deCODEme Prostate Cancer

Last night we announced our discovery of four more SNPs linked to increased risk of prostate cancer. At the same time, academic collagues in the US and UK have also found more SNPs. (See article in TIMES ONLINE) All of the well-validated new risk variants will be incorporated into your deCODEme profile in the days ahead.

In the same study we published yesterday, we also conducted an analysis of all well-validated genetic risk factors discovered to date to establish what percentage of men would be at a significantly higher risk than average using these markers. Based upon our ability to swiftly conduct a population-based analysis in Iceland, this analysis demonstrates that about 4% of men are at more than double average risk based upon these risk factors, while just over 1% are at more than 2.5-times average risk.
Average lifetime risk of prostate cancer in Iceland is very similar to that of other populations of European descent, at about 12%. In light of the above calculations, that means that about 4% of men are at more that 20% lifetime risk based upon currently known risk SNPs, while slightly more than 1% of men are at more than 30% lifetime risk. Other standard measures of risk, such as age, family history, and PSA score, are all independent of the risk measured by common genetic risk factors, and so complement this risk calculation.

All of this is important to bear in mind as you check your own risk profile and consider what this information might mean to your health. Those of us who are deCODEme subscribers may well have wondered what it means when new risk factors are found, incorporated into our risk calculations, and your risk score changes. The answer is that for the vast majority of us, our increased risk of these common diseases is either slightly above or slightly below average. The numbers may change slightly, but this may not have any immediate bearing on how you should try to protect your health. At the same time, because these diseases are common, average risk is rarely insignificant, so we are none of us off the hook.

Yet it is for those in the highest risk categories that your profile may provide information that you can take to your doctor, and with him or her consider other risk factors you may have and evaluate how best to lower that risk or undergo appropriate screening.

As ever, we are eager to hear how you use your profile and how it may be helping you to take more control over your health. For our part, we will continue to integrate the best in genetics into your profile.

With best regards,
Edward Farmer
The deCODEme Team

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.

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.

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.

deCODE Complete Scan, Cardio Scan and Cancer Scan.

Through deCODEme™, the world’s first retail genome analysis service, deCODE genetics today announced the launch of the first focused genetic scans for assessing personal risk of several major cardiovascular diseases and common cancers. deCODEme Cardio™, which detects genetic risk factors for Heart Attack, Atrial Fibrillation, Peripheral Artery Disease (PAD), and several other conditions, is offered at an introductory price of $195. deCODEme Cancer measures genetic risk factors for Prostate Cancer, Lung Cancer, Bladder Cancer, Skin Cancer and Colorectal Cancers, as well as the common form of Breast Cancer, at an introductory price of $225. Both can be ordered as a bundle for $350.

Focused Genetic Scans offer individuals a new way to better understand their risk of cardiovascular disease and common cancers.

“The common diseases, including cardiovascular conditions such as heart attack and stroke, as well as the common forms of cancer in women and men, result from both genetic and environmental risk factors. We are all familiar with many of the environmental and lifestyle factors that impact our risk of these diseases, and we know that addressing these risk factors can lower our risk of disease. Building on our discoveries of inherited risk factors for these diseases, our goal is to help individuals understand the genetic side of the equation. This is empowering information, that may enable people, on their own or working with their doctors, to make more informed decisions to protect their health. In an age when we are encouraged to take more responsibility for our health, we believe that we should all be able to use understanding of our genome to do stay healthy. deCODEme™ opened the era of the personal genome scan, and deCODEme Cardio™ and deCODEme Cancer™ offer individuals who wish to better understand their risk of particular diseases a focused means of doing so,” said Kari Stefansson, CEO of deCODE.

The scans – deCODEme Cardio™ and deCODEme Cancer™ – 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. They combine the latest science and highest quality analysis as only deCODE can. The scans are based on assays custom designed by deCODE scientists to detect the single-letter genetic variations (called SNPs) with the biggest impact on disease risk. These are SNPs 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 genotyping facilities in the world. Subscribers have access to genetic counseling. Many deCODE customers have already employed the results of deCODEme and the company’s range of DNA-based risk assessment tests to improve and protect their health. Stories of how deCODE’s products are helping individuals and their physicians to take more control of their health can be found on our blog, at www.deCODEyou.com.

deCODEme Cardio™ measures 8 SNPs associated with the risk of heart attack, intracranical and abdominal aortic aneurysm, stroke and atrial fibrillation, peripherial arterial disease (PAD) and venous thromboempolism. deCODEme Cancer™ measures 29 SNPs associated with risk of prostate, lung, bladder and colorectal cancers, as well as basal cell carcinoma and the common form of breast cancer. Based upon which versions of these SNPs they carry, subscribers will receive a secure online profile presenting their results. Results are presented both in terms of relative risk compared to the general population, as well as absolute lifetime risk, which is the percentage likelihood that an individual will develop a disease in their lifetime, which is their relative risk multiplied by the average lifetime risk in the population.

The results also explain what other risk factors interact with genetic risk to increase or decrease the likelihood of developing a given diseaese, as well as how subscribers may wish to follow up with their doctor to optimize the prevention or early detection of these diseases. deCODEme offers genetic counseling to all its subscribers, and deCODE counselors can be consulted via email or by telephone.

Iceland was mainly settled by Scandinavian men and women from Irealand and Scotland

In a paper published today scientists at deCODE genetics present the results of the largest study of ancient DNA from a single population ever undertaken. Analyzing mitochondrial DNA, which is passed from mother to offspring, from 68 skeletal remains from approximately 1000 years ago, the study provides the most detailed look to date at how a contemporary population differs from that of its ancestors. The results confirm previous deCODE work that used genetics to test the history of Iceland as recorded in the sagas.

Audio link:  Dr. Kari Stefansson interviewed on BBC WORLD. BBC

These studies demonstrated that the country seems indeed to have been settled by men from Scandinavia – the vikings – but that the majority of the original female inhabitants were from the coastal regions of Scotland and Ireland, areas that regularly suffered raids by vikings in the years around the settlement of Iceland 1100 years ago.

Perhaps the most remarkable finding of the study published today is that the gene pool of contemporary Icelanders appears to have evolved rapidly over the intervening thousand years. As a result, the original female settlers are genetically more closely related to the present day populations of Scotland, Ireland and Scandinavia, as well as those of northwestern Europe and even southwestern Europe, than they are to present day Icelanders. This is an important demonstration of a phenomenon known as ‘genetic drift.’ In essence, in any population certain individuals will have more offspring and, by chance and in this case over the course of 35 generations, many more descendants than others. And as a result, particularly in a small population, the genetic variety of the original population can decrease and change over time. In this study only mitochondrial DNA was studied, but the same phenomenon applies to the Y chromosome, which is passed from fathers to sons, and to any other part of the genome. The paper, ‘Sequences from first settlers reveal rapid evolution in Icelandic mtDNA pool,’ is published today in the open-access journal PLOS Genetics.

