Making the BEST decision-the BESTa project development, implementation and evaluation of a digital Decision Aid in Swedish cancer screening programmes- a description of a research project.

BACKGROUND: Sweden has a long tradition of organized national population-based screening programmes. Participation rates differ between programmes and regions, being relatively high in some groups, but lower in others. To ensure an equity perspective on screening, it is desirable that individuals make an informed decision based on knowledge rather than ignorance, misconceptions, or fear. Decision Aids (DAs) are set to deliver information about different healthcare options and help individuals to visualize the values associated with each available option. DAs are not intended to guide individuals to choose one option over another. The advantage of an individual Decision Aid (iDA) is that individuals gain knowledge about cancer and screening by accessing one webpage with the possibility to communicate with health professionals and thereafter make their decision regarding participation. The objective is therefore to develop, implement and evaluate a digital iDA for individuals invited to cancer screening in Sweden. METHODS: This study encompasses a process-, implementation-, and outcome evaluation. Multiple methods will be applied including focus group discussions, individual interviews and the usage of the think aloud technique and self-reported questionnaire data. The project is based on The International Patient Decision Aid Standards (IPDAS) framework and the proposed model development process for DAs. Individuals aged 23-74, including women (the cervical-, breast- and CRC screening module) and men (the CRC screening module), will be included in the developmental process. Efforts will be made to recruit participants with self-reported physical and mental limitations, individuals without a permanent residence and ethnic minorities. DISCUSSION: To the best of our knowledge, the present study is the first attempt aimed at developing an iDA for use in the Swedish context. The iDA is intended to facilitate shared decision making about participation in screening. Furthermore, the iDA is expected to increase knowledge and raise awareness about cancer and cancer screening. PATIENT OR PUBLIC CONTRIBUTION: Lay people are involved throughout the whole development and implementation process of the digital DA. TRIAL REGISTRATION: NCT05512260.

Examining the continuum of resistance model in two population-based screening studies in Sweden.

In studies recruited on a voluntary basis, lack of representativity may impair the ability to generalize findings to the target population. Previous studies, primarily based on surveys, have suggested that generalizability may be improved by exploiting data on individuals who agreed to participate only after receiving one or several reminders, as such individuals may be more similar to non-participants than what early participants are. Assessing this idea in the context of screenings, we compared sociodemographic characteristics and health across early, late, and non-participants in two large population-based screening studies in Sweden: STROKESTOP II (screening for atrial fibrillation; 6,867 participants) and SCREESCO (screening for colorectal cancer; 39,363 participants). We also explored the opportunities to reproduce the distributions of characteristics in the full invited populations, either by assuming that the non-participants were similar to the late participants, or by applying a linear extrapolation model based on both early and late participants. Findings showed that early and late participants exhibited similar characteristics along most dimensions, including civil status, education, income, and health examination results. Both these types of participants in turn differed from the non-participants, with fewer married, lower educational attainments, and lower incomes. Compared to early participants, late participants were more likely to be born outside of Sweden and to have comorbidities, with non-participants similar or even more so. The two empirical models improved representativity in some cases, but not always. Overall, we found mixed support that data on late participation may be useful for improving representativeness of screening studies.

User experience of self-reported computerized medical history taking for acute chest pain: The Clinical Expert Operating System Chest Pain Danderyd Study.

BACKGROUND AND OBJECTIVE: Chest pain is one of the most common complaints in emergency departments (EDs). Self-reported computerized history taking (CHT) programmes can be used for interpretation of the clinical significance of medical information coming directly from patients. The adoption of CHT in clinical practice depends on reactions and attitudes to the technology from patients and their belief that the technology will have benefits for their medical care. The study objective was to explore the user experience of the self-reported CHT programme Clinical Expert Operating System (CLEOS) in the setting of patients visiting an ED for acute chest pain. METHODS: This qualitative interview study is part of the ongoing CLEOS-Chest Pain Danderyd Study. A subset (n = 84) of the larger sample who had taken part in self-reported history taking during waiting times at the ED were contacted by telephone and n = 54 (64%) accepted participation. An interview guide with open-ended questions was used and the text was analysed using directed content analysis. RESULTS: The patients' experiences of the CLEOS programme were overall positive although some perceived it as extensive. The programme was well accepted and despite the busy environment, patients were highly motivated and deemed it helpful to make a diagnosis. Six categories of user experience emerged: The clinical context, The individual context, Time aspect, Acceptability of the programme, Usability of the programme and Perceptions of usefulness in a clinical setting. CONCLUSIONS: The programme was well accepted by most patients in the stressful environment at ED although some found it difficult to answer all the questions. Adjustments to the extent of an interview to better suit the context of the clinical use should be a future development of the programme. The findings suggest that CHT programmes can be integrated as a standard process for collecting self-reported medical history data in the ED setting.

