Archive for the ‘Genetic Tests’ tag
deCODE discovers genetic markers that improve the power of PSA testing for detecting prostate cancer
Analysis of four SNPs, in tandem with genetic risk factors detected by the deCODE ProstateCancer™ test, yields substantial improvement in efficacy of PSA screening
Scientists from deCODE genetics and academic colleagues from Iceland, the UK, US, Netherlands, Spain and Romania today report the discovery of a set of single-letter variations in the sequence of the human genome (SNPs) that impact individual baseline levels of prostate specific antigen, or PSA. Testing for PSA levels is the most commonly used screening tool for the detection of prostate cancer. A prostate biopsy is routinely recommended for men with PSA above a certain threshold. However, PSA levels can rise for reasons unrelated to prostate cancer and baseline healthy levels vary substantially between individuals, resulting in many men without cancer being biopsied while cancer in others is not detected. The paper published today demonstrates that analysis of four SNPs can be used to derive a personalized PSA threshold that more accurately identifies those men who are more likely to have a positive biopsy and for whom one should therefore be recommended.
“This is straighforward genetics with direct clinical utility. Detected early, prostate cancer can be treated with near total success. The challenge is to more effectively risk stratify the population, identifying and biopsying those at high risk and with aggressive disease while minimizing the number of negative biopsies we perform. And using the genetics we are improving the sensitivity and specificity of PSA testing. Like virtually every protein in the body, PSA levels vary between individuals according to SNPs that regulate gene expression. The SNPs reported today enable us to personalize PSA thresholds, thereby changing the recommendation on whether to biopsy for a substantial proportion of men. Moreover, the discriminatory power of testing for these SNPs is highest when done in tandem with the SNPs associated directly with risk of the disease measured by our deCODE ProstateCancer™ test. We are working to swiftly incorporate these PSA markers into our testing portfolio,” said Kari Stefansson, CEO of deCODE and senior author on the study.
The paper, entitled “Genetic correction of PSA values using sequence variants associated with PSA levels,” is published today online in Science Translational Medicine and will appear in an upcoming print edition of the journal. The study was conducted in several stages and involved tens of thousands of men with and without prostate cancer. First, more than 300,000 SNPs were analyzed in 16,000 Icelandic men with PSA measurements but who had never been diagnosed with prostate cancer. SNPs that correlated with PSA levels were identified and then validated in a cohort from the UK. These SNPs were then studied in large case-control cohorts from Iceland, the Netherlands, Spain, Romania and the US to establish the association with PSA levels independent of risk of prostate cancer itself. The authors then demonstrated how measuring four SNPs correlated with PSA levels can be used to obtain a personalized threshold for when to biopsy, and that using such thresholds improves the ratio of positive to negative biopsies. The greatest improvement in prediction accuracy was seen when men were tested both for the PSA correction SNPs as well as a panel of prostate cancer risk SNPs detected by the deCODE ProstateCancer™ test.
deCODE and the authors wish to thank the thousands of participants who took part in this study. It was funded in part by grant 202059 (PROMARK) and grant 218071 (CancerGene), both from the 7th Framework Program of the European Union.
Find Common Ancestors by Comparing Genomes in deCODEme
We have just made some updates to the deCODEme ancestry service. Now you have more power and flexibility when you compare your genome with that of friends or individuals from different populations around the world.
Your genome can be viewed as a mosaic or tapestry made up of fragments of chromosomes from your ancestors. Fragments of chromosomes inherited from very recent ancestors, say grandparents, are expected to be large – typically tens of millions of nucleotides in size. As ancestors become more ancient, then the size of the chromosome fragments inherited from them become smaller – down to a few thousand or hundred nucleotides for ancestors born thousands of years ago.
Our new and improved genome comparison tool enables to you compare your genome with another individual in order to determine which chromosome fragments you share and to see how much of your genome is shared. The fascinating thing about this analysis is that each shared fragment represents a common ancestor. The number of shared fragments and their size reflects the number of common ancestors and how far back in time they are found. In other words, you can see how closely you are related.
Ovarian Cancer added to deCODEme Complete Scan
deCODEme DNA test now includes Ovarian Cancer
Ovarian cancer is the eighth most common cancer in women. Based on ovarian cancer statistics in the U.S., it is expected that 1.4% of women born today will be diagnosed with cancer of the ovary at some point during their lifetime. This represents the lifetime risk of ovarian cancer and means that 1 out of every 71 women will be diagnosed with this disease during their lifetime. deCODEme Complete Scan now includes risk calculation for Ovarian Cancer.
March is Multiple Sclerosis Awareness Month
deCODEme calculates your genetic risk for Multiple Sclerosis
The Multiple Sclerosis Association of America (MSAA) encourages Multiple Sclerosis (MS) Awareness during March 2009.
Multiple sclerosis (MS) is the most common neurological disorder diagnosed in young adults. It is an inflammatory disease of the central nervous system; the brain, nerves and spinal cord, that damages the protective insulation (known as “myelin”) surrounding the nerves. As a result, nerve impulses carrying messages from the brain and spinal cord are disturbed, causing a variety of symptoms such as visual disorders, weakness, dizziness, and various movement disorders, to name but a few.
The causes of MS are not fully understood. With better understanding of the disease, more effective ways will be found to treat it in the future, and hopefully prevent it from occurring in the first place. Significant steps towards better understanding of MS have however been made.
deCODE to integrate new genetic risk factor for Type 2 Diabetes into its deCODEme™ Personal Genome Scan Service
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.
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Heart attack and stroke prevention: measuring lifetime risk
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.
deCODE launches deCODE BreastCancer™, a genetic test to screen for risk of the most common forms of breast cancer
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.
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Your genome, your choice: a buyer’s checklist for genetic tests
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? Read the rest of this entry »
Not all genetic tests are created equal
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. Read the rest of this entry »
