Clinical Genetic Testing: Insights from a Clinicain-Scientist in a Pediatric Neurodevelopmental Clinic

[Mississauga, ON.] Neurodevelopmental disorders is a broad umbrella term that include autism spectrum disorders, epilepsy encephalopathy, intellectual disabilities and other broader neurodevelopmental delays. The phenotypic heterogeneity is very complex due to overlapping phenotypic manifestations. Most of these conditions appear very early in development and twin studies suggest these conditions are highly genetic. Genetic tests including targeted gene panel sequencing and whole exome sequencing can identify disease associated variants. Some gene variants are causal and have diagnostic impact. Recently clinics are starting to adopt whole genome sequencing and the diagnostic yield might have an incremental effect.

 

To discuss the impact of genetic tests in the clinic, we have Dr. Marc Woodburry-Smith who is a globally renowned neuropsychiatrist and Senior Lecturer at Bioscience Institute, Newcastle University, Newcastle Upon Tyne, UK. Dr. Marc will share valuable insight about genetic tests and its impact from a perspective of a clinician and a scientist. 


Register: https://docs.google.com/forms/d/e/1FAIpQLSdlvJQIabpY6ZyG-lfgzfe7-oYomtobJTzNm9OCsE6f2bCvzw/viewform


About GenomeArc

GenomeArc Inc. is a biotech company on clinical genetics and drug discovery headquartered in Mississauga, Ontario. The company began its journey in 2021, GenomeArc develops artificial intelligence integrated solutions for genetic diagnosis and genomic drug development solutions for rare genetic disorders and pan cancer. As a research-oriented biotech company, GenomeArc brings new insights into rare diseases, cancer diagnosis, and therapeutics through genome analysis. The GenomeArc team is constantly innovating technologies to solve phenotypic complexities in genetic variations for rapid intervention. As a global company, our aim is to make efficient and accurate genome medicine technologies accessible for all healthcare systems.

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