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Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability

Jennifer Malinowski, on behalf of the ACMG Professional Practice and Guidelines Committee, David T. Miller Md, Laurie Demmer, Jennifer Gannon, Elaine Maria Pereira, Molly C. Schroeder, Maren T. Scheuner, Anne Chun-Hui Tsai, Scott E. Hickey, Jun Shen
Genetics in Medicine , Volume 22, pp 986-1004; doi:10.1038/s41436-020-0771-z

Abstract: PurposeExome and genome sequencing (ES/GS) are performed frequently in patients with congenital anomalies, developmental delay, or intellectual disability (CA/DD/ID), but the impact of results from ES/GS on clinical management and patient outcomes is not well characterized. A systematic evidence review (SER) can support future evidence-based guideline development for use of ES/GS in this patient population.MethodsWe undertook an SER to identify primary literature from January 2007 to March 2019 describing health, clinical, reproductive, and psychosocial outcomes resulting from ES/GS in patients with CA/DD/ID. A narrative synthesis of results was performed.ResultsWe retrieved 2654 publications for full-text review from 7178 articles. Only 167 articles met our inclusion criteria, and these were primarily case reports or small case series of fewer than 20 patients. The most frequently reported outcomes from ES/GS were changes to clinical management or reproductive decision-making. Two studies reported on the reduction of mortality or morbidity or impact on quality of life following ES/GS.ConclusionThere is evidence that ES/GS for patients with CA/DD/ID informs clinical and reproductive decision-making, which could lead to improved outcomes for patients and their family members. Further research is needed to generate evidence regarding health outcomes to inform robust guidelines regarding ES/GS in the care of patients with CA/DD/ID.
Keywords: intellectual disability / exome sequencing / Congenital anomalies / Clinical genetics / Systematic Evidence Review

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