deCODE You

Appearing today in the New England Journal of Medicine is a stealthily encouraging study for the use of genetic testing to improve the assessment of the risk of the common forms of breast cancer. Stealthily, I say, because the authors seem oddly determined to provide a gloomy interpretation of their own data. The study, entitled ‘Performance of Common genetic Variants in Breast-Cancer (sic) Risk Models,’ by Wacholder et al, uses data from several major breast cancer studies to answer an interesting question: does adding the measurement of common SNPs linked to risk of breast cancer add to the risk assessment provided by the traditional ‘Gail score’ criteria – age, family history, age at menarche, age at first live birth and the number of previous breast biopsies?

The answer is clearly yes, though the authors of the paper seem not to want you to know that. Most importantly, the authors define as elevated risk those women between the ages of 50 and 79 who are at a greater than 0.575% chance of developing breast cancer in any given year. Using the Gail criteria alone, 18.9% of study participants were considered to be at elevated risk. But with the addition of the genetic risk factors – which are ten of the twelve risk factors tested for by deCODE Breast Cancer test – another 9% of participants could be identified as being in the higher risk category. A 50% improvement.

Similarly, using an Area Under the Curve calculation (customarily used to evaluate the accuracy of methods for diagnosing disease) the Gail model yielded an AUC of 58%, and the Gail-plus-genetics model yeilded an AUC of 61.8%. In an AUC model, the amount over 50% (the baseline of a test that is no better than random) is the measure of relative discriminatory power. So an increase from 8 to 11.8 is, yes, a small number, but also an improvement of something in the neighborhood of 45%. The study also shows that compared to each other, the set of genetic risk factors were more accurate predictors of breast cancer than were the Gail factors that are the current mainstay of risk assessment.

So I can see why the authors wouldn’t want to celebrating these results too loudly – because we need to do better. But what this study shows is that genetics is already taking us in the right direction, and that the addition of genetic risk to current clinical practice can – right now, today – provide a substantial improvement in the crucial task: to better risk stratify the population, focus screening on those who should have it, pick up more cancers earlier and save lives. I can’t see anythig but good news in that. Our task is to keep discovering new risk factors that will continue to increase the power of these tests, and we are committed to doing so.

Dr. Kari Stefansson

Hypertension genetic risk now a part of the deCODEme Complete Scan

Hypertension, commonly referred to as high blood pressure, has been added to the deCODEme Complete Scan. Hypertension is defined as blood pressure of 140/90 mmHg or above on three consecutive measurements at least six hours apart. Blood pressure this high is a risk factor for many diseases. Over time, the increased workload on the heart weakens it and contributes to atherosclerosis (the thickening of the arteries due to fat and cholesterol depositions), thereby increasing the risk of coronary heart disease and stroke, which are among the leading causes of death in the United States. High blood pressure can also lead to other conditions, such as heart failure, kidney disease, and blindness. High blood pressure is especially dangerous because it often has no obvious warning signs or symptoms and can therefore remain undiagnosed and untreated long enough to cause damage. High blood pressure is common, but too often goes undetected. An estimated 1 billion people worldwide have hypertension, and this number is expected to increase to 1.56 billion people by the year 2025. This translates to about 1 in 4 adults being afflicted with hypertension worldwide. Currently, about 1 in 3 Americans are thought to have hypertension, and a third of them probably do not know it.

The deCODEme team has been busy working to update and improve your deCODEme experience.  Additions include ABO blood types, Kidney stones, Eye color and Statin-induced myopathy. We have also added  a section for feedback and research and a more detailed Male line analysis.

Here is a summary of the additions and changes:

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Click on the image to watch the 60 Minutes Australia segment on genetic testing

The Killer In You

60 Minutes Australia recently visited the deCODE genetics labs in Iceland and interviewed deCODE’s CEO Dr. Kari Stefansson. Among the people who did the deCODEme genetic test were journalist Liz Hayes, world surfing champion Layne Beachley and Australian television’s favorite builder, Scott Cam. To watch the 60 Minutes Australia segment click on the image above. To read the transcript of the webchat with Professor Bob Williamson click here. To learn more about deCODEme genetic tests and order your personal genome scan visit www.decodeme.com.

deCODEme calculates your genetic risk for Multiple Sclerosis

The Multiple Sclerosis Association of America (MSAA) encourages Multiple Sclerosis (MS) Awareness during March 2009.

