deCODE’s discovery capabilities combine its extensive population and genetic resources, including DNA samples and medical data, complete genealogical information, next generation sequencing technology, and deCODE’s proprietary bioinformatics and statistical capabilities. Over the next 18 months, deCODE and Pfizer will work together to analyse the genomes of patients to search for sequence variants that would be useful for understanding drug targets and discovering novel drug targets, that may ultimately lead to tools for patient stratification and companion diagnostics.

“This agreement is a part of deCODE’s ongoing strategy to unleash the value of human genetics,” said Dr. Kari Stefansson, founder and CEO of deCODE, “our research platform allows us to understand the genetic basis of disease and modifiers of clinical phenotypes in actual patient populations; by doing so, we can rapidly move from targets to patient stratification and from there to companion diagnostics.”

The research collaboration will utilize the expertise and capabilities of both deCODE and Pfizer: deCODE’s comprehensive population genetics resources and analytical expertise and Pfizer’s dedication to the application of genomic analysis to the discovery and development of drugs.

Scientists at deCODE Genetics and academic collaborators from Iceland, The Netherlands, Spain, Denmark, Germany, Sweden, the USA, the UK and Romania today report the discovery of a variant in the sequence of the human genome associated with risk of developing basal cell carcinoma of the skin (BCC), as well as prostate cancer and glioma, the most serious form of brain cancer.  The study was done in collaboration with Illumina, Inc., and is published today in the online edition of Nature Genetics.

Using Illumina sequencing technology, deCODE scientists determined the sequences of the entire genomes of 457 Icelanders, and identified 16 million single nucleotide polymorphisms (SNPs). Through a combination of SNP genotyping and computational techniques utilizing the extensive Icelandic genealogy, they were able to propagate those 16 million variants into over 40,000 Icelanders for use in this study.

The researchers discovered a single letter variant located in TP53, a gene known to play a central role in tumor biology and for accumulating so called somatic mutations, during the development of cancer in patients.  Until now, however, individuals who are born with defective copies of the gene (germline variants) have been found extremely rarely, only in families with cancer predisposition syndromes, Li Fraumeni syndrome (LFS) and Li-Fraumeni-like syndrome (LFL). The variant found in the present study is an unusual type of mutation that appears to affect the way the gene’s messenger RNA is processed; the messenger RNA in patients with the mutant TP53 gene appears to lack proper termination and polyadenylation.

This is the first evidence of a germline variant in TP53 associated with cancer predisposition beyond LFS and LFL. While the mutations causing LFS and LFL syndromes are very rare (occuring 1:5,000 to 1:20,000 births), the variant described in this paper occurs in ~ 1 in 25 individuals in Iceland, and at comparable frequencies in US and UK populations.

“This mutation is one of a growing number of deCODE discoveries of relatively low frequency sequence variants with large effect,” said Kari Stefansson, deCODE’s CEO and senior author of the study.  “The discovery of such variants is made possible through the breadth and quality of the data that the Icelandic population provides.”

Dr. Stefansson emphasized, “We will, together with our collaborators, including Illumina, extend ourselves to turn this discovery into benefit for patients and those at risk of cancer.”

BCC is the most common cancer in people of European ancestry. Sun exposure is the primary risk factor for BCC, but genetic predisposition also plays a substantial role.   Until now, no mechanistic causal connection between cancers as diverse as BCC, prostate cancer, glioma, and colorectal adenoma was known.

The paper, “A Germline Variant in the TP53 Polyadenylation Signal Confers Cancer Susceptibility” is published online in Nature Genetics at www.nature.com/ng and will appear in an upcoming print edition of the journal.

Scientists at deCODE genetics and academic colleagues from Iceland, The Netherlands, Denmark, USA and Illumina, Inc., today report the discovery of single-letter variants (SNPs) in the sequence of the human genome associated with high risk of sick sinus syndrome. The study is published today in the online edition of Nature Genetics.