“This study is a major contribution to the use of ancient DNA studies in tracing the history not just of single populations, but of our species and how we spread from Africa to every corner of the globe. It is the first such study to be large enough to permit meaningful statistical methods to be applied to ancient DNA. We very much hope this will aid and encourage others to follow with large studies in other parts of the world. In this field, as in the genetics of common diseases, we are pleased and proud to be able to put the knowledge we gain in Iceland to work for the benefit of people everywhere,” said Kari Stefansson, CEO of deCODE.

deCODE scientists have discovered new genetic variants influencing BMI, weight and risk of obesity

As we all know to well, for decades the scales have been tipping in favor of obesity. The epidemic of obesity in many industrialized countries has been driven by many factors, including easy access to fast food, an increasingly sedentary lifestyle, insufficient daily physical activity. All of this while our genomes have evolved on a background of scarcity, often putting a premium on the ability of the body to turn food into fat and store energy for leaner times. A paper published today by deCODE scientists and academic colleagues from the US and Europe provide a significant advance in our knowledge of the underlying genetics and biology of obesity, providing new information for understanding and addressing obesity and perhaps nudging the scales the other way.
In a major study published today, the deCODE-led team reports the discovery of a large number of single-letter variations in the sequence of the human genome (SNPs) influencing body weight, body mass index (BMI) and risk of obesity. (BMI>30kg/m2). The discoveries were made be scanning over 300,000 SNPs in more than  30,000 individuals from Iceland, The Netherlands, and the United States, and then confirming the findings in individuals from Denmark and the multinational GIANT consortium, totaling close to 40,000 individuals. Interestingly, many of the variants discovered are located near genes related to energy sensing or food intake regulation in the brain, suggesting its importance in the development of obesity.   Although these variants only explain a small fraction of the variation in BMI, they provide new insght into the basic mechanisms underlying obesity and a first step towards identifying drug targets that can be used to address the global public health challenge of obesity.

Crown Prince Frederik of Denmark and Crown Princess Marie of Denmark along with deCODE scientist Unnur Thorsteinsdottir during an official visit to deCODE laboratories earlier this year.

Reykjavik, ICELAND, December 8, 2008 – deCODE genetics (Nasdaq:DCGN) today announced the discovery by an international consortium of scientists from deCODE and major European and US academic institutions of a single letter variation in the human genome (SNP) that is associated with increased fasting glucose levels and risk of type 2 diabetes (T2D). deCODE will employ its CLIA-registered genotyping laboratory and existing testing platform to swiftly integrate the finding into its deCODEme™ personal genome scan, and to assess the addition of this new variant to the company’s deCODE T2™ reference laboratory test for assessing individual risk of type 2 diabetes.

The multinational study analyzed a number of SNPs that had been suggestively linked with fasting glucose levels in several major studies involving some 36,000 individuals from Europe and the United States.The analysis identified a version of single SNP within the gene encoding melatonin receptor IB (MTNR1B) that was associated with notable increase in fasting glucose levels. The deCODE team then demonstrated in its Icelandic cohort that this SNP also associated with an increased risk of T2D, a finding that was then replicated in a meta-analysis of data from more than 80,000 cases and controls from Europe and the US. Approximately 10% of the participants in this study carry two copies of the at-risk version of this SNP, putting them at more than 15 percent greater risk of type 2 diabetes than individuals who carry no copies. The paper, entitled “Variants in MTNR1B influence fasting glucose levels,” is published today in the online edition of Nature Genetics, and will appear in an upcoming print edition of the journal.

“This finding is another step towards rounding out our understanding of the genetic factors that underpin glucose regulation and risk of type 2 diabetes. This variant does not confer sufficient risk to be of clinical utility on its own. But when measured in addition to our TCF7L2 variant that is the anchor of the deCODE T2™ test, it may, like other common variants conferring modest risk, enable the test to capture an even larger proportion of inherited risk. We are currently evaluating its integration into deCODE T2™, because understanding genetic risk of T2D enables individuals and their physicians to focus, personalize and improve prevention. In the meantime, we will be enabling our deCODEme subscribers to check their profiles for this new variant, keeping them at the cutting edge of human genetics” said Kari Stefansson, CEO of deCODE.

Type 2 diabetes: A major public health problem
T2D is a chronic condition that develops when the body either becomes resistant to or doesn’t secrete enough insulin. Diabetes affects nearly 200 million people worldwide and, according to the American Diabetes Association, some 21 million in the United States. The vast majority of these have T2D, and as many as one third of Americans with diabetes may not even be aware that they have the disease. More than 50 million Americans have pre-diabetes, a condition characterized by elevated blood glucose levels and which puts these individuals at high risk for developing T2D. T2D can be managed and – most importantly – prevented. If losing weight, eating better and getting adequate exercise aren’t enough, there are also medications that can help to manage blood sugar levels and insulin response to reduce the likelihood of developing diabetes. For more information on T2D and how to prevent it, you can go to the American Diabetes Association’s website.

A new genetic test assessing a woman's risk of developing the most common forms of breast cancer has arrived. Can the test, developed by the biopharmaceutical company deCODE, improve the way doctors screen for breast cancer?

Breast cancer kills 40,000 people a year in the U.S. This is about the population of Atlantic City, New Jersey. Imagine, each year an entire city wiped out by breast cancer.

To help fight breast cancer, a new test assessing individual risk has just become available. For women without a clear family history of the disease, the deCODE BreastCancer^TM test assesses their personal risk of developing the most common forms of breast cancer. The DNA test, launched by the biopharmaceutical company deCODE, makes it possible to identify those women at significantly higher than average risk, helping doctors use new screening technologies and treatments in a more targeted, personalized and effective manner.

The key to fighting breast cancer, like all cancers, is early detection, which is why the medical field is buzzing over deCODE’s new breast cancer test.

“This test helps define individual prevention which is what so many of my patients want,” says Owen Winsett, MD, founder and director of the Breast Center of Austin.

Dr. Winsett, who has already ordered the test for 25 of his patients, can’t hide his enthusiasm over how the decode breast cancer test is changing the way he screens for the disease.

“I’m excited to be able to extend my screening and prevention practice. I plan to make this test a standard tool for helping me decide which of my patients may benefit from screening at an earlier age, or benefit from more intensive screening, including breast MRI’s. And then if my patients don’t have breast cancer, to motivate them to begin healthy preventive strategies.”

The test is not offered directly to individual women, but rather ordered by doctors on the request of their patients. deCODE advises that the test-which scans a woman’s genome for seven widely replicated single-letter variations (SNPs) in the human genome that are linked to increased risk of breast cancer-is a way to better connect doctor and patient.

Dr. Winsett agrees. He recommends that before taking this test women should consult their general practitioner, and if their doctor is uncertain about how to use the results of the test, to seek out a breast cancer specialist.

