Psychosocial issues in genetic testing for familial adenomatous polyposis: a review of the literature.

OBJECTIVES: Familial adenomatous polyposis (FAP) is characterized by the development of multiple adenomas in the colon that can lead to colorectal cancer. Being a carrier for FAP is hypothesized to have a negative impact on psychosocial well-being. This paper reviews the current literature on the psychosocial aspects of FAP. METHODS: Four literature databases were used to identify all papers published between 1986 and 2007 about psychosocial and behavioral issues in FAP related to genetic testing. The following topics were reviewed: uptake and psychosocial impact of genetic testing, endoscopic screening behavior and psychosocial well-being in general. RESULTS: Seventeen papers were identified. Across studies, genetic test uptake varied between 62 and 97%. Two out of three studies showed clinical levels of anxiety and/or depression after genetic testing. A minority of individuals were not reassured by a negative test result, and intended to continue endoscopic surveillance. Well-being (e.g. quality of life, family functioning) was found to be lower in some studies, while comparable to the general population in other studies. The studies had several shortcomings, such as mixed patient population (e.g. colorectal and breast cancer) and small sample sizes, and provided no information on other potentially important issues, such as psychosexual development. CONCLUSIONS: Future studies should employ larger sample sizes and standardized measurements. Additionally, future studies should address the long-term consequences of genetic testing for FAP, psychosexual development and consequences of FAP for the family as a whole.

An effective educational strategy for improving knowledge, risk perception, and risk communication among colorectal adenoma patients.

BACKGROUND: We have previously shown that most adenoma patients are unaware of the personal and familial implications of their diagnosis. Our goal was to determine whether a brief, computer-based educational program (CBEP) administered alone after polypectomy, or in combination with a personalized letter (PL), was more effective than standard care (SC) for heightening awareness and improving risk communication. METHODS: Using a quasi-randomized design, adenoma-bearing subjects were assigned to the CBEP +PL (n=99), CBEP (n=96), or SC (n=120) arms. The CBEP was administered before discharge from the endoscopy unit. All subjects completed a phone survey 3 months postpolypectomy assessing knowledge, risk perception, and notification of first-degree relatives. RESULTS: Composite knowledge scores were higher (P<0.05) for the CBEP+PL group than CBEP and SC groups. Subjects in the CBEP+PL group were more likely (P<0.05) than those in the SC group to know that adenomas but not hyperplastic polyps were precancerous, that patients with adenomas were at increased risk of future adenomas, and that the siblings and children of adenoma patients may be at increased colorectal cancer risk. Subjects in the CBEP+PL group were also more likely (P<0.05) to know their polyp's histology, perceive themselves and their siblings/children to be at increased risk of colorectal neoplasia, and notify a first-degree relative. These associations remained significant after adjusting for age, sex, race/ethnicity, education, and endoscopist. No differences were observed between the CBEP and SC groups. CONCLUSIONS: The CBEP+PL intervention is an effective strategy for improving knowledge, risk perception, and risk communication among adenoma patients.

Colonoscopic screening for colorectal cancer improves quality of life measures: a population-based screening study.

BACKGROUND: Screening asymptomatic individuals for neoplasia can have adverse consequences on quality of life. Colon cancer screening is widespread but the quality of life (QOL) consequences are unknown. This study determined the impact of screening colonoscopy on QOL measures in asymptomatic average-risk participants. METHODS: Asymptomatic male and female participants aged 55-74 years were randomly selected from the Australian Electoral Roll or six primary care physicians' databases. Participants completed the Short-Form (SF-36) Quality of Life Assessment at baseline and at a mean of 39 days after colonoscopy. Outcome measures were (i) significant changes in raw scores in any of the eight SF-36 domains assessed following colonoscopic screening and (ii) improvements or declines in previously validated categories, representing clinically significant changes, within any of the eight SF-36 domains. RESULTS: Baseline QOL measures were similar to those of a matched general population sample. Role Limitations due to Emotions, Mental Health and Vitality raw scores significantly improved following colonoscopy (P < 0.05, 2-tailed t-test). Health ratings according to Category were similar (same clinical status) in the majority of participants. However, 30% participants recorded clinically significant improvement in the Mental Health and Vitality domains (P < 0.05, Wilcoxon Signed-Ranks test). This improvement was not offset by declines in other domains or in other participants. Improvement in QOL was not related to colonoscopy results. CONCLUSION: Average-risk persons benefit significantly from colon cancer screening with colonoscopy, improving in Mental Health and Vitality domains of Quality of Life. This improvement is not offset by declines in other domains.

Long-term outcome and health-related quality of life after laparoscopic and open colectomy for benign disease.

BACKGROUND: The benefits of laparoscopic colectomy (LC) vs open colectomy (OC) for the treatment of benign disease have not yet been clearly demonstrated with regard to long-term consequences and health-related quality of life (HRQL). The aim of this study was to compare LC and OC in terms of outcome and HRQL and to determine whether a generic nonspecific instrument for HRQL assessment is valid in postoperative follow-up. METHODS: Forty-nine patients who underwent LC for elective right hemicolectomy (RH) or sigmoid resection (SR) for benign polyps or uncomplicated diverticular disease between 1992 and 2000 were evaluated and compared to 50 controls treated by OC in the same period. All patients were evaluated by postal questionnaire to determine recurrence rates and surgery-related complications. HRQL was assessed by the SF-36 Physical and Mental Component Summary Score (PCS, MCS) and by the SF-36 Health Survey, which measures eight different health-quality domains, including physical and social functioning (PF, SF), general health perception (GH), physical and emotional role limitations (RP, RE), body pain (BP), vitality (VT), and mental health (MH). RESULTS: The LC and OC patients were similar in age, gender, body mass index (BMI), American Society of Anesthesiologists (ASA) classification, and diagnosis. There were significant differences between the two groups in resection type (26 RH:23 SR in LC vs 16 RH:34 SR in OC, p = 0.03) and length of follow-up (median, 39 and 53.5 months, respectively, p = 0.04), but neither parameter was predictive of the main SF-36 scores (PCS and MCS). There were no differences between the groups in recurrence rates (8% in LC vs 11% in OC) or surgery-related complications, including incisional hernias (16.3% in LC vs 17% in OC) and small bowel obstructions (2% in LC vs 10.4% in OC). None of the eight SF-36 Health Survey domains or the PCS or MCS scores showed significant differences between LC and OC patients in HRQL. However, occurrence of hernia after surgery was predictive of lower SF-36 scores, specifically in PF (p = 0.047), GH (p = 0.045), SF (p = 0.047), MH (p = 0.041), and MCS (p = 0.037). In addition, small bowel obstruction was significantly associated with lower scores in BP (p = 0.008), GH (p = 0.008), SF (p = 0.013), RE (p = 0.026), MH (p = 0.003), and MCS (p = 0.003). CONCLUSION: LC was not different from OC for selected indications that measure long-term outcome and HRQL. SF-36 appears to be an appropriate instrument to measure postoperative HRQL, showing responsiveness to changes in objective outcome measures.