E-viri
Recenzirano
Odprti dostop
-
Pinto E Vairo, Filippo; Kemppainen, Jennifer L; Vitek, Carolyn R Rohrer; Whalen, Denise A; Kolbert, Kayla J; Sikkink, Kaitlin J; Kroc, Sarah A; Kruisselbrink, Teresa; Shupe, Gabrielle F; Knudson, Alyssa K; Burke, Elizabeth M; Loftus, Elle C; Bandel, Lorelei A; Prochnow, Carri A; Mulvihill, Lindsay A; Thomas, Brittany; Gable, Dale M; Graddy, Courtney B; Garzon, Giovanna G Moreno; Ekpoh, Idara U; Porquera, Eva M Carmona; Fervenza, Fernando C; Hogan, Marie C; El Ters, Mireille; Warrington, Kenneth J; Davis, 3rd, John M; Koster, Matthew J; Orandi, Amir B; Basiaga, Matthew L; Vella, Adrian; Kumar, Seema; Creo, Ana L; Lteif, Aida N; Pittock, Siobhan T; Tebben, Peter J; Abate, Ejigayehu G; Joshi, Avni Y; Ristagno, Elizabeth H; Patnaik, Mrinal S; Schimmenti, Lisa A; Dhamija, Radhika; Sabrowsky, Sonia M; Wierenga, Klaas J; Keddis, Mira T; Samadder, Niloy Jewel J; Presutti, Richard J; Robinson, Steven I; Stephens, Michael C; Roberts, Lewis R; Faubion, Jr, William A; Driscoll, Sherilyn W; Wong-Kisiel, Lily C; Selcen, Duygu; Flanagan, Eoin P; Ramanan, Vijay K; Jackson, Lauren M; Mauermann, Michelle L; Ortega, Victor E; Anderson, Sarah A; Aoudia, Stacy L; Klee, Eric W; McAllister, Tammy M; Lazaridis, Konstantinos N
Journal of translational medicine, 06/2023, Letnik: 21, Številka: 1Journal Article
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. 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. 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. 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.
Avtor
Vnos na polico
Trajna povezava
- URL:
Faktor vpliva
Dostop do baze podatkov JCR je dovoljen samo uporabnikom iz Slovenije. Vaš trenutni IP-naslov ni na seznamu dovoljenih za dostop, zato je potrebna avtentikacija z ustreznim računom AAI.
Leto | Faktor vpliva | Izdaja | Kategorija | Razvrstitev | ||||
---|---|---|---|---|---|---|---|---|
JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
Baze podatkov, v katerih je revija indeksirana
Ime baze podatkov | Področje | Leto |
---|
Povezave do osebnih bibliografij avtorjev | Povezave do podatkov o raziskovalcih v sistemu SICRIS |
---|
Vir: Osebne bibliografije
in: SICRIS
To gradivo vam je dostopno v celotnem besedilu. Če kljub temu želite naročiti gradivo, kliknite gumb Nadaljuj.