Like all new technologies – particularly those that may change accepted clinical practice – this type of risk screening has raised concerns in some quarters. Some critics have argued that the test is not accurate enough because it’s not based on a large enough sample of women to predict risk of breast cancer. However, the evidence tells a different story. According to Dr. Winsett, epidemiological studies on breast cancer present a fairly straightforward argument that deCODE’s genetic test does indeed give a picture of a patient’s baseline risk. The evidence shows that the seven SNPs in the human genome that the decode test scans for are linked to an estimated 60 percent of all breast cancer cases. These findings are derived from integrated data from discovery and replication studies published in major peer-reviewed journals and involving nearly 100,000 breast cancer patients.

“I remind patients this test is one peice of the puzzle,” says Dr. Winsett. “The test won’t tell patients if they will get breast cancer or if they won’t. It shows the average risk, and then says where a woman stands in relation to that average and then what her absolute risk is. As a doctor, deCODE’s breast cancer test helps me evaluate a patient and make a future plan for prevention and testing.”

Still, some non-clinicians feel genetic testing only benefits women who have a strong family history of breast cancer. One bioethicist recently wrote on an MSNBC blog that “the tests Decode and other companies are offering are more likely to empty family pocketbooks and leave women with a false sense of security than they are to prevent breast cancer.”

Dr. Winsett finds this argument muddled. There are already tests to pick up genetic risk factors for highly familial forms of the disease, and neither those tests nor deCODE’s for measuring risk will cure or prevent breast cancer. Dr. Winsett notes that mammograms, ultrasounds and breast MRIs don’t prevent women from getting breast cancer either, but doctors still use them because they are tools to help detect breast cancer.

“Sometimes a patient will say, ‘I’ve had a mammogram regularly, so how can I get breast cancer?’ It’s easy to think that. But neither mammograms nor the deCODE test can on their own prevent breast cancer. It’s how you use the information from the genetic test to shape a patient’s care that leads to prevention or early detection.”

Genetic risk screening for breast cancer might sound like cutting-edge medicine, but doctors have been using genetics to assess risk of developing breast cancer for years. There are genetic tests that look for mutations of the BRCA 1 and BRCA 2 genes. Variations in these genes are linked to the rare and essentially purely genetic forms of breast cancer.

While detecting the BRCA variants is considered very valuable information to women with a family history of the disease, doctors and researchers knew genetics would one day play a bigger role in the remaining 95 percent of breast cancers. The deCODE BreastCancer^TM test is aimed squarely at filling this gap, and to broadening the use of genetics in fight against breast cancer.

When a woman’s genome is scanned with deCODE BreastCancer, deCODE’s CLIA-registered laboratory checks for certain versions of seven single-letter variations in the genome, called SNPs. According to which versions are detected, that woman’s risk is then tallied, adding together the risk of each of the seven SNPs, to yield a score in relation to average risk, which is about 12% for American women of European origin. By multiplying the relative risk by the average, the results also provide a score of a woman’s absolute risk of developing breast cancer in her lifetime.

Depending upon a woman’s assessed risk, her doctor may suggest that she receive regular mammograms earlier than age 40, the standard starting age in the United States. If the test reveals a high risk, clinicians like Dr. Winsett might order a more advanced breast MRI or an ultrasound test for his patient. In some cases, high-risk patients with other contributing risk factors might start on a course of treatment to reduce the risk of tumors.

Decode’s breast cancer test is not a silver bullet. It won’t cure cancer. It measures risk and will be used in conjunction with other diagnostic tools and treatments to reduce the impact of the disease. But by using deCODE’s genetic test to find out which patients have a higher risk for the disease, says Dr. Winsett, earlier detection of breast cancer is possible.

“With the advent of deCODE’s breast cancer test we can intervene before the cancer happens. My hope is that we’ll see fewer breast cancers. I’m in business of dealing with breast lumps. I’m hoping this test can help reduce the breast lumps that I see.”

deCODE Breast Cancer enables women to understand whether they may benefit from more intensive screening, monitoring or preventive drug therapy.

Reykjavik, ICELAND, October 8, 2008 – deCODE genetics today announced the launch of deCODE BreastCancer™, a new tool for assessing risk of the common forms of breast cancer. For the first time, a woman concerned about breast cancer can speak with her physician about a genetic test to better understand her lifetime risk of developing the common forms of the disease.

The common forms of breast cancer result from the interplay of genetic as well as environmental and lifestyle factors and represent 95 percent of all breast cancers. These are distinct from the rare and essentially purely inherited forms of the disease due to mutations in the BRCA1 and BRCA2 genes, which cause between 1 and 3 percent of breast cancers. deCODE BreastCancer™ is a DNA-based reference laboratory test performed using a simple blood sample or cheek swab, ordered by physicians on behalf of their patients.

“This test is simple and compelling because it provides a woman and her doctor a means of understanding her personal risk of developing the common forms of breast cancer. This information is well-validated, relevant to the vast majority of women, and independent of family history and other known risk factors. Combined with the high public awareness of the importance of screening, advances in magnetic resonance imaging (MRI) technology and the availability of preventive drugs targeting estrogen receptors, I believe this test will help to save lives,” said Dr. Kari Stefansson, M.D., Dr. Med., CEO of deCODE.

“DNA-based breast cancer risk assessment has to date been focused on detecting rare mutations that confer very high risk of early onset breast cancer. These are very valuable tests, but they do not measure genetic risk of the common forms of the disease.  The DNA markers identified recently by deCODE represent an important step toward filling current gaps in our understanding of breast cancer risk.  Ultimately, the goal is to deliver more personalized prevention and treatment for a much greater number of women,” said Rebecca Sutphen, M.D., Clinical Geneticist at Moffitt Cancer Center and Advisory Board member at Informed Medical Decisions, Inc., a network of genetic counselors who provide support to physicians and patients using deCODE’s tests.
“We speak to many people who are concerned about breast cancer through our 24/7 YourShoes Breast Cancer Support Center,” said Margaret C. Kirk, CEO, Breast Cancer Network of Strength (formerly known as YME National Breast Cancer Organization). “We are very interested in all advances that could empower people to take charge of their health care and better understand their risk for developing breast cancer.”

Owen Winsett, M.D., founder and director of the Breast Center of Austin, Texas, commented: “I have followed closely the recent scientific discoveries that are incorporated into this test. I am excited to be able to extend my screening and prevention practice, because this test applies to so many more women than the BRCA1 and BRCA2 tests. My patients are eager for this type of risk information and appreciate that the test can be done with a painless inner-cheek swab. I have ordered several tests on an early-access basis and plan to make this test a standard tool for helping me to decide which of my patients may benefit from screening at an earlier age, breast MRIs, and other risk reduction measures. This test helps define individual prevention, which is what so many of my patients want.”

The deCODE BreastCancer™ test measures seven widely replicated single-letter variations (SNPs) in the human genome that deCODE and others have linked to risk of breast cancer. These SNPs contribute to the incidence of an estimated 60 percent of all breast cancers. The test integrates data from discovery and replication studies published in major peer-reviewed journals and involving nearly 100,000 breast cancer patients and healthy volunteers from many populations, principally of European descent. deCODE and other organizations are conducting replication studies to validate these markers in populations of other continental ancestries.

