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Gene tests for diseases questioned

Questions over tests for diseases that involve genetic assessments have been raised by Professor Nilesh Samani, British Heart Foundation chair of cardiology at the University of Leicester.

He said the tests have not yet undergone rigorous testing, and clinical trials are urgently needed to validate their ability to assess someone's risk of developing diseases including heart disease, stroke, diabetes and cancer.

The experimental tests, or genetic markers, use technology known as Genome-Wide Association Studies (GWAS). This involves scanning the entire genome to pinpoint key differences in the DNA likely to contribute to a certain disease.

Professor Samani said: "Even a battery of 5-10 genetic markers for the disease is unlikely to be sufficient to tell the patient whether they will actually develop the disease, when they will develop it, or whether lifestyle changes could prevent them from developing it.

"On the other hand, since having a 'low' risk variant of a gene doesn't mean 'no' risk, there is a real danger that some patients might gain a false sense of security."

He was giving a talk on the topic at the annual meeting of the British Society for Human Genetics (BSHG) at the University of York.

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Genome-Wide Association Studies