The disequilibrium of hope: A grounded theory analysis of parents' experiences of receiving a "no primary finding" result from genome sequencing

Gurasashvili, Jana, Silverio, Sergio A ORCID: 0000-0001-7177-3471, Hill, Melissa, Peter, Michelle, Stafford-Smith, Bethany and Lewis, Celine (2024) The disequilibrium of hope: A grounded theory analysis of parents' experiences of receiving a "no primary finding" result from genome sequencing JOURNAL OF GENETIC COUNSELING, 33 (5). pp. 1089-1102. ISSN 1059-7700, 1573-3599

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Abstract

Genome sequencing (GS) has the potential to reduce the “diagnostic odyssey” that many parents of children with rare undiagnosed conditions experience. While much research has considered the impact of receiving a diagnostic result, research has rarely focused solely on the impact of receiving a “no primary finding” (NPF) result. This study aimed to investigate the experience of parents of children with rare and undiagnosed conditions following an NPF result from GS. Nine parents whose child had an NPF result from GS were recruited through the social media platform of the charity SWAN (Syndromes Without A Name) UK. Semi-structured telephone interviews were conducted, transcribed verbatim, and analyzed using grounded theory. Analysis led to the emergence of two main themes. The first theme “Striving to Solve the Unsolved Puzzle” concerned the experience of striving to end the “diagnostic odyssey.” The second theme “Navigating Hope, Lost then Found” plots the trajectory of hope raised by the promise of a new technology, dashed by the NPF, and the eventual return of small and distant hope for the future. Taken together, these themes allowed for a proposed theory: “The Disequilibrium of Hope,” which highlights the dynamic and modifiable experience of hope participants experience in their GS journey. These results suggest GS can be an emotional rollercoaster for parents. While hope plays an important role in coping with the day-to-day life of living with a rare disease, careful management of expectations from GS is important during pre-test counseling, and continued follow-up and support are needed beyond result disclosure. An understanding of the disappointment and distress caused by an NPF result is valuable for healthcare professionals in this field to ensure counseling can be tailored. Further research should consider how to support parents after an NPF result.

Item Type:	Article
Uncontrolled Keywords:	distress, genetic counseling, genome sequencing, hope, lived experience, psychosocial, undiagnosed
Depositing User:	Symplectic Admin
Date Deposited:	12 Aug 2024 15:16
Last Modified:	16 Jun 2026 20:04
DOI:	10.1002/jgc4.1818
Open Access URL:	https://doi.org/10.1002/jgc4.1818
Related Websites:	Author Publisher
URI:	https://livrepository.liverpool.ac.uk/id/eprint/3183611
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