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.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Amy Doneen, Director of the Heart Attack & Stroke Prevention Center, Spokane, WA.

Amy Doneen at the Heart Attack and Stroke Prevention Clinic in Spokane, Washington, talks about an “exciting new time” for preventive health care. Amy, a nurse practitioner, has been using nutrigenomics (the response of genes to nutrition) as part of the program for more than a decade and with outstanding results. “The goal,” says Amy “is to find out what path a patient is on to developing certain diseases and kick them off that path.” Scanning for risk factor for common conditions (such as diabetes, heart attack, several types of cancer etc.) She emphasizes the importance of gauging lifetime risk as against clinical tests that usually concentrate on immediate high risk. According to Amy, some people walk away from the second kind with a negative result and think things are always going to be fine. Genetic testing is just arriving to the market place, but Americans currently spending nearly $50 billion on stroke care alone, the time is ripe to back all advances in preventive medicine.

To read more and watch parts of the interview with Amy Doneen visit the deCODEme Customer Stories.

Breast Cancer Network of Strength was started by Mimi Kaplan and Ann Marcou.

Attitudes towards breast cancer have changed quite a lot over the past three decades, a fact evidenced by the outpouring of response when stars such as Olivia Newton-John, Kylie Minogue, and, most recently, Christina Applegate, went public with their personal struggles with the disease. But this change in attitude is also reflected in many other ways and not least in the adoption of a new name for the patient advocacy and support organization that until now called itself Y-ME? Tomorrow, a gala event held at the Fairmont Hotel in Chicago will celebrate Breast Cancer Awareness Month and the evolution of Y-ME, 30 years on, into the Breast Cancer Network of Strength-a change they hope that will better communicate the organization’s mission to promote a proactive, engaged and positive approach to fighting breast cancer.

Started in 1978 by librarian Mimi Kaplan and social worker Ann Marcou (both breast cancer patients hailing from Chicago), the newly named Breast Cancer Network of Strength includes a 24-hour hotline with interpreters in 150 languages, as well as an internet-based support system where breast cancer patients can share their stories. Breast Cancer Awareness Month (BCAM) has a slightly shorter history but the pink ribbons you have seen everywhere for the past two weeks (one of which you are hopefully wearing right now) are now a familiar sight worldwide.

Alongside a number of other organizations, deCODE genetics is working on the preventative side of matters via ongoing research into the genetic risk factors for breast cancer. Last week deCODE genetics launched deCODE BreastCancer^TM, a new tool for assessing risk of the common forms of breast cancer (that are also the result of environmental and lifestyle factors) and for targeting intensive screening and early detection for women at high risk of the disease. deCODE BreastCancer^TM aims to put the power of genetic risk assessment to work for the majority of women, complementing the use of tests for variants in the BRCA1&2 that cause rarer, highly familial forms of the disease.

MainStreet.com - How to Fight Breast Cancer Without Giving Money

Breast Cancer Network of Strength

deCODEme genetic test includes an identification of the male pattern baldness trait.

A team of scientists, led by Professor Tim Spector of King’s College, London, have been taking a closer look at the genetic coordinates for male pattern baldness or androgenic alopecia. Male pattern baldness is the most common form of hair loss in men and one that increases steadily with age. While it has been known for some time that men inherit a tendency for baldness via their x chromosomes from their maternal grandfather, this new research has identified a region on chromosome 20 (20p11) that suggests that a susceptibility for baldness is also inherited directly from one’s father. There is no preventative treatment as such–at least none that is guaranteed to work–but if you are among the 14% who are in the greatest risk group there’s more hope now the genetic causes of baldness are being identified. Frank Geller from deCODE genetics is among the geneticists who took part in the research. The genetic scan deCODEme already includes an identification of the male pattern baldness trait.

• Link: “Male-pattern baldness susceptibility locus at 20p11″ in Nature Genetics
• Link: “Genetic test can forecast bald facts about each man’s future” in The Times
• Link: “Hair loss now predictable with gene scan” in The National Business Review
• Link: “One-two gene punch raises odds of baldness in men” at CNN.com

On October 8th MSNBC published an article by Arthur Caplan, Ph.D. on genetic tests for breast cancer.
The following is a response by Jeff Gulcher, M.D., Ph.D, Chief Scientific Officer at deCODE Genetics.

Arthur Caplan stresses caution in the application of the new genetic risk tests for common diseases and I certainly agree that genetic testing should be applied with care. However, he goes too far when he says that the new deCODE BreastCancer genetic risk test is only useful for women who have two or more close relatives with breast cancer, is not based on large enough studies to be accurate, and is not regulated.

