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

Systemic Lupus Erythematosus is a complex disease and often difficult to diagnose – knowing your genetic risk may help your doctor rule out or confirm Lupus.

Systemic Lupus Erythematosus has been added to the deCODEme Complete Scan. Lupus is an autoimmune disease characterized by intermittent flares of inflammation in various tissues of the body. Autoimmune diseases occur when the body’s tissues are attacked by its own immune system. Normally, people produce antibodies that attach themselves to infectious agents when they enter the body and mark them for destruction by the immune system. People who have Lupus produce abnormal antibodies that target tissues within their own body. Lupus can therefore cause inflammation and tissue damage in various organs such as the skin, heart, lungs, kidneys, joints, and even the nervous system. If you already have a deCODEme Complete Scan you can now log in to see your genetic risk for Systemic Lupus Erythematosus. If you want to purchase a genetic test visit the deCODEme store.

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.

As a deCODEyou reader, you have an active interest in how genetics can help to improve personal health and healthcare. If you are a deCODEme subscriber or have taken one of our DNA-based diagnostic tests, you have already followed up on that interest.

Then again, you may not have had your genome analyzed yet. You may simply be interested in taking part in research, having a scan, or simply in keeping up with the latest discoveries.

But whoever you are, your genome is information about you. And at deCODE, we believe that your genome belongs to you. Over the past decade we have worked with hundreds of thousands individuals who have decided to use their genome to advance our gene discovery work, to understand their risk of a certain disease, or who want to have a broad and constantly updated look at their genome through deCODEme. In every case, we think it is the individual who has the right to decide to use their genome and learn about it as they wish.

Our job is to find the variations in the sequence of the genome that have an impact on risk of disease, and to report to those who use our tests and scans what those findings mean to them. We have done a lot of this – more than anyone else. And because we take your genome as seriously as you do, our tests and scans only detect genetic risk factors that have been validated in multiple populations and to very strict criteria. Many of the risk factors we have found and test for in diseases like heart attack, type 2 diabetes and breast cancer account for a large proportion of the occurrence of these diseases. Some have as big an impact on risk as do some of the major lifestyle and environmental risk factors that are already a standard part of risk screening.

So when we hear august voices argue that you shouldn’t have the right to look at your genome if you want to, or that we shouldn’t test for genetic risk factors until we know everything there is to know about the human genome, we feel obliged to disagree. In this week’s New England Journal of Medicine, we have heard again that it is “too early” to measure genetic risk factors for common diseases. Why? In essence because in the coming years we are likely to discover many more genetic risk factors that will help to round out our understanding of all of the risk factors that exist. To be sure, we will discover more risk variants in a great many diseases. Many will be common but with little effect on risk. Others will be rare but will confer a high likelihood of disease and thus likely be useful components in genetic tests.

But since we already know risk factors that can nearly double the risk of heart attack, diabetes or breast cancer, in a substantial portion of the population, we take the much clearer view that there is an ethical responsibility to make tests for these risk factors available as widely as possible. As our CEO, Kari Stefansson, was cited as noting in the New York Times yesterday, our tests can identify people who are at several times average risk of major diseases, and there is nothing trivial about that sort of increased risk.

After all, we believe that testing for cholesterol is a good thing, even though our understanding of just how LDL impacts risk of heart disease in incomplete. Similarly, we are only now learning how to optimize the use of statins (and that our heart attack risk factor on chromosome 9p21 has been shown to be helpful for finding the best dose for individuals). How many lives would have been lost if we had taken statins off the market until that elusive day when we thought we understood everything about them?

In our view the challenge is rather to try to bring genetic risk factors into clinical practice as swiftly as possible. As an article this week in The Times points out, a deCODEme scan has a lot of actionable risk information in it. But one of the things we need to do is educate doctors about how to use such results  and how to integrate genetic risk into everyday screening. Our own experience with doctors is that most are very eager to learn. Moreover, genetic information complements what they already do and helps them to deliver better and more personalized medicine to their patients.

