The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease

Abstract

While genomic sequencing (ES/GS) has the potential to diagnose children with difficult to diagnose phenotypes, the goal should be not only a diagnosis, but also to empower parents to seek next steps for their children and to emotionally manage the outcome, whether or not a diagnosis is secured. To help achieve this goal, objective measures are needed to assess the process of parental empowerment related to genome sequencing. We present the validity and reliability of the Genome Empowerment Scale (GEmS), developed using a healthcare empowerment theoretical model. To evaluate its psychometric properties, 158 parents of 117 children with an undiagnosed condition undergoing genomic sequencing completed the GEmS, measures for criterion validity and for depression and anxiety. Factor analysis resulted in a four factor solution: (a) meaning of a diagnosis; (b) emotional management of the process; (c) seeking information and support and (d) implications and planning. Reliability and validity analyses show that the GEmS has good psychometric properties. The inter‐relationships among the factors revealed a profile that may identify parents at risk for a poorer outcome who may benefit from targeted genetic counseling. The GEmS, an objective measure of parental genomic empowerment, can be utilized for future research and translational applications.

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

“…As reported previously, validation assessments of the GEmS with parents of children undergoing ES/GS for diagnostic purposes found that it had good psychometric properties (McConkie‐Rosell et al., 2019) and was consistent with the theoretical foundation of healthcare empowerment (Johnson, 2011; Johnson et al., 2012). The GEmS consists of 28 items, each evaluated on a Likert scale from 1 (low) to 7 (high).…”

“…Additionally, the complexity of the discussion for ES/GS consent is difficult to balance with specific tailoring of the genetic counseling due to psychosocial factors such as the individual's coping strategies and social support (Macnamara et al., 2019; Schmidlen et al., 2018). These findings led us to develop the Genome Empowerment Scale (GEmS) (McConkie‐Rosell et al., 2019) as patient‐reported tool to assess genomic healthcare empowerment in adult probands/parents of children with undiagnosed disorders about to undergo ES/GS.…”

“…We defined Genomic Healthcare Empowerment as follows: the 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 (McConkie‐Rosell et al., 2019). The GEmS was designed to identify malleable areas of need related to genomic healthcare empowerment process, which may be amenable to targeted genetic counseling.…”

Utility of Genetic Testing from the Perspective of Parents/Caregivers: A Scoping Review

“…While the dimensions of the GCOS (i.e., cognitive, decisional and behavioural control, emotional regulation, and hope) reflect on non-health-related benefits of genetic counselling and overlap with dimensions identified by Kohler and by our review, the measures are not specific to the impact of genetic testing, rather they are focused on the impact of genetic counselling services. Using a different theoretical underpinning than the GCOS and GOS, McConkie-Rosell et al developed the Genome Empowerment Scale (GEmS) [ 72 ]. While this tool was designed to understand parents’ perspectives on the process of empowerment in the context of genetic testing, it is administered prior to testing and does not reflect on the actual impact of test results.…”

“…For example, whether or not elements of these constructs are distinct from or overlapping with elements of clinical utility or with elements of psychosocial well-being remains contested [ 9 , 16 , 63 ]. In addition, some orient to personal and perceived utility as measures of anticipated (i.e., pre-test) value [ 72 , 73 ], some as a measure of actual (i.e., post-test) value [ 15 , 20 , 74 , 75 ], and some as a composite of both [ 16 , 17 , 70 , 71 ]. Finally, whether any one of these constructs can be applied to a range of clinical genetics settings and respondent types or whether tailored approaches are required to achieve face validity in a range of settings requires further consideration.…”