Dr. Kari Stefansson receives Jahre Award - Photo by Francesco Saggio, University of Oslo

In a ceremony held this evening in Oslo, deCODE founder and CEO Kari Stefansson received the Anders Jahre Award for Medical Research. One of the most prestigious medical prizes in the Nordic countries, it was awarded in recognition of Dr. Stefansson’s leading contribution to increasing understanding of the genetic factors involved in common, complex diseases. The selection committee noted that this work has been driven by deCODE’s population approach, and by the participation of a large proportion of the Icelandic population in the company’s gene discovery programs.

Photo by Francesco Saggio, University of Oslo

Photo by Francesco Saggio, University of Oslo

Knowing your risk for Chronic Kidney Disease through a deCODEme DNA scan can increase your awareness and empower you to take preventive steps to protect your kidneys.

Chronic Kidney Disease has been added to the deCODEme Complete Scan. Chronic Kidney Disease involves the gradual loss of kidney function over time that can ultimately lead to kidney failure. It typically develops as a result of other common diseases, primarily diabetes, high blood pressure and obesity, but not everyone has the same risk of developing Chronic Kidney Disease. Research suggests that this disease has a strong familial component.

In the U.S., an estimated 26 million adults have Chronic Kidney Disease, but most of them do not know it. The kidneys have such a remarkable ability to compensate for problems in their function, that there may be no symptoms of Chronic Kidney Disease until it has progressed considerably.

Recently, scientists identified a common genetic variant (rs4293393-T), associated with increased risk of Chronic Kidney Disease. deCODEme has incorporated these results into the complete genetic scan, which analyzes your DNA and provides you with a personalized risk assessment for Chronic Kidney Disease and about many other diseases, including diabetes, obesity and kidney stones.

Chronic Kidney Disease is a growing problem in the U.S. and in other western parts of the world, Knowing your risk for Chronic Kidney Disease can increase your awareness and empower you to take preventive steps to protect your kidneys.

deCODEme Complete Scan now includes Testicular Cancer

At deCODEme, we believe that when it comes to planning your preventive health efforts, your genetic profile is the place to start. This month we have added two new diseases, both of which are highly curable if caught early.

If you are a deCODEme customer who has bought our Complete Scan, your account now includes a personalized genetic risk assessment for:

Testicular Cancer of males, and Ovarian Cancer of females.

Our scientists have also added more genetic details to the risk assessment for Prostate Cancer, which now includes a total of 25 genetic risk variants for customers of the Complete Scan.

deCODEme DNA test now includes Ovarian Cancer

Ovarian cancer is the eighth most common cancer in women. Based on ovarian cancer statistics in the U.S., it is expected that 1.4% of women born today will be diagnosed with cancer of the ovary at some point during their lifetime. This represents the lifetime risk of ovarian cancer and means that 1 out of every 71 women will be diagnosed with this disease during their lifetime. deCODEme Complete Scan now includes risk calculation for Ovarian Cancer.

Genetics is a major risk factor for ovarian cancer

Although many environmental and lifestyle factors affect the risk of ovarian cancer, the single greatest known risk factor is a family history of the disease. This indicates that genetics is a major risk factor. Scientists already know that variants in the BRCA1 and BRCA2 genes significantly increase a woman’s chances of developing ovarian cancer. However, these variants are rare and account for less than 5% of all ovarian cancers. Recently, scientists have discovered a common variant on chromosome 9 that can increase a woman’s risk of developing the most common type of ovarian cancer (epithelial cancer). This variant is found in approximately 70% of women of European descent.

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

deCODEme provides personalized access to some of the first genetic variants recently linked to the most common type of brain cancer - Glioma

There are various types of brain cancer. Brain cancer can be primary, when it starts from cells in the brain, or secondary, when the cancer starts in another part of the body (for example in the lung or breast) and spreads to the brain through the bloodstream (that is through metastasis). Brain tumors can also be either benign (non-cancerous) or malignant (with cancer cells that multiply uncontrollably).

A glioma is a malignant primary brain cancer that originates from so-called glial cells found within the brain. There are several different types of gliomas determined by the type of glial cell that gives rise to the tumor. Although gliomas are rare, they are the most common type of primary malignant brain tumor in adults. They account for up to 80% of all brain cancer cases, with around 21,000 individuals diagnosed every year in the USA.

