@article{116f4e3476dd4a6cbff7f3c9890c79d5,
title = "Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples",
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.",
keywords = "exome and genomic sequencing, genetic counseling, healthcare empowerment, parental perspectives, rare disorders, undiagnosed disorders",
author = "{Undiagnosed Disease Network} and Allyn McConkie-Rosell and Kelly Schoch and Jennifer Sullivan and Spillmann, {Rebecca C.} and Heidi Cope and Tan, {Queenie K.G.} and Palmer, {Christina G.S.} and Hooper, {Stephen R.} and Vandana Shashi and Acosta, {Maria T.} and Margaret Adam and Adams, {David R.} and Agrawal, {Pankaj B.} and Alejandro, {Mercedes E.} and Justin Alvey and Laura Amendola and Ashley Andrews and Ashley, {Euan A.} and Azamian, {Mahshid S.} and Bacino, {Carlos A.} and Guney Bademci and Eva Baker and Ashok Balasubramanyam and Dustin Baldridge and Jim Bale and Michael Bamshad and Deborah Barbouth and Pinar Bayrak-Toydemir and Anita Beck and Beggs, {Alan H.} and Edward Behrens and Gill Bejerano and Jimmy Bennet and Beverly Berg-Rood and Bernstein, {Jonathan A.} and Berry, {Gerard T.} and Anna Bican and Stephanie Bivona and Elizabeth Blue and John Bohnsack and Carsten Bonnenmann and Devon Bonner and Lorenzo Botto and Brenna Boyd and Briere, {Lauren C.} and Elly Brokamp and Gabrielle Brown and Burke, {Elizabeth A.} and Burrage, {Lindsay C.} and Butte, {Manish J.} and Peter Byers and Byrd, {William E.} and John Carey and Olveen Carrasquillo and Chang, {Ta Chen Peter} and Sirisak Chanprasert and Chao, {Hsiao Tuan} and Clark, {Gary D.} and Coakley, {Terra R.} and Cobban, {Laurel A.} and Cogan, {Joy D.} and Matthew Coggins and {Sessions Cole}, F. and Colley, {Heather A.} and Cooper, {Cynthia M.} and Craigen, {William J.} and Crouse, {Andrew B.} and Michael Cunningham and Precilla D'Souza and Hongzheng Dai and Surendra Dasari and Mariska Davids and Dayal, {Jyoti G.} and Matthew Deardorff and Dell'Angelica, {Esteban C.} and Dhar, {Shweta U.} and Katrina Dipple and Daniel Doherty and Naghmeh Dorrani and Douine, {Emilie D.} and Draper, {David D.} and Laura Duncan and Dawn Earl and Eckstein, {David J.} and Emrick, {Lisa T.} and Eng, {Christine M.} and Cecilia Esteves and Tyra Estwick and Marni Falk and Liliana Fernandez and Carlos Ferreira and Fieg, {Elizabeth L.} and Findley, {Laurie C.} and Fisher, {Paul G.} and Fogel, {Brent L.} and Irman Forghani and Laure Fresard and Gahl, {William A.} and Ian Glass and Godfrey, {Rena A.} and Katie Golden-Grant and Goldman, {Alica M.} and Goldstein, {David B.} and Alana Grajewski and Groden, {Catherine A.} and Gropman, {Andrea L.} and Irma Gutierrez and Sihoun Hahn and Rizwan Hamid and Hanchard, {Neil A.} and Kelly Hassey and Nichole Hayes and Frances High and Anne Hing and Hisama, {Fuki M.} and Holm, {Ingrid A.} and Jason Hom and Martha Horike-Pyne and Alden Huang and Yong Huang and Rosario Isasi and Fariha Jamal and Jarvik, {Gail P.} and Jeffrey Jarvik and Suman Jayadev and Johnston, {Jean M.} and Lefkothea Karaviti and Kelley, {Emily G.} and Jennifer Kennedy and Dana Kiley and Kohane, {Isaac S.} and Kohler, {Jennefer N.} and Deborah Krakow and Krasnewich, {Donna M.} and Elijah Kravets and Susan Korrick and Mary Koziura and Krier, {Joel B.} and Lalani, {Seema R.} and Byron Lam and Christina Lam and Lanpher, {Brendan C.} and Lanza, {Ian R.} and {Christopher Lau}, C. and Kimberly LeBlanc and Lee, {Brendan H.} and Hane Lee and Roy Levitt and Lewis, {Richard A.} and Lincoln, {Sharyn A.} and Pengfei Liu and Liu, {Xue Zhong} and Nicola Longo and Loo, {Sandra K.} and Joseph Loscalzo and Maas, {Richard L.} and Macnamara, {Ellen F.} and MacRae, {Calum A.} and Maduro, {Valerie V.} and Majcherska, {Marta M.} and Bryan Mak and Malicdan, {May Christine V.} and Mamounas, {Laura A.} and Manolio, {Teri A.} and Rong Mao and Kenneth Maravilla and Markello, {Thomas C.} and Ronit Marom and Gabor Marth and Martin, {Beth A.} and Martin, {Martin G.} and Mart{\'i}nez-Agosto, {Julian A.} and Shruti Marwaha and Jacob McCauley and McCormack, {Colleen E.} and McCray, {Alexa T.} and Elisabeth McGee and Heather Mefford and {Lawrence Merritt}, J. and Matthew Might and Ghayda Mirzaa and Eva Morava and Moretti, {Paolo M.} and Marie Morimoto and Mulvihill, {John J.} and Murdock, {David R.} and Mariko Nakano-Okuno and Avi Nath and Nelson, {Stan F.} and Newman, {John H.} and Nicholas, {Sarah K.} and Deborah Nickerson and Shirley Nieves-Rodriguez and Donna Novacic and Devin Oglesbee and Stephen Pak and Timothy Schedl and Jimann Shin and Lilianna Solnica-Krezel and Jennifer Wambach",
note = "Publisher Copyright: {\textcopyright} 2021 National Society of Genetic Counselors",
year = "2022",
month = feb,
doi = "10.1002/jgc4.1451",
language = "English",
volume = "31",
pages = "59--70",
journal = "Journal of Genetic Counseling",
issn = "1059-7700",
number = "1",
}