Big data the future of genetic diagnostics?

More data ...? faster diagnostics for complex genetic conditions.

What is Big Data ? and how can Data help diagnose people with Neurological conditions ?

When you or your loved one is faced with a rare genetic condition that doctors are not able to easily diagnose it can be incredibly worrying and frustrating.

As a parent there may be many worries, could subsequent children could be affected? What treatment would be best? What is the prognosis for the person with the condition?

Decoding the condition can help with treatment options and planning for the future. There are now so many possible genetic conditions that in some cases providing the correct diagnosis is often a minefield of calculated guesswork and testing. Sometimes not yielding results for years at a time.

As more people are having their genes analysed the database of genes for research is growing exponentially. Each year researchers are able to use this data to find out the cause of about 250 conditions a year. People who have previously gone un-diagnosed now have a greater chance then ever before of getting answers.

Collecting the genetic data is one piece of the puzzle it still takes an analyst between 20 and 40 hours worth of time to mine the data and carefully analyse it on a case by case basis.

Some of this data analysis could be effectively automated allowing the experts to review the results of automated processes. This would free up their time and ensure that people get a faster diagnosis and and the right treatment plans in place more quickly.

With an ever growing genetic data sets accurate diagnosis could get more and more specific and fast helping millions get the answers that they need.

Technology for Good is a Community Think Tank for creating and sharing ideas that will help people living with neurological conditions live better lives. We would love you to get in touch or find out more here

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