How Can Genome Sequencing Be Used for Patient Diagnosis?
Автор: JAMA Network
Загружено: 2025-03-19
Просмотров: 3484
Описание:
Genome sequencing can help diagnose patients with rare diseases and unexplained diseases, but many patients can’t access this genetic test. Lack of knowledge and awareness among both clinicians and patients is one of the barriers to access. Watch this video to learn about what genome sequencing is, its potential benefits and limitations, how often it leads to diagnosis, and what patient groups are more likely to benefit.
0:00 Rohan's diagnostic journey starts
1:19 What is genome sequencing
1:27 Exome sequencing vs genome sequencing
2:25 Not knowing what to expect
3:10 Short-term benefits
3:25 Long-term benefits
4:06 Diagnostic yield: how many patients get a diagnosis
4:22 Variants of uncertain significance (VUS)
4:59 Rohan receives a diagnosis
6:21 Limitations of genome sequencing
6:41 Re-analyzing genetic data
7:09 Data on utility for newborns and in NICUs
7:57 Older kids and adults could be tested more
8:16 Patients with unexplained intellectual disabilities
8:44 What patient groups are likely to benefit from testing
9:44 Barriers to access
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