Purpose: Familial adenomatous polyposis (FAP) is a rare genetic syndrome associated with 100% risk of developing colorectal cancer. Two prophylactic surgical options exist that place different emphases on cancer-risk reduction and quality of life. We previously demonstrated that limited information exists about surgical options to facilitate patient decision-making. Our objective was to assess FAP patients' decisional support needs and develop a decision aid to facilitate patient-driven decision-making regarding type of prophylactic surgery.

Methods: Needs assessment was performed through formative qualitative interviews with patients(n=14) and content experts(n=18), eliciting challenging aspects of the decision, decision aid content and format. Interviews were analyzed using grounded theory until data and theoretical saturation reached. Reliability testing was performed by corroborator review. Patient preferred decision-making role was assessed using the Control Preferences Scale. Using interview and systematic literature review data and guided by “Patient Decision Aid Checklist for Users”, a decision aid was developed. Expert review established content validity. Pilot testing was performed with interviewed patients, assessing acceptability, comprehensibility, and balance.

Results: Most patients (82%) desired active roles in decision-making. Qualitative interviews demonstrated that: knowledge was variable, patients found it difficult to obtain accurate, patient-oriented information; there is a need to align preoperative expectations to outcome and prepare for life-after-surgery. Comprehensive information conveyed as worst-case scenario was thought imperative. Patients' young age, state of mind, and family experiences were identified as challenges to decision-making participation. A written booklet was thought to be the optimal format.

The decision aid (“FAP and Surgery: What are my Treatment Options?”), a 21-page colored booklet, includes general information, best-worst case comparison of options for risk reduction and quality of life, implicit values clarification through patient quotations and question-prompt sheet, and specifics regarding life-after-surgery.

12/14 (86%) patients reviewed the decision aid (median 20 minutes). Most (>85%) found it “very helpful”. All found it easy to understand. 84% felt it had the “right amount” of information; 82% found it “balanced”. All would recommend the decision aid to others.

Conclusions: Although challenges to FAP patients' participation in decision-making exist, a decision aid appears to mitigate some of the difficulties. Our decision aid was widely endorsed and preliminary data suggest that it will be useful. Developing methods to disseminate decision aids for rare diseases represents a unique barrier to use.