Warwick Medical School, Gibbet Hill Road, Coventry, CV4 7AL, United Kingdom.
Warwick Medical School, Gibbet Hill Road, Coventry, CV4 7AL, United Kingdom.
Soc Sci Med. 2022 May;301:114972. doi: 10.1016/j.socscimed.2022.114972. Epub 2022 Apr 12.
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.
随着全基因组测序被视为在全球范围内扩大新生儿筛查（NBS）的工具，其可能产生的不确定结果范围引起了越来越多的关注。对于囊性纤维化（CF）筛查，在英国现有的 NBS 计划中使用下一代测序将会增加结果中不确定指定的数量，包括囊性纤维化筛查阳性不确定诊断（CFSPID）。然而，已经有此类指定结果的家庭的经验还没有得到充分的探索。本研究使用深入访谈来探讨 16 位父母的观点，这些父母从 CF NBS 中获得了不确定程度不同的阳性结果；其中 6 位父母的孩子被诊断患有 CF，3 位父母为 CF 携带者，7 位父母为 CFSPID 指定结果。无论与孩子的直接相关性如何，阳性 NBS 结果的传记破坏性——在所有组中都主导着阳性结果的早期经历。对于那些患有 CF 的人来说，传记修复涉及成为“CF 家庭”，强调生物亲缘关系，并加强家庭身份。对于那些有不确定结果的人来说，传记重新校准则更加复杂。诊断和预后的不确定性对“CF 世界”和“健康孩子的世界”都构成了进入的障碍，导致父母试图通过拒绝或重新解释他们孩子的结果来尽量减少其作用。然而，其他父母则更动态地经历了传记修复。“遗传游牧主义”的概念捕捉到了在这两个世界之间的波动，这些波动是对不断变化的健康经验以及社会、环境和时间因素的响应。通过遗传游牧主义的概念，本文描绘了 NBS 后传记修复中不确定性的生产性和分裂性本质，以及父母为了成功驾驭一个具有模糊遗传未来的孩子的世界而使用的策略。
