Pregnancy and reproductive health: Reproductive carrier screening: making it work in your practice
Track 7
| Friday, November 25, 2022 |
| 12:25 PM - 1:25 PM |
| Meeting Room 219 |
Details
Session style: Presentation with Q&A
Speaker
Dr Marina Berbic
Deputy Director of Genetics, Genetic Pathologist
Douglass Hanly Moir Pathology, Sonic Healthcare
Reproductive carrier screening: making it work in your practice
11:55 AM - 12:55 PMSession summary
Participants at the workshop will learn what information and options about reproductive carrier screening (RCS) must be provided, and how to achieve that goal in their practice.
Learning outcomes
1. Pre-test counselling and addressing challenges in providing information about the purpose, scope, cost and outcomes of different carrier screening options
2. Options for screening: basic RCS (e.g. testing for CF/SMA and FXS only) versus expanded carrier screening (including 100s of genes)
3. Testing pathways: sequential testing versus testing both members of the couple at the same time
4. Molecular mechanisms, importance of obtaining information related to family history and understanding test limitations
5. Becoming familiar with resources available to assist with provision of RCS, including exposure to an online educational tool developed for patients.
2. Options for screening: basic RCS (e.g. testing for CF/SMA and FXS only) versus expanded carrier screening (including 100s of genes)
3. Testing pathways: sequential testing versus testing both members of the couple at the same time
4. Molecular mechanisms, importance of obtaining information related to family history and understanding test limitations
5. Becoming familiar with resources available to assist with provision of RCS, including exposure to an online educational tool developed for patients.
Biography
Dr Marina Berbic is a Genetic Pathologist and a Deputy Director of Genetics with Douglass Hanly Moir Pathology (DHM). She is a Fellow of the Royal College of Pathologists of Australasia. In addition to a Bachelor of Medicine/Bachelor of Surgery, she holds 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 a Visiting Staff Specialist with NSW Health Pathology, Randwick. She has a particular interest in reproductive genomics and is passionate about integrating sequencing technologies in clinical decision-making and personalised patient care.
Ms Belinda Dopita
Genetic Counsellor
Sonic Genetics, Sonic Healthcare
Reproductive carrier screening: making it work in your practice
11:55 AM - 12:55 PMBiography
Belinda Dopita is an HGSA certified Genetic Counsellor with a Master’s degree in Genetic counselling. She has over 20 years of clinical experience in both the public and private settings and has practiced in the USA and Australia. With a background in psychology and counselling, she has a special interest in pre-pregnancy genetic screening and prenatal diagnosis. Belinda provides genetic counselling for high risk Sonic Genetics patients Australia-wide. She is the outgoing ACT state representative for the Australian Society of Genetic Counsellors and has a long history of service with the Human Genetic Society of Australasia.
