The genetics of developmental disorders. Issue 10 (October 2019)

• Record Type: Journal Article
• Authors: Radford, Elizabeth J.; Firth, Helen V.
• Is Part Of: Paediatrics and child health. Volume 29:Issue 10(2019)
• Page Start: 422
• Page End: 430
• Publication Date: 2019-10
• Subjects: consent -- data security -- developmental disorder -- ethics -- exome -- genetic -- genetic testing -- genomic -- next-generation sequencing -- whole-genome sequencing; Pediatrics -- Periodicals; Pediatrics -- Periodicals; Pédiatrie -- Périodiques; 618.920005
• DOI: 10.1016/j.paed.2019.07.002
• Languages: English
• ISSNs: 1751-7222

Abstract

Abstract: Children with developmental disorders often have complex health needs and require frequent input from many different paediatric services. Genomic technologies have revolutionised how these disorders are diagnosed and have real potential to transform the management of previously intractable paediatric conditions. For paediatricians to fully harness these benefits for their patients, and to work productively with their clinical genetics colleagues within the multi-disciplinary team, they must be genomically literate and aware of the technical and ethical challenges. In this review article, we summarise the current understanding of the genetic architecture of developmental disorders; discuss the different types of genetic tests currently available, their strengths and limitations in clinical practice; and discuss the challenges and future opportunities in paediatric genomic medicine.