Reading and interpreting the genome — whole genome sequencing of patient DNA — is increasingly common in medical practice for developing and adequately deploying therapeutics. Better reading technologies have already helped to diagnose disease, genetic predispositions to disease, and even infections.7 For example, the CRISPR-Cas system is enabling the fast detection of pathogens: Cas12a has detected Hepatitis B in less than 30 minutes.8 More typically, sequencing is now possible in days to weeks.9 Costs are also falling.10
Faster, better, and cheaper diagnostics coming into the mainstream will act as a fact checker on the new generations of genome editors, detecting and preventing DNA editing errors. These technologies need to be further refined to ensure every laboratory can easily adopt them when in vivo editing becomes mainstream.
Much progress will be thanks to the new ability to do long read sequencing, which is more accurate than the previously more common usage of short read sequencing. This could identify more clinically relevant gene variants, and it could also provide epigenetic information that can bring epigenome editing closer to the clinic.11
