Information exchange between patients with Lynch syndrome and their genetic and non-genetic health professionals: whose responsibility?

Individuals at high risk for Lynch syndrome (LS) should be offered genetic counselling, since preventive options are available. However, uptake of genetic services and follow-up care are currently suboptimal, possibly caused by inadequate exchange of information. Therefore, this qualitative study aims to gain insight in the process of information exchange between patients diagnosed with LS and their non-genetic (i.e., general practitioner, gastroenterologist, gynaecologist) and genetic (i.e., clinical geneticist or genetic counsellor) health professionals concerning referral for genetic counselling and follow-up care. Participants comprised 13 patients diagnosed with LS (8 index patients and 5 of their affected relatives) and 24 health professionals (6 general practitioners, 8 gastroenterologists, 6 gynaecologists and 4 genetic health professionals). Analysis of the interview transcripts was performed in parallel and again after the interviews, following guidelines for qualitative research and using MAXQDA software. The main finding is that patients may 'get lost' between health professionals who lack a clear overview of their own and each other's role and responsibilities in the referral and follow-up care for patients with possible LS. Education of non-genetic health professionals and optimisation of communication between health professionals might help to enable more timely diagnosis of LS and allow patients to address their doubts and questions to the most appropriate healthcare professional.

Gatekeeper role of gastroenterologists and surgeons in recognising and discussing familial colorectal cancer.

This study aimed to gain insight into the gatekeeper role of surgeons and gastroenterologists (including residents) during a first consultation at a tertiary gastro-intestinal centre regarding referral for genetic counselling, and to test the feasibility of a checklist for indications for referral. Consecutive patients were invited before and after introduction of a checklist, to complete a questionnaire assessing their perception of discussing cancer genetic topics. Initial consultations were audiotaped to assess the quality of this discussion by gastroenterologists and surgeons. Data on completeness of the checklist and referral were collected from medical files. No significant differences were found between the Before and After group regarding patients' reports of discussing cancer in the family (77%, n = 34 vs 89%, n = 33, p = 0.16). In 28% (n = 10) of the audiotaped consultations family history was adequately discussed, in 58% (n = 21) it was considered inadequate and in 14% (n = 5) of consultations it was not discussed at all. A checklist was present in 53% (n = 27) of the medical files. Of these, 5 (19%) were incomplete. Gastroenterologists and surgeons (in training) have difficulty in fulfilling their gatekeeper role of recognizing patients at familial risk for CRC. Although they often discuss familial cancer during the initial consultation, their exploration seems insufficient to reveal indications for referral for genetic counselling. Therefore, healthcare professionals should not only understand genetics and the importance of cancer family history, but also be effective in the communication of this subject to enable more adequate referral of patients for genetic counselling.

Non-genetic health professionals' attitude towards, knowledge of and skills in discussing and ordering genetic testing for hereditary cancer.

Non-genetic health professionals (NGHPs) have insufficient knowledge of cancer genetics, express educational needs and are unprepared to counsel their patients regarding their genetic test results. So far, it is unclear how NGHPs perceive their own communication skills. This study was undertaken to gain insight in their perceptions, attitudes and knowledge. Two publically accessible databases were used to invite NGHPs providing cancer genetic services to complete a questionnaire. The survey assessed: sociodemographic attributes, experience in ordering hereditary cancer genetic testing, attitude, knowledge, perception of communication skills (e.g. information giving, decision-making) and educational needs. Of all respondents (N = 49, response rate 11%), most have a positive view of their own information giving (mean = 53.91, range 13-65) and decision making skills (64-77% depending on topic). NGHPs feel responsible for enabling disease and treatment related behavior (89-91%). However, 20-30% reported difficulties managing patients' emotions and did not see management of long-term emotions as their responsibility. Correct answers on knowledge questions ranged between 41 and 96%. Higher knowledge was associated with more confidence in NGHPs' own communication skills (r(s) = .33, p = 0.03). Although NGHPs have a positive view of their communication skills, they perceive more difficulties managing emotions. The association between less confidence in communication skills and lower knowledge level suggests awareness of knowledge gaps affects confidence. NGHPs might benefit from education about managing client emotions. Further research using observation of actual counselling consultations is needed to investigate the skills of this specific group of providers.

Health professionals' evaluation of delivering treatment-focused genetic testing to women newly diagnosed with breast cancer.

