The social value of genomic sequencing for disadvantaged families facing rare disease.
The social value of genomic sequencing for disadvantaged families facing rare disease.
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基因组测序对面临罕见疾病的弱势家庭的社会价值。
DOI：
10.1016/j.socscimed.2022.115465
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发表时间：
2022
期刊：
影响因子：
--
通讯作者：
Ackerman,SL
中科院分区：
文献类型：
--
作者：
Outram,SM;Brown,Jeh;Ackerman,SL
本研究探讨了社会弱势家庭在儿科临床基因组测序方面的父母期望和价值决策过程。通过对未确诊的身体和/或智力差异儿童的父母进行访谈和人种学观察，以寻找这些差异是否具有遗传病因，我们在正在进行的研究中探索了对基因组测序价值的期望和父母评估。我们证明了测序对父母的价值远远超出了寻找诊断结果或接受关于孩子最佳护理和治疗的规定性指导;相反，价值是由父母，临床医生和遗传顾问在整个登记和返回结果过程中共同创造的。我们的研究发现，临床医生和遗传咨询师一再强调，父母需要降低期望值，并准备等待遗传科学提供更明确的答案。与此同时，父母们的经验是，临床团队会验证父母在进行基因组测序时做出了正确的选择，无论结果如何，他们都不应该为孩子的症状负责。许多父母（尽管不是所有）的经验是，基因组科学减少或消除了他们对孩子状况的内疚感，提供了一个肯定他们是“好父母”的平台。此外，进入诊断测序的社会弱势父母并不是没有子女和孤立的，他们发现自己处于一个家庭-生物社会框架中，在这个框架中，他们是未来社会和生物权威愿景的共同伙伴。
This study explores parental expectations and value-making processes in respect to pediatric clinical genomic sequencing for socially disadvantaged families. Drawing on interviews and ethnographic observations with parents of children with undiagnosed physical and/or intellectual differences seeking to find whether these differences have a genetic etiology, we explore expectations and parental assessments of the value of genomic sequencing within the context of an ongoing research study. We demonstrate how the value of sequencing to parents goes well beyond finding diagnostic results or receiving prescriptive guidance as to the best care and treatment of their child; instead, value is co-created by parents, clinicians, and genetic counsellors throughout the enrollment and return of results process. Parents in our study found that clinicians and genetic counsellors repeatedly reenforce that parents need to lower their expectations and be prepared to wait for genetic science to provide more definitive answers. At the same time, parents experience that clinical teams validate parents for having made a good choice in their undertaking of genomic sequencing and, no matter the result, that they are not to blame for their child's symptoms. The experience of many parents (although not all) is that genomic science reduces or removes their sense of guilt for their child's condition, providing a platform that affirms them as “good parents.” Moreover, rather than being voiceless and isolated, socially disadvantaged parents who enter into diagnostic sequencing find themselves in a familial-biosocial framework wherein they are co-partners in a socially and biologically authoritative vision of the future.
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DOI：
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