Different information needs-The major reasons for calling the helpline when invited to colorectal cancer screening.

INTRODUCTION: This study pertains to the design of a decision aid (DA) to shed light on information and support needs in colorectal cancer screening, with the aim to explore the calling patterns to the Screening of Swedish Colons (SCREESCO) study's helpline. METHODS: A cross-sectional study was conducted with data from documented telephone calls to the SCREESCO study, including individuals, 59-60 years, randomized to colonoscopy or high sensitive faecal immunochemical test (FIT). RESULTS: More than 2000 calls (women 58.5%; colonoscopy 59%) were analysed. Calling patterns: unsubscribing from screening, confirmation of participation, logistical concerns about the screening procedure, counselling, and FIT screening difficulties or in need of a new FIT test. Comorbidity was the most frequent reason for unsubscribing and most of the counselling calls included questions about the FIT test or the colonoscopy. CONCLUSION: Most of the calls to the helpline seemed to be related to individuals' lack of understanding about the organization of the screening programme and the screening procedure. Therefore, we find it important to further stress the tailoring part in our DA developing process, that is, provide limited information initially, with the possibility of access to more, if desired by the individual, still with respect to the individual's needs, health and digital literacy. PATIENT AND PUBLIC CONTRIBUTION: Individuals representing the public and invited to SCREESCO participated since we analysed their calls to the helpline. The findings will contribute to our continued work with the DA where the public will contribute and participate.

Once-only colonoscopy or two rounds of faecal immunochemical testing 2 years apart for colorectal cancer screening (SCREESCO): preliminary report of a randomised controlled trial.

BACKGROUND: Screening for colorectal cancer is done with lower gastrointestinal endoscopy or stool-based tests. There is little evidence from randomised trials to show primary colonoscopy reduces mortality in colorectal cancer. We aimed to investigate the effect of screening with once-only colonoscopy or two rounds of faecal immunochemical test screening on colorectal cancer mortality and incidence. METHODS: We did a randomised controlled trial in Sweden (SCREESCO). Residents in 18 of 21 regions who were age 60 years in the year of randomisation were identified from a population register maintained by the Swedish Tax Agency. A statistician with no further involvement in the trial used a randomised block method to assign individuals to once-only colonoscopy, two rounds of faecal immunochemical testing (OC-Sensor; 2 years apart), or a control group (no intervention; standard diagnostic pathways), in a ratio of 1:6 for colonoscopy versus control and 1:2 for faecal immunochemical testing versus control. Masking was not possible due to the nature of the trial. The primary endpoints of the trial are colorectal cancer mortality and colorectal cancer incidence. Here, we report preliminary participation rates, baseline findings, and adverse events from March, 2014, to December, 2020, in the two intervention groups after completion of recruitment and screening, up to the completion of the second faecal immunochemical testing round. Analyses were done in the intention-to-screen population, defined as all individuals who were randomly assigned to the respective study group. This study is registered with ClinicalTrials.gov, NCT02078804. FINDINGS: Between March 1, 2014, and Dec 31, 2020, 278 280 people were included in the study; 31 140 were assigned to the colonoscopy group, 60 300 to the faecal immunochemical test group, and 186 840 to the control group. 10 679 (35·1%) of 30 400 people who received an invitation for colonoscopy participated. 33 383 (55·5%) of 60 137 people who received a postal faecal immunochemical test participated. In the intention-to-screen analysis, colorectal cancer was detected in 49 (0·16%) of 31 140 people in the colonoscopy group versus 121 (0·20%) of 60 300 in the faecal immunochemical test group (relative risk [RR] 0·78, 95% CI 0·56-1·09). Advanced adenomas were detected in 637 (2·05%) people in the colonoscopy group and 968 (1·61%) in the faecal immunochemical test group (RR 1·27, 95% CI 1·15-1·41). Colonoscopy detected more right-sided advanced adenomas than faecal immunochemical testing. There were two perforations and 15 major bleeds in 16 555 colonoscopies. No intervention-related deaths occurred. INTERPRETATION: The diagnostic yield and the low number of adverse events indicate that the design from this trial, both for once-only colonoscopy and faecal immunochemical test screening, could be transferred to a population-based screening service if a benefit in disease-specific mortality is subsequently shown. FUNDING: Swedish regions, County Council, Regional Cancer Center Mellansverige, Swedish Cancer Society, Aleris Research and Development Fund, Eiken Chemical.

