DNAction

In the past few years, the science of genetic testing has advanced exponentially, both in the amount of information genetic testing can reveal and the precision and reliability of the results. It’s also more convenient and affordable than ever before—making it possible for companies like Pathway Genomics to provide consumers with valuable insight into their predisposition to certain health conditions, their individual response to medications, information about their family ancestry, and much more.

However, receiving a detailed report on your genetic make-up and understanding how to best use the information included in your report are two different things—and this is another area in which Pathway Genomics stands out in the industry. Pathway Genomics’ genetic health report is more than just informative. It is designed to provide consumers with information they can use to take proactive control of their health and well-being.

In Pathway Genomics’ genetic health report results are easy-to-read and action-orientated. For example, some results may be labeled “Immediate Attention” with specific recommendations spelled out. Others may advise to “Be Proactive” and consult with a physician. Those labeled “Learn More” advise on prevention. In areas where a genetic report reveals no significant health issue, Pathway Genomics encourages people to move forward confidently and do what they can to “Live a Healthy Lifestyle.” It’s important to note that genetic testing tells us with great accuracy if an individual has a particular genetic marker, or SNP. It does not predict with absolute certainty whether that person will or will not develop that disease. This is where the role of genetic counseling comes into play, and it is a critical factor in people being able to use results from their genetic health report to develop well-informed plans of action to adjust their lifestyle or make other decisions concerning the quality of their life and their health. At Pathway Genomics, we offer to every customer the opportunity to speak with a genetic counselor in order to fully understand their genetic health report, and from there, make positive and well-informed decisions.

What you can learn
Although we can’t change our genes, there are things we can do to maintain our health or mitigate our risks. For example, if genetic testing revealed that you might be predisposed to diabetes, your Pathway Genomics’ genetic health report would give you detailed information on the disease, its various types, its causes, treatments, and the prevalence of the disease among the general population. The report would also indicate whether you should consult with your doctor immediately and/or make lifestyle adjustments like eating differently, exercising more, or making changes to your environment. This depth of information is repeated for every condition included in your report—providing a comprehensive and actionable guidebook on how to take charge of your well-being.

Your genetic health report from Pathway Genomics can be exciting and enlightening. For many people, however, the wealth of information provided in a genetic report can also be a bit overwhelming. For that reason, Pathway Genomics has a team of certified genetic counselors on staff that are available, toll-free, for one-on-one phone calls to help customers interpret and understand their genetic reports.

For more information on “What is genetic testing?” and “Why Test?” look for DNA Conversation Starters #1 and #2, respectively on our blog, DNAction: Your Pathway to Human Genomics. Here you have access to all of Pathway’s DNA Conversation Starters.

mbornstein News & Features genetic counseling, genetic testing

Welcome to DNA Conversation Starters! Since launching our company early last year we’ve realized how important it is to provide the public with educational information about genetics and personal genetic testing. For most of us, we learned about DNA for the first time in middle school. But, when was the last time you revisited your biology textbook? Recent discoveries show that genetic information can actually be used for so much more than just determining our eye color.

More and more we see well-known TV shows like Law and Order or CSI using DNA to obtain forensic evidence for police investigations and legal trials. Did you know that canine (dog) DNA is even being used to identify pet owners for not picking up their dog’s droppings on the street? Now, with access to advanced genetic testing technologies, companies like Pathway Genomics can generate genetic test results from a small saliva sample and tell a fascinating story about who you are at your biological core. This information can give you greater insight into your past and present, and empower you to make more-informed choices for your future.

We understand that making the decision to order a personal genetic test brings up a lot of questions. Here, in our ‘DNA Conversation Starters’, we will discuss these questions. We will offer our thoughts and insights on the benefits associated with personal genetic testing and rule out various myths associated with genetic testing. For instance, a genetic health test may tell you that you carry a certain genetic marker linked to heart disease, however being at risk does not mean that you will develop this condition.

