Callahan Katharine Press, Mueller Rebecca, Joffe Steven, Skraban Cara, Spinner Nancy B, Crew Karen, Clapp Justin, Munson David, Feudtner Chris
The Children's Hospital of Philadelphia, Philadelphia, PA; Department of Medical Ethics and Health Policy, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.
Department of Medical Ethics and Health Policy, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.
Genet Med. 2025 Feb 19;27(6):101393. doi: 10.1016/j.gim.2025.101393.
Although several studies have evaluated the perspectives of parents in the neonatal intensive care unit on the utility of genetic testing in a research context and concluded with a positive appraisal, some data point to more varied perceptions.
Semistructured interviews were conducted to elicit parental beliefs about the ways in which clinical (nonresearch) genetic testing could be both helpful and harmful.
We interviewed 43 parents of 36 neonates who were recommended and either accepted or declined to participate in clinical genetic testing. Parents described 5 types of problems they believed genetic information may address, what we term problem-solving contexts: treatment, coping, parenting, prognostic, and existential contexts. Most parents consider multiple problem-solving contexts when assessing benefits, which frequently results in ambivalence.
Parents in the neonatal intensive care unit appear to be more ambivalent about the utility of genetic information than has been reflected in most recent studies. This discrepancy is likely related to our sample population, clinical rather than research methodology, which encouraged parents to discuss contexts beyond the medical field. Our findings suggest that informed pretest consent discussions and posttest counseling should encourage parents to discuss multiple problem-solving contexts. Researchers should also find ways to incorporate multiple contexts and diverse perspectives into their utility measures.
尽管有几项研究评估了新生儿重症监护病房中父母对于基因检测在研究背景下效用的看法，并得出了积极评价，但一些数据表明看法更多样化。
进行了半结构化访谈，以了解父母对于临床（非研究性）基因检测可能既有益又有害的方式的看法。
我们采访了36名新生儿的43位父母，这些新生儿被推荐并要么接受要么拒绝参与临床基因检测。父母描述了他们认为基因信息可能解决的5类问题，我们称之为解决问题的情境：治疗、应对、养育、预后和生存情境。大多数父母在评估益处时会考虑多个解决问题的情境，这常常导致矛盾心理。
新生儿重症监护病房的父母对基因信息效用的矛盾心理似乎比最近的研究所反映的更为明显。这种差异可能与我们的样本群体、临床而非研究方法有关，这促使父母讨论医疗领域之外的情境。我们的研究结果表明，检测前的知情同意讨论和检测后的咨询应鼓励父母讨论多个解决问题的情境。研究人员还应找到方法，将多个情境和不同观点纳入他们的效用衡量标准中。
