TY - JOUR
T1 - Clinical application of a scale to assess genomic healthcare empowerment (GEmS)
T2 - Process and illustrative case examples
AU - Undiagnosed Disease Network
AU - McConkie-Rosell, Allyn
AU - Schoch, Kelly
AU - Sullivan, Jennifer
AU - Spillmann, Rebecca C.
AU - Cope, Heidi
AU - Tan, Queenie K.G.
AU - Palmer, Christina G.S.
AU - Hooper, Stephen R.
AU - Shashi, Vandana
AU - Acosta, Maria T.
AU - Adam, Margaret
AU - Adams, David R.
AU - Agrawal, Pankaj B.
AU - Alejandro, Mercedes E.
AU - Alvey, Justin
AU - Amendola, Laura
AU - Andrews, Ashley
AU - Ashley, Euan A.
AU - Azamian, Mahshid S.
AU - Bacino, Carlos A.
AU - Bademci, Guney
AU - Baker, Eva
AU - Balasubramanyam, Ashok
AU - Baldridge, Dustin
AU - Bale, Jim
AU - Bamshad, Michael
AU - Barbouth, Deborah
AU - Bayrak-Toydemir, Pinar
AU - Beck, Anita
AU - Beggs, Alan H.
AU - Behrens, Edward
AU - Bejerano, Gill
AU - Bennet, Jimmy
AU - Berg-Rood, Beverly
AU - Bernstein, Jonathan A.
AU - Berry, Gerard T.
AU - Bican, Anna
AU - Bivona, Stephanie
AU - Blue, Elizabeth
AU - Bohnsack, John
AU - Bonnenmann, Carsten
AU - Bonner, Devon
AU - Botto, Lorenzo
AU - Boyd, Brenna
AU - Briere, Lauren C.
AU - Dasari, Surendra
AU - Lanpher, Brendan C.
AU - Lanza, Ian R.
AU - Morava, Eva
AU - Oglesbee, Devin
N1 - Publisher Copyright:
© 2021 National Society of Genetic Counselors
PY - 2022/2
Y1 - 2022/2
N2 - 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.
AB - 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.
KW - exome and genomic sequencing
KW - genetic counseling
KW - healthcare empowerment
KW - parental perspectives
KW - rare disorders
KW - undiagnosed disorders
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U2 - 10.1002/jgc4.1451
DO - 10.1002/jgc4.1451
M3 - Article
AN - SCOPUS:85115250725
SN - 1059-7700
VL - 31
SP - 59
EP - 70
JO - Journal of Genetic Counseling
JF - Journal of Genetic Counseling
IS - 1
ER -