Multiple sclerosis (MS) is the most common neurological disorder diagnosed in young adults.  It is an inflammatory disease of the central nervous system; the brain, nerves and spinal cord, that damages the protective insulation (known as “myelin”) surrounding the nerves. As a result, nerve impulses carrying messages from the brain and spinal cord are disturbed, causing a variety of symptoms such as visual disorders, weakness, dizziness, and various movement disorders, to name but a few.

The causes of MS are not fully understood. With better understanding of the disease, more effective ways will be found to treat it in the future, and hopefully prevent it from occurring in the first place. Significant steps towards better understanding of MS have however been made.

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deCODEme takes on Heart Disease in February

February is American Heart Month. With heart disease being the leading cause of death in the United States it is important to assess your genetic risk of developing Cardiovascular conditions. To mark this we have decided that during the month of February our deCODEme Cardio Scan™ will be offered for a promotional price of $100.

deCODEme Cardio Scan enables individuals to better understand their inherited risk of heart attack, stroke and atrial fibrillation, intracranial and abdominal aortic aneurysm, and venous thromboembolism.

Genetics contribute to the risk of Coronary heart disease and heart attacks

Coronary heart disease is a progressive disease that begins early in life but symptoms generally do not appear until middle age or later. Coronary heart disease is the main cause of death in the developed countries and it is estimated that over 1.35 million North Americans will as a result of coronary heart disease, have a heart attack in the year 2008.

Several studies have found evidence of a genetic contribution to CHD and heart attacks. Two common genetic variants have been discovered that are associated with an increased risk of heart attack; one variant near the CDKN2A/2B genes on chromosome 9 and another in the CELSR2/PSRC1 genes on chromosome 1. The variant near the CDKN2A/2B genes is a particularly strong risk factor for early-onset heart attacks (occurring earlier than 50 years of age in men and 60 years of age in women).

Adopting a heart-healthy lifestyle can reduce risk

Even though age, gender, and family history are unmodifiable risk factors for coronary heart disease and heart attacks, the risk of developing CHD and eventually a heart attack can be reduced with a lifestyle that includes physical activity, a heart-healthy diet, and no smoking.

deCODE customer rep Larus Jon Gudmundsson and genetic counselor Kris Kristjansson MD

Tapping the vast resources of deCODEme scientists

The users of deCODEme show great interest in their results and are not afraid to ask questions. deCODEme customer support welcomes all questions and inquiries and taps the vast knowledge base and resources of its research teams to respond to all emails as comprehensively and quickly as possible. Among the more general questions we receive is the following.

Question
“I’m seriously thinking about doing the DNA test. Now I only have to decide from which company. How does your test compare with tests from other companies?”
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On October 8th MSNBC published an article by Arthur Caplan, Ph.D. on genetic tests for breast cancer.
The following is a response by Jeff Gulcher, M.D., Ph.D, Chief Scientific Officer at deCODE Genetics.

Arthur Caplan stresses caution in the application of the new genetic risk tests for common diseases and I certainly agree that genetic testing should be applied with care. However, he goes too far when he says that the new deCODE BreastCancer genetic risk test is only useful for women who have two or more close relatives with breast cancer, is not based on large enough studies to be accurate, and is not regulated.

There are two major types of breast cancer: the rare, early onset form that occurs in certain families and for the detection (for which the Myriad Genetic test is well suited), and the common form which accounts for 95 percent of breast cancer. The vast majority of women who develop breast cancer do not have the conventional risk factors of family history, pregnancy history or breast density. Unfortunately, many of these women were likely considered to be of average risk before their cancer was found. Therefore, they were not even offered screening with breast MRI which detects two to three times more cancer at an earlier stage than mammography alone, or preventive measures such as tamoxifen treatment which can cut down cancer rates by 40 to 50%.
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In a recent interview Dr. Kari Stefansson, C.E.O. of deCODE genetics talked about the future for genetic tests such as deCODEme and how he believes that they will drive the shift from intervention to prevention in medicine

As the founder and CEO of deCODE, I want to welcome you to our blog, deCODEyou. This is a place where you can learn not just about deCODE’s discoveries and products but what others are saying about our work and about the application of human genetics to healthcare. We also hope that it will become a place where we can hear from you.

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