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Wednesday 18 July 2012

Crowd-funded sequencing

Even if the cost of DNA sequencing is falling rapidly, it's still unaffordable to sustain WES for every single subject with a rare syndrome but without an obvious molecular diagnosis. As usual with rare disorders, family find difficulties even in engage in research project, since a single case pathology don't create enough interest.
Families remain stucked with a close relative suffering a debilitant condition and the idea that the only thing preventing them from getting the diagnosis is money. Luckly sometimes people can surprise you with generosity. With internet technology you can reach thousands of people in an instant and provide the sum needed for a WES became really easy.
This is called crowd-funding and this story of a 4-year-old child sequenced and apparently (results have not yet been released) diagnosed by WES analysis paied with people donations shows that it can be an effective solution. In fact also some associations use this method to provide sequencing to family with a relative affected by an undiagnosed rare syndrome. Even if this approach raise some concerns on genome data privacy and scientific testing of the results, it is good to see what good people can do together even in the sequencing field.

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