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Genetic diagnostics boost medical science

A device that conducts combined diagnosis of DNA and related genetic material will advance tailor-made cures for many diseases. This promises to take diagnostic medicine to the next level.


The Human Genome Project (HGP) is a global scientific initiative for mapping some 25,000 genes of the human genome to help us unravel our DNA, understand disease and formulate cures. The challenge involves screening for known variations in DNA, called single nucleotide polymorphisms (SNPs), which are responsible for all the variation within the human population. Identifying SNPs and DNA together allows researchers and laboratories to zoom in on diseases and facilitate clinical diagnosis in the field. The EU-funded project 'Development of a complete integrated SNP analysis system' (Snip2Chip) worked on developing a fool-proof, easy, low-cost method to identify SNPs. It combined SNP detection with DNA extraction, purification, amplification and characterisation. This combined approach is based on electrowetting on dielectric (EWOD) actuation, a process typically used to study microfluids. The technology represents a new integrated mutation detection system to extract DNA and amplify it, enabling near-patient genetic analysis. Once it developed the technology successfully, the project team sought to commercialise the system so that accurate low-cost alternatives for this arm of DNA testing can be easily manufactured. It aimed to ensure that the system would cost under EUR 5,000 and that related individual disposable cartridges for patients would cost under EUR 10. In addition, Snip2Chip worked on optimising the device to encourage rapid manufacturing, combining its components with ready-made modules to ensure availability and precision. This is the first time that multiple SNPs can be screened directly from a blood sample. In this light, the technology is expected to play a positive role in diagnostics, gene therapy, predictive medicine and combating hereditary diseases. It will facilitate the diagnosis of predisposition to numerous conditions such as malignancies, and advance the field of pharmacogenetics (personalised, targeted pharmaceuticals). Although patent hurdles remain, this may well represent the medical diagnostic technology of the future.

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Scientific advances

9 October 2020