Two sides of every coin: individuals' experiences of undergoing colorectal cancer screening by faecal immunochemical test and colonoscopy.

BACKGROUND: Acceptability of the recommended screening procedure represents a crucial determinant of the impact of colorectal cancer (CRC) screening programmes. This study aims to explore how individuals in CRC screening experience the screening procedure. METHODS: Study participants (n = 44), aged 60-62 years, screened by faecal immunochemical test (FIT) and/or colonoscopy, were recruited from the Screening of Swedish Colons (SCREESCO) study. Data were collected through six focus group discussions and 20 individual telephone interviews and analyzed using qualitative content analysis. RESULTS: The analysis resulted in 30 subcategories together forming four categories describing individuals' experiences of the CRC screening procedure: From no worries to bothering emotions; Varying logistical concerns; Being well treated, but inconsistently informed and involved and Expectations not matching reality. Some subcategories only applied to either FIT or colonoscopy screening, while others applied to both screening procedures. CONCLUSIONS: Undergoing CRC screening by FIT or colonoscopy is an individual experience. Strategies to improve patient experiences may include using one-sample FITs and optimizing bowel preparation and scheduling of colonoscopies according to individual preferences. Ensuring that needs for emotional support are acknowledged, together with clear and adequate information delivered at right time are further important aspects to consider.

Room for improvement: One third of Lynch syndrome patients presenting for genetic testing in a highly specialised centre in Stockholm already have cancer.

BACKGROUND: Lynch syndrome is caused by germline mutations in the mismatch repair genes and is characterised by a familial accumulation of colorectal and other cancers. Earlier identification of Lynch syndrome patients enables surveillance and might reduce the risk of cancer. It is important to explore whether today's clinical care discovers patients with Lynch syndrome suitable for surveillance in time. This study aimed to describe what led to a diagnosis of Lynch syndrome in the cohort referred to the Hereditary Gastrointestinal Cancer Unit, Karolinska University Hospital, Solna, Sweden for gastrointestinal surveillance. METHODS: This was a descriptive study. Data from 1975 to 2018 were collected and compiled as a database. Age at diagnosis was calculated from the date when a pathogenic MMR gene mutation was confirmed, from the period June 1994-September 2018. Data were collected from patient protocols prospectively during patient consultations and medical records retrospectively. Criteria for inclusion were registration at the outpatient clinic and a confirmed mismatch repair gene mutation. RESULTS: A total of 305 patients were eligible for inclusion. Three major reasons for diagnosis were identified: 1. Predictive testing of a previously known mutation in the family (62%, mean age 37), 2. A family history of Lynch associated tumours (9%, mean age 37), 3. A diagnosis of cancer (29%, mean age 51). The proportion diagnosed due to cancer has not changed over time. CONCLUSION: A high proportion of patients (29%) were identified with Lynch syndrome after they had been diagnosed with an associated cancer, which suggests that there is significant room for improvement in the diagnosis of patients with Lynch syndrome before cancer develops.

