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Background: As reproductive genetic carrier screening (RGCS) becomes more widely accessible, ensuring uptake by primary healthcare professionals (HCPs) is essential to equitable service provision. This study aimed to identify and prioritise implementation strategies to reduce barriers and support HCPs to routinely offer RGCS in Australia. Methods: HCPs (n = 990) involved in a large national research study, offering couples-based RGCS, were surveyed at three time points: prior to offering RGCS through the study (Survey 1: Barriers); 8+ weeks after offering to their patients (Survey 2: Possible supports); and towards the end of the study (Survey 3: Prioritised supports). HCPs were from primary care (e.g. general practice, midwifery) and tertiary care (e.g. fertility, genetics) settings. Results were analysed via a novel approach of using behaviour change theory (Capability, Opportunity and Motivation – COM.B) to align theory to practice. Results: Survey 1 (n = 599) identified four barrier themes: time constraints, lack of HCP knowledge and skill, patient receptivity, and HCP's perceived value of RGCS. Survey 2 (n = 358) identified 31 supports that could facilitate HCPs offering RGCS. Survey 3 (n = 390) was analysed separately by speciality and clinic location. Prioritised supports for primary care HCPs were 'regular continuing professional development activities' and 'a comprehensive website to direct patients for information'. There was general accordance with the perceived importance of the supports, although some difference in relation to funding between professional groups and clinic locations. Conclusion: This study identified a range of supports acceptable to HCPs across specialties and geographic locations that policymakers may use to direct efforts to ensure the roll out of RGCS is equitable across Australia. As reproductive genetic carrier screening becomes more widely accessible, ensuring uptake by primary health care professionals (HCPs) is essential to equitable service provision. We surveyed HCPs offering reproductive genetic carrier screening and identified a range of priorities to address barriers to and support for routine offering of screening. Top supports included patient resources, funding, and ongoing education. Policymakers may use these findings to direct their future efforts. [ABSTRACT FROM AUTHOR]

Background: Mobile apps are becoming increasingly popular, with 5.70 million apps available in early 2021. Smartphones can provide portable and convenient access to health apps. Here, we consider apps for people with one of the estimated 7000 rare conditions, which are defined as having an incidence of <1 in 2000. The needs of people with rare conditions are known to be different from those of people with more common conditions. The former may be socially isolated (not knowing anyone else who has the condition) and may not be able to find reliable information about the disorder.Objective: The aim of this review is to search for apps developed specifically for people diagnosed with a rare disease and to assess them for quality using the Mobile App Rating Scale (MARS). We examine features that address 6 identified needs of people with a rare disorder and make recommendations for future developers.Methods: Google Play Store (Android) and Apple App Store (iOS) were searched for relevant health-related apps specifically for rare diseases. The search included the names of 10 rare disease groups. App quality was determined using MARS, assessing app engagement, functionality, aesthetics, and information.Results: We found 29 relevant apps (from a total of 2272) addressing 14 rare diseases or disease groups. The most common rare conditions addressed were cystic fibrosis (n=6), hemophilia (n=5), and thalassemia (n=5). The most common app features were web-based information and symptom trackers. The mean MARS score was 3.44 (SD 0.84). Lowest scores were for engagement.Conclusions: Most apps provided factual and visual information, providing tools for self-monitoring and resources to help improve interactions during health consultations. App origin and quality varied greatly. Developers are recommended to consider ways to make appropriate apps more easily identifiable to consumers, to always include high-quality information, improve engagement, provide qualitative evaluations of the app, and include consumers and clinicians in the design. [ABSTRACT FROM AUTHOR]