9:00am - 3:30pm. Reproductive Genetics in General Practice
Track 9
| Wednesday, October 25, 2023 |
| 8:00 AM - 10:30 AM |
| Meeting Room C4.10 |
Overview
Pre-conference workshop 9
Details
The workshop will cover a range of genetic testing options for GPs and their patients who are either planning a family of are already pregnant.
The workshop will include presentations on:
1. Reproductive Carrier Screening (RCS) - an overview
a. 3-gene screen
b. Expanded screen high risk result
2. Non-Invasive Prenatal Screening - an overview
a. A high-risk NIPT result
b. What resources are available to assist in provision of genetic testing
There will be a didactic 30 minutes presentation for each of these topics followed by a series of case studies and small group discussions on each of these studies.
There will be multiple opportunities for questions and comments and discussion will be encouraged both in the small groups but also during the presentation.
There will be an interactive component using group polling of 20 MCQs followed by an extensive Q & A session with the panel of presenters.
Takeaways
1. Describe what Reproductive Carrier Screening (RCS) is?
2. Identify the options available to patients, when RCS testing is performed prior to conception
3. Describe Spinal Muscular Atrophy
4. Define the biological limitations of NIPT
5. Implement appropriate follow-up confirmatory testing following a high NIPT result
1. Reproductive Carrier Screening (RCS) - an overview
a. 3-gene screen
b. Expanded screen high risk result
2. Non-Invasive Prenatal Screening - an overview
a. A high-risk NIPT result
b. What resources are available to assist in provision of genetic testing
There will be a didactic 30 minutes presentation for each of these topics followed by a series of case studies and small group discussions on each of these studies.
There will be multiple opportunities for questions and comments and discussion will be encouraged both in the small groups but also during the presentation.
There will be an interactive component using group polling of 20 MCQs followed by an extensive Q & A session with the panel of presenters.
Takeaways
1. Describe what Reproductive Carrier Screening (RCS) is?
2. Identify the options available to patients, when RCS testing is performed prior to conception
3. Describe Spinal Muscular Atrophy
4. Define the biological limitations of NIPT
5. Implement appropriate follow-up confirmatory testing following a high NIPT result
Speaker
Dr Melanie Galea
Director, Genetics
Douglass Hanly Moir Pathology
Reproductive Genetics in General Practice
Summary
The workshop will cover a range of genetic testing options for GPs and their patients who are either planning a family of are already pregnant.
The workshop will include presentations on:
1. Reproductive Carrier Screening (RCS) - an overview
a. 3-gene screen
b. Expanded screen high risk result
2. Non-Invasive Prenatal Screening - an overview
a. A high-risk NIPT result
b. What resources are available to assist in provision of genetic testing
There will be a didactic 30 minutes presentation for each of these topics followed by a series of case studies and small group discussions on each of these studies.
There will be multiple opportunities for questions and comments and discussion will be encouraged both in the small groups but also during the presentation.
There will be an interactive component using group polling of 20 MCQs followed by an extensive Q & A session with the panel of presenters.
The workshop will include presentations on:
1. Reproductive Carrier Screening (RCS) - an overview
a. 3-gene screen
b. Expanded screen high risk result
2. Non-Invasive Prenatal Screening - an overview
a. A high-risk NIPT result
b. What resources are available to assist in provision of genetic testing
There will be a didactic 30 minutes presentation for each of these topics followed by a series of case studies and small group discussions on each of these studies.
There will be multiple opportunities for questions and comments and discussion will be encouraged both in the small groups but also during the presentation.
There will be an interactive component using group polling of 20 MCQs followed by an extensive Q & A session with the panel of presenters.
Takeaways
* Describe what Reproductive Carrier Screening (RCS) is?
* Identify the options available to patients, when RCS testing is performed prior to conception.
* Describe Spinal Muscular Atrophy.
*Define the biological limitations of NIPT.
*Implement appropriate follow-up confirmatory testing following a high NIPT result.
* Identify the options available to patients, when RCS testing is performed prior to conception.
* Describe Spinal Muscular Atrophy.
*Define the biological limitations of NIPT.
*Implement appropriate follow-up confirmatory testing following a high NIPT result.
Biography
Dr Samantha Sundercombe
Genetic Pathologist
Douglass Hanly Moir Pathology
Reproductive Genetics in General Practice
9:00 AM - 3:00 PMSummary
The workshop will cover a range of genetic testing options for GPs and their patients who are either planning a family of are already pregnant.
The workshop will include presentations on:
1. Reproductive Carrier Screening (RCS) - an overview
a. 3-gene screen
b. Expanded screen high risk result
2. Non-Invasive Prenatal Screening - an overview
a. A high-risk NIPT result
b. What resources are available to assist in provision of genetic testing
There will be a didactic 30 minutes presentation for each of these topics followed by a series of case studies and small group discussions on each of these studies.
There will be multiple opportunities for questions and comments and discussion will be encouraged both in the small groups but also during the presentation.
There will be an interactive component using group polling of 20 MCQs followed by an extensive Q & A session with the panel of presenters.
The workshop will include presentations on:
1. Reproductive Carrier Screening (RCS) - an overview
a. 3-gene screen
b. Expanded screen high risk result
2. Non-Invasive Prenatal Screening - an overview
a. A high-risk NIPT result
b. What resources are available to assist in provision of genetic testing
There will be a didactic 30 minutes presentation for each of these topics followed by a series of case studies and small group discussions on each of these studies.
There will be multiple opportunities for questions and comments and discussion will be encouraged both in the small groups but also during the presentation.
There will be an interactive component using group polling of 20 MCQs followed by an extensive Q & A session with the panel of presenters.
Takeaways
* Describe what Reproductive Carrier Screening (RCS) is?
* Identify the options available to patients, when RCS testing is performed prior to conception.
* Describe Spinal Muscular Atrophy.
* Define the biological limitations of NIPT.
* Implement appropriate follow-up confirmatory testing following a high NIPT result.
* Identify the options available to patients, when RCS testing is performed prior to conception.
* Describe Spinal Muscular Atrophy.
* Define the biological limitations of NIPT.
* Implement appropriate follow-up confirmatory testing following a high NIPT result.
Biography
Dr Sara Whitburn
Clinical Education Manager
Sexual Health Victoria
Reproductive Genetics in General Practice
9:00 AM - 3:00 PMSummary
Takeaways
Biography
Dr Marina Berbic
Deputy Director - Genetics
Douglass Hanly Moir Pathology
Reproductive Genetics in General Practice
9:00 AM - 3:00 PMSummary
Takeaways
Biography
