Journal of speech, language, and hearing research : JSLHR · 2025
Translating the Power of Precision Medicine Into the World of Communication Disorders.
СтатьяОбзорПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Peter Beate, Davis Jennifer, Bruce Laurel, Finestack Lizbeth, Kornelis Miriam, Eng Linda, Kim Yookyung, Scherer Nancy, Potter Nancy, VanDam Mark, Thompson Lauren, Loveall Susan, Stoel-Gammon Carol, Raaz Caitlin, Armstrong-Heimsoth Amy, Buckley Sue
Аннотация
PURPOSE: Precision medicine is an emerging approach to medical diagnostics, prognostics, and intervention that takes an individual's genetic, environmental, and lifestyle-related profile into account to improve outcomes in medical conditions such as diabetes and cancer. Here, we explore how principles of precision medicine can be leveraged in the field of speech-language pathology.
METHOD: We reviewed the literature and report the following: (a) brief introduction to precision medicine, (b) review of a prophylactic intervention for infants at a genetic risk for speech/language disorders, (c) potential approaches to leveraging endophenotypes for individualized interventions in dyslexia, and (d) identified barriers and opportunities for incorporating precision medicine more broadly into the field of communication sciences and disorders.
RESULTS: An established example of a prophylactic intervention based on known genotype-phenotype associations is Babble Boot Camp (BBC), a novel personalized and proactive intervention designed to foster precursor and early communication skills of infants at a predictable genetic risk. We describe a successful clinical trial of BBC for infants at a genetic risk due to classic galactosemia and pilot trials for infants with Down syndrome. An experimental example of personalization is addressing the information processing mode shared by some individuals with dyslexia, namely, diminished sensory gating.
CONCLUSIONS: To implement principles of precision medicine in disorders of spoken and written communication more broadly, novel ways of identifying young children at risk are needed. As more genotype-phenotype discoveries and gene therapies come online, training in genetics can equip clinicians to recognize signs of a genetic disorder, make appropriate referrals, and personalize therapeutic approaches.
METHOD: We reviewed the literature and report the following: (a) brief introduction to precision medicine, (b) review of a prophylactic intervention for infants at a genetic risk for speech/language disorders, (c) potential approaches to leveraging endophenotypes for individualized interventions in dyslexia, and (d) identified barriers and opportunities for incorporating precision medicine more broadly into the field of communication sciences and disorders.
RESULTS: An established example of a prophylactic intervention based on known genotype-phenotype associations is Babble Boot Camp (BBC), a novel personalized and proactive intervention designed to foster precursor and early communication skills of infants at a predictable genetic risk. We describe a successful clinical trial of BBC for infants at a genetic risk due to classic galactosemia and pilot trials for infants with Down syndrome. An experimental example of personalization is addressing the information processing mode shared by some individuals with dyslexia, namely, diminished sensory gating.
CONCLUSIONS: To implement principles of precision medicine in disorders of spoken and written communication more broadly, novel ways of identifying young children at risk are needed. As more genotype-phenotype discoveries and gene therapies come online, training in genetics can equip clinicians to recognize signs of a genetic disorder, make appropriate referrals, and personalize therapeutic approaches.