3 ms·
Rare disease diagnosis, newborn screening, molecularly targeted cancer therapies… We’re starting to get some good utility from sequencing. Currently whole exom
by mbreese 4y ago
Rare disease diagnosis, newborn screening, molecularly targeted cancer therapies…
We’re starting to get some good utility from sequencing. Currently whole exome is more informative than whole genome. But, there are definitely some good clinical uses!
- sacul 4y agoMy daughter has a rare genetic disorder, cardiofaciocutaneous syndrome (CFC), and it was not until 2 years in that we were able to get a diagnosis after a whole gene sequence. It was game-changing to get the diagnosis, because it connected a to a community and to doctors who could help. https://rarediseases.info.nih.gov/diseases/9146/cardiofaciocutaneous-syndrome https://rarediseases.info.nih.gov/diseases/9146/cardiofacioc...