In the past few years we have made rapid strides in identifying the key genetic risk factors for some of the most common diseases in our society. Very large independent studies have established that detecting these risk factors can help individuals to act to protect their health and to get the treatments that are best suited to them. This is precisely the sort of information that is going to make it possible to transform our healthcare system into one that is both more effective and efficient – focused on preventing disease and treating it early, rather than spending vast sums of money once people are already seriously ill.

You and your genome are already at the heart of this transformation. If someone tells you that you need to wait, or that they will decide whether and what you can learn about yourself, you need to set them straight. We’ll be there with you.

Dr Edward M Farmer
Chief Communications Officer
deCODE genetics Inc.

Californians can now enjoy the benefits of deCODE’s market-leading DNA-based disease risk assessment tests and pioneering deCODEme™ genome scans

deCODE genetics today announced that it has received a clinical laboratory license from the State of California. The quality and scale of deCODE’s in-house, CLIA-registered genotyping laboratory underpins deCODE’s global leadership in the discovery of variations in the sequence of the human genome conferring risk of common diseases. The same staff and facility also process deCODE’s DNA-based reference laboratory tests for gauging individual risk of major public health challenges ranging from heart attack to breast cancer, as well as the company’s pioneering deCODEme™ scans, the world’s first personal genome analysis and focused disease area scans. With this license, California residents can now benefit from the unrivaled quality of deCODE products for understanding risk and, working with their physicians, empowering the prevention of common diseases.

“We believe that understanding genetic risk factors for the common diseases such as heart attack, stroke, type 2 diabetes and common cancers will soon become a standard part of modern healthcare. This information enables individuals to take more control of their health, and is driving the transition from a healthcare system based upon treating diseases once they occur to one focused on disease prevention and early detection. deCODE is unique in that we are the leaders both in the discovery of genetic risk factors for common diseases and in bringing to market the reference laboratory tests and direct-to-consumer scans that enable individuals and their physicians to put these discoveries to work to better protect their health. Our competitors outsource the science, the DNA-analysis, or both. But for us this is the real foundation of personalized medicine, and we are committed to delivering only the best validated tests and the highest quality results, all in-house. We are pleased that Californians will now be able to benefit from the highest quality products in this exciting new field,” said Kari Stefansson, CEO of deCODE.

Through its reference laboratory testing service, www.decodediagnostics.com, deCODE offers DNA-based tests for assessing individual risk of heart attack, type 2 diabetes, breast cancer, prostate cancer, and glaucoma. deCODEme™ is the world’s first retail genome analysis service, avialable at www.decodeme.com. The full genome Complete Scan scan and the Cardio and Cancer scans build on deCODE’s global leadership in the discovery of common variations in the sequence of the human genome conferring increased risk of common diseases. deCODE diagnostic tests and deCODEme™ scans detect the single-letter genetic variations (called SNPs) with the biggest impact on disease risk. These SNPs are validated in large-scale studies by deCODE as well as leading academic research institutions. DNA analysis is conducted in deCODE’s own CLIA-registered laboratory, one of the largest of its kind anywhere in the world.

Martha Stewart at the deCODE laboratories

On Thursday, February 5^th, just ahead of Friday’s annual focus on women’s heart health awareness, deCODE CEO Kari Stefansson is scheduled to appear live on The Martha Stewart Show, the nationally syndicated lifestyle series hosted by Martha Stewart. The discussion will focus on how understanding the inherited risk factors measured by the deCODEme™ full genome scan and the new Cardio and Cancer Scans may empower people to better protect their health. Those unable to watch Thursday’s show live can find a replay of the segment on www.marthastewart.com or on www.decodeme.com.

“As the people who discovered the highest impact genetic risk factors for heart attack and stroke, this is our way of encouraging people to gain a better understanding of their cardiovascular risk. Because these diseases occur at the interface between genes and the environment, this is empowering information that may help people to take action to effectively reduce the likelihood of developing these diseases. We are also pleased to have the opportunity to talk about our scans with Martha Stewart in this month devoted to increasing the awareness of heart disease. Heart disease remains the leading killer of women as well as men, but there is a lot we can all do, working on our own and with our doctors, to reduce our risk and to stay healthier longer,” said Kari Stefansson, CEO of deCODE.

You can watch deCODEme genetic tests on The Martha Stewart Show by clicking on this link.