Increasingly, women are offered genetic testing shortly after diagnosis of breast cancer to facilitate decision-making about treatment, often referred to as 'treatment-focused genetic testing' (TFGT). As understanding the attitudes of health professionals is likely to inform its integration into clinical care we surveyed professionals who participated in our TFGT randomized control study. Thirty-six completed surveys were received (response rate 59%), 15 (42%) health professionals classified as genetic and 21 (58%) as non-genetic. Mainly positive experiences with participating in the TFGT trial were reported. The high cost of testing and who could best deliver information about TGFT to the patient were raised as key constraints to implementation of TFGT in usual care. More non-genetic than genetic health professionals (44 vs 8%) preferred that the surgeon provide the information for decision-making about TFGT. While costs of TFGT itself and the time and effort of staff involved were perceived barriers, as testing costs become lower, it is expected that TFGT will become a routine part of standard clinical care for patients at high genetic risk in the near future.

Does being informed and feeling informed affect patients' trust in their radiation oncologist?

OBJECTIVE: We investigated whether the content of information provided by radiation oncologists and their information giving performance increase patients' trust in them. METHODS: Questionnaires were used to assess radiotherapy patients (n=111) characteristics before their first consultation, perception of information giving after the first consultation and trust before the follow-up consultation. Videotaped consultations were scored for the content of the information provided and information giving performance. RESULTS: Patients mean trust score was 4.5 (sd=0.77). The more anxious patients were, the less they tended to fully trust their radiation oncologist (p=0.03). Patients' age, gender, educational attainment and anxious disposition together explained 7%; radiation oncologists' information giving (content and performance) explained 3%, and patients' perception of radiation oncologists' information-giving explained an additional 4% of the variance in trust scores. CONCLUSION: It can be questioned whether trust is a sensitive patient reported outcome of quality of communication in highly vulnerable patients. PRACTICE IMPLICATIONS: It is important to note that trust may not be a good patient reported outcome of quality of care. Concerning radiation oncologists' information giving performance, our data suggest that they can particularly improve their assessments of patients' understanding.

Do radiation oncologists tailor information to patients needs? And, if so, does it affect patients?

BACKGROUND: Our study aims to investigate whether information given by radiation oncologists to their patients is tailored to the patient's desired level of information and, if so, what the effect of tailoring is on patient-reported outcomes, i.e. satisfaction, health, anxiety and self-efficacy. MATERIAL AND METHODS: Consecutive radiotherapy patients (n = 150) completed a baseline questionnaire one week before their initial consultation, immediately following this consultation, and again one week prior to their first follow-up visit. The initial consultation was videotaped and 10 radiation oncologists' information giving behavior (content and duration) analyzed. RESULTS: The overall amount of information provided by the radiation oncologists matched with patients' information needs in 50.8% (k = 0.07) of the consultations. No significant associations between tailored information giving and patient-reported outcomes were found, except for tailoring of information on procedures, and patients' anxiety and global health. These associations were no longer significant when correcting for patients' background characteristics. CONCLUSION: This study shows that radiation oncologists poorly tailor their information to the needs of their patients. However, lack of tailoring is not associated with worse patient-reported outcomes. Until more evidence is available, radiation oncologists may explicitly ask patients about their information preferences and tailor the information provided accordingly.

Do patients' information needs decrease over the course of radiotherapy?

PURPOSE: We aimed to investigate if cancer patients' information needs decrease during radiotherapy and if so, which patient, consultation and radiation oncologist characteristics are associated with a decrease in information needs over time. METHODS: In this longitudinal study, patients (n = 104) completed a baseline questionnaire a week before the initial radiotherapy consultation, immediately following this initial consultation, and 1 week prior to the first follow-up visit, which took place on average 3-5 weeks after the initial visit. Besides information needs, measured by the Information Preference for Radiotherapy Patients scale, the questionnaire assessed patient, consultation and radiation oncologist characteristics. RESULTS: Information needs decreased over time, but remained at a high level. Being religious, being male, having low health literacy and higher perceived involvement during the consultation were all statistically significantly associated to a decrease in information needs on specific domains (e.g. procedures or side effects). CONCLUSIONS: Cancer patients' information needs decline between the initial consultation and the first follow-up visit, but remain high. It is therefore advised to investigate the patients' information needs at every radiotherapy visit and not rely on giving information just once. Furthermore, radiation oncologists should check if the information given at first consultation is understood and remembered. By those means, tailored information giving becomes possible.

