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 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 has been shown to correspond to an approximate 1.6 fold increase over the general population of early onset MI and a 1.3 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.

 

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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.

The deCODE MI™ risk results are an addition to and independent of previously recognized risk factors and risk results derived by established risk assessment tools such as the Framingham, the Reynold’s, or the ARIC score may be multiplied by the relative genetic risk result of the deCODE MI™ test to derive a more complete risk for the next 10 year interval.  Thereby a patient may be reclassified to a different treatment category and blood cholesterol target, entailing a change in cholesterol lowering lifestyle recommendations and of the blood lipid lowering drug treatment.

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 Caucasians and East Asians so the answer to this question is otherwise unknown.

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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 differential 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.

The deCODE MI™ risk results are an addition to and independent of previously recognized risk factors and risk results derived by established risk assessment tools such as the Framingham, the Reynold’s, or the ARIC score may be multiplied by the relative genetic risk result of the deCODE MI™ test to derive a more complete risk for the next 10 year interval.  Thereby a patient may be reclassified to a different treatment category and blood cholesterol target, entailing a change in cholesterol lowering lifestyle recommendations and of the blood lipid lowering drug treatment 

In the most 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. This is particularly true in a disease like MI and other cardiovascular diseases, in which specific lifestyle and health factors are known to play such an important part. By understanding the risk, it is possible to take preventive action through lifestyle modification or by taking certain medications – to minimize the likelihood of an individual ever developing a disease.

 

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Who might benefit from having this test and why?
When it comes to MI, knowing your risk factors is the first step to enabling effective prevention. Many major lifestyle and environmental risk factors for MI are well known – among them smoking, hypertension, diabetes, elevated blood lipids, and obesity – and it is well established that addressing these risk factors to the extent possible can effectively reduce the risk of heart disease and MI. Inherited risk factors also influence individual susceptibility to MI. For those who are at increased risk due to lifestyle factors also understanding inherited risk factors such as that measured by deCODE MI™ may be especially important, underscoring the real potential benefit of a prevention program that involves quitting smoking, losing weight, eating right, and perhaps the use of certain medications, to help reduce the likelihood of developing MI.

Even though at this time there are no specific treatment options on offer that specifically target the effect or risk associated with deCODE’s MI markers the importance of preventive measures for cardio vascular diseases like coronary artery disease and MI can not be overemphasized.  Knowing as much as possible about one's risk and about individual risk factors that some thing can be done about is imperative for taking actions to reduce ones risk.  Family history of coronary artery disease and MI is known to be important risk factor that frequently prompts people to have them self evaluated for other risk factors or even the possible presence of coronary artery disease.  Independent of the family history for these diseases knowing ones genetic make-up in regard to deCODE’s genetic MI risk markers is relevant since they may be part of the familial risk or an addition to it. 

The deCODE MI™ test therefore offers a new factor and added weight to the analysis of an individual’s risk for coronary artery disease and MI which may help the individual and his physician to decide on how aggressive they should be in modification of lifestyle and/or specific drug treatments.

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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 in several published studies on Caucasians. 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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How are the results presented?
An individual with two copies of the risk variants are reported to have a relative genetic risk of 1.3 fold (1.27 for East Asians) the general population risk for developing MI and 1.6 fold the general population risk for early MI if younger than 50 for men and 60 for women (data not available for early MI in East Asians). Those with only one copy of the risk variants is reported to have the same risk as the general population. Those with no copy of the risk variants are reported to have 0.8 fold the population risk (the same for East Asians).

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How can I order the test?
You can have any licensed physician order your deCODE MI™ 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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