The study reports a genetic variant in the gene MYH6 that is associated with high risk of sick sinus syndrome in Icelanders. The lifetime risk of being diagnosed with Sick sinus syndrome is about 6% for individuals without this genetic variant but is increased by 12.5 times, to approximately 50%, for those that carry the variant. Sick sinus syndrome is a heart rhythm disorder that is characterized by an inappropriately slow heart rate. It is commonly seen in the elderly and many with Sick sinus syndrome eventually need a permanent pacemaker.

With the aim of searching for sequence variants that predispose to Sick sinus syndrome, a genome-wide association study was performed including 792 Icelanders with Sick sinus syndrome and 37,592 Icelandic controls. The study utilized SNP data from several sources including Illumina SNP chip genotyping as well as whole-genome sequencing of 7 Icelanders with Sick sinus syndrome and 80 Icelanders not diagnosed with Sick sinus syndrome. The whole-genome sequencing data yielded a strong association between Sick sinus syndrome and a rare missense mutation in MYH6 that could not be accounted for by any other sequence variation. MYH6 encodes one form of myosin, a major component of the contractile system of the heart, and was recently associated with the function of the conduction system of the heart by studies from deCODE and others. This is the first time that MYH6 is implicated in the development of heart rhythm disorders.

“This work constitutes our first entry into the study of rare variants in common diseases that confer large risk of disease. It is clear that the risk of common diseases in our society is accounted for by both common and rare variants in the sequence of the genome. We here at deCODE and scientists all over the world have over the past few years discovered large numbers of common variants that confer risk of common diseases. Now we are entering into the era of rare variants that are providing us with clear insights into the pathogenesis of diseases and possibilities of putting together very effective diagnostics” said Kari Stefansson, deCODE’s CEO and senior author of the study.

The paper, “A rare variant in MYH6 is associated with high risk of sick sinus syndrome” is published online in Nature Genetics at www.nature.com/ng and will appear in an upcoming print edition of the journal.

Sick sinus syndrome, or sinus node dysfunction, is a common clinical disorder that is characterized by pathological slow heart rate, sinus arrest and/or attenuated heart rate response to exercise. The syndrome comprises a wide range of electrophysiological abnormalities, including failure of the sinus node and atrial impulse formation or propagation, as well as susceptibility to atrial tachyarrhythmias, particularly atrial fibrillation. Although encountered at any age, Sick sinus syndrome is primarily a disease of the elderly and is often secondary to other cardiac disorders when diagnosed in younger individuals. Symptoms are often intermittent and/or nonspecific and include dizziness, syncope and heart failure. The only effective treatment for symptomatic and irreversible sinus node dysfunction is permanent cardiac pacing, and Sick sinus syndrome remains the most common indication for permanent pacemaker implantation.

Analysis of four SNPs, in tandem with genetic risk factors detected by the deCODE ProstateCancer™ test, yields substantial improvement in efficacy of PSA screening

Scientists from deCODE genetics and academic colleagues from Iceland, the UK, US, Netherlands, Spain and Romania today report the discovery of a set of single-letter variations in the sequence of the human genome (SNPs) that impact individual baseline levels of prostate specific antigen, or PSA. Testing for PSA levels is the most commonly used screening tool for the detection of prostate cancer. A prostate biopsy is routinely recommended for men with PSA above a certain threshold. However, PSA levels can rise for reasons unrelated to prostate cancer and baseline healthy levels vary substantially between individuals, resulting in many men without cancer being biopsied while cancer in others is not detected. The paper published today demonstrates that analysis of four SNPs can be used to derive a personalized PSA threshold that more accurately identifies those men who are more likely to have a positive biopsy and for whom one should therefore be recommended.