Psychological distress and quality of life of partners of individuals with familial adenomatous polyposis.

OBJECTIVE: Familial adenomatous polyposis (FAP) is a genetic condition characterized by the development of multiple adenomas in the colorectum that could lead to colorectal cancer. Our aim was to assess levels and predictors of psychological distress and quality of life (QOL) among partners of FAP-patients. METHODS: A nationwide, cross-sectional survey using validated self-report questionnaires assessing psychological distress and QOL. RESULTS: One hundred and twenty-nine partners completed the questionnaire (84% response rate), 30% of whom reported moderate-to-severe levels of distress. The partners' distress was associated significantly with the patients' distress, having children, and feelings of guilt. Fifty-seven percent of the partners with moderate-to-severe distress levels had received professional psychosocial support. Partners did not differ significantly from the general population in QOL. However, 9-21% reported that FAP had affected their work, leisure time activities, and relationships. CONCLUSIONS: Clinicians should be particularly alert for heightened distress levels in partners of patients who are themselves distressed, and among those with children.

Female fertility after colorectal surgery for familial adenomatous polyposis: a nationwide cross-sectional study.

BACKGROUND: Information on postoperative fertility problems in female patients with familial adenomatous polyposis (FAP) is scarce. Previous studies in FAP or colitis patients almost uniformly describe a reduction in fertility after ileal pouch-anal anastomosis, compared with ileorectal anastomosis. OBJECTIVE: To describe fertility problems in female FAP patients after colectomy and to investigate the relationship between self-reported fertility problems and the type of operation and other surgery-related factors (eg, comorbid conditions). METHODS: A questionnaire addressing surgery, fertility problems, and desire to have children was sent to a nationwide sample of FAP patients. Medical data were verified in the FAP-registry of the Netherlands Foundation for the Detection of Hereditary Tumors. Differences between women with and without fertility problems were investigated. RESULTS: Of 138 patients, 23 (17%) reported current or past fertility problems. The prevalence of fertility problems was similar among those who had undergone ileorectal anastomosis, ileal pouch-anal anastomosis, and proctocolectomy with ileostomy. None of the other surgery-related factors, nor desmoid tumors or cancer were associated significantly with the development of fertility problems. Patients reporting fertility problems were significantly younger at diagnosis of FAP (mean, 20 vs. 27 years, P < 0.05) and at the time of the first surgical procedure (mean, 22 vs. 28 years, P < 0.05). CONCLUSIONS: The risk of developing postoperative fertility problems is not associated significantly with the type of surgery, indication for surgery, complications, or other comorbid conditions. Postoperative fertility problems are more common among women who had their first surgical procedure at a younger age.

Attitudes toward genetic testing in childhood and reproductive decision-making for familial adenomatous polyposis.

Childhood DNA testing, prenatal diagnosis (PND) and preimplantation genetic diagnosis (PGD) are available for familial adenomatous polyposis (FAP). However, the use of PND and PGD is controversial. The purpose of this study was to investigate attitudes toward, and experiences with, childhood DNA testing, PND and PGD among members of families at high risk for FAP. In this nationwide, cross-sectional study, questionnaires were sent to individuals from families at high risk for FAP assessing attitudes toward and experiences with childhood testing, PND and PGD, as well as several sociodemographic, clinical and psychosocial variables. Of the individuals from FAP families invited to participate in the study, 525 members participated (response rate=64%). Most parents who had children who were minors (n=93) (82%) were satisfied with the DNA testing procedure. One-third of all individuals wanted DNA testing for their children before age 12. Forty percent of FAP patients indicated that the disease influenced their desire to have children. Only 15% considered termination of pregnancy for FAP acceptable. Approximately 30% of individuals with a FAP diagnosis and their partners considered PND and PGD as acceptable for themselves. A positive attitude was associated with higher levels of guilt and a positive attitude toward termination of pregnancy. Importantly, of those with FAP at childbearing age, 84% had had no previous information at all about either PND or PGD. Future efforts should be aimed at educating FAP family members about reproductive options, allowing them to make an informed choice about family planning. Routine discussion of all reproductive options with a medical specialist should be encouraged.

Psychological distress and use of psychosocial support in familial adenomatous polyposis.

