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• W2478045111 abstract "Establishing a genetic diagnosis has always been interesting and exciting. It could just be a spot diagnosis of a rare genetic syndrome, suspecting a neurodegenerative disorder on MRI findings or interpreting a complex karyotype. Earlier with limited availability and access to genetic diagnostic testing, though life was simpler, a significant proportion of patients remained Bidiopathic^ or undiagnosed. In the post genomic era medical genetics has come a long way and the advances in technology have brought about a tremendous change in its office practice. Genetic diagnosis no longer is confined only to clinical examination, karyotyping, neuroimaging, screening for metabolic disorders and few targeted molecular tests. Investigations have become more sophisticated and exploratory, as many high-end technologies are easily available almost over the counter. This statement does not in any way undermine the importance of a detailed phenotypic evaluation and adjunct baseline testing to establish a set of differential diagnosis even in this new era. No high-end technology and tests can ever replace the brainpower and experience of a clinician. Investigations add on to confirm a suspected diagnosis. Moreover these newer tests, though now available, are very expensive and difficult to interpret at times, emphasizing the importance of a detailed clinical evaluation and narrowing down the clinical possibilities before ordering any of these newer investigations propagated as Bumbrella tests^. The excitement and curiosity (that is natural) to establish a conclusive diagnosis (that is not always possible) often overpowers the known and unknown challenges ahead that are only conceived when the test results are in hand. Thus it is imperative for the physician to understand the test being ordered, its limitations, the implications and the importance of pre and post test counseling. The diagnostic armamentarium has expanded from karyotyping to chromosomal microarray and from single gene testing to Next Generation Sequencing (NGS) used for a panel of genes, clinical exome, whole exome and whole genome sequencing.While it looks fascinating and promises to answer all patient related queries, practically we now appreciate that we are far from this. The vast array of available genetic tests poses a challenge not only for a pediatrician, but at times even for a clinical geneticist. It may be difficult at times to decide that which is the most appropriate test in a particular clinical setting. Also interpretation of some of the ambiguities of the analysis, and finally, communication of these uncertainties to the families is quite challenging [1]. To keep pace with and utilize these fast emerging genetic technologies appropriately, a minimum basic genetic knowledge is required for all clinicians, especially pediatricians, in whose ambit many genetic diagnostic challenges lie. They particularly are the ones likely to order and interpret genetics test results [2]. This is the current scenario in India as well, with all the advanced genetic tests being propagated by companies in the absence of adequately trained genetic counselors and clinicians to guide patients and families about the appropriate test, its utility and limitations. These newer technologies are useful in some common situations of uncertain genetic etiology like autism and idiopathic intellectual disability, and also for disorders with a definite mendelian inheritance but extensive genetic heterogeneity (e.g., deafness and retinitis pigmentosa), very large genes (e.g., cystic fibrosis, hemophilia, neurofibromatosis) or * Madhulika Kabra madhulikakabra@hotmail.com" @default.
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• W2478045111 date "2016-08-11" @default.
• W2478045111 modified "2023-09-29" @default.
• W2478045111 title "Editorial: New Horizons in Genetic Diagnosis in Pediatric Practice: The Excitement and Challenges!" @default.
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• W2478045111 doi "https://doi.org/10.1007/s12098-016-2204-1" @default.
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