“This is straighforward genetics with direct clinical utility. Detected early, prostate cancer can be treated with near total success. The challenge is to more effectively risk stratify the population, identifying and biopsying those at high risk and with aggressive disease while minimizing the number of negative biopsies we perform. And using the genetics we are improving the sensitivity and specificity of PSA testing. Like virtually every protein in the body, PSA levels vary between individuals according to SNPs that regulate gene expression. The SNPs reported today enable us to personalize PSA thresholds, thereby changing the recommendation on whether to biopsy for a substantial proportion of men. Moreover, the discriminatory power of testing for these SNPs is highest when done in tandem with the SNPs associated directly with risk of the disease measured by our deCODE ProstateCancer™ test. We are working to swiftly incorporate these PSA markers into our testing portfolio,” said Kari Stefansson, CEO of deCODE and senior author on the study.

The paper, entitled “Genetic correction of PSA values using sequence variants associated with PSA levels,” is published today online in Science Translational Medicine and will appear in an upcoming print edition of the journal. The study was conducted in several stages and involved tens of thousands of men with and without prostate cancer. First, more than 300,000 SNPs were analyzed in 16,000 Icelandic men with PSA measurements but who had never been diagnosed with prostate cancer. SNPs that correlated with PSA levels were identified and then validated in a cohort from the UK. These SNPs were then studied in large case-control cohorts from Iceland, the Netherlands, Spain, Romania and the US to establish the association with PSA levels independent of risk of prostate cancer itself. The authors then demonstrated how measuring four SNPs correlated with PSA levels can be used to obtain a personalized threshold for when to biopsy, and that using such thresholds improves the ratio of positive to negative biopsies. The greatest improvement in prediction accuracy was seen when men were tested both for the PSA correction SNPs as well as a panel of prostate cancer risk SNPs detected by the deCODE ProstateCancer™ test.

deCODE and the authors wish to thank the thousands of participants who took part in this study. It was funded in part by grant 202059 (PROMARK) and grant 218071 (CancerGene), both from the 7^th Framework Program of the European Union.

Cigarette smoking is a major cause of illness and death worldwide. But it is a complex behavior, and how much people smoke, how hard they find it to quit, and the impact of long-term smoking on health varies greatly among individuals. A substantial portion of this variability is genetic. Two years ago, deCODE discovered the first common, single-letter variation (SNP) in the sequence of the human genome, on chromosome 15q25, associated with nicotine addiction and risk of lung cancer.

Today, deCODE scientists and academic colleagues from 23 institutions in a dozen countries build on this work with the discovery of common SNPs on chromosomes 8p11 and 19q13 that among smokers increase the number of cigarettes smoked per day (CPD), a measure of nicotine addiction, and increase risk of lung cancer.

The study, published today in the online edition of Nature Genetics, analyzes detailed genotypic and smoking data from more than 130,000 participants. Both of the new SNPs are common, and in smokers each copy carried associates with a small increase in smoking quantity – about half a cigarrette per day – but an approximately 10% increase in risk of lung cancer compared to non carriers. This is about one third of the increase in lung cancer risk conferred by the SNP on chromosome 15q25. But taken together these variants can identify a sizeable proportion of smokers whose health is at even greater risk than average from their habit, information which may serve as an additional spur to smoking cessation. The study, ‘Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior,’ can be found at www.nature.com/ng.

“Smoking is bad for anyone’s health. It is even worse for some, and today’s discoveries continue to strengthen our ability to identify who those people are and give them a compelling additional reason to quit. We plan to incorporate these SNPs into our testing products to do that. What we do not yet know is exactly how this additional risk is conferred. To some degree these variants suggest that those for whom nicotine is more addictive are driven to smoke more, increasing their exposure to environmental risk. But given the quite substantial corresponding increases in risk of lung cancer it may also be that they make people more susceptible to the noxious effects of tobacco smoke. What is clear is that these variants — which are all near genes that encode nicotine metabolizing enzymes and receptors — are giving us a solid starting point for finding answers to advance personal and public health,” said Kari Stefansson, executive chairman and president of research at deCODE and senior author on the paper.

deCODE wishes to thank all those who participated in and contributed to this study. It was supported in part by the National Institutes of Health (R01-DA017932), and the European Comission’s GENADDICT project (LSHM-CT-2004-005166) and ENGAGE smoking consortium (HEALTH-F4-2007-201413).