Decision-making about participation in colorectal cancer screening in Sweden: Autonomous, value-dependent but uninformed?

OBJECTIVE: To investigate knowledge, values and preferences, and involvement among screening participants and non-participants in relation to colorectal cancer (CRC) and screening decision. METHODS: Individuals (N = 2748) from the Screening of Swedish Colons trial were invited to respond to the SCREESCO questionnaire, assessing information/knowledge, values/preferences, and involvement. RESULTS: Respondents' (screening participants, n = 1320; non-participants, n = 161) knowledge varied across items; 90 % recognised faecal blood as a CRC symptom, but less than half cited overweight, smoking, alcohol, and physical inactivity as risk factors. Incidence and case fatality were often over- and underestimated, respectively (>45 and 40 %). Non-participants were more uncertain about their CRC risk (p = 0.015) and less convinced that screening reduces the risk of dying from CRC (p < 0.001). In decision-making, screening participants took most into consideration the importance of early detection and CRC worry, and non-participants the risk of discomfort and complications due to the screening examination (p < 0.001). Most individuals made the decision without involving others. CONCLUSION: For informed and shared decisions, efforts need to be made to increase public knowledge about CRC and to develop interventions to support individuals in decision-making. PRACTICE IMPLICATIONS: These results can inform and guide future initiatives to facilitate high quality decisions and CRC screening uptake in Sweden.

Gender, having a positive FIT and type of hospital are important factors for colonoscopy experience in colorectal cancer screening - findings from the SCREESCO study.

OBJECTIVES: Assessing the experience of screening procedures is crucial for improving the quality and acceptance of colonoscopy in colorectal cancer screening. The aim of the study was to investigate the colonoscopy experience and associated factors among individuals who underwent a colonoscopy in the Screening of Swedish Colons (SCREESCO) study. METHODS: Participants in the Screening of Swedish Colons (SCREESCO; n = 7593) randomized clinical trial (colonoscopy vs. faecal immunochemical test (FIT)) were enrolled. The primary outcome was overall colonoscopy experience measured with a study-specific questionnaire. Secondary endpoints were measured using multiple regression analyses with factors that included sex, randomization group, geographical regions, university hospital, complications, sedation, clean bowel, time to cecum, and presence of polyps or cancer. RESULTS: A total of 6572 (87%) individuals responded to the questionnaire. The majority was satisfied with the information, care and treatment. Women reported more worry, discomfort and pain, but also better information, care and treatment compared with men. The FIT group was more worried and perceived more discomfort and pain than the colonoscopy group. Type of hospital (geographical region; university hospital vs. not university hospital) was also a significant predictor for the colonoscopy experience. CONCLUSIONS: Although most participants were satisfied with the colonoscopy experience, the study has highlighted areas for improvement. Important factors for colonoscopy experience were gender, randomization group, and type of hospital and therefore crucial to bear in mind when designing screening programs.

Psychometric properties of the SCREESCO questionnaire used in a colorectal cancer screening programme-A Rasch analysis.

INTRODUCTION: Colorectal cancer (CRC) is one of the most common cancer diagnoses among both sexes. Sweden has not yet implemented any CRC screening programme, but a study, Screening of Swedish Colons (SCREESCO), is ongoing. The movement within the health care sector towards a more participatory perspective has led to the increased importance of shared decision making (SDM), and this is suggestively applied when deciding upon screening participation. There is no Swedish questionnaire for assessing the level of SDM in relation to CRC screening. Therefore, the CRC screening module of the National Survey of Medical Decisions was translated and culturally adapted into a Swedish context: the SCREESCO questionnaire. AIM: The SCREESCO questionnaire requires further evaluation, and therefore, the aim, by using the Rasch approach, was to evaluate the psychometric properties of the SCREESCO questionnaire. METHODS: A Rasch partial credit model was chosen to investigate the psychometric properties. The sample consisted of individuals invited to the SCREESCO programme, who have answered the SCREESCO questionnaire. RESULTS: Rating scale structures indicated stability for the response structure used. Satisfactory evidence for validity of internal structure was also shown for the whole questionnaire and two of three concepts/subscales, after deletion of a few items. Validity in response processes indicated acceptable, or close to acceptable, findings, while the results for unidimensionality and differential item functioning (DIF) were somewhat mixed. Separation index revealed less satisfactory results, both for the whole questionnaire and the concepts/subscales. CONCLUSION: This Rasch analysis of the SCREESCO questionnaire revealed that the questionnaire in its current form has difficulties to assess the level of SDM in relation to CRC screening. The achieved results will guide further evaluation and development with the long-term goal of having a Swedish questionnaire, to be used in the health care sector, assessing the level of SDM in relation to CRC screening.

