Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples. Issue 1 (11th June 2021)

• Record Type: Journal Article
• Authors: McConkie‐Rosell, Allyn; Schoch, Kelly; Sullivan, Jennifer; Spillmann, Rebecca C.; Cope, Heidi; Tan, Queenie K.‐G.; Palmer, Christina G. S.; Hooper, Stephen R.; Shashi, Vandana
• Other Names: Acosta Maria T. investigator.; Adam Margaret investigator.; Adams David R. investigator.; Agrawal Pankaj B. investigator.; Alejandro Mercedes E. investigator.; Alvey Justin investigator.; Amendola Laura investigator.; Andrews Ashley investigator.; Ashley Euan A. investigator.; Azamian Mahshid S. investigator.; Bacino Carlos A. investigator.; Bademci Guney investigator.; Baker Eva investigator.; Balasubramanyam Ashok investigator.; Baldridge Dustin investigator.; Bale Jim investigator.; Bamshad Michael investigator.; Barbouth Deborah investigator.; Bayrak‐Toydemir Pinar investigator.; Beck Anita investigator.; Beggs Alan H. investigator.; Behrens Edward investigator.; Bejerano Gill investigator.; Bennet Jimmy investigator.; Berg‐Rood Beverly investigator.; Bernstein Jonathan A. investigator.; Berry Gerard T. investigator.; Bican Anna investigator.; Bivona Stephanie investigator.; Blue Elizabeth investigator.; Bohnsack John investigator.; Bonnenmann Carsten investigator.; Bonner Devon investigator.; Botto Lorenzo investigator.; Boyd Brenna investigator.; Briere Lauren C. investigator.; Brokamp Elly investigator.; Brown Gabrielle investigator.; Burke Elizabeth A. investigator.; Burrage Lindsay C. investigator.; Butte Manish J. investigator.; Byers Peter investigator.; Byrd William E. investigator.; Carey John investigator.; Carrasquillo Olveen investigator.; Chang Ta Chen Peter investigator.; Chanprasert Sirisak investigator.; Chao Hsiao‐Tuan investigator.; Clark Gary D. investigator.; Coakley Terra R. investigator.; Cobban Laurel A. investigator.; Cogan Joy D. investigator.; Coggins Matthew investigator.; Sessions Cole F. investigator.; Colley Heather A. investigator.; Cooper Cynthia M. investigator.; Craigen William J. investigator.; Crouse Andrew B. investigator.; Cunningham Michael investigator.; D'Souza Precilla investigator.; Dai Hongzheng investigator.; Dasari Surendra investigator.; Davids Mariska investigator.; Dayal Jyoti G. investigator.; Deardorff Matthew investigator.; Dell'Angelica Esteban C. investigator.; Dhar Shweta U. investigator.; Dipple Katrina investigator.; Doherty Daniel investigator.; Dorrani Naghmeh investigator.; Douine Emilie D. investigator.; Draper David D. investigator.; Duncan Laura investigator.; Earl Dawn investigator.; Eckstein David J. investigator.; Emrick Lisa T. investigator.; Eng Christine M. investigator.; Esteves Cecilia investigator.; Estwick Tyra investigator.; Falk Marni investigator.; Fernandez Liliana investigator.; Ferreira Carlos investigator.; Fieg Elizabeth L. investigator.; Findley Laurie C. investigator.; Fisher Paul G. investigator.; Fogel Brent L. investigator.; Forghani Irman investigator.; Fresard Laure investigator.; Gahl William A. investigator.; Glass Ian investigator.; Godfrey Rena A. investigator.; Golden‐Grant Katie investigator.; Goldman Alica M. investigator.; Goldstein David B. investigator.; Grajewski Alana investigator.; Groden Catherine A. investigator.; Gropman Andrea L. investigator.; Gutierrez Irma investigator.; Hahn Sihoun investigator.; Hamid Rizwan investigator.; Hanchard Neil A. investigator.; Hassey Kelly investigator.; Hayes Nichole investigator.; High Frances investigator.; Hing Anne investigator.; Hisama Fuki M. investigator.; Holm Ingrid A. investigator.; Hom Jason investigator.; Horike‐Pyne Martha investigator.; Huang Alden investigator.; Huang Yong investigator.; Isasi Rosario investigator.; Jamal Fariha investigator.; Jarvik Gail P. investigator.; Jarvik Jeffrey investigator.; Jayadev Suman investigator.; Johnston Jean M. investigator.; Karaviti Lefkothea investigator.; Kelley Emily G. investigator.; Kennedy Jennifer investigator.; Kiley Dana investigator.; Kohane Isaac S. investigator.; Kohler Jennefer N. investigator.; Krakow Deborah investigator.; Krasnewich Donna M. investigator.; Kravets Elijah investigator.; Korrick Susan investigator.; Koziura Mary investigator.; Krier Joel B. investigator.; Lalani Seema R. investigator.; Lam Byron investigator.; Lam Christina investigator.; Lanpher Brendan C. investigator.; Lanza Ian R. investigator.; Christopher Lau C. investigator.; LeBlanc Kimberly investigator.; Lee Brendan H. investigator.; Lee Hane investigator.; Levitt Roy investigator.; Lewis Richard A. investigator.; Lincoln Sharyn A. investigator.; Liu Pengfei investigator.; Liu Xue Zhong investigator.; Longo Nicola investigator.; Loo Sandra K. investigator.; Loscalzo Joseph investigator.; Maas Richard L. investigator.; Macnamara Ellen F. investigator.; MacRae Calum A. investigator.; Maduro Valerie V. investigator.; Majcherska Marta M. investigator.; Mak Bryan investigator.; Malicdan May Christine V. investigator.; Mamounas Laura A. investigator.; Manolio Teri A. investigator.; Mao Rong investigator.; Maravilla Kenneth