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![]() ![]() Whole exome sequencing (WES) is increasingly used on a clinical basis for children with heterogeneous medical presentations, with superior diagnostic yield compared with previously available molecular and cytogenetic testing. At the same time, sequencing technologies have greatly improved. Genomic chromosomal microarrays were introduced in routine genetic clinical practice by the 2000s, which has improved resolution compared with standard karyotypes significantly. The Canadian Paediatric Society (CPS) released its first statement guiding genetic testing in healthy children in 2003, posted an addendum in 2008, and comparable statements on the ethical and policy issues of genetic testing and screening in children have been published by other health organizations more recently. The first karyotype (chromosomal snapshot) was generated in the 1950s, and resolution has been improving ever since. Keywords: Genetic screening Genetic testing Paediatrics BACKGROUND Genetics is a rapidly evolving field, and this statement focuses specifically on expanded newborn screening, next generation sequencing (NGS), incidental findings, direct-to-consumer testing, histocompatibility testing, and genetic testing in a research context. This statement provides an overview of recent developments that may impact genetic testing in children. Genetic testing has progressed rapidly over the past two decades and is becoming common in paediatrics. Aideen M Moore, Julie Richer Canadian Paediatric Society Bioethics Committee
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