2024 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Online Supplement to Genetics in Medicine OPEN

Online Supplement to Genetics in Medicine OPEN

Pdf Summary

The document provides a summary of various research studies and initiatives in the field of genetics and genomics, covering topics such as genetic risk assessment, clinical outcomes related to specific genetic variants, and the impact of genetic markers on health conditions. Studies included evaluations of genetic risk scores in predicting uric acid levels, exploring criteria for urea cycle disorders, investigating glucose-6-phosphate dehydrogenase deficiency, and analyzing outcomes of Pompe disease screening. Furthermore, the document discusses research on genetic markers associated with insomnia in Polycystic Ovary Syndrome, studies on genetic variants in Li-Fraumeni Syndrome, and the genetic landscape of various cancers. Additional summaries focus on structural variations in human populations, neonatal lymphomas, and genetic predisposition to cancers. The document also highlights studies on genetic testing, genetic counseling, and workforce capacity in clinical genetics. Moreover, initiatives related to prenatal genetic testing, diversifying the genomics workforce, and optimizing genetic services are outlined. The studies involve innovative methodologies, the application of advanced genomic technologies, and efforts to improve diagnostic accuracy and patient care in genetic conditions across diverse populations.

Keywords

genetics and genomics

genetic risk assessment

clinical outcomes

genetic markers

health conditions

genetic risk scores

urea cycle disorders

glucose-6-phosphate dehydrogenase deficiency

Pompe disease screening

genetic testing