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This is a fantastic paper
https://ja.ma/39krtFO
Martin et al examined for 92,455 individuals:
- exome sequencing data for 31 pathogenic, recurrent CNVs,
- electronic health record data (EHR)
https://ja.ma/39krtFO
Martin et al examined for 92,455 individuals:
- exome sequencing data for 31 pathogenic, recurrent CNVs,
- electronic health record data (EHR)
0.8% (n = 708) had one of the 31 CNVs
61.6% (n = 436) of CNV carriers female
Most prevalent:
- CNV - 22q11.2dup
- deletion - 16p13.11del
28.8% CNV carriers had a neuropsych disorder EHR code (13.3% CNV noncarriers). Rose to 66.4% (vs 54.6%) when depression and anxiety added in.
61.6% (n = 436) of CNV carriers female
Most prevalent:
- CNV - 22q11.2dup
- deletion - 16p13.11del
28.8% CNV carriers had a neuropsych disorder EHR code (13.3% CNV noncarriers). Rose to 66.4% (vs 54.6%) when depression and anxiety added in.
13.3% CNV carriers had a congenital malformation (vs 7.4% noncarriers). Commonest were cardiac defects.
BUT - hardly any CNV carriers had a genetic diagnosis (5.8%).
BUT - hardly any CNV carriers had a genetic diagnosis (5.8%).
They selected 9 CNVs for disclosure (280 individuals).
77.1% had a relevant neuropsych or congenital malformation EHR code.
8.6% had a known genetic diagnosis.
77.1% had a relevant neuropsych or congenital malformation EHR code.
8.6% had a known genetic diagnosis.
121 individuals replied to invites.
Participants were overall positive/neutral about experience.
Expressed relief + satisfaction at having medical explanation.
CNV results reassured them - their neuropsych history not their fault.
Several said they wished they had known earlier.
Participants were overall positive/neutral about experience.
Expressed relief + satisfaction at having medical explanation.
CNV results reassured them - their neuropsych history not their fault.
Several said they wished they had known earlier.
This is important work. Martin et al's results reinforce that individuals who carry these CNVs are at a markedly increased risk of neuropsychiatric disorders and congenital malformations, and show us that the clues as to their CNV carrier status are in their notes.
As they mention in their discussion, there are broader benefits to finding out your genetic results beyond medical management implications (which might be few) - individuals may find results valuable in the personal/social aspects of their lives. And these benefits can affect...
an individual's decisions wrt health, family, seeking support. Participants in their study felt reassured that they were not at fault for their illness and validated their experiences.
Anyway, I'm going to stop here. I know I harp on about it a lot but, as rare as pathogenic CNVs are, they are important for the individuals who carry them (and cumulatively they actually aren't that rare at all!). @clesemartin et al's work is superb and I wish I had done it.
