Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2022 Feb;31(1):59-70.
doi: 10.1002/jgc4.1451. Epub 2021 Jun 11.

Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples

Allyn McConkie-Rosell  1 , Kelly Schoch  1 , Jennifer Sullivan  1 , Rebecca C Spillmann  1 , Heidi Cope  1 , Queenie K-G Tan  1 , Christina G S Palmer  2   3 ; Undiagnosed Disease Network  4 ; Stephen R Hooper  5 , Vandana Shashi  1
Collaborators, Affiliations

Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples

Allyn McConkie-Rosell et al. J Genet Couns. 2022 Feb.

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.

PubMed Disclaimer

Conflict of interest statement

Compliance with Ethical Standards

Conflict of Interest

Allyn McConkie-Rosell, Kelly Schoch, Heidi Cope, Jennifer Sullivan, Rebecca C. Spillmann, Khoon G. Tan, Christina G. S. Palmer, Undiagnosed Diseases Network, Stephen R. Hooper, and Vandana Shashi declare that they have no conflict of interest.

Figures

Figure 1:
Figure 1:
Confident Realist
Figure 2:
Figure 2:
Engaged But Worried Planner
Figure 3:
Figure 3:
Resigned Acceptor
Figure 4:
Figure 4:
Disengaged or Overwhelmed
See this image and copyright information in PMC

References

    1. Attard CA, Carmany EP, & Trepanier AM (2019). Genetic counselor workflow study: The times are they a-changin’? J Genet Couns, 28(1), 130–140. doi:10.1002/jgc4.1041 - DOI - PubMed
    1. Brett GR, Wilkins EJ, Creed ET, West K, Jarmolowicz A, Valente GM, . . . Macciocca I (2018). Genetic Counseling in the Era of Genomics: What’s all the Fuss about? J Genet Couns. doi:10.1007/s10897-018-0216-x - DOI - PubMed
    1. Chesney M, Neilands T, Chambers D, Taylor J, & Folkman S (2006). A validity and reliability study of the coping self-efficacy scale. Br J Health Psychol, 11(Pt 3), 421–437. doi:10.1348/135910705×53155 - DOI - PMC - PubMed
    1. Clark MM, Stark Z, Farnaes L, Tan TY, White SM, Dimmock D, & Kingsmore SF (2018). Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases. NPJ Genom Med, 3, 16. doi:10.1038/s41525-018-0053-8 - DOI - PMC - PubMed
    1. Gilissen C, Hoischen A, Brunner HG, & Veltman JA (2011). Unlocking Mendelian disease using exome sequencing. Genome Biol, 12(9), 228. doi:10.1186/gb-2011-12-9-228 - DOI - PMC - PubMed

Publication types