TY - JOUR
T1 - Precision Medicine as a New Frontier in Speech-Language Pathology
T2 - How Applying Insights From Behavior Genomics Can Improve Outcomes in Communication Disorders
AU - Peter, Beate
AU - Bruce, Laurel
AU - Finestack, Lizbeth
AU - Dinu, Valentin
AU - Wilson, Melissa
AU - Klein-Seetharaman, Judith
AU - Lewis, Candace R.
AU - Braden, B. Blair
AU - Tang, Yi Yuan
AU - Scherer, Nancy
AU - Vandam, Mark
AU - Potter, Nancy
N1 - Publisher Copyright: © 2023 American Speech-Language-Hearing Association.
PY - 2023/7
Y1 - 2023/7
N2 - Purpose: Precision medicine is an emerging intervention paradigm that lever-ages 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 phar-macological 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 com-munication 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 pur-view 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.
AB - Purpose: Precision medicine is an emerging intervention paradigm that lever-ages 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 phar-macological 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 com-munication 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 pur-view 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.
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U2 - 10.1044/2023_AJSLP-22-00205
DO - 10.1044/2023_AJSLP-22-00205
M3 - Article
C2 - 37146603
SN - 1058-0360
VL - 32
SP - 1397
EP - 1412
JO - American journal of speech-language pathology
JF - American journal of speech-language pathology
IS - 4
ER -