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Over the counter genetic tests in UK ‘fail to identify 89%’ of those at serious risk


Over the counter genetic tests in the UK that assess the risk of cancer or heart problems fail to identify 89% of those in danger of getting killer diseases, a new study has found.

Polygenic risk scores are so unreliable that they also wrongly tell one in 20 people who receive them they will develop a major illness, even though they do not go on to do so.

That is the conclusion of an in-depth review of the performance of polygenic risk scores, which underpin tests on which consumers spend hundreds of pounds.

The findings come amid a boom in the number of companies offering polygenic risk score tests which purport to tell customers how likely they are to get a particular disease.

Academics at University College London (UCL) who undertook the research are warning that such tests are so flawed they should be regulated “to protect the public from unrealistic expectations” that they will correctly identify their risk of a particular disease.

The authors concluded: “Polygenic risk scores performed poorly in population screening, individual risk prediction and population risk stratification.

“Strong claims about the effect of polygenic risk scores on healthcare seem to be disproportionate to their performance.”

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Source: The Guardian, 17 October 2023

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