Frequently Asked Questions

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 these genes, the mechanism whereby the genetic variants exert their effects in the pathogenesis of MI remains to be elucidated.

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What is this test based on?
The test is based on the results of a deCODE study, published in Science in June 2007, and the validation by two 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 compared to those without the variants (1.5 fold risk compared to the general population).  A positive test appears to correspond to a 1.6 fold risk of MI in general, regardless of age of onset.  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. These genes may play a key role in the development of atherosclerosis by regulating cell division of smooth muscle and other cell-types in the blood vessel wall,

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What is a genetic risk factor for a common disease and why is understanding inherited risk important?
A genetic risk factor for a common disease is a specific version of a marker in the sequence of the genome that causes or correlates with an increased likelihood of developing a given disease. Common diseases such as coronary heart disease and MI occur at the interface of genes and the environment, as both inherited as well as lifestyle and other health risk factors play important roles in the disease process. As a result, it is important to understand what carrying an inherited risk variant for a common disease means, and how that information can be used to develop and implement disease prevention strategies that can effectively reduce the likelihood of an individual ever developing the disease.

In basic terms, carrying a genetic risk variant for a common disease does not mean that one will necessarily develop the disease; and not having a certain risk variant does not eliminate the possibility of getting the disease. Rather, for the common diseases, genetic risk variants impact the likelihood that one may develop the disease. Understanding this inherited risk is empowering information with potentially important clinical utility. This is particularly true in a disease like MI, in which specific lifestyle and health factors are known to play such an important part. By understanding inherited risk, it may be possible to take preventive action – through lifestyle modification or by taking certain medications – to maximize the chances of staying healthier longer. This is similar to the approach that is taken to address other risk factors for common diseases, such as high cholesterol, which is commonly treated using statin drugs to reduce the risk of heart disease

 

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Should test results be interpreted differently for different ethnic groups?
Studies published so far have been limited to white Caucasians so the answer to this question is not known.

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Why is understanding inherited risk important for MI?
Coronary heart disease and MI have long been recognized to have well defined risk factors such as smoking, overweight, lack of exercise, high blood cholesterol, diabetes, and hypertension. Still some individuals are more susceptible to developing coronary heart disease and MI than others, even after accounting for shared lifestyle and health factors. This difference is the hallmark of the impact of genetic risk factors. The risk variant on chromosome 9p21 discovered by deCODE, and which deCODE MI™ detects, is the first widely-replicated, common variant ever found to associate with substantial increased risk of MI as a public health problem. It is also the strongest genetic risk factor for MI discovered to date.

As a physician, you likely have many patients with well known risk factors for coronary heart disease, who need to stop smoking, lose weight, get more exercise, improve their diet, and comply with your recommended blood lipid and/or blood pressure lowering medication. Moreover, your efforts to get your patients to change their lifestyle and address known risk factors for coronary heart disease are most likely not always successful. Additional information on which of your patients might also be at additionally increased genetic risk gives your advice added weight and relevance. For your patients the information should increase their incentive to implement and stick to lifestyle modification regimes and prescribed medications that can reduce their chances of getting MI. It can be argued that it is the patient’s right to know about all of his/her relevant risk factors. This is especially relevant in light of the difficulties patients are having with adhering to diet and weight recommendations and because the physicians role of keeping on reminding them of the importance of compliance to his/her recommendations.  It is in this context where knowledge of the presence of the extra genetic risk is the important for both parties.

 

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Who might benefit from having this test and why?
Anyone who wants to understand his/her overall risk-factors for developing coronary heart disease and MI. The added risk that the deCODE MI variant carries with it is relevant for decisions on the extent of  and adherence to preventive measures, lifestyle changes and medication.

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Is deCODE MI™  an FDA approved test?

No, this is a reference laboratory test that has not been cleared or approved by FDA. The laboratory that conducts the test is registered as a high-complexity laboratory under the Clinical Laboratory Improvement Amendments (CLIA). The clinical utility of this test as a means of assessing inherited susceptibility to coronary heart disease and MI, as presented on this site and elsewhere, is based upon published studies by deCODE and independent researchers demonstrating the correlation of carrying two copies of the risk variant and increased likelihood of coronary heart disease and MI.

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What scientific publications support the value of this test?

deCODE is widely recognized as the world leader in the discovery of genes contributing to risk of common diseases. deCODE has also led the way in publishing its discoveries, a commitment that not only drives ongoing research but also enables independent researchers from around the globe to validate the company’s discoveries.

deCODE´s discovery of variants on chromosome 9p21 associated with increased risk of coronary heart disease and MI, published in June 2007, has been replicated over 10 independent Caucasian populations  reported in several published studies.In all of the studies that have carried out comprehensive genome-wide searches for MI genes, this gene area of the genome is found to be the strongest genetic risk factor by far for MI. A list of key publications includes (populations/ethnic groups studied noted in parentheses):

For a complete list of relevant publications, click here.


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What is a positive result?
An individual with two copies of the risk variants will receive a positive result for deCODE MI™, and those with only one or no copy of the risk variants will receive a negative result for the test.

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How can I order the test?
You can order deCODE MI™ for your patients by following the simple steps outlined in Ordering deCODE MI™.

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Payment and Reimbursement
Payment can be made by any major credit card by the individual or by the ordering physician or clinic, by including the card details on the test request form. Samples submitted anonymously must be accompanied by a valid credit card number from the respective doctor or affiliated health care institution.

Is deCODE MI™ reimbursed?
deCODE plans to make the deCODE MI™ as widely available as possible and is working with physicians, patients, and their insurers on reimbursement for deCODE MI™. For more information contact customer service at diagnostics@decode.com, or by phone at 1-877-222-6510

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How can I get additional information?
If you would like additional information on deCODE MI™, you can contact deCODE at diagnostics@decode.com, or by phone at 1-877-222-6510 and a deCODE representative will respond promptly to your questions.

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