A new model shows that universal preventive genomic screening for multiple conditions in early adulthood could be highly cost-effective in a single-payer health care system, according to a study published Feb. 18 in Genetics in Medicine. Population screening could significantly reduce the incidence of and mortality from hereditary cancers, as well as the burden of severe childhood-onset genetic disease, compared with targeted testing, but ethical issues remain, the authors say. Up until now, most modeling of adult genetic screening has been limited to single genetic conditions in targeted, high-risk populations, rather than the general population. However, there is increasing evidence that the current model of family history- or clinical criteria–based gene testing for hereditary cancer is failing to reach many at-risk individuals. The present study combined modeling for familial cancer and preconception carrier screening for conditions that have clinical guidelines and reimbursed health services available in Australia for identified individuals or couples. The model included screening of 2,688,192 individuals (all adults aged 18 to 25 years in Australia) for pathogenic variants in BRCA1/BRCA2/MLH1/MSH2 genes, and carrier screening for cystic fibrosis (CF), spinal muscular atrophy (SMA), and fragile X syndrome (FXS), all of which have an evidence base demonstrating that early […]