Women taking the deCODE BreastCancer™ test will receive a numerical score representing their relative risk of developing breast cancer in their lifetime compared to that of the general population as well as their personal lifetime risk. According to the American Cancer Society, average lifetime risk for women of European descent is 12 percent. Test scores range from 4.0 times average lifetime risk to less than half, or 0.4-times. The risk assessed by deCODE BreastCancer™ is independent of conventional risk factors such as family history of breast cancer in close relatives, age at first menstrual period, pregnancy history, and breast density. Therefore, this genetic risk should be viewed in the context of other risk factors assessed by a woman’s physician.

deCODE BreastCancer™ can identify the roughly 5 percent of women who are at a greater than 20 percent lifetime risk of the common forms of breast cancer (about twice the average risk in the general population), and the 1 percent of women whose lifetime risk is roughly 36 percent (about three-times average). According to ACS guidelines, women with a lifetime risk of 20 percent or greater should receive annual MRI breast screenings in additional to mammograms, and women at 15 to 20 percent lifetime risk should talk with their doctors about the benefits and limitations of adding MRI screening to their yearly mammogram. With the information provided by the deCODE BreastCancer™ test, an additional 15 percent of women may fall within this range of moderately increased risk.

The test also predicts which women are more likely to develop ER-positive breast cancer if they develop cancer at all. This is important because these women may be more likely to respond to prevention strategies with drugs like tamoxifen that target estrogen receptors. The American Society of Clinical Oncology (ASCO) recommends that women with a five-year risk of 1.66 percent or greater should be considered for preventive treatment with tamoxifen.

deCODE BreastCancer™ may also be used to modulate the risk profile of the early onset inherited forms of breast cancer in women who have tested positive for risk variants in the BRCA1 or BRCA2 genes.

How to order deCODE BreastCancer™
Additional information and physician order forms for deCODE BreastCancer™ can be found at www.decodebreastcancer.com. The price of the test is $1625 dollars and deCODE facilitates filing for reimbursement with commercial insurers. Testing is performed in deCODE’s CLIA-registered laboratory, which has analyzed the genomes of hundreds of thousands of people from around the globe.

About Breast Cancer
Breast cancer is the most common cancer and the second leading cause of cancer deaths among women, according to the World Health Organization. The ACS estimates that 182,400 new cases of invasive breast cancer will be diagnosed in the United States in 2008, resulting in more than 40,000 deaths.

Breast cancers are classified as ER-positive or ER-negative according to whether tumors are found to contain estrogen receptors. In women of European descent, approximately three-quarters of breast cancers are ER-positive, and in women of African descent, approximately 50 percent are ER-positive.

Although a substantial portion of risk of breast cancer is inherited, it has taken painstaking research to find genetic variants predisposing to the disease’s common forms. The mutations in the BRCA1 and BRCA2 genes conferring very high risk have a less than 0.5 percent frequency in the general population in the United States and Europe, accounting for only 1-3 % of all breast cancers.

Identifying and enabling the detection of a substantial proportion of the genetic risk for the common forms of breast cancer is the goal of deCODE’s gene discovery work in breast cancer and the deCODE BreastCancer™ test. Women who know they are at a higher than average risk of breast cancer can also make proactive lifestyle changes to lower their lifetime risk, according to ACS. These include staying physically active, maintaining a healthy weight, eating healthy foods, and limiting alcohol intake and smoking.

About deCODE
deCODE is a biopharmaceutical company applying its discoveries in human genetics to the development of diagnostics and drugs for common diseases. deCODE is a global leader in gene discovery — our population approach and resources have enabled us to isolate key genes contributing to major public health challenges from cardiovascular disease to cancer, genes that are providing us with drug targets rooted in the basic biology of disease. Through its CLIA-registered laboratory, deCODE is offering a growing range of DNA-based tests for gauging risk and empowering prevention of common diseases, including deCODE T2™ for type 2 diabetes; deCODE AF™ for atrial fibrillation and stroke; deCODE MI™ for heart attack; deCODE ProCa™ for prostate cancer; deCODE Glaucoma™ for a major type of glaucoma; and deCODE BreastCancer™ for the common forms of breast cancer. deCODE is delivering on the promise of the new genetics.

Jack Doughery says deCODEme genetic test was an investment

Jack Doughery feels great and wants everyone to know it.

“I almost feel evangelical about my health,” says the 62-year-old businessman from Spokane, Washington. “I’m so excited about what can happen if you do the right things and have the right tools.”

Jack started doing the right things once he began what he calls his journey, which kicked off one day after waking up at three in the morning craving a cigarette.

“When you’re waking up at three in the morning, coughing and spluttering, and the only way to calm down is by smoking a cigarette, you don’t have to be too smart to know this might not be the way to go. It got my attention,” he remembers.

One of Jack’s first stops along his grand trip was at Spokane’s Heart Attack and Stroke Prevention Clinic, run by nurse practitioner Amy Doneen. It was Doneen and Dr. Bradley Bale who put Jack on the path to prevention, helping Jack to reshape his life using diagnostic testing, nutrition and exercise.

Recently, Amy Doneen began using a new test to help alter Jack’s journey—deCODEme, a genetic test that scans a patient’s genome for markers relating to 30 various diseases. The deCODEme genetic test gauges a patient’s average and lifetime risk of developing diseases such as Alzheimer’s, heart attack, prostate cancer, and most recently bladder cancer.

“I’m no doctor,” Jack says. “But in laymen’s terms, the tool is another arrow in Dr. Bale’s quiver to help me do the right things.”

Jack hasn’t always done the right things. In addition to his a two-pack-a-day habit, he often drank copious amounts of alcohol. He was, in his own words, in “bad shape.” Even the death of his father at the early age of 62 didn’t alter the trajectory of his unhealthy lifestyle.

“Back then, I thought 62 was old. Now that I’m 62, I’ve changed my mind.”

deCODEme genetic test customer Jack Doughery

Children often pick up their parents’ habits, and so it was for Jack. One of those habits was a breakfast straight from the heart-attack diet.

“We ate bacon, sausage, eggs, all fried and cooked in lard. We had biscuits, gravy and maybe some peach or cherry cobbler,” he says, and then to make sure he’s understood, he emphasizes: “I’m still talking about breakfast. I haven’t moved on.”

Pulling no punches, this eat-everything diet made Jack—”fat.”

“I was one large unit,” he remembers. “I weighed 197 pounds in the eighth grade. I had to breathe hard just trying to walk.”

That changed when Jack discovered girls. Realizing that most girls weren’t interested in boys that looked like him, he began eating nothing but cottage cheese and lost 60 pounds in 90 days.

“I think I was the first person to invent the Atkins diet,” Jack says with a laugh, referring to the popular diet consisting of high protein and low carbohydrates.

But the weight loss was only temporary. Jack continued to smoke and drink and the pounds piled back on. Jack says that he didn’t really take control of his health until he started a family. It was then he realized that he wanted to be around to see his grandchildren. So he quit smoking and drinking all in one day and began an exercise program. This, he recalls, was his first investment in his own health.

“I weighed over 200 pounds. Now I weigh 166 pounds. I wanted to make sure when I was older I was living a quality life rather than just trying to make it.”

Helping Jack live a quality life are Dr. Bradley Bald and Amy Doneen, who discovered that Jack was loaded up with arterial plaque. When Jack was only 52, his vein age was 70. Today, after they helped Jack remake his lifestyle, Jack’s vein age is 49. Dr. Bale and Doneen helped improve Jack’s health by putting Jack on an exercise and nutrition program and by prescribing medication that reduced his cholesterol levels.

“Dr. Bale totally turned my life around.”

But getting Jack back in shape required more than fixing his weight and reducing the accumulation of plaque in his blood vessels. Even after these changes, Amy Doneen recommended that Jack go even further and take the deCODEme genetic test. By that time, Jack had been working with The Heart Attack Prevention Clinic for years and was in great shape. He’d step on the treadmill, and raise the pace and incline, but Jack kept going. He’d ace the stress test every time.

“If you looked at me you’d say, wow, that guy is in great shape.”

But the deCODEme test revealed something that had previously remained hidden. Jack had a significantly higher than average risk of developing diabetes. This was a louder alarm than the 3-am cigarette.

“Diabetes. That’s what killed my dad,” Jack laments.

While the result scared Jack, he says that he was quickly comforted by the fact that he knew his vulnerabilities and that enabled him to take extra preventative precautions. The test, he says, was well worth the $1000 he paid for his results.

But let’s face it. The economy is tight. Gas prices are going through the roof. Food prices keep rising. Health insurance costs are out of control. Some potential patients look at the cost of the test and wonder if it’s worth the money. After all, not everyone is a successful businessman and public speaker like Jack. But Jack has a simple answer for them.

“I was talking to my brother about this very thing. I told him, ‘Is your life worth $1000?’ Now that might not be something a doctor can say, but that’s my opinion. I think people have to look at it in perspective. They wouldn’t even blink at spending that much on a big-screen TV. And they’ll even put it on a credit card and pay for it over 30 years. So what’s the priority? I don’t look at the test as spending money. The deCODEme test is an investment in yourself.”

Jack takes the money out of the equation. His thoughts turn to his four grandchildren. He wants to watch them grow up. He understands deCODEme’s genetic test is not a silver bullet, and won’t enable him to avoid all illnesses. It’s another tool, or as Jack repeats, another arrow in Doneen and Dr. Bale’s quiver.

“It gives Dr. Bale another awesome tool to assist me on this awesome journey. And at 62 here I am. I feel fantastic.”

Jack Doughery's genetic test showed that he had a significantly higher than average risk of developing diabetes.

Scientists at deCODE genetics Genetic Service Facility lab in Iceland

The number of companies offering genetic tests to the public is large and growing. But there are vast and very real differences in the quality, purpose and price of testing services out there. So how do you tell the difference between them? And how do you decide which to use?

Knowing what you want

First and foremost, you need to think about what sort of information you hope to gain from your genome and how accurate you want the results to be. Are you taking the test only for fun, perhaps hoping to talk about your results on Facebook? Or are you interested in using it to protect or improve your health, perhaps working with a doctor? And do you want your information to be kept strictly private so that you are in full control of those with whom you share it, or are you comfortable with others being able to access it and use it?

At deCODE, we have studied the genomes of hundreds of thousands of people over the past twelve years. Our goal has been to discover what variations in the human genome give some people higher or lower than average likelihood of developing many of the most common diseases in our society. We use that information to develop products like genetic tests that can help people to stay as healthy as possible for as long as possible. From day one that’s been our bread and butter – it’s not an idea that occurred to us last week or even last year.

And with that experience, and having worked with so many people, there are a few basic things that we think you should look for in any genetic testing service. These are fundamental characteristics that we demand of ourselves in all of our discovery work, and we think you should settle for nothing less.

Buyer’s checklist

In any field, in order to offer services to the public you have to be able to stand behind the quality of your product. In genetic testing, the basis of any test worth paying for is good science: large-scale studies that establish and then replicate in independent groups links between specific markers in the genome and specific traits, such as diseases. Making those links requires gathering large sets of very high quality, consistent data. It requires teams of doctors, geneticists and other scientists, as well as certified DNA analysis laboratories, statistical tools and computing power and software to accurately analyze the datasets. If you can do all this under the strictest data and privacy protection protocols in the world, you will reward the participation of your research subjects with peace of mind they deserve.

That’s just for starters. In order to offer a test, you need to be give your customers the same certified quality of DNA analysis, as well as the ability to accurately interpret what the findings of large studies mean for disease risk. In short, you need all the same capabilities and expertise as for research, but focused on accurately and securely delivering results to individuals.

The gold standard

These are the standards that lie behind deCODEme and all our diagnostic tests. We offer the best science, usually our own, as our scientists lead the world in finding genetic risk factors for common diseases. Where we do use discoveries made by others, our scientists have validated the findings according to our own rigorous criteria. We have our own CLIA-certified DNA analysis laboratory, one of the largest of its kind in the world, and do our own quality control. We share your results with no one but those you specifically request. We offer our customers the ability to check whether they carry validated risk factors for dozens of diseases, and update their profiles rapidly and regularly as new discoveries are made. This isn’t trivial stuff, and our prices reflect the quality of the products we offer.

Don’t just take our word for it: the value of deCODE tests is reflected most clearly in the stories of customers like you. On this blog you can read about what they have to say about how they are using their results to better look after their own health.

Your genome, your choice

This is a high bar, and one that few others will pass. Can you find cheaper services out there? Yes. Are there dot-com storefronts that outsource the science and the analysis of your genome? Yes. That are focused less on quality and more on website bells-and-whistles for using your genome for social networking? Yes again.

But your genome is yours, and we think you have a right to choose the best for yourself if that’s what you want. At deCODE we are not offering cut-rate services, outsourcing the analysis of your genome, or cutting corners on privacy protection. We give you a portal into the best and latest in genetics, offering the highest quality services available for those who want to know how the latest breakthroughs in human genetics can be used to improve their health and healthcare. If that’s you, we encourage you to check how other services stack up to deCODE – and we look forward to hearing from you!

Urinary bladder cancer is something many people have never heard of. But it is the sixth most common form of cancer in the United States, and its environmental risk factors include exposure to toxic chemicals, including some used in industrial processing as well as cigarette smoke. Genetic factors also play a role and may help to elucidate how bladder cancer starts and develops.

Today, deCODE’s cancer group and colleagues at Radboud University in the Netherlands report the discovery of two single letter variants (commonly referred to as SNPs) in the human genome that confer increased risk of bladder cancer. Both are common, and 20 percent of people of European descent carry two copies of the highest impact SNP, located on chromosome 8q24. That puts them at about 50 percent higher likelihood of developing bladder cancer than people who do not carry the variant.

Since risk screening for bladder cancer has been largely confined to those with known exposure to carcinogenic substances, the ability to test for these variants may useful particularly for those know to have other risk factors. As with all our discoveries, we have worked hard to publish them and to secure intellectual property rights to enable us to put these findings straight to use. deCODE has integrated these findings into deCODEme, so that individuals and their doctors can utilize these findings if it is warranted.

Another intriguing aspect of the paper published today in Nature Genetics is that over the past year deCODE and others have linked SNPs on the same stretch of chromosome 8 to risk of prostate, breast and colorectal cancer. We are looking into what common processes may be triggered or affected by these variants, since a common mechanism might be able to tell us something about the underlying molecular causes of cancer in general.

Official deCODE Genetics Press Release:

Contacts:
Edward Farmer Gisli Arnason
+1 646 417 4555 +354 570 1825
edward.farmer@decode.is gisli.arnason@decode.is

deCODE and Radboud University Discover Common Variants in the Human Genome Conferring Risk of Bladder Cancer

Detection may be used to complement and target screening for the disease; findings will be integrated into the deCODEme™ personal genome scan.

Reykjavik, ICELAND, September 14, 2008 – Scientists at deCODE genetics (Nasdaq:DCGN) and colleagues at Radboud University Medical Center in the Netherlands today report the discovery of two common single-letter variants in the human genome (SNPs) that confer increased risk of urinary bladder cancer. Approximately 20% of people of European descent carry two copies of the first variant, a version of a SNP on chromosome 8q24, putting them at a 50% higher risk of developing bladder cancer than those without the variant. Individuals who carry two copies of a common version of another SNP on chromosome 3 were found to be at a 40% higher risk of the disease than non-carriers. These are the best-replicated genetic variants ever linked to bladder cancer risk, and the study analysed genotypic data from more than 40,000 patients and controls from Iceland, the Netherlands and eight other European countries. The paper, entitled ‘Sequence variant on 8q24 confers susceptibility to urinary bladder cancer,’ will appear today in the online edition of Nature Genetics at www.nature.com/ng.

“In all cancers, the ability to identify individuals at high risk, screening them intensively and intervening early, is the key to improving prevention and outcomes. We expect that the detection of these and other risk variants will soon be employed to complement the assessment of standard risk factors for bladder cancer. As with all of our discovery work, we seek to publish our findings and establish a solid intellectual property position in order to bring these swiftly into the healthcare arena, and have already folded today’s findings into our deCODEme™ personal genome analysis service. At the same time, we are working to identify the common thread of variants we and others have discovered on chromosome 8q24 that confer risk of several forms of cancer, including prostate, breast, colorectal and now bladder. If a common molecular mechanism exists, it could provide an important insight into oncogenesis more broadly,” said Kari Stefansson, CEO of deCODE.

For a more detailed discussion of today’s findings you can watch a video discussion between Dr. Stefansson and Dr. Simon Stacey on our blog, at www.decodeyou.com.

Urinary bladder cancer is the sixth most common type of cancer in the United States. It is estimated that 68,810 individuals will be diagnosed with bladder cancer in the United States during 2008 and that 14,100 people will die of the disease. Bladder cancer has been linked to exposure to various types of toxic substances such as cigarette smoke and industrial chemicals. Although it has been known for some time that genetic factors also play a significant role, identifying validated genetic risk variants had been problematic. Incidence of bladder cancer varies considerably between ethnicities, and as the risk factors reported here were discovered by analysing DNA from groups of European descent, it is our hope that the publication of these findings will contribute to the swift analysis of the impact of these variants in cohorts of other continental ancestries.

The authors wish to thank the thousands of patients and control subjects who participated in this study, and acknowledge the assistance of national cancer registries that worked to identify potential participants. Data and sample collection in Iceland and the Netherlands was funded in part by European commission grants LSHC-CT-2005-018827 and LSHM-CT-2004-005166.

About deCODE
deCODE is a biopharmaceutical company applying its discoveries in human genetics to the development of diagnostics and drugs for common diseases. deCODE is a global leader in gene discovery — our population approach and resources have enabled us to isolate key genes contributing to major public health challenges from cardiovascular disease to cancer, genes that are providing us with drug targets rooted in the basic biology of disease. Through its CLIA-registered laboratory, deCODE is offering a growing range of DNA-based tests for gauging risk and empowering prevention of common diseases, including deCODE T2™ for type 2 diabetes; deCODE AF™ for atrial fibrillation and stroke; deCODE MI™ for heart attack; deCODE ProCa™ for prostate cancer; and deCODE Glaucoma™ for a major type of glaucoma. deCODE is delivering on the promise of the new genetics.SM Visit us on the web at www.decode.com; on our diagnostics site at www.decodediagnostics.com; for our pioneering personal genome analysis service, at www.decodeme.com; and on our blog at www.decodeyou.com.

Any statements contained in this presentation that relate to future plans, events or performance are forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. These forward-looking statements are subject to a number of risks and uncertainties that could cause actual results, and the timing of events, to differ materially from those described in the forward-looking statements. These risks and uncertainties include, among others, those relating to our ability to obtain financing and to form collaborative relationships, uncertainty regarding potential future deterioration in the market for auction rate securities which could result in additional permanent impairment charges, our ability to develop and market diagnostic products, the level of third party reimbursement for our products, risks related to preclinical and clinical development of pharmaceutical products, including the identification of compounds and the completion of clinical trials, the effect of government regulation and the regulatory approval processes, market acceptance, our ability to obtain and protect intellectual property rights for our products, dependence on collaborative relationships, the effect of competitive products, industry trends and other risks identified in deCODE’s filings with the Securities and Exchange Commission, including, without limitation, the risk factors identified in our most recent Annual Report on Form 10-K and any updates to those risk factors filed from time to time in our Quarterly Reports on Form 10-Q or Current Reports on Form 8-K. deCODE undertakes no obligation to update or alter these forward-looking statements as a result of new information, future events or otherwise.

Here are a few thoughts on Nic Fleming’s piece on personal genome scans, of which one was our own, deCODEme:

Our genomes are all remarkably similar. And so it is the differences that are most interesting and important, and that make us who we are.

The same can be said of genetic testing services. We at deCODE were not at all surprised that Mr. Fleming found that he got some varying results from the three genome scans that he tried. Indeed we would be surprised (and more than a little dismayed) if he hadn’t. Analyzing the genome – accurately detecting which genetic markers individuals have at specific points in the genome, and correlating these variations with risk of a range of common diseases – has been our bread and butter for well over a decade. With the analysis of hundreds of thousands of genomes under our belt, we can say with some authority that it is not a trivial business. We would never ourselves rely on consultants to tell us what variants to look for, what they mean, or to oversee the genotypic analysis itself. And we certainly would not offer such treatment to doctors or members of the public.

That said, it would be a strange logic that therefore suggests that the whole field, or the very well validated science that now exists linking specific markers to risk of common diseases, should be lumped in together as though all are nothing but dot-com storefronts selling DNA analysis today where they might have been selling sofas last year. deCODEme or our diagnostic tests, for example, only detect risk variants that meet exacting criteria: they must have been published in peer-reviewed scientific journals and replicated in large cohorts from several populations. Many genetic risk factors for common diseases have passed this high bar, and have thus been as well validated, as most non-genetic risk factors were when they were first brought into clinical use. As Mr. Fleming notes, there are physicians who are incorporating genetic risk factors into their clinical practice and with some important successes that individuals have been willing to share with the world. (We are posting some of these stories on this blog and on the personal stories page of deCODEme).

So, as suggested by Mr. Fleming’s piece and by Lord Taverne and others he interviewed, it is of pressing importance to establish high scientific and technical standards and regulations for such tests. We therefore hope that the Human Genetics Commission, and other oversight bodies in Europe, the US, and elsewhere will continue to scrutinize how best to provide an effective sheriff for this new territory. Doing so will enable individuals and the healthcare system to take full benefit from the potential of this new technology, while protecting the public from unscrupulous cowboys. At the least – since some people like cavorting with fun-loving bandit types – everyone would know who was who.

Edward Farmer
Chief Communications Officer
deCODE genetics

By Edward Weinman

With a simple swab from the inside of your cheek, deCODE genetics can scan your DNA, map your markers and assess your risk of developing 29 common diseases. Edward Weinman, self-described hypochondriac, wonders if he should look too closely at his possible future.

Fifteen hundred Americans will die of cancer today. Tomorrow, another 1,500 will perish. And the day after tomorrow: yet another 1,500.

While I’ve never had cancer (knock on wood) I know how the disease changes lives. My grandmother died from it. My brother has non-Hodgkin’s lymphoma, although thankfully it’s currently in remission after a lengthy round of chemotherapy. Cancer is scary. It accounts for one out of every four deaths. According to the American Cancer Society, cancer is the second leading cause of death in the US, behind heart disease.
Oh, yeah. Heart disease. The great American killer. Heart disease kills 652,486 Americans per year, according to the National Center for Health Statistics. Let’s not forget Alzheimer’s, no pun intended. This cruel disease that strips us of our memories is the sixth leading cause of death, and rising. Every 71 seconds, someone develops Alzheimer’s, including my mother. It’s hard to face the fact there is almost nothing we can do about some diseases, except prepare ourselves and our loved ones for the eventuality.
On the other hand, there are so-called killer diseases on which we can have a positive impact. We cut back on fatty foods and load up on vegetables. We increase our daily intake of fiber by eating cereal that tastes like bark dust. We pop vitamins. We spend time in the gym, going from workout station to workout station like a rat in a cage. Some of us work through crossword puzzles in the hope that mental gymnastics will keep plague from forming in our brains.

But are these healthy habits enough? Is there something more I can do to protect myself from these killer diseases?

For about $1000, deCODE will scan my genome for genetic markers linked to such killers as heart disease, diabetes, certain types of cancer and Alzheimer’s. All that’s required is for me to order a kit, swab the inside of my cheek, drop the swab into the mail, wait a few weeks and then log on to decodeme.com to view my results.

According to deCODE, discovering an inherited propensity toward a particular illness can motivate individuals to get more frequent checkups, take preventive medicines or make lifestyle changes to try to ward off the specter of disease.

But is it really a good idea for a hypochondriac like myself to know my own DNA? What if I discover that I have a high risk of heart disease? Will I soon be hauling myself off to the ER complaining of chest pains? Until recently, my view is that it would have been better to live and hope for the best rather than discover I have a high probability of developing a fatal condition. Ignorance is bliss.

Then my mother fell ill. And my brother got sick. As far as my own health, I exercise like a banshee. However, despite all the hours logged in the gym, I’ve taken more than one trip to the ER because of chest pains. I’ve had EKGs, stress tests, even a CT angiogram which all revealed that my heart was strong. The cause of my chest pains: stomach ulcers and, later, anxiety. But that helpless feeling of lying in the ER as doctors connect EKG leads to my chest sometimes returns. I worry about my health more than most 41-year-olds. So maybe a genetic test is exactly what I need to put my mind at rest.

Yes, I want to arm myself with as much information as possible in order to fight what might be coming, or at least prepare for what might await me on the horizon.

“We need to empower people,” says Dr. Robert Superko, author of the book Before the Heart Attacks, and executive director of the Center for Genomics and Human Health at the St Joseph’s Translational Research Institute. “If a genetic test prompts people to do what’s right for them then we have accomplished our goal.”
I order the kit.

Sitting at my laptop, logged on to deCODEme.com, the genetic secrets to my future health are only a mouse click away. I can click to see my inherent risks of contracting all 29 of the diseases deCODE tests for, or click on the results one disease at a time, leaving the scary diseases for later, or not at all. It’s my choice.

I’m not really concerned about whether or not I’m lactose intolerant. I’m not too worried about Celiac disease, or restless-leg syndrome. No, I’m sweating over the Alpha diseases: Prostate Cancer. Alzheimer’s. Heart Disease. What if my test results portend to a future weighted down by Chemo, or if I’ll one day take Arecept, or have a stent inserted into my arteries?

I demur. You know, no news is good news. The last thing a hypochondriac like myself needs is a fortuneteller mapping out my future in a pack of tarot cards. I understand that information is power, but what about Alzheimer’s? If my risk is relatively high, I can whittle down pencil after pencil working on the NY Times crossword and not really reduce my risk, even if I throw in a few Sudoku puzzles for good measure.
“The test is a way of bringing patient and doctor together,” says Dr. Jeffrey Gulcher, deCODE’s chief scientific advisor. “The test gives you a risk assessment, and then you and your doctor can figure out what to do about it.”

So the test is not definitive. It’s not a diagnostic tool in the usual sense. If I have a higher than normal inherited risk of heart disease that doesn’t mean I have to replace my artery clogging Ben & Jerry’s Chocolate Fudge Brownie with apple slices. If my risk of Alzheimer’s is high I’m not going to have to purchase an identity bracelet with my name, address and phone number engraved on it in case I get lost.

“The genetic test is analogous to a cholesterol test,” says Dr. Gulcher. “Just because you have high cholesterol, doesn’t mean you’ll have a heart attack. Just because you have low cholesterol, doesn’t mean you’re off the hook.”

I breathe a sigh of relief. I can look at my results without breaking out into a cold sweat. My DNA results aren’t going to say: “Tomorrow, Edward Weinman, you’ll contract cancer.”

Then again, Dr. Gulcher’s recent health issues suggest that comparing the deCODEme genetic test to a cholesterol screening is not all together an accurate analogy. Months ago, Dr. Gulcher took the swab, and his genetic profile revealed that he had a 30 percent lifetime risk of contracting prostate cancer. At 48, Gulcher was still two years away from when most medical experts believe prostate screening should begin.
How did Dr. Gulcher take the news? He was empowered. Dr. Gulcher took a standard blood test measuring his prostate-specific antigen, or PSA, which showed he was at the high end of normal. This data, combined with Dr. Gulcher’s DNA test, compelled his doctor to refer Gulcher to a urologist who performed an exploratory biopsy. The biopsy’s result? “A fairly aggressive form of cancer,” Dr. Gulcher recalls. Thankfully, Dr. Gulcher’s cancer had not spread to other parts of his body, and he underwent surgery to remove the cancer. Dr. Gulcher has just had his catheter removed when I ask him if deCODE’s genetic test saved his life.
“I can’t say for sure, but it’s likely it did. I had a tumor at the time of diagnosis. There is a good chance that tumor would’ve already spread” by the time he went in for a normal PSA screening at the age of 50.
Okay, I’m convinced. Time to decode my DNA. I click on the link and my test results are revealed:
My relative genetic risk for Alzheimer’s is 1.74, translating into a lifetime risk of 10.5 percent.

Not so bad, right? Not exactly. The average risk of contracting the disease is 6.4 percent. So I’m higher than average. But what stands out like a scar on a model’s face is when I look at the percentage of the population at a less or equal risk to me: 97.2 percent. In other words, only 2.8 percent of the population has a higher risk of contracting Alzheimer’s than I do.

So what does this mean?

“We emphasize that these are not determinative factors. They reflect risk. Relative risk,” Dr. Gulcher tells me.
He’s got a point. When I look at my risk of becoming obese I realize these results must be taken with a grain or two of salt. My DNA says that my relative genetic risk for obesity is .80, translating into a 31.6 percent chance of becoming fat. I chuckle, because I work out four to five days a week, and I’m what you might call skinny, or as I prefer, lean and toned. Plus, my metabolism works at hyper speed. At 41, I can proudly say that I have a six-pack. So a 31.6 percent risk of becoming fat? I don’t think so. (There’s no need to elaborate more because this grain or two of salt is refuted below, in that the test is necessary, and one that can improve health. One must always present the counter argument to make the argument stronger.)
Again, deCODEme only provides me with information on my “relative” risk of contracting common diseases. It’s not definitive. But can’t I just look at my parents’ and grandparents’ health and the health of my siblings to decode what diseases might afflict me when I grow older? Do I really need to pay $1000 for a genome scan?

“That would work well for certain diseases, like certain types of breast cancer, but common diseases tend to skip generations. Most of us don’t keep track of our genealogy. But that’s what’s going on when we find these common variations.” Dr. Gulcher continues: When we run a test “we are percolating the risk through your family’s history of disease.”

Dr. Gulcher then asks me a question. He curiously wants to know what my top two diseases are in terms of risk. I figure Alzheimer’s is number one, until I scan down my gene profile and learn that I have a 2.3 relative genetic risk of developing Type 2 Diabetes, translating into a 57.5 percent lifetime risk, double the average lifetime risk.

Not a chance. No way is it possible that I’m at risk for diabetes. I’m healthy. I eat right. I exercise. I’m not even close to being overweight. My BMI is perfect. I went so long during my last stress test that the cardiologist asked if I ever ran cross-country competitively. How can I be at risk for Type 2 Diabetes? Surely this proves deCODEme’s genetic test must be taken with many grains of salt. Perhaps this invalidates all my other results.

The doctor draws my blood and ships it off to the lab.

A few days later, I find out that my fasting glucose level is 96 mg/dl. That’s the high end of the normal range but a lot higher than I expected. One indication of pre-diabetes is a fasting glucose level that is between 100 and 125 mg/dl. Talk about a wakeup call. Despite my healthy lifestyle, my glucose levels are too high and that can be nothing other than genetic.

I remember Dr. Gulcher’s words: “The test is a way of bringing patient and doctor together. The test gives you a risk assessment, and then you and your doctor can figure out what to do about it.”
There’s no need to panic, but it is time to make an appointment to see my doctor. It’s time to trade in my Ben & Jerry’s for those apple slices.

Edward Weinman is a freelance writer living in Los Angeles, and a contributor to deCODE’s News Blog. He spent eight years in Iceland, working as a journalist and he co-wrote the film A Little Trip to Heaven.

Science journalist Boonsri Dickinson

Discover magazine reporter Boonsri Dickinson recently tried out deCODEme, as well as two other genetic scans offered by California-based websites. She discusses her results, and talks to several people who question whether genetic scans should be available to the public. Dickinson seems to be happy she had the chance to take a look at her genome, and went over her results with deCODE CEO Kari Stefansson. She notes that as “deCODE is known for discovering genetic risk factors…I decided to use deCODEme to validate the other two,” concluding that “deCODE genetics was authoritative.” Her article, ‘Inside Out: A DNA Diary,’ appeared on newsstands in August and can be found on the Discovermagazine.com website.

deCODE and SGENE Consortium Discover Deletions in the Human Genome Linked to Risk of Schizophrenia

Findings may provide the foundation for a test to complement standard clinical diagnosis, potentially enabling earlier intervention and treatment

A team of scientists led by deCODE genetics has discovered evidence of three rare deletions in the human genome that confer a greater risk of schizophrenia. This discovery shows that individuals who have one of these deletions may be up to 15 times more likely to develop schizophrenia than the population at large. See “Large recurrent microdeletions associated with schizophrenia” which appeared this afternoon in Nature (www.nature.com)

“Schizophrenia is a disorder affecting thoughts and emotions. It is therefore a quintessentially human disease, but one that is little understood biologically and which is difficult to diagnose. These findings are important because they shed light on its causes and provide a first component to a molecular test to aid in clinical diagnosis and intervention. These discoveries also demonstrate one way in which we can use SNP-chips to find rarer genetic factors conferring risk of disease. In many disease areas we have had great success of late in identifying what these chips are best suited to find: common variants conferring relatively modest increases in risk. But we know that individuals with certain mental disorders such as schizophrenia tend to have few children, and thus that we may have to identify a larger number of rare but high risk variants to understand the genetic contribution to susceptibility. It is encouraging that our efforts to use SNP chips to detect rarer variations such as spontaneous deletions and duplications is now bearing fruit,” said Kari Stefansson, CEO of deCODE.

In the recent wave of discoveries of risk variants for common diseases, those associated with mental disorders such as schizophrenia, autism and others have been conspicuously absent. This phenomenon, and the fact that people with these disorders tend to have few children, suggest that rarer and perhaps spontaneously generated variants may account for a greater proportion of the disease burden in these conditions than in others. SNP-chips are not well suited to finding rare SNPs but can, with sufficiently large sample sizes, be used to identify deletions and duplications – known as copy number variations, or CNVs – which can also be carried by healthy individuals in one generation and contribute to risk of disease in the next.