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

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

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

As a deCODEyou reader, you have an active interest in how genetics can help to improve personal health and healthcare. If you are a deCODEme subscriber or have taken one of our DNA-based diagnostic tests, you have already followed up on that interest.

Then again, you may not have had your genome analyzed yet. You may simply be interested in taking part in research, having a scan, or simply in keeping up with the latest discoveries.

But whoever you are, your genome is information about you. And at deCODE, we believe that your genome belongs to you. Over the past decade we have worked with hundreds of thousands individuals who have decided to use their genome to advance our gene discovery work, to understand their risk of a certain disease, or who want to have a broad and constantly updated look at their genome through deCODEme. In every case, we think it is the individual who has the right to decide to use their genome and learn about it as they wish.

Our job is to find the variations in the sequence of the genome that have an impact on risk of disease, and to report to those who use our tests and scans what those findings mean to them. We have done a lot of this – more than anyone else. And because we take your genome as seriously as you do, our tests and scans only detect genetic risk factors that have been validated in multiple populations and to very strict criteria. Many of the risk factors we have found and test for in diseases like heart attack, type 2 diabetes and breast cancer account for a large proportion of the occurrence of these diseases. Some have as big an impact on risk as do some of the major lifestyle and environmental risk factors that are already a standard part of risk screening.

So when we hear august voices argue that you shouldn’t have the right to look at your genome if you want to, or that we shouldn’t test for genetic risk factors until we know everything there is to know about the human genome, we feel obliged to disagree. In this week’s New England Journal of Medicine, we have heard again that it is “too early” to measure genetic risk factors for common diseases. Why? In essence because in the coming years we are likely to discover many more genetic risk factors that will help to round out our understanding of all of the risk factors that exist. To be sure, we will discover more risk variants in a great many diseases. Many will be common but with little effect on risk. Others will be rare but will confer a high likelihood of disease and thus likely be useful components in genetic tests.

But since we already know risk factors that can nearly double the risk of heart attack, diabetes or breast cancer, in a substantial portion of the population, we take the much clearer view that there is an ethical responsibility to make tests for these risk factors available as widely as possible. As our CEO, Kari Stefansson, was cited as noting in the New York Times yesterday, our tests can identify people who are at several times average risk of major diseases, and there is nothing trivial about that sort of increased risk.

After all, we believe that testing for cholesterol is a good thing, even though our understanding of just how LDL impacts risk of heart disease in incomplete. Similarly, we are only now learning how to optimize the use of statins (and that our heart attack risk factor on chromosome 9p21 has been shown to be helpful for finding the best dose for individuals). How many lives would have been lost if we had taken statins off the market until that elusive day when we thought we understood everything about them?

In our view the challenge is rather to try to bring genetic risk factors into clinical practice as swiftly as possible. As an article this week in The Times points out, a deCODEme scan has a lot of actionable risk information in it. But one of the things we need to do is educate doctors about how to use such results  and how to integrate genetic risk into everyday screening. Our own experience with doctors is that most are very eager to learn. Moreover, genetic information complements what they already do and helps them to deliver better and more personalized medicine to their patients.

In the past few years we have made rapid strides in identifying the key genetic risk factors for some of the most common diseases in our society. Very large independent studies have established that detecting these risk factors can help individuals to act to protect their health and to get the treatments that are best suited to them. This is precisely the sort of information that is going to make it possible to transform our healthcare system into one that is both more effective and efficient – focused on preventing disease and treating it early, rather than spending vast sums of money once people are already seriously ill.

You and your genome are already at the heart of this transformation. If someone tells you that you need to wait, or that they will decide whether and what you can learn about yourself, you need to set them straight. We’ll be there with you.

Dr Edward M Farmer
Chief Communications Officer
deCODE genetics Inc.

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.

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.

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!’”