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

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

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

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

Dr. Kari Stefansson

deCODE scientists have discovered a single SNP that confers increased risk if inherited from the father, but is protective if inherited from the mother

Scientists at deCODE genetics, Inc. publish in the journal Nature the discovery of a version of a common single-letter variant in the sequence of the human genome (SNP) with a major impact on susceptibility to type 2 diabetes (T2D). The impact of the T2D variant is not only large, but unusual: if an individual inherits it from their father, the variant increases risk of T2D by more than 30% compared to those who inherit the non T2D-linked version; if inherited maternally, the variant  lowers risk by more than 10% compared to the non T2D-linked version. Nearly one quarter of those studied have the highest risk combination of the versions of this SNP, putting them at a roughly 50% greater lifetime risk of T2D than the quarter with the protective combination. This is the second largest effect of any genetic variant for T2D apart from SNPs in TCF7L2, discovered by deCODE in 2006.

“We could make this discovery beacause we are in the unique position of being able to distinguish what is inherited from the mother from what is inherited from the father. This we can do because of the large amount of data we have assembled on the Icelandic population. These data empower us in many ways. For example, using our ability to impute sequence data, we can multiply by 100 times the amount of information generated by sequencing one individual. We can use these tools to discover and integrate rarer variants into our tests and scans, identify drug targets for licensing, and put our know-how at the disposal of our service customers. We believe that this is an important advantage for conducting large-scale whole sequence studies over the next couple of years,” said Kari Stefansson, CEO of deCODE.

Because the risk is inherited and varies in this way, the SNP, located on chromsome 11, had never been linked to T2D even though it had been genotyped in large, traditional genome-wide association studies (GWAS). These do not distinguish between paternally and maternally inherited SNPs. But deCODE can track the parental origin of virtually any SNP in the genome of the tens of thousands of Icelandic participants in the company’s gene discovery work. In this study, deCODE used its population-wide genealogy database and proprietary statistical tools to determine the parent of origin of a number of SNPs in some 40,000 Icelandic participants in the company’s gene discovery programs. Some of these SNPs had previously been associated with different diseases and are located near “imprinted” genes – genes in which only the maternally or paternally inherited copy is “switched-on” to encode a protein. Five of these, one each in breast and skin cancer and three in T2D, showed that the parental origin of the variants affects the risk they confer.

The paper, “Parental origin of sequence variants associated with complex diseases,” is published online at www.nature.com, and will appear in the December 17 print edition.

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

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 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.

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.

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.

Scientists from deCODE genetics have identified a clear link between one genetic variant and susceptibility to nicotine dependence and will publish their results in the April 3 issue of Nature. Moreover, in part because of its impact on smoking behavior, each copy of the risk variant of this SNP confers an approximately 30% increase in risk of lung cancer and a 20% increase in risk of peripheral arterial disease (PAD), a common and debilitating constriction of the arteries to the legs.

deCODE scientists came upon the genetic variant by closely examining the genetic makeup of more than 10,000 smokers. They then followed up with an analysis of 32,000 patients and controls from Iceland, New Zealand, Austria, Sweden, Italy, the Netherlands and Spain for lung cancer and PAD, two common diseases strongly associated with smoking.

Kari Stefansson, deCODE CEO, expressed the importance of the discovery: “These findings provide an example of the power of human genetics for shedding light on the most complex health challenges. Not only have we made a convincing link between a single genetic variant and a behavioral disorder – greater smoking quantity and addiction to nicotine – but also demonstrated how this risk factor translates into risk of lung cancer and PAD.”

Stefansson also pointed out that deCODE’s genetic profile service, deCODEme, will test for the gene immediately.

Details of the smoking gene study, which was funded in part by the European Commission, and from the National Institute of Drug Abuse of the U.S. National Institutes of Health, are available at www.nature.com.