18th Meeting of the Irish Society of Human Genetics, Friday 4th September 2015
نویسندگان
چکیده
Keynote address: " Clinical Implications of 2-day whole genome sequencing of acutely ill infants " Prof. Comparative Genomic Hybridisation (CGH) Microarray has been available in Ireland to Paediatricians from the year 2011. Guidelines for investigation of infants and children with features of developmental delay, dysmorphic features and some cases of epilepsy, recommend the use of CGH Microarray as part of a series of investigations 1. Our study focused on infants and children screened over the 36 month period from July 2011 to July 2014. Any parent samples sent were excluded and data was entered anonymously on to an excel spreadsheet. Data extracted included; Patient demographics, requesting speciality and indications for testing (Global Developmental delay (GDD), Autism (ASD), Dysmorphic features, Epilepsy and other). The results showed n=303 children and infants had a microarray sent during the 36 month period chosen. Of these 248 were available for processing. Indications were 46% for Developmental delay, 22.5% for ASD, 14% for dysmorphic features and 12% epilepsy. 23% overall were returned with abnormal Microarray with 14.5% BCNV. Diagnostic yield was 7.3% overall with a 9.5% yield in GDD and 10.9% in ASD. This correlates with previous studies showing a diagnostic yield of 7.8% in GDD and 10.6% in dysmorphic children 2. In conclusion the Microarray is an investigation in limited selection of disorders and can aid clinicians in obtaining a diagnosis in previously extensively investigated children with no definitive diagnosis. Inherited cardiac conditions (ICCs) represent a significant cause of morbidity and mortality. Wide variability in expression and penetrance limit the utility of clinical cascade screening in families, whilst the role of molecular diagnosis has traditionally been hampered by the genetic heterogeneity of many ICCs. Currently, new genomic sequencing technologies are transforming the role of molecular genetic testing in ICCs, substantially increasing the diagnostic yield, allowing accurate diagnosis, risk stratification, targeted therapy and cascade molecular screening. We report selected cases from our experience with targeted gene panels coupled with next generation sequencing (NGS) in families with suspected ICC's. Advantages of NGS include the ability to comprehensively sequence large genes such as TTN and RyR2 and the ability to simultaneously sequence multiple genes implicated in disease, including genes for phenocopies, reducing the need to multiple stage testing. We illustrate the impact that targeted gene panels coupled with NGS are having on patient care with respect to ICCs, using illustrative cases of Dilated Cardiomyopathy, Catecholaminergic Polymorphic Ventricular Tachycardia …
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عنوان ژورنال:
دوره 84 شماره
صفحات -
تاریخ انتشار 2015