Researchers at the University of Edinburgh have developed a chemical DNA test that could be used to pinpoint diseases born of genetic mutations.
The test differs from other DNA tests that use biological enzymes as reagents. Based on chemical analysis, it bypasses the need for such expensive components.
The reliance on a chemical analysis makes the test much quicker. The chemicals are also more robust and stable compounds than biological enzymes. They allow researchers to carry out tests in a wider range of temperatures.
Dr Juan Diaz-Mochon told The Journal the technology also has pre-natal applications: “There are important applications for personal medicine. A person’s genes will influence how well they react to certain treatments. The cost and effectiveness of our findings would pave the way to personalised treatment. This would increase the efficiency of pharmaceutical companies and health services.”
Enzyme-based technologies of genetic mapping cannot test for diseases that are inherited such as Down's Syndrome.
Furthermore, the current test for Down's Syndrome carries a one percent risk of abortion.
The new test could be developed to diagnose the foetus without such a risk.
Work in epi-genetics suggests that our genes are shaped by our environments. For example, what babies are fed can affect their genes. Again, this is information that enzyme-based technologies are unable to detect but that is available through chemical analysis.
Dr Diaz-Mochon also considers that one of the problems for forensic DNA analysis is inconclusive testing. He says that this research could help make those tests more conclusive and impact on the efficiency of law enforcement.
It is an area the researchers want to explore. The approach pinpoints variations in a person’s genetic code at critical points along the DNA chain.
Dr. Juan Diaz-Mochon told The Journal: “We can detect single, two, or three base mutation. Some of these mutations make individuals prone to certain diseases. However, mutations also account for ‘special’ abilities such as astounding intellectual prowess or impressive strength.”
The technology is being tested to establish whether it can map entire genomes.
If it can it will be sold to centres that undertake research on thousands of patients at a time to establish correlations between genetic sequences and proneness to disease.
The researchers are pleased at the positive results of their research so far.
Dr. Diaz-Mochon said the receipt of the first round of results was “one of the happiest days of [his] scientific career” and believes that the researchers “have made some small steps towards understanding what people are really made of.”