Mueller Rebecca, Lee Brittany M, Callahan Katharine Press
Department of Medical Ethics and Health Policy, University of Pennsylvania, Philadelphia, PA 19104, USA.
Masters Genetic Counseling Program, University of Pennsylvania, Philadelphia, PA 19104, USA.
Children (Basel). 2023 Mar 31;10(4):664. doi: 10.3390/children10040664.
Research on how physicians predict and communicate prognosis focuses primarily on end-of-life care. Unsurprisingly, as genomic technology gains traction as a prognostic tool, the focus has also been on terminality, with research focused on how genetic results may be used to terminate pregnancies or redirect care towards palliation for neonates. However, genomic results also have powerful impacts on how patients who live prepare for their futures. Genomic testing provides broad-reaching and early-albeit complex, uncertain, and shifting-prognostic information. In this essay, we argue that as genomic testing occurs earlier and increasingly in a screening context, researchers and clinicians must strive to understand and manage the prognostic implications of results. While our understanding of the psychosocial and communicational aspects of prognosis in symptomatic populations is incomplete, it has progressed further than our understanding in a screening context and therefore provides useful lessons and feasible opportunities for further research. By providing an interdisciplinary and inter-specialty perspective on the psychosocial and communicational aspects of prognosis in genetics, we discuss prognostication with respect to genetics from the neonatal period through adulthood, highlighting medical specialties and patient populations that are especially informative for considering the longitudinal management of prognostic information in genomic medicine.
关于医生如何预测和传达预后的研究主要集中在临终关怀方面。不出所料，随着基因组技术作为一种预后工具越来越受到关注，研究重点也放在了终末期，研究集中在如何利用基因检测结果终止妊娠或为新生儿将治疗转向姑息治疗。然而，基因组检测结果对活着的患者如何为未来做准备也有重大影响。基因组检测能提供广泛且早期的——尽管复杂、不确定且不断变化的——预后信息。在本文中，我们认为随着基因组检测越来越早地在筛查背景下进行，研究人员和临床医生必须努力理解和管理检测结果的预后影响。虽然我们对有症状人群预后的心理社会和沟通方面的理解并不完整，但比对筛查背景下的理解要深入，因此能为进一步研究提供有用的经验教训和可行机会。通过提供关于遗传学预后的心理社会和沟通方面的跨学科、跨专业视角，我们讨论从新生儿期到成年期的遗传学预后，强调对考虑基因组医学中预后信息的纵向管理特别有参考价值的医学专业和患者群体。
