cost of the genetic test could be a reason to decline it due to their current financial or health insurance status. Most of these participants described how their recent cancer treatment had drained their finances, with some still paying for their cancer care. Additionally, some of the 19 described being on a fixed income or experiencing a drop in their income level (i.e., job loss, retirement) that would make paying out of pocket burdensome. Others described their current insurance as a possible barrier for covering the cost of genetic testing, such as being on a high-deductible plan or concern that Medicare may not cover the genetic test. For all these reasons, these 19 participants stated any genetic testing costing over a few hundred dollars would be a financial challenge that could deter follow through.

“It would have a high impact on my decision, depending on the cost. It’s hard to put a number on that. When you’re older and retired and your income is fixed, cost is important. For selfish reasons I would want it [genetic test] to be as low as possible. And being under Medicare, I would want them to cover it.” – Site5 patient.

“I do worry [about costs] because my spouse is working two jobs right now where we’re trying to pay hospital bills and stuff. I’ve got payments for surgery last year. I would want to know [cost of genetic test for LS]. If it’s real high I wouldn’t have it done because I don’t want to put no more burden …That is a concern because some insurances don’t pay for some stuff.” – Site6 patient.

The second most common concern described by 23% (17/75) of participants centered on the trustworthiness and “accuracy of testing”. For example, participants felt if the genetic test was less than 50% accurate in confirming LS, then that might impact their willingness to follow through.

‘If there’s only 20% chance that it’s accurate, then that might weigh on my decision of, ‘is this worth the time and effort, etcetera?’” – Site1 patient.

Having to “attend an additional appointment” was a concern for 13% (10/75) of participants, particularly as it pertained to possible transportation challenges and the “timing” of the genetic test relative to other ongoing cancer treatment. Additionally, some participants (12%; 9/75) were concerned about the test result “impacting health insurance coverage,” fearing documentation of the result could lead to insurance discrimination.

“If I couldn’t get down there [for genetic test] …being too old to drive or if I couldn’t see well enough…” – Site8 patient

“I’d hate to see someone not get insurance because of a pre-existing condition because they were tested for it.” – Site5 patient.

Finally, a few participants had minor concerns regarding the genetic test, including: “unnecessary information” due to older age or cancer stage (9%; 7/75); lack of “provider recommendation” about it (9%; 7/75); result may create additional “worry and anxiety” (4%; 3/75); and lack of “patient-informed choice” (4%; 3/75).

Communication preferences and advice to health systems (Fig. 1)

Participants shared how they would prefer to learn about their potential tumor screening and follow-up genetic testing results. Over half, 51% (38/75), felt an in-person conversation would be best when sharing either tumor screening or confirmatory genetic testing results. Communicating results via phone was the next best option (25%; 19/75). Some reported that a secure email or letter communication would be acceptable (12%; 9/75) or had no strong preference (12%; 9/75).

“I would prefer that I get news [TS or GT results] in-person. That way I can ask all the questions I need to ask right then and there.” – Site3 patient.

Regarding whom should communicate the tumor screening and confirmatory genetic test results, 56% (42/75) suggested it should be an expert in genetics who can clearly answer patient questions and provide follow-up recommendations. Almost a quarter had “no preference,” as long as the provider is knowledgeable about LS (24%; 18/75). A few thought it should be “whoever ordered the screening” (13%; 10/75) or their current main provider, whether a primary care provider (PCP) or oncologist (6%; 5/75).

“For me the important thing would be someone who would be capable of answering all my questions …What’s the odds of me getting cancer again, or what follow-up treatment should I be having? How often should I be going in for tests? What tests? All those kind of questions. So as long as the person had the answers, sufficiently knowledgeable, then that would be a good person.” – Site8 patient.

Regarding when to communicate tumor screening and/or confirmatory genetic testing results for LS, almost half of the participants (43%; 32/75) believed this should be as soon as possible given the importance of the information for informing future actions, while another 41% (31/75) had no strong preference for timing, deferring to providers as to when results should be made available to patients. A few participants (8%; 6/75) suggested the result communication for either tumor screening or confirmatory genetic testing should occur after some time has passed post-cancer surgery or treatment, or had no opinion (8%; 6/75).

“I think they should test the tumor right then and there, while they were doing this pathology report. I think the sooner you understand what’s going on and what’s coming along in your future, the better.” – Site1 patient.

Participants offered additional suggestions. The majority, 96% (72/75), recommended healthcare systems should routinely screen for LS given the importance for both patients and their blood relatives. In doing this, participants suggested healthcare systems need to provide clear, proactive education – both written and verbal – on the reasons for LS screening and the steps in the process, from tumor screening to confirmatory genetic testing. For example, participants suggested highlighting the following: benefits of screening; ease of screening; accuracy of results; how privacy is protected; how results potentially impact care and surveillance; and what the potential cost may be. Some participants (21%; 16/75) recommend a shared decision-making approach at the point of confirmatory genetic testing, allowing patients agency in determining whether they want to undergo genetic testing, which is consistent with the current practice of patients meeting with a genetic counselor prior to genetic testing.

“Make it clear to the patient that they were screened and what the screening determined - what the screening was, how it works, how the results and analysis were determined - to fill in the gaps between the whole screening piece of it.” – Site7 patient.

“I personally think it should be automatic…I wouldn’t want to just be given the information and then dropped there. I’d want to know what I should be doing now. For instance, if [results] said ‘I don’t have it’, would that cut down on the other kinds of procedures like colonoscopies and the frequency thereof?” –Site2 patient.

Most participants (89%; 67/75) would want support from their healthcare system in sharing their LS diagnosis result with their blood relatives, including access to trustworthy educational material regarding what LS is, how to screen for it, and what the next steps are for any family members that could be easily shared (e.g., brochure or online link). Similarly, 63% (47/75) believe healthcare systems should regularly and automatically remind and schedule patients for any ongoing surveillance following an LS diagnosis, such as scheduling yearly colonoscopies. Others advised improving provider education about LS to increase their awareness of it for their patients (11%; 8/75).

“Either pamphlets or a letter, what it entails, what it involves so that family members have an understanding…in some of these things you need to read it a couple of times to fully grasp it.” – Site4 patient.

“A reminder would be helpful, a memory reminder two to three months before colonoscopy. It [colonoscopy] takes some planning.” – Site8 patient.