Join us as we talk through a variety of topics linked to genetics including women’s health, cancer, heart disease, asthma, men’s health, nutrition, and ancestry. We’ll also answer some of your common questions. If you don’t see a topic that you want to hear about, please let us know and we will do our best to address your questions. This information is meant to help you talk about genetics with confidence.

To help launch DNA Conversation Starters, we are offering a discount for Pathway’s combo Health and Ancestry Genetic Test report. For $348, customers can access genetic testing for health conditions, including drug response, carrier status, and disease plus ancestry. Just enter the code, DNASTART at check out!

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A gene that is most common in a syndrome associated with abnormal heart rhythms and sudden death, triggers epileptic seizures and could explain sudden unexplained death in epilepsy reported researchers from Baylor College of Medicine.

This particular potassium channel “KvLQT,” that has been identified in neurons of the central nervous system, gives scientists a clue to which epilepsy patients face the greatest risk of dying unexpectedly, according to Dr. Jeffrey Noebels.  Originally the channel had been discovered in heart muscle cells but now, for the first time, it has been identified in the brain or nerve cells.

“Idiopathic (unexplained) epilepsy is one of neurology’s oldest mysteries. While most people with epilepsy will have a normal lifespan, our finding now points the way to a simple and essential test to identify risk for sudden death in persons with seizures of unknown origin. In these patients, a routine cardiology evaluation consisting of an EK and, if indicated, a genetic screening test for this family of genes can positively identify this new risk factor,” said Noebels. “If the gene test is positive, there are effective treatments for the heart irregularity, including drugs known as beta blockers, as well as the use of a cardiac pacemaker to prevent lethal arrhythmias.”

Eighteen percent of deaths come suddenly and without warning in epilepsy, devastating families.  To read the full article and learn more visit medicalnewstoday.com

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A gene believed to play a major role in more than half of all breast cancers and a significant portion of other tumors has been identified by scientists.

This particular gene came to light after researchers noticed it was missing from tissues that had been removed from breast cancers for testing. The lack of the gene has also been implicated in half of all cases of colon and prostate cancer, and a quarter of ovarian and bladder tumors.

Paul Edwards, a molecular biologist at Cambridge University, claims this could be the most important cancer-suppressing gene discovery of the past 20 years. “This is a gene lost in a quarter to a half of common cancers, so it is clearly playing a really important role,” says Edwards.

Tissues from 54 breast tumors were examined by Edwards and his colleagues and they found part of chromosome 8 was missing in more than half of them. After cross-checking against the Human Genome Project they were able to identify a gene called NRG1 that was lost.

The discovery of NRG1 is thought to be the most significant step forward in the field since another gene, p53, was discovered in the 1970s and found to be implicated in cancers in the late 1980s. The gene was the first “tumor suppressor” gene found in cells and is known to be faulty or inactivated in many types of the disease.

Check out the entire story at zerocancer.org

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UK scientists say people who carry rare mutations within both copies of a gene called MUTYH are 28 times more likely to develop bowel cancer compared to the general population.

These findings, which helped validate previous discoveries, showed this risk increase only exists if mutations are in both copies of the gene. The research also adds important insights into the controversy surrounding whether or not having just one mutation raises an individual’s risk of bowel cancer.

Researchers observed those who carried biallelic mutations were more likely to develop bowel cancer when relatively young - in their 50s. Most bowel cancers, over 80 per cent, occur in people aged 60 and over. Although the contribution of biallelic mutations to the overall incidence of bowel cancer is not high, the risk of developing the disease is substantial.

Check out the entire article at Medical News Today

jwoodman News & Features bowel cancer, cancer, colon cancer, genetic testing, genetics, new research

What may have been the most famous fraud in biology — Austrian biologist Paul Kammerer’s midwife toad experiments — is actually the basis for epigenetics. Epigenetics, for those unfamiliar, is a fascinating new field where genes are turned on and off based on environmental factors.

Newsweek magazine published a story online today, which will appear in the September 28 magazine issue, explaining how Kammerer was probably right. Unfortunately, he went too far to prove his case and was exposed for injecting India ink into a toad. He committed suicide six weeks later and Arthur Koestler made the saga the subject of his 1971 book, The Case of the Midwife Toad.

