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Under-referral of Plain community members for genetic services despite being qualified for genetic evaluation.
Ehrenberg, Sarah; Walsh Vockley, Catherine; Nelson, Erica; Baker, Jennifer; Arcieri, Michael; Lindenberger, Jessica; Ghaloul-Gonzalez, Lina.
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  • Ehrenberg S; School Medicine, University of Pittsburgh, Pittsburgh, PA, USA.
  • Walsh Vockley C; Division of Medical Genetics, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.
  • Nelson E; Division of Medical Genetics, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.
  • Baker J; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.
  • Arcieri M; Division of Medical Genetics, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.
  • Lindenberger J; Division of Medical Genetics, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.
  • Ghaloul-Gonzalez L; School Medicine, University of Pittsburgh, Pittsburgh, PA, USA.
J Genet Couns ; 30(4): 1084-1090, 2021 08.
Article en En | MEDLINE | ID: mdl-33817879
Plain community people (Amish and Mennonites) have increased risk of having recessive genetic disorders. This study was designed to assess the rate of referral of Plain people to genetic services at UPMC Children's Hospital of Pittsburgh. Medical records of Plain patients from a 1-year time period were reviewed. Data collected included demographic information, clinical presentation, referral for genetic services, and diagnosis. Of the 303 patients, 102 (33.7%) had a clinical presentation suggestive of a genetic disorder, yet only 32 of those 102 patients (31.4%) had been evaluated by the division of Medical Genetics. These data indicate that less than half of Plain patients with a clinical presentation suggestive of a genetic disorder had been referred to the division of Medical Genetics for a formal evaluation. Now that under-referral of Plain patients has been confirmed, providers can be educated in order to increase referrals for genetic services and facilitate positive healthcare outcomes for the Plain Community.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Derivación y Consulta / Servicios Genéticos Tipo de estudio: Evaluation_studies Límite: Child / Humans Idioma: En Revista: J Genet Couns Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Derivación y Consulta / Servicios Genéticos Tipo de estudio: Evaluation_studies Límite: Child / Humans Idioma: En Revista: J Genet Couns Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos