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Clin Genet. 2019 Dec;96(6):521-531. doi: 10.1111/cge.13635. Epub 2019 Oct 8.

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

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Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, North Carolina.
Department of Psychiatry and Biobehavioral Sciences, UCLA Semel Institute, Los Angeles, California.
Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati School of Medicine.
Undiagnosed Diseases Network, NIH Common Fund, Bethesda, Maryland.
Department of Allied Health Sciences, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.


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.


genetic counseling; genomic sequencing; healthcare empowerment; parental perspectives; rare disorders; undiagnosed disorders


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