Рет қаралды 361
The practice of genetic testing in ALS has been impacted by high patient demand for testing, sponsored testing programs, and a new drug application to the FDA for the first gene-targeted therapy in ALS. However, many challenges exist, including few genetic counselors in ALS clinics, and issues with laboratory methods and reporting. Jennifer Roggenbuck, MS, CGC will present new evidence-based, consensus guidelines for genetic counseling and testing in ALS, a project sponsored by the ALS Association.
Time Stamps
0:00 - 4:08 Introduction to the Les Turner ALS Foundation
6:56 - 7:47 Jennifer Introduction
7:48- 8:41 Objectives/ Agenda
8:42- 10:14 Why genetic counseling and testing in ALS is important
10:15 -11:21 What is the chance I will test positive for an ALS genetic variant
11:22 -12:24 What is sporadic ALS
12:25- 14:11 What is familial ALS
14:12- 15:41 How do I know if I have sporadic or familial ALS?
15:42 - 17:44 Pros and cons of genetic testing
17:45- 19:47 Most common ALS genes
19:48- 22:33 The most common gene history and explanation
22:34- 23:43 The impact of geoancestry
23:44- 25:05 Emergence of gene therapy in ALS
25:06 - 26:58 The need for guidelines in genetic testing and counseling in ALS
26:59- 29:34 Developing guidelines
29:35 - 31:24 Results
31:25 - 38:13 spheres of testing and summary
38:14-40:48 Key information to know from your test
40:49- 41:53 Questions about your results
41:54 -43:21 Challenges and limitations
43:22 -44:37 Expert panelists and acknowledgments/ conclusion
44:38 - 1:02:08 Q & A