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精准医学在言语病理学中的新前沿:从行为基因组学中汲取的见解如何改善沟通障碍的结果。

Precision Medicine as a New Frontier in Speech-Language Pathology: How Applying Insights From Behavior Genomics Can Improve Outcomes in Communication Disorders.

机构信息

College of Health Solutions, Arizona State University, Tempe.

Department of Speech-Language-Hearing Sciences, University of Minnesota, Twin Cities, Minneapolis.

出版信息

Am J Speech Lang Pathol. 2023 Jul 10;32(4):1397-1412. doi: 10.1044/2023_AJSLP-22-00205. Epub 2023 May 5.

Abstract

PURPOSE

Precision medicine is an emerging intervention paradigm that leverages knowledge of risk factors such as genotypes, lifestyle, and environment toward proactive and personalized interventions. Regarding genetic risk factors, examples of interventions informed by the field of medical genomics are pharmacological interventions tailored to an individual's genotype and anticipatory guidance for children whose hearing impairment is predicted to be progressive. Here, we show how principles of precision medicine and insights from behavior genomics have relevance for novel management strategies of behaviorally expressed disorders, especially disorders of spoken language.

METHOD

This tutorial presents an overview of precision medicine, medical genomics, and behavior genomics; case examples of improved outcomes; and strategic goals toward enhancing clinical practice.

RESULTS

Speech-language pathologists (SLPs) see individuals with various communication disorders due to genetic variants. Ways of using insights from behavior genomics and implementing principles of precision medicine include recognizing early signs of undiagnosed genetic disorders in an individual's communication patterns, making appropriate referrals to genetics professionals, and incorporating genetic findings into management plans. Patients benefit from a genetics diagnosis by gaining a deeper and more prognostic understanding of their condition, obtaining more precisely targeted interventions, and learning about their recurrence risks.

CONCLUSIONS

SLPs can achieve improved outcomes by expanding their purview to include genetics. To drive this new interdisciplinary framework forward, goals should include systematic training in clinical genetics for SLPs, enhanced understanding of genotype-phenotype associations, leveraging insights from animal models, optimizing interprofessional team efforts, and developing novel proactive and personalized interventions.

摘要

目的

精准医学是一种新兴的干预模式,利用基因型、生活方式和环境等风险因素的知识,进行主动和个性化的干预。就遗传风险因素而言,医学基因组学领域提供了一些干预措施的例子,例如根据个体基因型量身定制的药物干预,以及对预计听力逐渐受损的儿童进行的预期指导。在这里,我们展示了精准医学原则和行为基因组学的见解如何与行为表现障碍的新型管理策略相关,特别是口语语言障碍。

方法

本教程概述了精准医学、医学基因组学和行为基因组学;改善结果的案例;以及增强临床实践的战略目标。

结果

言语语言病理学家(SLP)会遇到由于遗传变异而导致各种沟通障碍的个体。利用行为基因组学的见解并实施精准医学原则的方法包括:在个体的沟通模式中识别未确诊的遗传障碍的早期迹象,向遗传专业人员进行适当转诊,并将遗传发现纳入管理计划。患者通过更深入和更具预测性地了解自己的病情、获得更有针对性的干预措施以及了解自己的复发风险,从遗传诊断中受益。

结论

言语语言病理学家可以通过扩大其范围包括遗传学来实现更好的结果。为了推动这一新的跨学科框架向前发展,目标应包括为言语语言病理学家提供临床遗传学系统培训、增强对基因型-表型关联的理解、利用动物模型的见解、优化跨专业团队的努力以及开发新型主动和个性化的干预措施。

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