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Background: In the United States, rare disease (RD) is defined as a condition that affects fewer than 200,000 individuals. Collectively, RD affects an estimated 30 million Americans. A significant portion of RD has an underlying genetic cause; however, this may go undiagnosed. To better serve these patients, the Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD) was created under the auspices of the Center for Individualized Medicine (CIM) aiming to integrate genomics into subspecialty practice including targeted genetic testing, research, and education., Methods: Patients were identified by subspecialty healthcare providers from 11 clinical divisions/departments. Targeted multi-gene panels or custom exome/genome-based panels were utilized. To support the goals of PRaUD, a new clinical service model, the Genetic Testing and Counseling (GTAC) unit, was established to improve access and increase efficiency for genetic test facilitation. The GTAC unit includes genetic counselors, genetic counseling assistants, genetic nurses, and a medical geneticist. Patients receive abbreviated point-of-care genetic counseling and testing through a partnership with subspecialty providers., Results: Implementation of PRaUD began in 2018 and GTAC unit launched in 2020 to support program expansion. Currently, 29 RD clinical indications are included in 11 specialty divisions/departments with over 142 referring providers. To date, 1152 patients have been evaluated with an overall solved or likely solved rate of 17.5% and as high as 66.7% depending on the phenotype. Noteworthy, 42.7% of the solved or likely solved patients underwent changes in medical management and outcome based on genetic test results., Conclusion: Implementation of PRaUD and GTAC have enabled subspecialty practices advance expertise in RD where genetic counselors have not historically been embedded in practice. Democratizing access to genetic testing and counseling can broaden the reach of patients with RD and increase the diagnostic yield of such indications leading to better medical management as well as expanding research opportunities., (© 2023. The Author(s).)

Objective: Intestinal parasitic infections (IPIs) are a public health challenge in developing countries such as Colombia, causing anaemia and delayed growth and development in children. We aimed to estimate the geographical and prevalence trend of IPIs in the last 30 years in school and preschool children in Colombia., Methods: We conducted a systematic review and meta-analysis. We identified potential manuscripts through PubMed, EMBASE, Web of Science, LILACS, Scielo and Google Scholar on the IPIs prevalence in school and preschool children in Colombia. Articles included in the qualitative analysis were published between 1990 and 2020 in English or Spanish and met the inclusion criteria. Subsequently, a random-effects meta-analysis, a meta-regression and a trend analysis were performed., Results: We identified 2292 articles; 109 were included in the qualitative review, and 79 articles were included in the meta-analysis. The estimated IPI prevalence was 55% (95% CI: 48-63). By age group, the prevalence in preschool children was 37% (95% CI: 26-49) and 66% (95% CI: 52-78) in schoolchildren. The prevalence by region was heterogeneous, with the Amazon being the highest (69%) and the Santanderes the lowest (28%). In the last 20 years, the prevalence of helminthiasis has decreased (from 64.66% in 1990-1995 to 22.09% in 2016-2020)., Conclusion: The prevalence of IPIs is high (>30%) in three of the seven regions in Colombia. Biannual administration of mass deworming in schoolchildren is recommended in the Amazon region. Public policies aiming to control IPIs should be reinforced. Further prevalence studies should include Cesar, Guaviare, Vichada and Vaupés, where the epidemiology of IPIs is unknown., Sustainable Development Goals: Good health and wellbeing, clean water and sanitation, sustainable cities and communities., (© 2022 John Wiley & Sons Ltd.)