deCODE Diagnostics’s DNA Test

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Here’s more information on the online DNA test that was in a previous post. I went to look up their website, the deCODE Diagnostic company.

Headquartered in Reykjavik, Iceland, deCODE is a biopharmaceutical company applying its discoveries in human genetics to the development of drugs and diagnostics for common diseases.

So they’re offering 3 tests, deCODE T2, which gauges risk of type 2 diabetes; deCODE AF, for atrial fibrillation; and deCODE MI, for myocardial infarction.

deCODE T2™ is a reference laboratory test to detect a version of a single SNP (single nucleotide polymorphism) – a one letter variation in the sequence of the genome – in a gene called TCF7L2 that deCODE has linked to increased risk of T2D. In deCODE’s findings, published in 2006 and which have since been validated in studies by independent researchers in tens of thousands of people from populations around the globe, between 8-11% of the general population have been shown to carry two copies of the risk variant, but approximately twice that number of type 2 diabetics.

In other words, SNP in TCF7L2 gives you double the statistical probability of striking lottery in this disease.

What is deCODE MI™?
deCODE MI™ is a reference laboratory DNA test for assessing an inherited risk factor for MI. The test detects versions of markers called SNPs (single nucleotide polymorphisms) – a one letter variation in the sequence of the genome, more specifically on chromosome 9p21 – that deCODE has linked to increased risk of coronary heart disease and MI.

The risk variants are the “G” allele of SNP rs10757278 and the “C” allele in SNP rs1333049 located in the vicinity of the tumor suppressor genes CDKN2A and CDKN2B on chromosome 9p21. These proteins play a critical role in regulating cell proliferation, cell aging and the associated degeneration, and the programmed cell death of many cell types. These are all important features of atherogenesis or plaque formation in vessels, the underlying cause of coronary heart disease and MI. Despite their vicinity to theses genes, the mechanism whereby the genetic variants exert their effects in the pathogenesis of MI remains to be elucidated.

What is this test based on?
The test is based on the results of a deCODE’s study, published in Science in June 2007, and the validation by several studies of independent researchers in thousands of people, which showed that 20-22% of the general population are carriers of two copies of the MI risk variant, but approximately twice that number in patients suffering early MI (< 50 years for males and < 60 for females). In other words, having two copies of the risk variants – a positive result for the deCODE MI™ test – has been shown to correspond to an approximate 2 fold increase in likelihood of early onset MI. A positive test appears to correspond to a 1.6 fold risk of MI in general. The risk variants tested for by deCODE’s MI test are located in the vicinity of the tumor suppressor genes CDKN2A and CDKN2B on chromosome 9p21.

In other words, the test for MI is the same, also a doubled statistical probability of striking lottery.

I went to take a look at their Science paper on MI [Science 316(5830) 1491-1493]. So the company did a genome study on Icelandic and some American people, some statistical analysis and then gets this relative risk value. Somebody wrote back to criticise their relative risk reporting [Science 317(5843)1322-1324], highlighting the difference between absolute risk and relative risk.

Come on, just one or two SNPs, how much good can it do? Anyway it’s only for a few groups of ppl of ‘European descent’.

‘However, as the relative risks are not extremely high, it explains only a small fraction of the familial clustering of the disease and would not generate large linkage scores. Hence, other susceptibility variants remain to be identified and some could be located in candidate regions identified by genome-wide linkage scans…The mechanism whereby the genetic variants exert their effects in the pathogenesis of MI remains to be elucidated.’ [Science 316(5830) 1491-1493]

and they don’t even know how it works

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anyway you can go to this website/company DNAdirect, which offers many tests from many companies. They can send you a kit for you to take a cheekswab, and then send it back to them for testing. *shakes head*