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

Autor: Gurasashvili J; Centre for Medical Education, School of Medicine, Cardiff University, Cardiff, UK.; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK., Silverio SA; Department of Women & Children's Health, School of Life Course & Population Sciences, Faculty of Life Sciences & Medicine, King's College London, London, UK., Hill M; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK., Peter M; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK., Stafford-Smith B; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK., Lewis C; Centre for Medical Education, School of Medicine, Cardiff University, Cardiff, UK.; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Population, Policy and Practice Department, UCL Great Ormond Street Institute of Child Health, London, UK.
Jazyk: angličtina
Zdroj: Journal of genetic counseling [J Genet Couns] 2024 Oct; Vol. 33 (5), pp. 1089-1102. Date of Electronic Publication: 2023 Nov 06.
DOI: 10.1002/jgc4.1818
Abstrakt: 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.
(© 2023 The Authors. Journal of Genetic Counseling published by Wiley Periodicals LLC on behalf of National Society of Genetic Counselors.)
Databáze: MEDLINE
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