Does the Time Trade-Off Method Reflect Health-Related Quality of Life? A Mixed-Methods Analysis of Preference Measures 10 Years After Aneurysmal Subarachnoid Hemorrhage.

OBJECTIVE: To investigate if the time trade-off (TTO) method reflects health-related quality of life (HRQoL) 10 years after an aneurysmal subarachnoid hemorrhage (aSAH). METHODS: A cross-sectional study with a mixed-methods approach was used to follow up 208 patients treated for aSAH. Data were collected with intramethod mixing; the quantitative data consisted of the EQ-5D-3L instrument and a TTO question, and the qualitative data comprised motivations to the TTO answer. The quantitative data were analyzed statistically and comparisons were made between participants willing to trade off years and those not willing to trade off years. The qualitative data were merged in a matrix and analyzed with manifest content analysis. RESULTS: Participants willing to trade off years scored significantly lower HRQoL, and the correlation between EQ-5Dindex and EQ VAS to TTO values were rs = 0.369 (P < 0.001) and rs = 0.345 (P < 0.001), respectively. In the content analysis, 4 categories emerged: perceived full health or satisfactory life; adaptability and managing strategies; the importance of hope and meaning in life; and unacceptable changes do not make life worth living. The results showed that several reasons other than health status were evident when expressing the willingness to trade off or not trade off life-years. CONCLUSIONS: Individuals willing to trade off years showed significantly poorer HRQoL; however the TTO method did not seem to fully reflect HRQoL. Most participants did not want to trade off years, despite their living with severe disability, making it difficult to fully rely on the TTO method in evaluation of medical outcome.

Are anxiety levels associated with the decision to participate in a Swedish colorectal cancer screening programme? A nationwide cross-sectional study.

OBJECTIVES: Colorectal cancer (CRC) screening programmes are commonly challenged by low uptake, limiting their potential to reduce CRC burden. We aimed to investigate anxiety levels related to the decision to participate or not in CRC screening among screening participants and non-participants. Further to explore associations between higher anxiety levels related to the decision and individuals' characteristics. DESIGN: A nationwide cross-sectional study conducted with individuals included in a national randomised controlled CRC screening trial, the Screening of Swedish Colons (SCREESCO). PARTICIPANTS: A total of 1409 individuals, 60-62 years, recruited from SCREESCO during 2015-2016 participated in the study; 1256 had participated in CRC screening (faecal immunochemical test: n=958; colonoscopy: n=298) and 153 had declined screening participation. MEASURES: Anxiety levels were assessed with the State-Trait Anxiety Inventory (STAI) S-Anxiety Scale. Health literacy (HL) was assessed with the Swedish Functional and Communicative and Critical Health Literacy Scales. RESULTS: Altogether, 79% of survey participants reported lower anxiety levels regarding their CRC screening decision (STAI S-Anxiety <40). Anxiety levels did not differ between screening participants and non-participants (mean STAI S-Anxiety score=34.1 vs 33.9, p=0.859). The odds of reporting higher anxiety levels increased by female sex (OR=1.37; CI 1.04 to 1.80; p=0.025) and previous faecal sampling (OR=1.53; CI 1.14 to 2.05; p=0.004), and decreased if living with partner (OR=0.65; CI 0.48 to 0.88; p=0.005), working (OR=0.72; CI 0.53 to 0.96; p=0.027) or having sufficient HL (functional: OR=0.49; CI 0.33 to 0.73, p≤0.001; communicative and critical: OR=0.55; CI 0.38 to 0.82; p=0.003). CONCLUSIONS: Anxiety levels did not differ between screening participants and non-participants. Higher anxiety scores were associated with certain characteristics. Interventions accounting for these characteristics can be applied to reduce anxiety and facilitate programme acceptance. TRIAL REGISTRATION NUMBER: NCT02078804; Results.

