deCODEme Complete Scan now includes Testicular Cancer

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

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

Testicular Cancer of males, and Ovarian Cancer of females.

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

deCODEme Prostate Cancer

Last night we announced our discovery of four more SNPs linked to increased risk of prostate cancer. At the same time, academic collagues in the US and UK have also found more SNPs. (See article in TIMES ONLINE) All of the well-validated new risk variants will be incorporated into your deCODEme profile in the days ahead.

In the same study we published yesterday, we also conducted an analysis of all well-validated genetic risk factors discovered to date to establish what percentage of men would be at a significantly higher risk than average using these markers. Based upon our ability to swiftly conduct a population-based analysis in Iceland, this analysis demonstrates that about 4% of men are at more than double average risk based upon these risk factors, while just over 1% are at more than 2.5-times average risk.
Average lifetime risk of prostate cancer in Iceland is very similar to that of other populations of European descent, at about 12%. In light of the above calculations, that means that about 4% of men are at more that 20% lifetime risk based upon currently known risk SNPs, while slightly more than 1% of men are at more than 30% lifetime risk. Other standard measures of risk, such as age, family history, and PSA score, are all independent of the risk measured by common genetic risk factors, and so complement this risk calculation.

All of this is important to bear in mind as you check your own risk profile and consider what this information might mean to your health. Those of us who are deCODEme subscribers may well have wondered what it means when new risk factors are found, incorporated into our risk calculations, and your risk score changes. The answer is that for the vast majority of us, our increased risk of these common diseases is either slightly above or slightly below average. The numbers may change slightly, but this may not have any immediate bearing on how you should try to protect your health. At the same time, because these diseases are common, average risk is rarely insignificant, so we are none of us off the hook.

Yet it is for those in the highest risk categories that your profile may provide information that you can take to your doctor, and with him or her consider other risk factors you may have and evaluate how best to lower that risk or undergo appropriate screening.

As ever, we are eager to hear how you use your profile and how it may be helping you to take more control over your health. For our part, we will continue to integrate the best in genetics into your profile.

With best regards,
Edward Farmer
The deCODEme Team

Charles Wallace and his wife believe that a deCODEme Complete Scan helped save Chuck's life when it lead to discovering Prostate Cancer. Click on the picture to see Chuck's story.

Dr. Bradley Bale at the the Heart Attack & Stroke Prevention Center is a big believer in deCODE’s tests for genetic risk factors for cardiovascular disease. As he has for many of his patients, Dr. Bale recommended that Charles Wallace, a 55 year-old Texan, have a full deCODEme scan to understand his risk of a range of conditions, including cardiovascular diseases. The breadth of the risk factors analyzed by deCODEme proved to be very important indeed. Mr. Wallace learned that he was at nearly double the average risk of prostate cancer, a piece of information he and Bale followed up on and that Wallace credits with helping to save his life.

Chief scientific officer of deCODE, Jeff Gulcher (48) takes a deCODEme scan that indicates he has a very high risk bracket for prostate cancer. Taking his results to a urologist may have saved his life.

Rick Weiss of the Washington Post reports:

Jeffrey Gulcher had no reason to think much about prostate cancer. He was just 48, and the disease typically strikes later in life. Even the most cautious medical groups agree that most men need not begin annual prostate screenings until age 50.

But Gulcher happens to be the chief scientific officer of deCODE Genetics — one of several companies that, amid some controversy, have begun offering direct-to-consumer DNA tests that can help people predict which diseases they are likely to get. So in April, he spat into a test tube and, without giving the matter much thought, sent the sample in for analysis by his own company.

He was in for a shock.

The test indicated that he carries a genetic variant that nearly doubles his lifetime risk of getting prostate cancer: While the average man has a 15 percent chance of being stricken, Gulcher had a 30 percent shot. That spurred his physician to order a standard blood test for prostate cancer. The result was toward the high end of the range considered normal, which, together with the DNA test, worried the doctor. He referred Gulcher to a urologist, who performed an exploratory biopsy — and found that Gulcher’s prostate gland was riddled with cancer, and a fairly aggressive version of it at that.

Gulcher is going in for surgery tomorrow, and not a moment too soon. Tests suggest that the disease has not yet spread to other parts of his body, a milestone that often portends death and that may well have been passed had he waited until he turned 50 to get a standard prostate-specific antigen (PSA) test.

Did genetic testing save Gulcher’s life? I think it may have. His dramatic story seems to illustrate perfectly the claims, made by his company and others, that an open market of DNA tests is the 21st century’s ticket to a healthier nation.

Link: Read the full article in the Washington Post.

These latest SNPs are the fourth set of variants that deCODE has linked to prostate cancer risk. They are single-letter variations in the genome – SNPs – located on chromosome 2 and on the X chromosome. The SNPs confer relatively modest increases in risk – of approximately 20% and 15% per copy carried, respectively – but because they are also quite common they are each believed to contribute to about 5% of prostate cancer cases. They were found through the analysis of 300,000 SNPs in 23,000 Icelanders in deCODE’s prostate cancer studies, and then confirmed in an analysis of more than 15,500 individuals from seven different cohorts from Europe and the United States.

Published studies by major academic research groups in the United States and Europe have over the past month provided strong validation of the role of the other common risk variants, on chromosomes 8 and 17, discovered by deCODE in 2006 and 2007. Altogether, the prostate cancer risk variants now included in deCODEme™ contribute to more than 50% of all cases of the disease. Because of these variants, 10% of men are at twice the risk and 1% of men are at three times the risk of the disease in the general population.

For those subscribers who believe they should consider having a DNA-based diagnostic test for prostate cancer risk variants that they can use with their doctor, deCODE has also just launched deCODEPrCa™, the first such test aimed at understanding individual risk of the disease.