Can I submit my genome to this? It's hg19. Would be interesting to see what it finds with real vs fake phenotypes, what carrier variants are reported, etc
ACD is devastating and insidious. Every baby admitted to the NICU, even for minor breathing issues, should get a rapid genome.
That said, it’s notoriously difficult to call these types of causal microdeletions, outside of a few known ones. Any insights you make on those efforts would advance the field quite a bit.
Unsurprisingly, I have seen similar trends in other fields like medicine where LLM-powered tools are adopted. One has to have the knowledge to recognize hallucinations and effectively leverage these tools.
Largely agree w article. However I think it's important to mention that there are other validated ways to detect abuse and that clinical decision making is, or at least should be, based on multiple lines of evidence. Especially with abuse.
In ED and clinic I have had kids that screened positive for TEN 4 FACESp (see https://jamanetwork.com/journals/jamanetworkopen/fullarticle...). One of these babies ended up having b/l subdurals, likely abuse. In the end they may have called that "shaken baby", however there were multiple other red flags, the subdurals was only one piece, and the suspected mechanism of the subdurals was repeated drops / falls.
Agreed "shaking" may not be the mechanism but the author lists other mechanisms that can lead to subdurals and retinal hemorrhage where NAT could play role, eg hypoxia via choking, repeated falls from pushing/drops, neglect in unsafe motor vehicle situations.