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J Genet Couns. 2018 Sep;27(5):1087-1101. doi: 10.1007/s10897-018-0228-6. Epub 2018 Mar 1.

Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases Network.

Author information

1
Department of Psychiatry and Biobehavioral Sciences, UCLA Semel Institute, 760 Westwood Plaza, Room 47-422, Los Angeles, CA, 90095, USA. cpalmer@mednet.ucla.edu.
2
Department of Human Genetics, UCLA, Los Angeles, CA, USA. cpalmer@mednet.ucla.edu.
3
Institute for Society and Genetics, UCLA, Los Angeles, CA, USA. cpalmer@mednet.ucla.edu.
4
Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.
5
Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
6
The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.
7
Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
8
Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.
9
Department of Human Genetics, UCLA, Los Angeles, CA, USA.
10
Institute for Society and Genetics, UCLA, Los Angeles, CA, USA.
11
Department of Biostatistics, UCLA, Los Angeles, CA, USA.
12
Department of Biomathematics, UCLA, Los Angeles, CA, USA.
13
Department of Medical Genetics, Massachusetts General Hospital for Children, Boston, MA, USA.
14
Department of Pediatrics, UCLA, Los Angeles, CA, USA.
15
Division of Medical Genetics and Genomic Medicine, Vanderbilt University, Nashville, TN, USA.

Abstract

The burden of living with an undiagnosed condition is high and includes physical and emotional suffering, frustrations, and uncertainty. For patients and families experiencing these stressors, higher levels of empowerment may be associated with better outcomes. Thus, it is important to understand the experiences of patients with undiagnosed conditions and their families affected by undiagnosed conditions in order to identify strategies for fostering empowerment. In this study, we used the Genetic Counseling Outcome Scale (GCOS-24) to assess levels of empowerment and support group participation in 35 adult participants and 67 parents of child participants in the Undiagnosed Diseases Network (UDN) prior to their UDN in-person evaluation. Our results revealed significantly lower empowerment scores on the GCOS-24 in adult participants compared to parents of child participants [t(100) = - 3.01, p = 0.003, average difference = - 11.12, 95% CI (- 3.78, - 18.46)] and no significant association between support group participation and empowerment scores. The majority of participants (84.3%, 86/102) are not currently participating in any support groups, and participation rates were not significantly different for adult participants and parents of child participants (11.4 vs. 19.7%, respectively, FE p = 0.40). Open-ended responses provided additional insight into support group participation, the challenges of living with undiagnosed conditions, and positive coping strategies. Future research will evaluate the extent to which empowerment scores change as participation in the UDN unfolds.

KEYWORDS:

Empowerment; Genetic counseling; Support groups; Undiagnosed condition; Undiagnosed disease

PMID:
29497923
PMCID:
PMC6132569
DOI:
10.1007/s10897-018-0228-6
[Indexed for MEDLINE]
Free PMC Article

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