OBJECTIVE: Familial adenomatous polyposis (FAP) is characterized by multiple adenomas in the colorectum with a high risk to develop colorectal cancer. It is unclear whether individuals at risk of FAP experience distress due to this potentially life-threatening disease. This nationwide study assessed: (1) the prevalence of psychological distress; and (2) the need for and use of specialized professional psychosocial support. METHODS: In this cross-sectional study, all individuals from families at high risk for FAP registered at the Netherlands Foundation for the Detection of Hereditary Tumours were invited to complete a questionnaire assessing, among other issues, generalized, cancer-specific and FAP-specific distress. RESULTS: In total, 525 individuals completed the questionnaire. Approximately 20% of the respondents had moderate to severe levels of FAP-specific distress. Levels of generalized distress were comparable to the general Dutch population. Significantly more individuals with a FAP diagnosis had frequent cancer worries than those at risk of FAP or non-carriers (p=0.02). Distress levels were more strongly associated with psychosocial variables (e.g. perceived cancer risk), than with sociodemographic or clinical variables. Up to 43% of the variance in distress could be explained by all variables combined. Of those moderately to severely distressed, 26% had received specialized professional psychosocial support, while 30% of those did not receive the support they wanted. CONCLUSIONS: A substantial minority of individuals reported moderate to severe distress levels associated with FAP. However, only one-third of those received specialized professional psychosocial support. We recommend the use of a screening questionnaire to identify individuals in need of such support.

Constructive Technology Assessment (CTA) as a tool in coverage with evidence development: the case of the 70-gene prognosis signature for breast cancer diagnostics.

OBJECTIVES: Constructive Technology Assessment (CTA) is a means to guide early implementation of new developments in society, and can be used as an evaluation tool for Coverage with Evidence Development (CED). We used CTA for the introduction of a new diagnostic test in the Netherlands, the 70-gene prognosis signature (MammaPrint) for node-negative breast cancer patients. METHODS: Studied aspects were (organizational) efficiency, patient-centeredness and diffusion scenarios. Pre-post structured surveys were conducted in fifteen community hospitals concerning changes in logistics and teamwork as a consequence of the introduction of the 70-gene signature. Patient-centeredness was measured by questionnaires and interviews regarding knowledge and psychological impact of the test. Diffusion scenarios, which are commonly applied in industry to anticipate on future development and diffusion of their products, have been applied in this study. RESULTS: Median implementation-time of the 70-gene signature was 1.2 months. Most changes were seen in pathology processes and adjuvant treatment decisions. Physicians valued the addition of the 70-gene signature information as beneficial for patient management. Patient-centeredness (n = 77, response 78 percent): patients receiving a concordant high-risk and discordant clinical low/high risk-signature showed significantly more negative emotions with respect to receiving both test-results compared with concordant low-risk and discordant clinical high/low risk-signature patients. The first scenario was written in 2004 before the introduction of the 70-gene signature and identified hypothetical developments that could influence diffusion; especially the "what-if" deviation describing a discussion on validity among physicians proved to be realistic. CONCLUSIONS: Differences in speed of implementation and influenced treatment decisions were seen. Impact on patients seems especially related to discordance and its successive communication. In the future, scenario drafting will lead to input for model-based cost-effectiveness analysis. Finally, CTA can be useful as a tool to guide CED by adding monitoring and anticipation on possible developments during early implementation, to the assessment of promising new technologies.

Methodology of constructive technology assessment in health care.

OBJECTIVES: Technologies in health care are evolving quickly, with new findings in the area of biotechnological and genetic research being published regularly. A health technology assessment (HTA) is often used to answer the question of whether the new technology should be implemented into clinical practice. International evidence confirms that the results of HTA research sometimes have limited impact on practical implementation and on coverage decisions; the study design is commonly based on the paradigm of stability of both the technology and the environment, which is often not the case. Constructive technology assessment (CTA) was first described in the 1980s. In addition to the traditional HTA elements, this approach also takes into account the technology dynamics by emphasizing sociodynamic processes. With a CTA approach, comprehensive assessment can be combined with an intentional influence in a favorable direction to improve quality. METHODS: In this study, the methodological aspects mainly concerning the diagnostic use of CTA are explained. The methodology will be illustrated using the controlled introduction of a new technology, called microarray analysis, into the clinical practice of breast cancer treatment as a case study. Attention is paid to the operationalization of the phases of development and implementation and the research methods most appropriate for CTA. CONCLUSIONS: In addition to HTA, CTA can be used as a complementary approach, especially in technologies that are introduced in an early stage of development in a controlled way.