biostudies-literatureUnknown21(1)Pinto E Vairo FInvestigative and Functional Genomics ProgramMayo Clinic Center for Individualized MedicineEverett J. and Jane M. HauckWilliam O. Lund, Jr. and Natalie C. Lund Charitable Foundation<h4>Background</h4>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.<h4>Methods</h4>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 PRJournal of translational medicine410https://www.ebi.ac.uk/biostudies/studies/S-EPMC10288779biostudies-literatureImplementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).PMC10288779Faubion WALazaridis KNKruisselbrink TDriscoll SWAnderson SAVella ASabrowsky SMMcAllister TMLoftus ECSikkink KJTebben PJJackson LMRobinson SIKumar SLteif ANBandel LAWong-Kisiel LCKolbert KJAbate EGFlanagan EPKnudson AKSamadder NJJPorquera EMCStephens MCDhamija RKemppainen JLPresutti RJOrandi ABKlee EWRoberts LRSelcen DKroc SAGarzon GGMHogan MCFervenza FCCreo ALShupe GFThomas BDavis JMGraddy CBMauermann MLPinto E Vairo FBasiaga MLPittock STBurke EMSchimmenti LAKeddis MTMulvihill LAJoshi AYWarrington KJWierenga KJGable DMRistagno EHProchnow CAOrtega VEEl Ters MAoudia SLVitek CRRRamanan VKPatnaik MSKoster MJWhalen DAEkpoh IUfalseImplementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).<h4>Background</h4>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.<h4>Methods</h4>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 PR2023-01-01T00:00:00Z2023 Jun2026-06-26T03:15:13.844Z2025-04-19T04:23:11.41ZS-EPMC102887793735379710.1186/s12967-023-04183-7