Diagnosing genetic diseases is a difficult task. Biomarkers are not always identified and analysing DNA takes a considerable amount of time. But now thanks to advancements in DNA testing diseases caused by genetic changes could be detected more readily. Scientists from the University of Edinburgh say that this achievement allows integrating genetic testing into health care systems much easier.
There are three million people affected by genetic diseases in the UK alone – you can imagine how many of them there are in the world. Caring for them is rather difficult due to limitations in DNA testing. Previously it was even more difficult, but advancements in DNA sequencing technology allowed analysing genetic information in a course of several days. However, the huge volume of information after DNA sequencing leads to a hampered process, requiring a lot of expertise an energy. But this may soon change thanks to a new tool.
This new tool, which comes in a form of software, is able to detect changes that cause disease in the more than three billion letters of DNA code that make up the human genome. It used data from a database, containing information about significant changes that are causing the diseases. This software is also able to predict what will be the consequences of particular DNA changes, which will help identifying disease-causing differences that are not already linked to a known condition. All in all, this new tool should minimize the number of false diagnoses and should improve the process itself. Diseases should be diagnosed quicker and more accurately.
This new tool is freely available online. Scientists hope that it will help identifying disorders that may be caused by many different genes, for example, severe intellectual disabilities in children. It should allow healthcare systems overcoming the struggle with vast amount of data and slow analysis. Scientists say that the new software should make it easier to diagnose genetic conditions in clinical practice and in research programmes. Professor David FitzPatrick, one of the authors of the study, said: “We have developed this software to help improve access to safe, speedy and accurate diagnosis of serious genetic disease throughout the world”.
Genetic conditions are difficult to analyse and treat. Everyone’s DNA is different and small changes can make huge differences. DNA sequencing is still relatively slow, but new tools can help dealing with vast datapools in relatively short time. Hopefully, this will translate to new therapies, helping people with genetic diseases overcome health-related obstacles.
Source: University of Edinburgh