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Genomics in Paediatric Healthcare Workshop

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Level 7 Auditorium

Queensland Children's Hospital

501 Stanley Street

South Brisbane, QLD 4101

Australia

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Event description
Increase your genomic literacy to confidently request and interpret genetic/genomic tests with Dr Chirag Patel (Clinical Geneticist)

About this Event

Next Generation Sequencing (NGS) technologies such as targeted panels, Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS) are revolutionising many aspects of paediatric genetic disease diagnosis, risk assessment and treatment.

This free interactive workshop, organised by Chirag Patel (Clinical Geneticist) from Genetic Health Queensland, is designed for consultant and trainee paediatricians (general and sub-speciality) at Queensland Children’s Hospital.

This workshop will:

1) Explore the impact of genomics on paediatric clinical care

2) Provide an update on genomic testing techniques (microarrays, targeted panels, WES, WGS)

3) Discuss the associated diagnostic and technical issues in genomic testing:

  • Importance of clinical phenotyping
  • Managing disease-specific gene lists
  • Variant detection and interpretation

It will be taught by the way of paediatric genetics clinical scenarios seen in clinic, with discussions on: how to address each case, clinical information required, potential genetic counselling issues, and genetic testing indications/types/reports.

The immediate outcome is to increase genomic literacy in paediatricians to then allow them to confidently request and interpret genetic/genomic tests. The long-term outcome is improved paediatric health care, with earlier and appropriate access to genomic testing in their diagnostic journey.

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Date and Time

Location

Level 7 Auditorium

Queensland Children's Hospital

501 Stanley Street

South Brisbane, QLD 4101

Australia

View Map

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