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

TY - JOUR

T1 - The disequilibrium of hope

T2 - A grounded theory analysis of parents’ experiences of receiving a "no primary finding" result from genome sequencing

AU - Gurasashvili, Jana

AU - Silverio, Sergio A.

AU - Hill, Melissa

AU - Peter, Michelle

AU - Stafford-Smith, Bethany

AU - Lewis, Celine

N1 - Funding Information: This work was conducted by JG as part of a Masters in Genetic Counseling at Cardiff University. SAS (King's College London) is in receipt of a Personal Doctoral Fellowship from the NIHR ARC South London Capacity Building Theme [ref:‐ NIHR‐INF‐2170]. CL is funded by an NIHR Advanced Fellowship Grant (NIHR300099). All research at Great Ormond Street Hospital NHS Foundation Trust and UCL Great Ormond Street Institute of Child Health is made possible by the NIHR Great Ormond Street Hospital Biomedical Research Centre. The views expressed are those of the authors and not necessarily those of the NHS, the NIHR, or the Department of Health and Social Care. The authors would like to thank SWAN UK and in particular all the parents who participated in this study. Publisher Copyright: © 2023 The Authors. Journal of Genetic Counseling published by Wiley Periodicals LLC on behalf of National Society of Genetic Counselors.

PY - 2024/10/13

Y1 - 2024/10/13

N2 - 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.

AB - 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.

KW - Lived experience

KW - genome sequencing

KW - genetic counseling

KW - undiagnosed

KW - hope

KW - distress

KW - psychosocial

UR - http://www.scopus.com/inward/record.url?scp=85176122666&partnerID=8YFLogxK

U2 - 10.1002/jgc4.1818

DO - 10.1002/jgc4.1818

M3 - Article

SN - 1059-7700

VL - 33

SP - 1089

EP - 1102

JO - Journal of Genetic Counseling

JF - Journal of Genetic Counseling

IS - 5

ER -