Health literacy levels and views about being invited to a colorectal cancer screening program.

BACKGROUND: Sweden has not yet implemented a national screening program for colorectal cancer, but a nationwide study is ongoing; the Screening of Swedish Colons (SCREESCO). Previous research shows that the use of health care services, together with several health-related outcomes, is associated with an individual's level of health literacy. However, the relation between health literacy and participation in colorectal cancer screening has produced varying results reported within the few studies addressing this issue and therefore, further research is warranted. MATERIAL AND METHODS: The aim was to explore health literacy and views about being invited to screening, among participants and non-participants in a national colorectal cancer screening program. They were randomly sampled to fecal immunochemical test or colonoscopy and a mixed methods approach was applied, using questionnaires, focus group discussions and interviews. RESULTS: The majority of individuals, whether they were participants or non-participants in the SCREESCO program, had an acceptable level of health literacy and no significant differences in health literacy levels between the groups were found. Participants expressed that it was important and appreciated to be able to choose information sources on an individual basis. Among non-participants, the importance of receiving invitations with a clear message that quickly draws one's attention was highlighted. However, both groups expressed a positive outlook towards the invitation. The mixed methods approach revealed that findings from interviews and focus group discussions corresponded to items in the health literacy scales. CONCLUSION: A majority of individuals displayed acceptable levels of health literacy, regardless of whether they chose to participate or not. Similarities between the groups were seen in the qualitative findings regarding views of the invitation. Currently, the SCREESCO invitation letter is distributed by regular mail, but in the future a more dynamic approach could be valuable to increase clarity in the message about importance of screening.

Translation and cultural adaption of the decisions module for colorectal cancer screening into a Swedish version - the SCREESCO questionnaire.

OBJECTIVES: Colorectal cancer (CRC) is suitable for population screening due to its high incidence and the recognizable and treatable prephase, and the present study is part of the larger study; Screening for Swedish Colons (SCREESCO). In Sweden, there is, to our knowledge, no questionnaire assessing shared decision making (SDM) with regard to CRC screening and, therefore, the aim of the study was to translate and culturally adapt the CRC screening module of the National Survey of Medical Decisions (DECISIONS) into a Swedish context. MATERIAL AND METHODS: A qualitative design inspired by guidelines based on methods for cross-cultural adaptation of questionnaires was used. In addition, focus group discussions, individual interviews and think-aloud (TA) sessions were performed. RESULTS: Of the 54 items included in the original DECISION survey, 32 were excluded, 22 were modified, and three were added as a result of the qualitative study. How the health care organization communicated and CRC screening knowledge was communicated were found to be the most important cultural differences between Sweden and the USA. The final questionnaire consists of 24 items. CONCLUSION: The process of translation and cultural adaptation of the CRC screening module of the DECISIONS survey resulted in the removal and modifying of a considerable number of items. The major rationale for the removal and modifying of items can be explained by the different cultural traditions between Sweden and the USA when communicating with the health care system regarding screening participation and how CRC screening information and knowledge is communicated.

The importance of people's values and preferences for colorectal cancer screening participation.

Background: To explore how individuals reason when they make decisions about participating in colorectal cancer (CRC) screening. Methods: Individuals randomized to FIT or colonoscopy included in the Screening of Swedish Colons (SCREESCO) program was invited to focus group discussions and individual telephone interviews. The concept of shared decision-making (SDM: information; values/preferences; involvement) was used as a matrix for the analyses. To validate findings, additional focus group discussions using the nominal group technique were performed. Results: Lack of knowledge of CRC and CRC screening was prominent for participants and non-participants, while the results differed between the groups in relation to their values and preferences. The influence of significant others promoted participation while it prevented it among non-participants. Those who participated and those who did not made it clear that there was no need to involve health care professionals when making the decision. Conclusions: Based on the results, a display of different ways to spread knowledge and communicate about CRC and CRC-screening could be applied such as, community-based information campaigns, decisions aids, interactive questionnaires, chat-functions and telephone support. The disparity in values and preferences between participants and non-participants may be the key to understand why non-participants make their decisions not to participate and warrant further exploration.

