Sikkink, Kaitlin J.

Abstract 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, 1,152 patients have been evaluated with an overall solve rate of 14.1% 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.

AbstractGenetic counselors have skills and expertise in genetics and patient care that make them an asset to research and research teams. However, the National Society of Genetic Counselors (NSGC) found in 2020 that more than half of practicing genetic counselors do not participate in research activities. Information describing factors that influence their research participation is lacking in the literature. This study ascertained genetic counselors' workplace and graduate training experiences to provide insight into factors that increase or decrease participation in research activities. A survey was distributed through the NSGC Student Research Survey Program. Practicing genetic counselors that graduated in or before 2020 were eligible to participate. The survey included questions about demographics, implementation of student research projects, research‐specific resources in their graduate programs, perceived barriers and motivations, and current research activities. Interestingly, the majority of respondents participated in research activities between 2017 and 2021; the most common activities included: recognizing a gap(s) in knowledge (68%) and presenting an abstract or poster (64%). Factors that most significantly influenced genetic counselors' research participation included their interest in research (p = 0.0037), their motivation to do research (p = 0.0014), and their perceived intimidation by the research process (p < 0.001). These results provide insight into solutions for the workplace and graduate programs that could increase genetic counselors' research participation.