You may have heard about glioma in the news recently as this was the type of malignant brain cancer that recently claimed Senator Edward M. Kennedy’s life at age 77. The causes of gliomas are largely unknown. However, scientists have long suspected that genes play a role, making some individuals more likely than others to develop brain cancer. Now some of these genes have been found. A study published in Nature Genetics in July, 2009, reports on the identification of the first common genetic variants known to contribute to an increased risk of developing this type of brain cancer. The deCODEme team has reviewed these findings and added them to the deCODEme Genetic Scan . On the basis of this newly published knowledge, we can now provide customers of European descent with a personalized interpretation of their genetic risk for developing a glioma-type brain cancer.

deCODE Discovers Second Common Genetic Risk Factor for Atrial Fibrillation and Stroke. Will be integrated into deCODE AF™ DNA-based risk assessment test, and into the deCODEme™ and deCODEme Cardio™ scans.

Scientists at deCODE genetics and colleagues from Europe and the United States today report the discovery of a common single-letter variant in the sequence of the human genome (SNP) conferring increased risk of atrial fibrillation (AF) and stroke. The findings will be integrated directly into the deCODE AF™ reference laboratory test for gauging individual risk of AF and stroke and helping to identify stroke patients who may benefit from enhanced monitoring for AF. The study is published online today in Nature Genetics.

The new SNP is in the ZFHX3 gene on chromosome 16q22, and the more than one third of people of European descent who carry one copy are at approximately 20% greater risk of AF and cardioembolic stroke than are individuals who carry none. AF is the most common type of cardiac arrhythmia, and is a major risk factor for stroke. Because AF is often intermittent and difficult to detect, gauging genetic susceptibility can help doctors to decide which of their stroke patients might benefit from longer-term monitoring for AF following a stroke. Those with stroke due to AF may be given different therapy than they would otherwise. This is the purpose of deCODE AF™, at the heart of which is the major AF and stroke variant discovered by deCODE on 4q25. Indeed today’s findings are the result of deCODE’s program to build on this work and to find new risk variants. After expanding their genome-wide association study in Iceland, the deCODE team took the top SNPs outside the 4q25 region and typed them in case-control cohorts from Iceland, Norway and the United States. This confirmed the ZFHX3 SNP as a risk variant for AF. Analysis in stroke cohorts from Iceland, Germany, Sweden and the UK demonstrated that this SNP was associated with increased risk of stroke, particularly cardioembolic stroke.

“This is an important discovery and all the more gratifying because we can integrate it straight into a test that is already helping to improve patient care in the clinic.
As with our 4q25 variant, this latest discovery has been replicated in numerous populations by us and others, and the connection to cardioembolic stroke is yet further evidence that we are putting our finger on an important pathway involved in AF and stroke risk. The ability to routinely test for these risk factors means that we can understand whom we should screen intensively for AF and then prescribe the drugs most suited to the cause of a particular patient’s disease. This is the sort of personalized medicine that genetics is enabling – individualized care that may mean not only better outcomes but significant potential savings to the healthcare system. Discoveries like this are the foundation upon which this transformation is being made,” said Kari Stefansson, CEO of deCODE.

deCODE and the authors wish to thank the participants who took part in this study and made it possible. Financial support for this study was provided by US National Institutes of Health grants HL075266 and U01 HL65962 and American Heart Association grant 0940116N; by the German Federal Ministry of Education and Research (01GI9909/3), by the German Migraine & Headache Society (DMKG), and by unrestricted grants of equal share from Astra Zeneca, Berlin Chemie, Boots Healthcare, Glaxo-Smith-Kline, McNeil Pharma, MSD Sharp & Dohme and Pfizer to the University of Muenster.

It’s Not Just the Sun: deCODE Discovers Sequence Variants Affecting Susceptibility to Skin Cancer.

Scientists at deCODE genetics and academic colleagues from Europe and the United States today present in the journal Nature Genetics the discovery of common genetic risk factors for basal cell carcinoma (BCC) that affect people with fair and dark complexions alike. deCODE had previously discovered five common single-letter variants in the sequence of the human genome (SNPs) linked to risk of BCC, the most common cancer in people of European descent. However, most of these earlier findings were also correlated with fair skin, well known to accompany vulnerability to the damaging effects of ultraviolet radiation in sunlight. By contrast, three of the SNPs presented today do not correlate with light pigmentation…

and may thus provide new insight into the underlying biological perturbations that lead to BCC independent of environmental exposure. One of these, in the keratin 5 (KRT5) gene on chromosome 12, leads to a subtle but potentially damaging alteration to the KRT5 protein, which supports the structural integrity of the skin. Those with one copy of the variant are at more than 30% greater likelihood of developing BCC than those who do not carry the variant, while those who carry two copies are at more than 50% greater risk. Another of the SNPs is located on chromosome 9p21, the same region of the genome that deCODE has linked to increased risk of heart attack and others have linked to type 2 diabetes. deCODE used its population genetics resources in Iceland to demonstrate that a third risk variant, on chromosome 7q32, confers greater risk if inherited from the father than from the mother.