The role of illness perceptions in adherence to surveillance in patients with familial adenomatous polyposis (FAP).

OBJECTIVE: The aim of the study was to examine patients' beliefs about having familial adenomatous polyposis (FAP), a hereditary colorectal cancer syndrome, and how these beliefs are associated with adherence to endoscopic surveillance. METHODS: Adult patients diagnosed with FAP on the national Swedish polyposis register who had undergone prophylactic colorectal surgery (n 209, response rate 76%) completed the Illness Perception Questionnaire (IPQ). Logistic regression analysis was used to investigate the relationships between illness perceptions and adherence, when controlling for demographic and clinical factors. RESULTS: FAP was less distressing in men and those with fewer symptoms, reporting less serious consequences and more coherent understanding of FAP. Non-adherence (14%) to surveillance was associated with being older, having undergone surgery less recently and no history of malignancy. Patients' beliefs about their FAP were able to explain unique variance in non-adherence, in particular those who believed FAP was less distressing. CONCLUSIONS: Patients who were non-adherent to endoscopic surveillance had more positive perceptions about their FAP and, in particular, were less emotionally affected compared to those who adhered. As non-adherence implies a greater risk of future malignancies, special efforts are required to effectively prevent cancer in all patients with FAP. Those who have lived with the condition for a long time, and are not troubled by gastrointestinal symptoms or worried about their FAP, may be in need of specific information and support. Further prospective research is required to examine emotional predictors and consequences of non-adherence. Copyright © 2015 John Wiley & Sons, Ltd.

Patients with genetic cancer undergoing surveillance at a specialized clinic rate the quality of their care better than patients at non-specialized clinics.

OBJECTIVES: To compare ratings of quality of care between patients with genetic cancer who receive specialized care with patients who receive non-specialized care while controlling for socio-demographic and clinical variables; MATERIAL AND METHODS: All patients in a national cohort of adult patients diagnosed with familial adenomatous polyposis (FAP) who had undergone prophylactic colorectal surgery were assessed (n = 276, response rate 76%). Quality of care was measured with the Quality of Care from the Patient Perspective (QPP). Univariate and multivariate logistic regression analyses were performed; RESULTS: Patients receiving specialized care were significantly more likely to report the quality of care as better in all three QPP dimensions investigated than those receiving non-specialized care; CONCLUSIONS: In order to promote and maintain good quality of care for surgically treated patients with FAP, and to minimize the risk of cancer, specialized care, including continuity and easy access of health care professionals, should be provided.

Self-reported abdominal symptoms in relation to health status in adult patients with familial adenomatous polyposis.

