Geneticist, product manager & photographer #humangenetics #moleculardx #womenshealth #socialmedia. Opinions stated are my own. https://www.linkedin.com/in/agnieszkacaruso/
Agnes Caruso
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#eshg2026 @claucarvalho.bsky.social presenting new discoveries of large inversions in the genome in neurodevelopmental disorders, e.g. Coffin-Siris Syndrome complex rearrangement of ARID1B region #genetics #neuroscience
A final presentation by T. McVeigh about reports in cancer genetics.
#eshg2026
R-Synapse
Agnes Caruso
Reproductive carrier screening in Australia funds screening for 3 genes! if you want more, you have to pay.
#eshg2026
Do you read page 2 or the technical info on the genomic report?
#eshg2026
As a clinical geneticist how confident are you a patient would understand it? #eshg2026
The returned report needs to be clear. It unnecessarily stresses the patient or parents. From my experience, they are lucky to at least get a report.
#eshg2026
Lesson learned - read ALL of the report, provide lab with accurate & complete clinical info.
#eshg2026
Is more testing or a larger panel really the best for a patient? Not necessarily.
#eshg2026
Now a presentation from J. McGaughran on reports in rare disease.
#eshg2026
Genomic reports are not always clear. I had to explain the results to family and friends once they had received their reports, because their GP or specialist did not understand them.
#eshg2026
