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How Can Genome Sequencing Be Used for Patient Diagnosis?
JAMA Network
248K subscribers • 5 videos on Rounds • Health institution
- Published by JAMA Network, one of the health institutions Rounds lists. Nobody has recommended it in the communities yet, so it ranks below community picks.
Assumes interest and some biology. Education, not medical advice.
5.1K views1 year ago
Clinical medicineEvidence and public healthGenetics and genomicsDiagnosis and clinical reasoning
How genome sequencing is used to diagnose rare and unexplained diseases, including its clinical benefits, limitations, and diagnostic yield.
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. Rohan's diagnostic journey starts What is genome sequencing Exome sequencing vs genome sequencing Not knowing what to expect Short-term benefits Long-term benefits Diagnostic yield: how many patients get a diagnosis Variants of uncertain significance (VUS) Rohan receives a diagnosis Limitations of genome sequencing Re-analyzing genetic data Data on utility for newborns and in NICUs Older kids and adults could be tested more Patients with unexplained intellectual disabilities What patient groups are likely to benefit from testing Barriers to accessWhy it's here
From a health institutionJAMA Network is on Rounds' list of health institutions, and this upload is one of its most-watched lectures or explainers. Nobody has recommended it in the communities yet, so it ranks below community picks.