“It is important to find genetic causes of BCC that do not appear to be modulated directly by sensitivity to the sun. This may bring us closer to understanding the underlying biology of a very common form of cancer, and KRT5 in particular may point us to new pathways for developing new drugs or skin care products. We are also pleased to be able to fold these discoveries directly into our deCODEme™ scans. For sun exposure is still the most important risk factor for BCC, and while people with fair skin are already aware of the need to protect themselves when they go outdoors, others with darker complexions may also be at higher risk of BCC than they think. This is also one of the first reports of a sequence variant conferring risk of a disease that is dependent on the parent of origin. With all of our findings over the past year, we believe we have found variants that play a role in most cases of BCC,” said Kari Stefansson, CEO of deCODE.

The study also provided conclusive evidence that a previously identified SNP in the TERT-CLPTM1L region of chromosome 5 confers susceptibility to BCC but protects agains cutaneous melanoma. A previously known SNP in the SLC45A2 gene on chromosome 5 was confirmed to confer risk of squamous cell carcinoma as well as BCC. The study involved three stages. First, the SNPs with the best results from previous genome-wide scans of more than 300,000 SNPs were tested in large numbers of individuals with and without BCC. The first two phases included participants from Iceland, The Netherlands, Sweden, Germany, Italy, Hungary, Romania, and Slovakia. The SNPs on chromosomes 12, 9p21 and 7q32, as well as those on chromosome 5, were then tested and confirmed in participants from the United States and Spain.
In all, the study included genotypic data from some 45,000 people. deCODE and its collaborators would like to thank those who took part for making the work possible. Financial support for various portions of the work was provided by the US National Institutes of Health (grants T32E007155, R01CA082354, and R01CA57494), Radboud University Nijmegen Medical Center, the Netherlands, the National Bank of Austria, the Radiumhemmet Research Funds and the Swedish Cancer Society.

deCODE-led Megastudy Finds New Genetic Clues to Causes of Schizophrenia. Findings expand knowledge of the biology of the disease and provide potential new drug targets.

The largest study of the genetics of schizophrenia ever undertaken has revealed several new common single-letter variants in the sequence of the human genome (SNPs) linked to risk of the disease. The study, by a multinational consortium of scientists led by a team from deCODE genetics, analyzed the genomes of more than 50,000 patients and control participants from fourteen countries. It is published today in the online edition of Nature.

One of the SNPs is located near the neurogranin gene (NRGN) on chromosome 11. NRGN may be a candidate drug target, as it appears to play an important role in regulating both memory and cognition, processes that are often perturbed in schizophrenics. Another SNP is in the transcription factor 4 (TCF4) gene on chromosome 18, which is involved in brain development. Five of the SNPs are located very closely together in the Major Histocompatibility Complex, a region on chromosome 6 densely packed with genes regulating immune response. This lends support to previous research suggesting a possible environmental link between schizophrenia immune response. It has long been known, for example, that a disproportionately large number of schizophrenics are born in the winter and spring, when influenza rates are usually highest. All of the variants found in this study are very common and each is associated with a modest increase in risk.

“Genetics offers a unique window for better understanding diseases like schizophrenia because the brain and cognition are so little understood and so difficult to study. Discoveries such as these are crucial for teasing out the biology of the disease and making it possible for us to begin to develop drugs targeting the underlying causes and not just the symptoms of the disease. One of the reasons this study was so successful is its unprecendented size. Pooling our resources has yielded spectacular results, which is what the participants from three continents hoped for. At the same time, this study underscores the fact that rare variants may well carry a significant part of the genetic risk of schizophrenia, so our next task is to use the ever more affordable sequencing technologies to find more of them,” said Kari Stefansson, CEO of deCODE and corresponding author on the paper.