There are two major types of breast cancer: the rare, early onset form that occurs in certain families and for the detection (for which the Myriad Genetic test is well suited), and the common form which accounts for 95 percent of breast cancer. The vast majority of women who develop breast cancer do not have the conventional risk factors of family history, pregnancy history or breast density. Unfortunately, many of these women were likely considered to be of average risk before their cancer was found. Therefore, they were not even offered screening with breast MRI which detects two to three times more cancer at an earlier stage than mammography alone, or preventive measures such as tamoxifen treatment which can cut down cancer rates by 40 to 50%.
To date, the healthcare system has not been as good as it would like to be at predicting which women are at higher risk of the common forms of breast cancer: But we at deCODE and others have invested years of research and tens of millions of dollars to find other factors that can complement the conventional factors. Our efforts have paid off, because there are 7 genetic markers, easily and accurately measured from a cheek swab, that define most of the genetic risk for the common forms of breast cancer. The test defines risk from 0.4-fold to 4-fold compared to the general population risk (the average woman of European ancestry in the US has a lifetime risk of 12%). Based on this test alone, 10 percent of women have risks ranging from 1.4- to 4-fold, and would account for about 17 percent of breast cancer cases. Five percent of women are at more than 2-fold average risk, and the 1 percent are at 3-fold risk, so the risk is substantial for a significant portion of the population.

This risk is independent of family history and other conventional risk factors and therefore may identify some women as having higher risk even if breast cancer does not appear to be in their families. So Arthur Caplan is fundamentally incorrect in stating that only women with a family history of breast cancer would benefit from genetic testing. That may be true for traditional genetic diseases like Huntington’s disease and the rare highly familial form of early breast cancer addressed by the Myriad test, but the new tests for common diseases define risk beyond family history.

Each of the genetic markers in this risk test have been replicated in between 5 and 30 different populations in studies by deCODE genetics, the National Cancer Institute, and UK Cancer Research. These studies have been published in the most prestigious, peer-reviewed journals, including Nature Genetics and the New England Journal of Medicine. Altogether almost 100,000 patients and controls have been studied to define the marker risks. We made this test available for physicians to order for their patients through our reference laboratory which is regulated under CLIA by the US Federal government.

However, it is important to emphasize that the test does not diagnose breast cancer: it is simply a means of assessing personal risk of the disease, much more analogous to an LDL-cholesterol test for assessing heart disease risk than traditional genetic tests for purely genetic rare disorders like that for Huntington’s disease. That is, women at higher risk based on deCODE Breast Cancer are not destined to develop breast cancer. They may have a 20 to 36 percent lifetime risk for developing cancer (versus baseline risk of 12%). Women at lower risk are not immune from breast cancer and therefore would still be regularly screened with mammography. Women at higher risk above a certain threshold may benefit from more intensive screening using breast MRI on top of mammography, as recommended by the American Cancer Society. Also, certain medications such as tamoxifen which blocks the estrogen stimulation of breast cancer cells are approved by FDA to reduce breast cancer risk for women at higher risk.

In summary, this test may reclassify as higher risk some women who were previously considered to be of average risk, contributing to earlier detection and more focused prevention strategies. In fact, this test together with family history could define as higher risk the roughly 20% of women who may account for 35 to 40% of future breast cancers.

Looking at the big picture, about 5 percent of the health care budget is used for diagnostics and most of the rest is for therapeutics. Much money has been invested in the development and use of new expensive therapies for women with advanced cancer. But individual women and our healthcare system may both benefit from the increased use of risk diagnostics to help to focus on women at higher risk and thus diagnose cancers earlier rather than later, saving lives, suffering, and money.

Anyone who wants to hear some real stories from real people about how genetic tests like this may improve healthcare can find them on this blog.

Jeff Gulcher MD PhD
Chief Scientific Officer
deCODE Genetics

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Jack Doughery says deCODEme genetic test was an investment

Jack Doughery feels great and wants everyone to know it.

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

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

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

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

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

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

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

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

deCODEme genetic test customer Jack Doughery

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

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

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

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

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

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

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

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

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

“Dr. Bale totally turned my life around.”

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

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

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

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

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

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

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

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

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

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

Scientists at deCODE genetics Genetic Service Facility lab in Iceland

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

Knowing what you want

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

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

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

Buyer’s checklist

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

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

The gold standard

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

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

Your genome, your choice

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

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

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

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

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

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

Official deCODE Genetics Press Release:

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Edward Farmer
Chief Communications Officer
deCODE genetics

By Edward Weinman

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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