Suchergebnisse

AbstractGenetic testing plays an increasingly important role in the diagnosis and potential treatment of inherited and rare conditions, such as aniridia—a disease that leads to abnormal eye development, as well as in health research on these conditions. As genetic testing is increasingly sought for accurate and early diagnosis of rare genetic disorders and in the context of direct‐to‐consumer genomics, it is critical to examine the public‐facing information about access to these services and reimbursement policies. We conducted a targeted policy and public‐facing resource search. Our analysis of resources available for the patient community revealed that there is very little practical guidance available about access and reimbursement for genetic testing for rare diseases. Greater clarity in public‐facing resources about genetic testing would be beneficial to the patient community as it would promote informed choices about the procedure, mitigate potential harms associated with lack of information and enable patient engagement in their own health care.

To explore and integrate the perspectives of patients with hip and knee osteoarthritis (OA), their caregivers, and clinicians who are working with these patients about current preoperative rehabilitation ("prehab") content and delivery. Participants were individuals with hip (n = 46) or knee OA (n = 14), their family caregivers (n = 16), and clinicians working with patients with hip/knee OA (n = 15). In semi-structured interviews and focus groups, participants answered questions regarding barriers to accessing prehab, gaps in prehab content, learning preferences, and delivery formats. Interviews were audiotaped and transcribed verbatim. Data were analyzed using Qualitative Description method. Four main themes were identified: (1) "I didn't get any of that" discusses barriers in accessing prehab; (2) "I never got a definitive answer" highlights necessary information in prehab; (3) "better idea of what's going to happen" emphasizes the positive and negative aspects of prehab; (4) "a lot of people are shifting to online" describes participants' perspectives on online education. Our findings confirm the need for prehab education and the potential of online prehab education. The results inform the development of prehab educational modules based on users' input.