investigator.; Markello Thomas C. investigator.; Marom Ronit investigator.; Marth Gabor investigator.; Martin Beth A. investigator.; Martin Martin G. investigator.; Martínez‐Agosto Julian A. investigator.; Marwaha Shruti investigator.; McCauley Jacob investigator.; McCormack Colleen E. investigator.; McCray Alexa T. investigator.; McGee Elisabeth investigator.; Mefford Heather investigator.; Lawrence Merritt J. investigator.; Might Matthew investigator.; Mirzaa Ghayda investigator.; Morava Eva investigator.; Moretti Paolo M. investigator.; Morimoto Marie investigator.; Mulvihill John J. investigator.; Murdock David R. investigator.; Nakano‐Okuno Mariko investigator.; Nath Avi investigator.; Nelson Stan F. investigator.; Newman John H. investigator.; Nicholas Sarah K. investigator.; Nickerson Deborah investigator.; Nieves‐Rodriguez Shirley investigator.; Novacic Donna investigator.; Oglesbee Devin investigator.; Orengo James P. investigator.; Pace Laura investigator.; Pak Stephen investigator.; Carl Pallais J. investigator.; Papp Jeanette C. investigator.; Parker Neil H. investigator.; Phillips John A. investigator.; Posey Jennifer E. investigator.; Potocki Lorraine investigator.; Pusey Barbara N. investigator.; Quinlan Aaron investigator.; Raskind Wendy investigator.; Raja Archana N. investigator.; Rao Deepak A. investigator.; Renteria Genecee investigator.; Reuter Chloe M. investigator.; Rives Lynette investigator.; Robertson Amy K. investigator.; Rodan Lance H. investigator.; Rosenfeld Jill A. investigator.; Rosenwasser Natalie investigator.; Ruzhnikov Maura investigator.; Sacco Ralph investigator.; Sampson Jacinda B. investigator.; Samson Susan L. investigator.; Saporta Mario investigator.; Ron Scott C. investigator.; Schaechter Judy investigator.; Schedl Timothy investigator.; Scott Daryl A. investigator.; Sharma Prashant investigator.; Shin Jimann investigator.; Signer Rebecca investigator.; Sillari Catherine H. investigator.; Silverman Edwin K. investigator.; Sinsheimer Janet S. investigator.; Sisco Kathy investigator.; Smith Edward C. investigator.; Smith Kevin S. investigator.; Solem Emily investigator.; Solnica‐Krezel Lilianna investigator.; Stoler Joan M. investigator.; Stong Nicholas investigator.; Sullivan Jennifer A. investigator.; Sun Angela investigator.; Sutton Shirley investigator.; Sweetser David A. investigator.; Sybert Virginia investigator.; Tabor Holly K. investigator.; Tamburro Cecelia P. investigator.; Tekin Mustafa investigator.; Telischi Fred investigator.; Thorson Willa investigator.; Tifft Cynthia J. investigator.; Toro Camilo investigator.; Tran Alyssa A. investigator.; Tucker Brianna M. investigator.; Urv Tiina K. investigator.; Vanderver Adeline investigator.; Velinder Matt investigator.; Viskochil Dave investigator.; Vogel Tiphanie P. investigator.; Wahl Colleen E. investigator.; Wallace Stephanie investigator.; Walley Nicole M. investigator.; Walsh Chris A. investigator.; Walker Melissa investigator.; Wambach Jennifer investigator.; Wan Jijun investigator.; Wang Lee‐kai investigator.; Wangler Michael F. investigator.; Ward Patricia A. investigator.; Wegner Daniel investigator.; Wener Mark investigator.; Wenger Tara investigator.; Perry Katherine Wesseling investigator.; Westerfield Monte investigator.; Wheeler Matthew T. investigator.; Whitlock Jordan investigator.; Wolfe Lynne A. investigator.; Woods Jeremy D. investigator.; Yamamoto Shinya investigator.; Yang John investigator.; Yu Guoyun investigator.; Zastrow Diane B. investigator.; Zhao Chunli investigator.; Zuchner Stephan investigator.;
• Is Part Of: Journal of genetic counseling. Volume 31:Issue 1(2022)
• Page Start: 59
• Page End: 70
• Publication Date: 2021-06-11
• Subjects: exome and genomic sequencing -- undiagnosed disorders -- healthcare empowerment -- genetic counseling -- parental perspectives -- rare disorders; Genetic counseling -- Periodicals; 616.042
• DOI: 10.1002/jgc4.1451
• Languages: English
• ISSNs: 1059-7700

Abstract

Abstract: The Genome Empowerment Scale (GEmS), developed as a research tool, assesses perspectives of parents of children with undiagnosed disorders about to undergo exome or genome sequencing related to the process of empowerment. We defined genomic healthcare empowerment as follows: perceived ability to understand and seek new information related to the genomic sequencing, manage emotions related to the diagnostic process and outcomes, and utilize genomic sequencing information to the betterment of the individual/child and family. The GEmS consists of four scales, two are primarily emotion‐focused (Meaning of a Diagnosis, and Emotional Management of the Process) and two are action‐oriented (Seeking Information and Support, and Implications and Planning). The purpose of this research was to provide a strategy for interpreting results from the GEmS and present illustrative cases. These illustrations should serve to facilitate use of the GEmS in the clinical and research arena, particularly with respect to guiding genetic counseling processes for parents of children with undiagnosed conditions.