BACKGROUND: Patients with familial adenomatous polyposis who undergo surgery to prevent colorectal cancer experience various abdominal symptoms that may affect their physical and mental health. OBJECTIVE: This study was designed to investigate self-reported presence, frequency, and troublesomeness of abdominal symptoms in such patients in relation to gender, type of surgery, and physical and mental health. DESIGN: A cohort study with a descriptive and comparative cross-sectional design. SETTING AND PARTICIPANTS: All adult patients in the Swedish Polyposis Registry (Karolinska University Hospital, Stockholm, Sweden) who were diagnosed with familial adenomatous polyposis, had undergone prophylactic colorectal surgery, and were aged 18 to 75 years were invited to return a mailed questionnaire. MAIN OUTCOME MEASURES: Self-reported presence, frequency, and troublesomeness of 21 abdominal symptoms were assessed with the Abdominal Symptom Questionnaire. Physical health and mental health were evaluated with the Medical Outcomes Study Short Form 36 Health Survey. RESULTS: Of 275 eligible patients, 209 (76%) responded. Of respondents, 190 (91%) reported having had at least 1 symptom during the last 3 months. All 21 symptoms investigated were reported. A higher number of symptoms was reported by women than by men: mean, 7.55 (SD, 4.89) vs 5.14 (4.49); P < .01. No significant difference was found between women and men in overall troublesomeness of symptoms: 3.15 (1.30) vs 3.09 (1.27); P = .763. Self-reported number of symptoms was an independent predictor of physical and mental health, with a high number of symptoms related to poor physical and mental health. LIMITATIONS: The Abdominal Symptom Questionnaire has not been previously used in patients with FAP, and measurement of physical and mental health with the Short Form 36 Health Survey may not capture all aspects of health status in patients with familial adenomatous polyposis. CONCLUSION: Patients with familial adenomatous polyposis suffer from a wide variety of abdominal symptoms after colorectal surgery. Identification of patients with a high number of abdominal symptoms is especially important because the number of abdominal symptoms affects patients' physical and mental health.

Patients' views of surgery and surveillance for familial adenomatous polyposis.

BACKGROUND: Familial adenomatous polyposis (FAP) is an inherited condition that requires prophylactic surgery (colectomy) followed by a lifetime program of endoscopic surveillance to prevent colorectal cancer. Patients are normally free of symptoms before surgery but a majority report problems related to bowel function postoperatively. OBJECTIVE: The aim of the study was to gain a deeper understanding of how FAP affects life by exploring patients' view of what it is like living with the illness and being committed to a lifelong screening program. METHODS: Three focus group interviews were conducted, and data were analyzed using descriptive qualitative content analysis. RESULTS: The analysis resulted in two categories related to the participants' view of living with FAP. The first category was associated with concerns related to the hereditary and lifelong nature of the disease as well as to the prophylactic surgery and the second category was related to patients' ways of managing life. CONCLUSION: Most participants expressed unmet needs, such as lack of healthcare providers with good knowledge about FAP, practical and psychosocial support, FAP educational programs, and organized meetings with other persons with the condition. IMPLICATIONS FOR PRACTICE: One important aspect of living with FAP shared by the participants concerned ways of managing life concerns, something that healthcare providers caring for patients with FAP should identify and support. Furthermore, continuity of care by health care providers with good knowledge about FAP can be an important way of reducing patient concerns.

Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families.

BACKGROUND: The dominantly inherited condition familial adenomatous polyposis (FAP) is caused by germline mutations in the APC gene. Finding the causative mutations has great implications for the families. Correlating the genotypes to the phenotypes could help to improve the diagnosis and follow-up of patients. METHODS: Mutation screening of APC and the clinical characterization of 96 unrelated FAP patients from the Swedish Polyposis Registry was performed. In addition to generally used mutation screening methods, analyses of splicing-affecting mutations and investigations of the presence of low-frequency mutation alleles, indicating mosaics, have been performed, as well as quantitative real-time polymerase chain reaction to detect lowered expression of APC. RESULTS: Sixty-one different APC mutations in 81 of the 96 families were identified and 27 of those are novel. We have previously shown that 6 of the 96 patients carried biallelic MUTYH mutations. The 9 mutation-negative cases all display an attenuated or atypical phenotype. Probands with a genotype (codon 1250-1464) predicting a severe phenotype had a median age at diagnosis of 21.8 (range, 11-49) years compared with 34.4 (range, 14-57) years among those with mutations outside this region (P < 0.017). Dense polyposis (> 1000) occurred in 75% of the probands with a severe phenotype compared with 30% in those with mutations outside this region. The morbidity in colorectal cancer among probands was 25% at a mean age of 37.5 years and 29% at a mean age of 46.6 years. CONCLUSION: Using a variety of mutation-detection techniques, we have achieved a 100% detection frequency in classical FAP. Probands with APC mutations outside codon 1250-1464, although exhibiting a less-severe phenotype, are at high risk of having a colorectal cancer at diagnosis indicating that age at diagnosis is as important as the severity of the disease for colorectal cancer morbidity.