Stephen F Kingsmore, Martin Delatycki
Recent progress in genomic sequencing, bioinformatics, cloud computation, and artificial intelligence is advancing a more mature understanding of the architecture of childhood genetic diseases. This knowledge and these technologies are enabling expanded genomic screening of infant and reproductive adult populations. With many new disease-modifying and curative therapies in development and approval processes, there exists unparalleled opportunity to identify, treat, and decrease the population burden of genetic disease and transform medical genetics. Broad implementation of genomic population screening, however, requires investments for overcoming remaining evidence gaps and operational challenges, and for delivery in a sustainable manner that is acceptable to parents, prospective parents, and physicians.