We're kind of like genetic nomads
Parents' experiences of biographical disruption and uncertainty following in/conclusive results from newborn cystic fibrosis screening
Bibliographic Data
| ID | 5140394 |
|---|---|
| Authors | Felicity Boardman (0000-0002-3268-6276, University of Warwick, corresponding author), C C Clark (0000-0002-1077-9383, University of Warwick) |
| Year | 2022 |
| Volume | 301 |
| Pages | 114972 |
| Publication date | 2022-05-01 |
| Peer Reviewed | Yes |
| Open Access | Yes |
| Type | ARTICLE |
| Venue | Social Science & Medicine (JOURNAL) |
| Journal identifiers | ISSN: 0277-9536 • E-ISSN: 1873-5347 |
| Publisher | Elsevier BV (PUBLISHER) |
| DOI | 10.1016/j.socscimed.2022.114972 |
| PMID | 35430463 |
| OpenAlex | W4223507013 |
| Language | EN |
| Citations received | 8 |
| References cited | 50 |
As whole genome sequencing is being considered as a tool to deliver expanded newborn screening (NBS) globally, the range of equivocal results it could produce are gaining increased attention. For cystic fibrosis (CF) screening, the use of next generation sequencing within existing UK NBS programmes would increase the number of uncertain designations returned within results, including that of Cystic Fibrosis Screen Positive Inconclusive Diagnosis (CFSPID). However, the experiences of families already living with this designation have been under-explored. This study uses in-depth interviews to explore the perspectives of sixteen parents who received positive results from CF NBS, with varying degrees of prognostic un/certainty; parents with a child diagnosed with CF (n = 6), CF carrier status (n = 3) and those with the CFSPID designation (n = 7). The biographically disruptive nature of positive NBS results-regardless of immediate relevance to the child-dominated early experiences of positive results across all groups. For those with CF, biographical reparation involved becoming 'a CF family', underscoring biological kinship bonds and reinforcing familial identity. For those with uncertain results, biographical re-calibration was more complex. Diagnostic and prognostic uncertainty posed a barrier to entry for both the 'CF world' and the 'healthy kid' world, leading parents to attempt to minimise its role, either through rejection, or re-interpretation of their child's result. Other parents, however, experienced biographical reparation more dynamically. The concept of 'genetic nomadism' captures accounts of oscillation between the two worlds; movements that were responsive to evolving health experiences, as well as social, environmental and temporal factors. Through the concept of genetic nomadism, this paper delineates both the productive, as well as divisive, nature of uncertainty for biographical reparation in the aftermath of NBS, as well as the strategies parents use to harness it, in order to successfully navigate the world with a child with an ambiguous genetic future
Certainty · Cystic fibrosis · Developmental psychology · Identity (music · Interpretation (philosophy · Kinship · Newborn screening · Sociology · Cystic Fibrosis Research Advances · Genomics and Rare Diseases · Medicine · Prenatal Screening and Diagnostics · Psychology · Internal Medicine · Pediatrics
Parents' and childrens’ views of wider genomic testing when used as part of newborn screening to identify cystic fibrosis
Preferences for Peer Support Amongst Families Engaged in Paediatric Screening Programmes
A Multicentre Italian Study on the Psychological Impact of an Inconclusive Cystic Fibrosis Diagnosis after Positive Neonatal Screening
Navigating intimate practices under the spectre of familial dementia
From Biographical Disruption to Oscillation
The embodied experience of genetic inheritance in hereditary thrombophilia
Un/Diagnosed
At the Front Stage
Qualitative research in healthcare
The Discovery of Grounded Theory
Prenatal Care Use Among Women of Low Income
Surveillance life and the shaping of ‘genetically at risk’ chronicities in Denmark
When the Cystic Fibrosis Label Does Not Fit
Parental Views on Newborn Next Generation Sequencing
It’s not if I get cancer, it’s when I get cancer
Using thematic analysis in psychology
Liminality
Postgenomics, uncertain futures, and the familiarization of susceptibility genes
Absorbing it all
A place for genetic uncertainty
A new normal
Demonstrating Rigor Using Thematic Analysis
Patients-in-Waiting
Biographical disruption, abruption and repair in the context of Motor Neurone Disease
Chronic illness as biographical disruption
Lay constructions of genetic risk
Well, I knew this already' - explaining personal genetic risk information through narrative meaning-making
Patients-in-waiting or chronically healthy individuals? People with elevated cholesterol talk about risk
Doing the right thing
The Kin in the Gene
| Unique citing works | 8 |
|---|---|
| Citations per year | 2,67 |
| Citation span | 2023 - 2025 (3) |
| Citation velocity | recent |
| Highly cited | No |
| Citation types | Neutral: 8 |