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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).)

Depression, suicidal ideation, burnout, and moral injury are on the rise among physicians. Depression and suicidal ideation are mental health disorders that result from multiple interacting factors including biological vulnerabilities and acute stressors. Medical treatment for depression and suicidal ideation is critical to interrupt the potentially deadly progression to suicide that occurs when one's ability to find hope and other solutions is clouded by despair. Yet, stigma and perceived stigma of seeking treatment for mental health disorders still plagues medical providers. Transitions during medical training and practice can be particularly vulnerable time periods, though newer evidence suggests that overall, physicians are not at an increased risk of suicide compared to the general population. While burnout and moral injury are common among rehabilitation physicians, unlike depression, they are not directly associated with suicidal ideation. Opportunities for continued improvement in mental health resources and institutional support exist across the spectrum from medical student to staff physician. With wellness now increasingly supported and promoted by various medical organizations and recognition of the importance of access to effective mental health treatment, regaining hope and positivity while restoring resiliency in physicians, trainees, and medical students is possible.

Telemedicine uses modern telecommunication technology to exchange medical information and provide clinical care to individuals at a distance. Initially intended to improve health care for patients in remote settings, telemedicine now has a broad clinical scope with the general purpose of providing convenient, safe, and time- and cost-efficient care. The coronavirus disease 2019 pandemic has created marked nationwide changes in health care access and delivery. Elective appointments and procedures have been canceled or delayed, and multiple states still have some degree of shelter-in-place orders. Many institutions are now relying more heavily on telehealth services to continue to provide medical care to individuals while also preserving the safety of health care professionals and patients. Telemedicine can also help reduce the surge in health care needs and visits as restrictions are lifted. In recent weeks, there has been a significant amount of information and advice on how to best approach telemedicine visits. Given the frequent presentation of individuals with musculoskeletal complaints to the medical practitioner, it is important to have a framework for the virtual musculoskeletal physical examination. This will be of importance as telemedicine continues to evolve, even after coronavirus disease 2019 restrictions are lifted. This article will provide the medical practitioner performing a virtual musculoskeletal examination with a specific set of guidelines, both written and visual, to enhance the information obtained when evaluating the shoulder, hip, knee, ankle, and cervical and lumbar spine. In addition to photographs, accompanying videos are included to facilitate and demonstrate specific physical examination techniques that the patient can self-perform., (Copyright © 2020 Mayo Foundation for Medical Education and Research. Published by Elsevier Inc. All rights reserved.)