In the first phase of the study, the deCODE-led SGENE consortium conducted a genome-wide scan of more than 300,000 SNPs in a total of 17,000 patients and controls from England, Finland, Germany, Iceland, Italy and Scotland. The 1500 SNPs with the best signal were then analysed in 11,000 patients and controls from the International Schizophrenia Consortium (ISC) and the European-American portion of the Molecular Genetics of Schizophrenia studies (MGS). Twenty-five SNPs with strong suggestive correlation were then followed up in more than 20,000 patients and controls from the Netherlands, Denmark, Germany, Hungary, Norway, Russia, Finland and Spain. Bringing together the results of different consortia established he association between the total of seven markers on chromosomes 6, 11, and 18 with increased risk of schizophrenia.

deCODE and all of the authors would like to thank the participants who took part in this study and made it possible. The SGENE consortium and its affiliated groups include deCODE genetics, the National-University Hospital in Reykjavik, the University of Aberdeen, the Ravenscraig Hospital in Greenock, the Institute of Psychiatry at King’s College London, the National Public Health Institute in Helsinki, the Ludwig Maximilians University and GlaxoSmithKline’s Genetic Research Center in Munich, the University of Copenhagen, the University of Oslo, the University of Heidelberg, the University of Bonn, the University Medical Center of Utrecht, Nijmegen Medical Center, the University of Verona, the Duke University Center for Population Genomics and Pharmacogenetics and the University of Sichuan, China. Follow up cohorts included those from Aarhus  University, the National Serum Institute, and Bispebjerg and Glostrup hospitals, Denmark; Semmelweis University, Budapest; the Mental Health Research Center of the Russian Academy of  Sciences; the Universities of Valencia and Santiago de Compostela, and the Hospital General Universitario Gregorio Marañón, Madrid, Spain; The Northern Finland Birth Cohort; Karolinska Institutet, Stockholm; Universities of Amsterdam, Utrecht and Maastricht, the Netherlands. The institutions comprising the ISC and MGS can be found in papers published concurrently with the present study in the online edition of Nature.

deCODE Discovers a Gene Linked to Risk of Kidney Stones and Osteoporosis. Findings offer promising target for drugs to better regulate calcium metabolism, are integrated into deCODEme™.

A discovery by scientists at deCODE genetics and academic colleagues from Iceland, the Netherlands and Denmark has pointed to a common biological mechanism contributing to both kidney stones and decreased bone mineral density (BMD). About 60% of the population carry two copies of a single-letter variation in the human genome (SNP) on chromosome 21, putting them at roughly 65% greater likelihood of developing kidney stones than those who carry no copies. This single variant may thus account for more than a quarter of the incidence of kidney stones, and in women carriers it is also associated with decreased BMD at the hip and spine.

The study, which involved the analysis of the genomes of some 50,000 patients and controls, is published in the online edition of Nature Genetics and will appear in upcoming print edition of the journal.

The SNP is in the gene encoding claudin 14 (CLDN14), a protein expressed in the kidney and one of a family of membrane proteins that regulate the passage of ions and small solutes between cells. As calcium is a key component both of most kidney stones and of bone, the deCODE team examined the relationship between CLDN14 and the metabolism of calcium. The results suggest that the SNP may be contributing to increased calcium excretion in urine, a major risk factor for kidney stones and also a sign of bone loss.

“This is an exciting finding because it uncovers a highly plausible common biological mechanism leading to two diseases. This offers a potentially attractive new pathway for drug discovery, and the next task is to build on our undertanding of how this SNP increases risk of these diseases and how this pathway could be targeted therapeutically to address this risk. As ever, deCODEme subscribers will see this new variant in their profiles, and we look forward building on this discovery,” said Kari Stefansson, CEO of deCODE.

About kidney stones
Kidney stones are small crystals formed of dissolved minerals, mainly calcium, that form in the kideys. 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. Larger stones can be detected with ultrasound screening and broken up to facilitate passage, though the recurrence rate is high.

deCODE would like to thank all those who participated in this study, as well as the collaborating clinicians and scientists from the Landspitali University Hospital in Reykjavik, Iceland, Radboud University Nijmegen Medical Centre in Nijmegen, Netherlands, Nordic Bioscience A/S in Herlev, Denmark and the Center for Clinical and Basic Research A/S in Ballerup, Denmark.

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.

deCODE genetics and Celera Corporation have announced the signing of agreements under which deCODE has granted Celera non-exclusive worldwide licenses to deCODE’s genetic markers for increased risk of major cardiovascular and metabolic diseases, including heart attack, stroke, atrial fibrillation (AF) and type 2 diabetes (T2D). These markers can be incorporated into laboratory tests for assessing and managing individual risk of these diseases.

“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.