Agenda

Time:Topic:

12:00 PM - 12:10 PM

The Patient Voice

Majella Hickey will discuss her experience with receiving a diagnosis of a BRCA2 gene mutation, as well as the challenges experienced in the system currently getting access to testing.

12:10 PM - 12:20 PM

Genetic Testing Technology Overview

Dr Patrick Buckley will provide an overview of genetic testing technology, including next-generation sequencing methodologies, different types of tests, CNV's, SNPS, whole exome sequencing; the importance of quality when choosing a genetic test, EQA, clinical support, and genetic counselling in genetic testing.

12:20 PM - 12:40 PM

Oncology Genetic Tests Overview and the Importance of Test Quality

Dr Anders Bojesen will provide an overview of oncology genetic tests, including:

  • Oncology Genetic Tests Overview
  • Constitutional vs Somatic
  • Why order a genetic test for a patient (utility)
  • When to consider ordering a genetic test for a patient
  • Examples of when you order a test – BRCA/Lynch Syndrome, etc.
  • Case studies
  • How to order a genetic test with an overview of referral pathways
  • Managing a positive result, including genetic counselling overview

12:40 PM - 12:50 PM

The Role of Patient Support Groups Services

Bernadette Carter will guide you through how you can support your patient with a positive result and the role of patient support groups. Including the support services available from the Marie Keating Foundation.

12:50 PM - 1:00 PM

Q&A

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