Rapid re-identification of human samples using portable DNA sequencing

The human genome represents the complete set of genetic information needed to make a person. DNA sequencing technologies used to study genomes have become much faster, cheaper and more accessible over recent years. This has enabled them to be used more regularly in various fields like precision medicine, in research laboratories and forensics. Even so, there are still fields where optimization is critical. Reproducibility is an important issue in biomedical research; one group of scientists working with human cells may report results that other scientists cannot reproduce. Sometimes this is because the original work was done in the wrong type of cells by mistake. Human cells used in biomedical research are very hard to discriminate from each other using microscopes; however, DNA analysis can be used to ensure the origin of the cells. The MinION device, a USB compatible handheld DNA sequencer, has become available in the last few years. Its size, speed and portability could enable many new uses for DNA sequencing. Technology like this could be used to confirm which cells the scientists are working with before they publish their results. Yet, currently DNA readings from the MinION are not accurate enough to be used to reliably confirm the identity of human cells used in research. Zaaijer et al. have now developed an approach that can accurately identify human cells using the MinION device. The approach involves “DNA re-identification”, which works by comparing an unknown DNA sample to a collection of known DNA profiles. Using their new method, Zaaijer et al. report that, with three minutes of DNA sequencing, they can correctly identify a DNA sample, with 99.9% confidence. This is a high enough level of accuracy for the system to tell the difference between one person and another, using only their DNA. This new technology is much faster than current rapid DNA sequencing approaches. Previously, processing DNA samples could take hours or even days and was not particularly portable. The new technology has many applications from finding criminals to diagnosing illnesses and tracking epidemics. It is also an affordable way for laboratories to confirm the identity of cells they are working with. This has the potential to save billions in research funding each year and speed up scientific progress.