deCODEme Complete Scan now includes Testicular Cancer

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

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

Testicular Cancer of males, and Ovarian Cancer of females.

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

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!

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

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.

By Edward Weinman

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

So what does this mean?

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

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

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

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

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

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

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

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

Science journalist Boonsri Dickinson

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

In a recent interview Dr. Kari Stefansson, C.E.O. of deCODE genetics talked about the future for genetic tests such as deCODEme and how he believes that they will drive the shift from intervention to prevention in medicine

Lauralee Nygaard, a periodontist from Spokane, WA, says the deCODE tests are easy to take and highly cost effective but that we have to pay close attention to the results and be prepared to make some serious lifestyle changes.

Lauralee Nygaard is a dentist from Spokane, Washington. She is in her early forties and has two young children. Three years ago Lauralee had a stroke while she was performing surgery on a patient. It confirmed her suspicions about a predisposition to heart disease that she had nurtured since she was 18.

“When I was 18, I went to the doctor and said, ‘I know I’m at risk for a heart attack, my dad has hypercholesterolemia.’ The doctor laughed at me. He said, ‘you’re a skinny girl, you’re never going to have heart disease.”

A stroke at forty confirmed her worst fears: “It corroborated the fact that I knew I was at risk. I had pushed my family physician for years to be aggressively preventative with making sure I didn’t have heart disease. He always told me there was nothing they could do.”

As a dentist who had stressed the importance of preventative care for years, Lauralee was ready to practice what she had preached

Finding the right program

Lauralee had heard about the Heart Attack & Stroke Prevention Clinic in Spokane, Washington from some of her patients who had been through the program there and spoken very highly of it. She was impressed from the very start:

“For me it was one of the most unique health care experiences. My first appointment was three hours long—I had never spent three hours in a physician’s office! They spent a lot of time looking at my family history, asking questions about my uncles and my aunts and other people in the family, and going over my symptoms and educating me about heart disease and we did some follow-up tests.”

After taking the deCODE test she discovered, alarmingly, that her risk for heart attack and stroke was considerably higher than the average.

The program at Heart Attack & Stroke Prevention Clinic was quite unlike anything she had experienced before: “I had seen my physician annually for my entire life. I’d always had perfect blood pressure, always had perfect blood work. So, for them to say that ‘well, you had a stroke we’re not sure why’—I just thought, what did they miss? I mean there’s got to be something else. That was just really disturbing. Was I at risk because someone missed something?”

Lauralee expressed her disappointment and frustration with what she calls the ‘five-minute, drive-by doctor’s appointment’. She explains: “even if a physician wants to give you options, he’s not allowed to if he’s on certain insurance plans,” and that most physicians are restricted under the present system.

However, she insists that paying out of her own pocket at the Heart Attack & Stroke Prevention Clinic allowed nurse practitioner Amy Doneen “to have time with patients and be more preventative in terms of her approach to disease.” Lauralee adds that the costs of preventative treatment, as opposed to those incurred after an incident such as stroke or heart attack, are minimal.

The benefits of genetic testing
“To me, the benefit of doing the genetic test is that I can reduce my risk of having another stroke and permanent damage. It’s a short life, you know . . .”

deCODE offers genetic testing for a range of inheritable diseases. This, Lauralee believes, is part of a more efficient and more cost effective method of treatment.

“The motivation for me to follow through with the genetic test was the fact that my mother’s health had been failing rapidly and she had had four strokes in the last six months. She had just been diagnosed with diabetes and was not doing well. I had never really figured out why I had a stroke. Then Amy Doneen at Heart Attack Prevention Clinic suggested that atrial fibrillation (irregular heart rhythm) might have played a role. She explained to me that 30% of cryptogenic stroke diagnosis comes from atrial fibrillation and that this condition was ‘preventable’ with the right medication.”

To her surprise, Lauralee tested negative for the diabetes gene she believed she had inherited from her mother. But the test results affirmed that her stroke has not been a random catastrophe and she did indeed have a genetic disposition for atrial fibrillation. The next step was to take blood thinners that would reduce the risk of clotting after irregular heart rhythm and subsequently reduce the risk of having a stroke.

“The genetic test gave me information (that confirmed with my past stroke) that I am at risk for future strokes. Now, instead of saying, ‘Oh well, I had a stroke. I got lucky—no big deal,’ I can actually make some choices with my health care and avoid another stroke altogether.” Lauralee’s mother had suffered a series of strokes over a short period of time and she did not want to follow along the same path.

