1c. Genetic Testing in Reproductive Medicine
Track 3
| Thursday, November 21, 2024 |
| 10:30 AM - 11:30 AM |
| BelleVue Ballroom 2 (Level 3) |
Details
60min sponsor education session
This session will discuss how genetic testing is integrated within a patient’s reproductive journey, with a focus on two common tests; reproductive carrier screening (RCS) and non-invasive prenatal testing (NIPT).
The aim of this session is to provide further information on these two tests, the clinical disorders they are aimed at detecting, the testing options that are available, and the performance and limitations of these tests. Practical perspectives on when to order the test, how to discuss these options with patients, pre and post-test genetic counselling will be discussed. Finally, an outline on how to manage high risk results and how to access additional educational resources will be provided.
Overall this session aims to provide the GP with further confidence in navigating this journey with their patients.
Key outcomes:
- Understanding how RCS and NIPT fit into the reproductive journey timeline
- Understanding the clinical utility of RCS and NIPT, testing options, performance and limitations
- How to discuss RCS and NIPT testing options with your patient
- The impact of family history on choosing the right test
- How to manage high risk results from NIPT and RCS
- How to access further educational material on genetic testing in pregnancy planning
This session will discuss how genetic testing is integrated within a patient’s reproductive journey, with a focus on two common tests; reproductive carrier screening (RCS) and non-invasive prenatal testing (NIPT).
The aim of this session is to provide further information on these two tests, the clinical disorders they are aimed at detecting, the testing options that are available, and the performance and limitations of these tests. Practical perspectives on when to order the test, how to discuss these options with patients, pre and post-test genetic counselling will be discussed. Finally, an outline on how to manage high risk results and how to access additional educational resources will be provided.
Overall this session aims to provide the GP with further confidence in navigating this journey with their patients.
Key outcomes:
- Understanding how RCS and NIPT fit into the reproductive journey timeline
- Understanding the clinical utility of RCS and NIPT, testing options, performance and limitations
- How to discuss RCS and NIPT testing options with your patient
- The impact of family history on choosing the right test
- How to manage high risk results from NIPT and RCS
- How to access further educational material on genetic testing in pregnancy planning
Speaker
Dr Marina Berbic
Deputy Director - Genetics
Sonic Healthcare | Douglass Hanly Moir Pathology
Genetic Testing in Reproductive Medicine: Reproductive Carrier Screening and Non-Invasive Prenatal Testing
10:30 AM - 11:30 AMBiography
Dr Marina Berbic has undergone specialist training in Genetic Pathology at Prince of Wales Hospital and Douglass Hanly Moir Pathology. She attained Fellowship of the Royal College of Pathologists of Australasia in 2020 and joined DHM in 2021. In addition to a Bachelor of Medicine / Bachelor of Surgery, she holds a Bachelor of Medical Science, a Masters in Reproductive Health and Human Genetics and a PhD in Reproductive Medicine. Dr Berbic is an Adjunct Senior Lecturer in the School of Women’s and Children’s Health at the University of New South Wales and was a member of the Mackenzie’s Mission (Reproductive Genetic Carrier Screening) Variant Review Committee.
She has a particular interest in reproductive genomics and is passionate about integrating sequencing technologies in clinical decision-making and personalised patient care.
She has a particular interest in reproductive genomics and is passionate about integrating sequencing technologies in clinical decision-making and personalised patient care.