Check out What Alters Our Genes in the latest issue of Newsweek.

For those interested in more information on epigenetics, watch The Ghost in Your Genes, a 4-part series, from PBS’s Science NOVA.

jwoodman News & Features epigenetics

Keele University researchers have identified two additional genes for improving the diagnosis and treatment of breast cancer patients.

Researchers have been particularly interested in identifying and studying genes which control whether a cell lives or dies. They found survival rate for patients with a low expression of a gene known as Fau, a tumor suppressor, is twice as short as for people with normal levels. A high expression of the cancer-causing gene MELK has a similar effect.

“Our ongoing research is about finding the genes which may go wrong in people with cancer,” said Professor Gwyn Williams, who has been working on the study for 20 years. “Genetic changes give hints to where to target therapy and can also help diagnose cancer.”

The recent findings may also prove significant for ovarian and prostate cancer research.

Read the story at Science Daily.

jwoodman DNA Testing, News & Features breast cancer, new research

Scientists have always known that every time DNA is passed from one generation to the next, there are slight mutations. Unfortunately, the number of new mutations has been sort of an estimate until recent advancements in sequencing technologies.

A British-Chinese research team recently sequenced ten million base pairs on the Y chromosome from two men living in rural China who were distant relatives. These men had inherited the same ancestral male-only chromosome from a common relative who was born more than 200 years ago. The scientists were able to determine the slight DNA copying mistakes of the Y chromosome over the subsequent 13 generations.

By using the latest sequencing technologies, scientists were able to extrapolate their findings to the entire genome and come up with a mutation rate of one in every 30 million base pairs each time DNA is passed to the next generation.

Estimating the mutation rate with the Y chromosome is easier because most of the Y chromosome doesn’t mix with any other chromosomes. This means the mutation rate might be somewhat different on other chromosomes and we should expect to see more studies examining this fascinating aspect of humans have evolved over thousands of generations.

Read the entire story at Nature.com.

jwoodman News & Features mutation rate, new research

Traditionally chemotherapy has been the treatment of choice for those diagnosed with non-small cell lung cancer, which accounts for 80 percent of all lung cancers. Recently, however, researchers in Japan, Hong Kong and Spain have found that people with specific mutations in genes for the epidermal growth factor receptor (EGFR), can survive over twice as long by taking AstraZeneca’s target drug Iressa (gefitinib) instead of chemotherapy.

“This basically confirmed what we have thought, that in selected populations (light smokers or those who never smoked), those testing positive for EGFR mutations will do much better in progression-free survival than if you put the patient on chemo,” said Dr. Edgardo Santos, an assistant professor of medicine in the hematology and oncology section at the University of Miami’s Sylvester Comprehensive Cancer Center. “For the first time in a selected population, you have a drug which can compete with systemic chemotherapy—there is a pill that matches systemic chemotherapy.”

Read the full story at HealthNews.com.

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Everybody knows that smoking is one of the biggest risk factors for lung cancer. But what we haven’t been able to do is identify smokers that have an evern greater risk than other smokers. In other words, scientists have found more evidence that genetic differences play a big role in determining why certain smokers are much more susceptible to lung cancer.

According to more research from the UK, genes don’t just account for the risk of developing lung cancer but also the type of cancer that develops. The study, from the Institute of Cancer Research, is published in the August 15 issue of Cancer Research.

The study scanned the genomes of 1,900 people with lung cancer and compared them to those of 1,400 people without lung cancer to find differences in DNA that were linked to an increased risk of the disease. Scientists then looked for these same genetic changes in 2,000 people with lung cancer and compared them to the genomes of the same number of people without lung cancer.

Scientists also learned that people with one copy of each variant who smoke or used to smoke have a 28 per cent increased risk of developing lung cancer, whereas current or former smokers who carry both copies of each variant have an 80 per cent higher risk.

For more detail and the specific chromosome involved, read the article at Medical News Today.

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