“My kids are little—I have kids that are 8 and 10 years old and I would like to be around to see them become productive adults. I think if I could gain some information, I’d be more proactive in my health—I think there’s a lot of benefit in that.”

By the same token, she believes that her children have “so many more preventative options” and could be tested at a much younger age and therefore hopefully avoid an incident altogether. She did not want them to have to wait till 40 or 50 and/or the occurrence of a massive event. Finding out early that they could be at risk would mean earlier intervention.

Modifying behavior for optimum health
Lauralee explains a healthy future is a matter of first getting as much information as possible and then modifying one’s behavior:

“I think things are changing. We’re learning more about how being aware impacts people. I think the more you can learn about your risks, the more you can modify your behavior and the more you can hopefully prevent something that’s going to harm or shorten your life.”

Of course, knowledge can be intimidating, but only if one is not willing to make lifestyle changes. Lauralee claims that the people who are frightened of what genetic testing can offer are mainly those who don’t want to change how they’re living. She admits she had to make some serious changes in her own life, changes that she frowned on several years before her stroke.

Cost effective
Lauralee says some people are naturally concerned about costs and the fact that their insurance might not pay for genetic testing. However, if you find out you are at risk before you damage anything, you can save a great deal. She believes that preventative medicine and genetic testing are highly cost effective!

“We know that a simple swab from the inside of your mouth can gauge your disease risk—that’s a very cost effective test to figure out what your disease predispositions are. Certainly, being more aggressive in prevention is going to lower health care costs over time. For example, it would have cost a lot less for me to know that I was at risk than to have 3 MRIs—in terms of health care expense. On the national scale, heart disease, diabetes, and stroke are some of the greatest issues facing health care in this country at the moment and they’re eating up a good chunk of our health care budget.

Better decisions, better health
After describing the test as “ridiculously easy,” Lauralee admitted that some fears were “a generational issue.” Younger people are much more comfortable with technology and knowledge and do not regard knowing what their genetic makeup is as threatening. People will soon learn that knowledge is power and that it allows us to take better care of our health and make better decisions. She admits, though, that any fears she might have had are allayed by a background in biology. She certainly did not shy away from being proactive: “I mean, I think that you can never ever regret what you invest in taking care of yourself. One body, one life, one chance.”

Does that mean she was glad to have an early warning?

“Yes, totally—it was a blessing. I was very fortunate I got a warning and could shape a path for myself. Not everyone does. 70% of all first heart attacks or strokes result in death for patients.”

She ends by telling us how the pharmacist reacted to her new medication regime:
“My pharmacist, who looks sixteen, said: ‘Can I ask you a personal question? Why are you taking all this medicine?’ (blood thinners, blood pressure and cholesterol medications) I said ‘you mean the medicine of an 80-year-old?—that’s because I want to live to be 80!’”

BBC News Magazine’s Rob Liddle writes about his experience of taking the deCODEme genetic test. Does this new form of diagnosis lead to reduced autonomy or offer greater choice?

Link: See the full article on the BBC News website.

A maverick businessman and former White House confidant believes that by collecting enough data about his health, he can live to be ripe, old age.

Jack Grayson wants to live to be 113. Actually, the former head of the U.S. Price Commission under the late President Richard Nixon thinks he might be able to reach 150.

“I want to live longer so I can live forever,” says Dr. Grayson, who now runs the highly successful APQC, a private sector, non-profit organization to help American business, health and education sectors improve productivity and remain globally competitive.

How does the former FBI agent and farmer who taught at both Stanford and Harvard plan to live for a century and a half?

Link: Read the whole interview and listen to Jack Grayson talk about his deCODEme experience

After years of reading meters for the electric company, Cheryl Click won the Texas lottery, retired and purchased a cattle ranch. Now financially secure, Ms. Click is no longer rolling the dice with her health.

By Edward Weinman

Cheryl Click is rich beyond her wildest dreams. In the 1990s, she won the
Texas lottery, pocketing upwards of $27 million. After quitting her job at the electric company, this Texan with a glowing smile cashed in on her dreams and now owns various cattle ranches.

Knowing that her family had a history of heart disease, and wanting to stick around long enough to enjoy her horses and cattle, Ms. Click turned to deCODE genetics for help deciphering what role genetics play in her family’s medical history.

“All my immediate family is gone,” Ms. Click says in her thick Texas drawl. “They died from heart problems. My sister had open-heart surgery, but her heart wasn’t strong enough to support her surgery. My brother had asthma all his life, but his heart quit on him one day. And my mother died of a stroke.”

Link: Read the rest of Cheryl Click’s interview