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GUÍA: a digital platform to facilitate result disclosure in genetic counseling.
Suckiel, Sabrina A; Odgis, Jaqueline A; Gallagher, Katie M; Rodriguez, Jessica E; Watnick, Dana; Bertier, Gabrielle; Sebastin, Monisha; Yelton, Nicole; Maria, Estefany; Lopez, Jessenia; Ramos, Michelle; Kelly, Nicole; Teitelman, Nehama; Beren, Faygel; Kaszemacher, Tom; Davis, Kojo; Laguerre, Irma; Richardson, Lynne D; Diaz, George A; Pearson, Nathaniel M; Ellis, Stephen B; Stolte, Christian; Robinson, Mimsie; Kovatch, Patricia; Horowitz, Carol R; Gelb, Bruce D; Greally, John M; Bauman, Laurie J; Zinberg, Randi E; Abul-Husn, Noura S; Wasserstein, Melissa P; Kenny, Eimear E.
Afiliación
  • Suckiel SA; The Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Odgis JA; The Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Gallagher KM; Department of Pediatrics, Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore and The Albert Einstein College of Medicine, Bronx, NY, USA.
  • Rodriguez JE; The Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Watnick D; Department of Pediatrics, Division of Pediatric Academic Medicine, Children's Hospital at Montefiore and The Albert Einstein College of Medicine, Bronx, NY, USA.
  • Bertier G; The Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Sebastin M; Department of Pediatrics, Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore and The Albert Einstein College of Medicine, Bronx, NY, USA.
  • Yelton N; The Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Maria E; Department of Pediatrics, Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore and The Albert Einstein College of Medicine, Bronx, NY, USA.
  • Lopez J; Department of Pediatrics, Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore and The Albert Einstein College of Medicine, Bronx, NY, USA.
  • Ramos M; Institute for Health Equity Research, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Kelly N; Department of Population Health Science and Policy, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Teitelman N; Department of Pediatrics, Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore and The Albert Einstein College of Medicine, Bronx, NY, USA.
  • Beren F; Department of Pediatrics, Division of Pediatric Academic Medicine, Children's Hospital at Montefiore and The Albert Einstein College of Medicine, Bronx, NY, USA.
  • Kaszemacher T; Molecular Diagnostics, New York Genome Center, New York, NY, USA.
  • Davis K; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Laguerre I; Institute for Health Equity Research, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Richardson LD; The Children's Cultural Center of Native America, New York, NY, USA.
  • Diaz GA; Institute for Health Equity Research, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Pearson NM; Department of Population Health Science and Policy, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Ellis SB; Department of Emergency Medicine, Icahn School of Medicine at Mount Sinai at Mount Sinai, New York, NY, USA.
  • Stolte C; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Robinson M; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Kovatch P; Molecular Diagnostics, New York Genome Center, New York, NY, USA.
  • Horowitz CR; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Gelb BD; Molecular Diagnostics, New York Genome Center, New York, NY, USA.
  • Greally JM; Institute for Health Equity Research, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Bauman LJ; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Zinberg RE; Scientific Computing and Data Science, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Abul-Husn NS; Institute for Health Equity Research, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Wasserstein MP; Department of Population Health Science and Policy, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Kenny EE; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Genet Med ; 23(5): 942-949, 2021 05.
Article en En | MEDLINE | ID: mdl-33531665
PURPOSE: Use of genomic sequencing is increasing at a pace that requires technological solutions to effectively meet the needs of a growing patient population. We developed GUÍA, a web-based application, to enhance the delivery of genomic results and related clinical information to patients and families. METHODS: GUÍA development occurred in five overlapping phases: formative research, content development, stakeholder/community member input, user interface design, and web application development. Development was informed by formative qualitative research involving parents (N = 22) whose children underwent genomic testing. Participants enrolled in the NYCKidSeq pilot study (N = 18) completed structured feedback interviews post-result disclosure using GUÍA. Genetic specialists, researchers, patients, and community stakeholders provided their perspectives on GUÍA's design to ensure technical, cultural, and literacy appropriateness. RESULTS: NYCKidSeq participants responded positively to the use of GUÍA to deliver their children's results. All participants (N = 10) with previous experience with genetic testing felt GUÍA improved result disclosure, and 17 (94%) participants said the content was clear. CONCLUSION: GUÍA communicates complex genomic information in an understandable and personalized manner. Initial piloting demonstrated GUÍA's utility for families enrolled in the NYCKidSeq pilot study. Findings from the NYCKidSeq clinical trial will provide insight into GUÍA's effectiveness in communicating results among diverse, multilingual populations.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Revelación / Asesoramiento Genético Tipo de estudio: Guideline / Prognostic_studies / Qualitative_research Límite: Child / Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Revelación / Asesoramiento Genético Tipo de estudio: Guideline / Prognostic_studies / Qualitative_research Límite: Child / Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos