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

Here is a summary of the additions and changes:

FEEDBACK AND RESEARCH

Many deCODEme customers have contacted us, asking whether they could contribute to our research efforts and receive statistical feedback about the deCODEme user community. In response to these wishes, we have introduced optional survey questions about the various traits included in the deCODEme scans. To see the entire list of questions, click the “Feedback and Research” link on the home page that appears when you first log into your deCODEme account. Alternatively, you can see the questions for each trait when you view your results by clicking on the new “Research” tab. Participation is optional and entirely voluntary and you can, at any time, have the questions removed from your account by checking the box marked “I do not want to participate in feedback & research”.

Updates for deCODEme Complete Scan

ANCESTRY UPDATES

A new look for the Female Line and Male line ancestry analyses
The deCODEme web-design and ancestry teams have made several changes to the look and feel of the Female Line and Male Line ancestry analyses. Our aim was not only to make the presentation of your results clearer and more visually pleasing, but also to accommodate new features, some of which have already been introduced (link to More detailed Male Line analysis).

More detailed Male Line analysis
The deCODEme ancestry team has recently updated and expanded the classification of Y-chromosomes in the Male Line analysis. We have added two new Y-groups to our Male Line classification system, bringing the number Y-groups to 24. More importantly, male deCODEme customers can now have their Y-chromosomes classified into one of over 105 Y-subgroups. This provides a much more detailed picture of your genealogical relationship to other people through the male line. Thus, for example, if your Male Line result previously assigned you to Y-group R1b, you can now find out which of the 15 different R1b subgroups you belong to. You are much more closely related to other members of your subgroup through the male line than you are to those who do not belong to that subgroup – even if they belong to the same Y-group as you. Click on the “subgroup tree” tab on your Male Line results page to learn more about your Y subgroup.

HEALTH WATCH UPDATES

New diseases and traits in Health watch

Kidney stones
Kidney stones are small crystals formed of dissolved minerals, mainly calcium, that form in the kidneys. Smaller stones can simply be passed through urination, though larger ones can block the urinary tract, causing considerable pain and bleeding. Kidney stones affect some 5% of women and 10% of men in the industrialized world. We are proud to announce that our scientists at deCODE genetics have just published new scientific results that shed light on genetic variants that affect the risk of developing kidney stones. Within hours of the first report of this exciting new discovery in the scientific literature [link to manuscript on Nature genetics website], deCODEme customers can log into their Complete Scan accounts and examine an estimate of their genetic risk for developing kidney stones! The discovery involves a common genetic variant in the CLDN14 gene on chromosome 21 that is associated with increased concentration of urinary calcium, which in turn leads to an increased risk of developing kidney stones.

ABO blood types
There are four different ABO blood types, named A, B, O and AB. Many people know their ABO blood types, because they are typically assessed by healthcare workers when a person receives blood or donates blood or an organ. This is because it is critically important to match ABO blood types of donors and recipients of blood or organs. Your ABO blood type depends on which kind of glycoprotein or antigen is found on the outside of your blood cells. These glycoproteins come in three forms and are referred to as A, B and O. The gene that determines your ABO blood type is found on chromosome 9 and is called ABO glycosyltransferase. In the simplest terms, this gene may be said to come in three different forms, that is, it has three different alleles. These alleles are also named A, B and O, because each is responsible for the production of its namesake glycoprotein (antigen). It is therefore the combination of alleles that you inherited from your parents that determines which glycoproteins are found on your blood cells and thereby your ABO blood type. The deCODEme genetic scan determines which combination of the three ABO alleles you carry on chromosome 9 and therefore which blood type you are likely to have.

Eye color
Eye color refers to the color of the iris. The color of the iris is determined by the amount and distribution of melanin, a dark brown pigment, which is produced by a special type of cell called the melanocyte. In simple terms, a brown iris contains abundant melanin, whereas a blue iris contains much less melanin. Albinos have an almost complete lack of melanin, resulting in a red or pink iris color (due to the greater visibility of blood vessels through the almost transparent iris). The vast majority of people in the world have brown eyes. It is primarily those of European descent that we find normal variation in eye color, in the form of blue, grey or green colored eyes. While eye color is a trait determined by several genes, some genes seem to play a more important role than others. The deCODEme Genetic Scan identifies a genetic variant associated with blue and brown eye-color in the HERC2 gene on chromosome 15. The results provide an interpretation of the associated likelihood of blue/grey or brown eye color in individuals of European descent.

Statin-induced myopathy
Statins are a group of compounds that are commonly prescribed by physicians for individuals with high cholesterol to reduce risk of cardiovascular diseases. While statins are generally safe and effective, there are some known side-effects. One that affects a minority of those taking statins is a muscle disease called statin-induced myopathy, the symptoms of which include muscle pain and weakness.

As always, we welcome your comments and suggestions and encourage you to visit your deCODEme account frequently to take advantage of regular updates and new features.

Charles Wallace and his wife believe that a deCODEme Complete Scan helped save Chuck's life when it lead to discovering Prostate Cancer. Click on the picture to see Chuck's story.

Dr. Bradley Bale at the the Heart Attack & Stroke Prevention Center is a big believer in deCODE’s tests for genetic risk factors for cardiovascular disease. As he has for many of his patients, Dr. Bale recommended that Charles Wallace, a 55 year-old Texan, have a full deCODEme scan to understand his risk of a range of conditions, including cardiovascular diseases. The breadth of the risk factors analyzed by deCODEme proved to be very important indeed. Mr. Wallace learned that he was at nearly double the average risk of prostate cancer, a piece of information he and Bale followed up on and that Wallace credits with helping to save his life.

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.

deCODE Genotyping Laboratory Receives College of American Pathologists Accreditation

Underscores quality of deCODE’s laboratory and tests, fulfilling key federal and state certification requirements and broadening marketing channels

deCODE genetics CLIA-registered DNA isolation and genotyping laboratory, which processes the company’s deCODEme™ personal genome scans and risk assessment diagnostic tests for several common diseases, has been accredited by the American College of Pathologists (CAP) following a recent inspection. The U.S. Centers for Medicare and Medicaid Services (CMS) has granted the CAP Laboratory Accreditation Program deeming authority, and its accreditations can also be used to meet many state certification requirements.

“We believe that testing for genetic risk factors for common diseases is going to play a central role in refocusing our healthcare system on prevention and early intervention. deCODE has led the way in discovering validated genetic risk factors for diseases with a major impact on public health, and in bringing to market products that put this knowledge in the hands of individuals and their doctors. Quality – in our world-leading science and in-house genotyping and data analysis – sets us apart from our competition in the field of personal genomics. CAP certification serves to emphasize this advantage and will enable us to provide our products to an ever wider public,” said Kari Stefansson, CEO of deCODE.

The CAP Laboratory Accreditation Program, begun in the 1960s, is an internationally recognized program for certifying laboratory quality based upon inspections conducted by practicing laboratory professionals. CAP inspectors examine a laboratory’s records and quality control of precedures for the preceding two years; the qualifications of all staff; equipment and facilities; safety program and record; and overall management. The inspections program is designed to ensure the highest standard of care for all laboratory patients.

About the college of American Pathologists
The College of American Pathologists (CAP) is a medical society that serves more than 17,000 physician members and the laboratory community throughout the world. It is the world’s largest association composed exclusively of pathologists and is widely considered the leader in laboratory quality assurance. The CAP is an advocate for high quality and cost effective medical care.

“This is an excellent opportunity to broaden the clinical application and commercialization of our discoveries of high-impact genetic risk factors for major diseases. The markers included in these agreements are among the most widely replicated genetic risk factors for cardiovascular and metabolic disease, and they provide a natural complement to the biomarker services already offered by Berkeley HeartLab, Celera’s subsidiary.  In Celera we have a partner with a global reputation in human genetics and a large and effective outreach and sales force. We are pleased to have the chance to work with them to build upon our discovery and testing platforms and to accelerate the adoption of personalized medicine,” said Kari Stefansson CEO of deCODE.

“We believe access to these highly replicated markers, which complement our internal proprietary genetic discoveries in cardiovascular disease such as KIF6 and LPA, furthers Celera’s commitment to be a leading provider of genetic tests used routinely in personalizing disease management,” said Kathy Ordoñez, CEO of Celera.  “We expect Berkeley HeartLab to incorporate these markers into future laboratory service offerings, and Celera plans to ultimately commercialize them globally as new molecular diagnostic tests through our Products business.  We believe these markers that predict risk of coronary heart disease and drug response could produce highly differentiated, proprietary, and compelling tests that personalize cardiovascular disease management.”

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.

deCODEme calculates your genetic risk for Multiple Sclerosis

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

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

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

Researchers have for example found that although the disease is not directly inherited, genetics play an important role in who gets the disease.  Studies have revealed that the risk of developing MS for an average person is 1/750 but the risk rises to 1/40 for a person who has a first-degree relative (parent, sibling, child) with the disease. Even though identical twins share the same genetic makeup, the risk for an identical twin is only 1/4, showing that factors other than genetics are involved.

The deCODEme Complete Genetic Scan includes a test that calculates a person’s genetic risk for MS according to the best scientific data available to date. While the test cannot determine whether you will or will not develop MS, it can, on the basis of a comparison of your personal genetics to the genetics of large groups of people with and without MS, give you an estimate of your lifetime risk of developing this disease. This, combined with other risk factors, can give you an estimate of your overall risk.

Other factors involved in the development of MS that have been identified are

• MS is more common in people of Northern European descent than in people of other ethnicities, and more common in women than men.

• Viruses and bacteria have been suspected of contributing to the development of MS because patients with MS typically have a higher number of immune cells than a healthy person. Some researchers theorize that MS may develop in genetically susceptible people, after they have been exposed to a viral or bacterial infection.

• MS is more common in countries with temperate climates, including Europe, southern Canada, northern United States, southeastern Australia and New Zealand. The reason for this is unknown, but geographic studies suggest that it may be due to environmental factors, genetic factors, or both.

Visit The Multiple Sclerosis Association of America for more about the disease
Visit deCODEme to learn more about the Multiple Sclerosis Genetic Test.

The Map of Kinship can be used not only to learn about your relationship to people from the different continents, but also your relationship to populations within the continents.

From a genetic point of view we are all unique, but some individuals are more similar than others. Generally speaking, genetic differences reflect geography. People from the same geographic area tend to be more genetically similar than people from distant parts of the world. This means that the greater your genetic similarity is to a particular population, the more likely you have ancestors that belonged to that group in the past and relatives in the present.

The deCODEme team has recently implemented a new tool, called the Map of Kinship. This tool can be used to explore a person’s ancestry and genealogical relationship to more than 1000 individuals from 53 populations from all over the world.

Map of Kinship rotates in 3D

This tool is based on a powerful statistical method, called principal components analysis, which is used to uncover the hidden patterns of genetic variation that can tell us how closely people are related. Such patterns are of great interest from a historical point of view, as they are the result of thousands of years of migration, from time humans first appeared about 200 thousand years ago and to the present.

In the Map of Kinship, what you see is like a conventional map. However, instead of cities or towns separated by geographical distances, you see the genetic distances between yourself and people from 53 different populations from all the different regions of the world. People from the same population tend to form tight clusters on the Map of Kinship. Likewise, populations from the same regions of the world also tend to cluster together on the map. Your position on the map tells you how closely related you are to the individuals and populations that are shown. The Map of Kinship can be used not only to learn about your relationship to people from the different continents, but also your relationship to populations within the continents. Thus, for example, it can tell you whether your ancestors were mostly from Europe, Africa, Asia or the Americas. If you are most similar to Europeans, then the Map of Kinship will reveal whether your
ancestors were mostly, for example, Scandinavian, Italian, Russian or from the Middle East. If your friends or family have bought a Complete Scan from deCODEme, then you can also see where they fit into your Map of Kinship.

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.

deCODEme customer Anna Peterson on top of Acropolis on a camping trip in Athens.

By: Anna Peterson
I am a fit, healthy, 27 year old Canadian graduate student looking forward to the future. So why, you might wonder, did I decide to take the deCODEme genetic test? It’s simple really. Information is the key to prevention. By learning about my genetic predisposition for different illnesses, I will be better prepared to take an active role in my future health care decisions.
Many of my friends were surprised that I decided to take this comprehensive genetic test. Some were curious about the story my genes would tell, while others wondered whether or not I really wanted to know. When I put my genetic sample in the mail, I felt a little nervous about the chain of events I had set in motion, but curiosity overcame fear. In my opinion, knowledge is power and I’d rather make lifestyle changes in my 20s than in my 60s.

It wasn’t just curiosity that prompted me to take the deCODEme test. I was particularly interested to better understand my genetic predisposition to both breast cancer and age-related macular degeneration (AMD). According to the Canadian Cancer Society, one in nine women is expected to develop breast cancer in her lifetime. While I have been familiar with this statistic for a long time, it becomes much more real when someone you know is affected. Two and a half years ago, my mother’s sister was diagnosed with breast cancer. At arm’s length, I witnessed the impact of a breast cancer diagnosis. This experience, however, did little to prepare me for the phone call I received in June of this year. Tearfully my mother told me how she had found a lump in her breast and that a recent biopsy had confirmed the lump was indeed cancerous. In a few short moments our lives changed forever. Sharing this difficult journey with a woman I love and admire has been a harrowing privilege. But I couldn’t help wondering if I might find myself in a similar position one day. Still years away from my first mammogram, I thought why wait for time to tell. No matter the results, I wanted to know my relative genetic risk of developing breast cancer.

Anna Peterson: "Prevention Starts with Knowing the Odds."

When I logged onto the deCODEme web site to explore my results, I spent several minutes avoiding the link to the breast cancer assessment. A very human hesitation, but I soon realized there was no point staying in the dark. The deCODEme test examines eight genetic variants found to increase the risk of developing breast cancer. The BRCA1 and BRCA2 genes (found in 2-5% of women with breast cancer) are not included in this assessment. My results indicate that the relative genetic risk for someone with my genotype is 1.23. This corresponds to a 14.7% lifetime risk of developing breast cancer, which is 23% greater than for females of European ancestry in general. Not the best news, but certainly not the worst.
To better understand my results, I contacted Dr. Kris Kristjansson, a genetic counselor at deCODE genetics. He stressed that the deCODE test is not a diagnostic tool, so there was no need to be alarmed by what I had learned. He explained the scientific details of my test results in simple terms and brought the Gail Model risk assessment tool to my attention. This tool, originally developed for physicians and now freely available on the web, calculates the impact of non-genetic factors to estimate a woman’s five year and lifetime risk of developing breast cancer. Taken together, the deCODEme test and the Gail Model provide a more complete approximation of a woman’s lifetime risk of developing breast cancer. Entering my age at 35, the Gail Model risk assessment tool estimated my lifetime risk of developing breast cancer at 17.6%, which is above the average 12.6% lifetime risk. To calculate the combined assessment I simply multiplied my deCODEme result of 1.23 with the Gail Model result of 17.6 for a total of 21.6. I now know that I am at higher risk of developing breast cancer from both genetic and non-genetic factors. With a 21.6% lifetime risk of developing breast cancer, I will have to be vigilant. Letting out a breath I didn’t realize I was holding, I still felt good about my choice not to walk blindly into the future. The results of my deCODEme test and the Gail Model have given me the tools to advocate for early screening and a renewed commitment to making positive lifestyle choices.

Anna Peterson on a backpacking trip.

How we live our lives today has a tremendous impact on the quality of life we will enjoy in the future. I chose to take the deCODEme complete scan because I also wanted to learn about my genetic predisposition for developing age-related macular degeneration (AMD). My grandmother developed AMD in her mid 70s and, for years, I have wondered if I would one day be among the 40% of Canadians over the age of 75 to develop AMD. I was born with an untreatable visual impairment in one eye and the challenges of growing up with limited sight have made me uniquely aware of the reality of blindness. I have silently worried about the possibility of one-day loosing my sight in both eyes. The deCODE genetic test revealed that the lifetime risk for someone with my genotype is only 2%, which is 75% less than for people of European ancestry in general. I am delighted to know that I have excellent genetic chances of avoiding this debilitating illness.
Before taking the deCODEme test, I never gave skin cancer a second thought (save to lather on sunscreen at the beach). Yet skin cancer is one of the most common cancers in the world. According to the National Cancer Institute of Canada, environmental and genetic factors are thought to play a role in basal cell carcinoma, which accounts for 80% of all skin cancers. Scientists at deCODE genetics have identified two genetic variants that appear to act independently from exposure to UV radiation.
It never occurred to me that I might be genetically predisposed to developing basal cell carcinoma. So you can imagine my surprise, when my results indicated a 45.9% lifetime risk for someone with my genotype. A few days ago, I knew nothing about basal cell carcinoma and now I’m beginning to realize I might come to know this disease all too well in the future.
Eager to learn more, I called home to speak with my parents. My test results provided the perfect opportunity to discuss our family medical history. I soon learned that my grandfather had “skin cancer” (possibly basal cell carcinoma) in his late 60s. For the first time, I understood my mother’s frequent visits to the dermatologist to have moles examined or removed. While she had been aware of a potential risk to herself, none of us had considered that I might also be at risk. No need to panic, however. In fact, I am grateful for the knowledge and the opportunity to take the steps necessary to protect myself now and hopefully avoid this illness in the future.

Anna Peterson camping

Genetic testing is a revolutionary way to protect yourself and the ones you love from unknowns and potential future illness. My genetic makeup isn’t going to change but, through this experience, I have changed. I’ve relaxed my concerns about 13 diseases (AMD, glaucoma, multiple sclerosis, etc.) and have learned of other conditions such as breast and skin cancer that I can now keep an eye on in the future. Empowered by a greater understanding of my genetic predisposition to different illnesses, I have become even more proactive about prevention.

Anna Peterson

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.

Pam Bale is going to get her three grown-up children a deCODEme genetic test for Christmas

Pam Bale knows what she wants to get her three children for Christmas. Two of Pam’s children are in their 20s and the other is 30. In other words, a little too old for video games. So they’re not getting a Wii or Guitar Hero. Instead, Pam wants to surprise her kids on December 25th with a genetic test.

“I think the kit would open up all sorts of doors to their future,” says Pam. “They are young adults, and at their ages the test can show them what medical concerns they might face down the road. They are young enough so they can take the steps to avoid those concerns. It would make their whole future happier and healthier and extend their lives. I think it’s a great gift to give to my kids. So don’t tell them. I don’t want to ruin the surprise.”

For the whole interview with Pam Bale go to deCODEme Customer Stories.

Genetic test customer Pamela Ayers and her grand-children, Spokane, WA

After watching her parents and brother suffer with diseases that might have been prevented with the right care, Pam Ayers has become vehemently proactive. She now believes that genetic health scans are the way of the future and early testing could help parents change their own and their children’s life-style for the better. This proud grandmother is taking care of her family.

Read the whole interview with Pamela Ayers in the Customer Stories section of deCODEme.

Time magazine's Best Inventions of 2008: The Retail DNA Test

deCODE staffers were buzzing about Time magazine’s announcement this week of its best invention of 2008: the retail DNA test. As the creators of deCODEme, the first personal genome scan on the market, deCODE staff members were not about to quibble about the date (deCODEme was actually launched on November 16, 2007).

Indeed, the value of deCODE’s capabilities and service is perhaps best demonstrated by the launch of web portals offering similar services based largely upon deCODE’s discoveries, and Time’s article underscored the potential of this new field by devoting considerable attention to the high-powered tech luminaries who have come chasing deCODEme’s tail.

But what sets deCODE apart from the pack is not that it was the first personal genome analysis service to hit the market, but that it grew out of the biggest and to date most successful effort to discover the genetic factors that increase individual risk of public health challenges like from heart attack and breast cancer. More than a dozen years of large-scale research in human genetics, with the experience of having analyzed the genomes of hundreds of thousands of people, really does count.

The competition clearly feels the weight of deCODE’s advantage, which Time highlighted last year when it named CEO Kari Stefansson to the Time 100 list for the company’s pioneering work in genetics. As Time quotes the founder of a deCODEme competitor: “We could make great discoveries if we just had more information.” Perhaps, but fortunately with deCODEme the public doesn’t have to wait for the dot-commers to bone up on their genetics.

Congratulations again to the deCODEme team!

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

Tapping the vast resources of deCODEme scientists

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

Question
“I’m seriously thinking about doing the DNA test. Now I only have to decide from which company. How does your test compare with tests from other companies?”

Response
There are a few key differences between the services of deCODEme and its competitors.
deCODEme is provided by a company called deCODE genetics. Scientists at deCODE genetics have been carrying out research on human genetics for over a decade and have already produced a very large portion of validated discoveries of variations in the human genome that confer risk for common diseases. Our mission at deCODE genetics is to use genetics to help people to improve their health, and one of the ways we do that is by offering the deCODEme service. The same scientists, statisticians and geneticists who actually discovered the genes engaged in making that information useful to the public. At the same time they are continue to publish the results in the best scientific journals and have been doing so many years. Now, additionally, they simultaneously make those articles available on the deCODEme customer’s profiles.

However, it is also important to note that not only do we use our own internal expertise to develop our products, process your sample and analyze the resulting data , but we also give you direct access to this expertise, should you have any clinical or scientific questions. Our clinical support team includes an MD medical geneticist and genetic counselors that you will have access to at no extra cost. In contrast, most other companies offering DNA analysis are only acting middle-men and have to outsource much of the sample processing.

Another key difference is that the deCODEme analysis consists of information on 1 million markers, while our can only offer less than two thirds of that total. This means that if you have a deCODEme profile we can provide you with higher coverage now and significantly higher quality analysis of future research findings as we make new discoveries.

Our strategy is to offer a product that is as good and as useful as possible, which is how we provide real and long-term value to deCODEme customers. We have posted an entry on this subject on our blog.

The results are presented in a simple and clear format.
deCODEme provides a report on your sample on the www.decodeme.com website that you can unlock with your password. The report will contain your actual genotypes for the SNPs in question. Additionally, you will be provided with the raw data of the complete scan, i.e. about 1 million SNP genotypes. Reference to published scientific findings relevant to your results are also a part of the report, and are individually linked to each marker that is analyzed.

The report contains a disclaimer that although a SNP is individually associated with disease risk in deCODE´s own population studies, deCODE cannot predict how that SNP will interact with variants at other SNPs in any particular person.

There is a Site Tour available now on the website under “What is deCODEme” on our website. In addition there is a FAQ (frequently asked questions) section on the website.

The deCODEme browser.
We have recently introduced the deCODEme Genome Browser, a highly sophisticated on-site tool that enables to explore your results in detail. The Genome Browser is accessible on on the deCODEme website.

Best regards,

deCODEme customer support.