According to simulations and a study of large families presented at ASHG this week, current polygenic scores cannot accurately predict complex human traits.
A study presented at ASHG Tuesday showed that newly identified schizophrenia risk genes appear to have some overlap with genes involved in autism spectrum disorder.
The guidelines suggest researchers recontact participants when there is change in the interpretation of their genetic results that could affect medical management.
Early results from preemptive genomic testing are raising questions about the prevalence and penetrance of pathogenic variants, and who is pursuing such testing.
During the first year of the TRIDENT-2 study, 74,000 women opted for NIPT, which was switched from in-house-developed platforms to Illumina's VeriSeq in May of this year.
In the Finnish GeneRisk study, patients at high risk for heart disease were especially motivated to take action if their polygenic risk score was high.
At ASHG, researchers described how RNA sequencing can help clarify whether variants are likely to be pathogenic, improving diagnoses of genetic disorders.
The study provided whole-exome diagnostic sequencing for 106 newborns with hearing loss while also offering optional screening results for genes associated with childhood-onset conditions.
