DNAction

Does the term “genetic testing” conjure up thoughts of cloned, robot-like human beings and malevolent plots to rule the world? If so, you’ve been reading too much science fiction! The truth is, DNA testing has been put to very beneficial use for decades, primarily in the medical, law enforcement, and legal fields. And with the dramatic scientific advancements that have occurred in recent years, genetic testing has become a valuable resource for general consumers as well. Today, companies like Pathway Genomics are making it easy and affordable for consumers to test their DNA privately and securely.

By testing for common genetic variations or changes in your DNA, commonly referred to single nucleotide polymorphisms or SNPs (pronounced: “snips”), consumers can understand more about their personal biology, and take more proactive control of their health and wellbeing.

Drug response
Pathway’s genetic health report can reveal a person’s tolerance to certain medications. Not all drugs are equally effective for all people—and some medicines can trigger adverse reactions in some individuals. By knowing your sensitivity to Plavix (a drug used to protect against heart attack or stroke), Coumadin (a highly prescribed blood thinner), birth control pills, and other common medications, you can work more effectively with your doctor to determine optimal medical treatment.

Disease
Genetic test reports can also provide you with a wealth of information about your predisposition to certain health events—from chronic conditions like allergies and asthma to diseases such as diabetes, cancer, heart disease and more. It’s important to note that having a genetic marker or SNP that is associated with a health disorder does not mean that you will develop this disease or condition. However, having reliable information about your genetic “blueprint” can help you make more informed decisions about your health and wellness.

Carrier status
It’s also important to know that some diseases are recessive; meaning that both copies of a gene must be defective to have the disease. In recessive conditions you may have a single copy of a defective gene even if you are not directly experiencing a specific health condition. This is commonly referred to as carrier status. As is true of all of your genes, a defective copy can be passed on to your offspring; increasing your child’s chances of being affected with the disease or condition. If both parents are carriers of a particular genetic marker, each child of the couple has a 25% chance of inheriting two copies of the disease-causing variant and developing the disease. By accessing genetic information, couples can make more-informed family-planning decisions.

Ancestral path
Genetic testing can also uncover information about your family’s ancestral path. For some people this could be simply a topic of interest. For others—such as individuals who were adopted—tracing one’s ancestry can provide valuable information about the genetic makeup history of their ancient relatives.

Once you have your genetic test report, then what? That’s another area where Pathway Genomics makes the experience simple and convenient, with a comprehensive, yet easy-to-read, action-orientated genetic test report. If you’re still asking yourself, “What is genetic testing?” look for DNA Conversation Starter #1 on our blog. If you are curious about what you can learn from genetic testing, look forward to Pathway’s next DNA Conversation Starter.

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Welcome to Pathway Genomics’ first, official DNA Conversation Starter. We felt the best way to kick off this campaign was to start with the basics and to answer the first question that comes to many of our minds—What is genetic testing?

If you mention the term “genetic testing” reactions can vary widely—from curiosity, to reticence or anxiety, to enthusiastic acceptance. The reality is, DNA testing has been used for decades, primarily to determine the paternity of children and to obtain forensic evidence for police investigations and legal trials.

In case your high school science classes don’t come readily to mind, here’s a quick refresher: Within every human cell are 23 pairs of chromosomes that house approximately 25,000 genes—coded instructions for building and maintenance of a human body. Our genes are composed of the chemical, DNA. DNA, or Deoxyribonucleic Acid, is the fundamental building block of humankind’s genetic “blueprint” and contains the biological instructions that make our species different from others, and every person (except identical twins) unique.

In the past few years, the science of DNA testing has advanced exponentially, both in the amount of information genetic tests can reveal, and in the precision and reliability of the results. Today, companies like Pathway Genomics are making it easy and affordable for consumers to test their DNA privately and securely, and gain information that can help them make more-informed health and lifestyle decisions. You may still be asking yourself, how does it work?

How it works
Pathway Genomics’ genetic testing service starts by a customer ordering a genetic health or ancestry report. A DNA collection kit is then delivered via mail, containing a saliva collection vial, simple instructions, and a prepaid return envelope. Once a customer returns their saliva sample to Pathway Genomics’ laboratory, and activates their account online, the genetic results are returned in only a few weeks. By using customized and innovative DNA genetic testing technologies, Pathway Genomics conducts comprehensive genotyping services to provide customers with personalized genetic test reports, outlining their propensity for disease, carrier status, drug response, and ancestral history.
Why test? Perhaps you’re simply curious! If you’re like most people who take a personal DNA test, however, discovering the details of your DNA can help you understand more about your biology and empower you to take more proactive control of your health and wellbeing. If you are interested in learning more about why you should test or what you can learn look forward to our next set of DNA Conversation Starters on these topics.

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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 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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Unfortunately, patients diagnosed with depression are often given multiple drugs before finding the right medication at the right dosage for their genetic variations. It’s only been very recently that doctors and the FDA have started using genetic testing to replace the typical trial and error methods that are prone to serious side effects, disease reoccurrence and death.

The Mayo Clinic is currently conducting a scientific study at Franciscan Skemp Healthcare in La Crosse to determine if genetic testing helps physicians in selecting the right antidepressants and dosages.

“This could be a quantum leap in psychiatry,” said Dr. Brian Proctor, a Franciscan Skemp psychiatrist who is part of the study. “I foresee genetic testing as one of the tools we will use in helping our patients.”

Josiah Allen, the study coordinator at Mayo Clinic, said the right drug could prevent death or injury and serious side effects.

“With genetic testing, it may not be necessary to try three, four or five different medications before you find the right one,” Allen said. “I think it will change the face of prescribing medication.”

In a nutshell, genetic tests can tell you whether you’re a fast or slow metabolizer. If your body uses a drug too slowly, it can cause more side effects, even toxic reactions, which severely reduces drug compliance. And when people stop taking their drugs, reoccurrence of conditions and depression can be just as debilitating.

If your body uses the drug too quickly, the drug may be eliminated from your body before it has the opportunity to produce most of its effect. Therefore a person with a faster metabolism will require a higher dose than a person with a slower metabolism.

Read the entire article in Behavioral Health Central.

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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.

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Sharon Ufberg, in a post for Philadelphia’s Examiner.com, takes a shot at J. Craig Venter for his lackadaisical attitude about family history. For those unfamiliar, Venter, a genomics pioneer, was recently named one of Time Magazines most influential people in the world and is one of the first humans to have his entire genome sequenced.

While we agree with Ufberg that today family history is a very important component to understanding disease risk, she entirely misses the point. The reality, as Venter tried to convey, is family history IS genetics. If we entirely understood the entire genome, we certainly wouldn’t have to look at family history. Essentially, the genes we inherit are the most accurate way to look at family history.

The reason responsible medical professionals still look at family history is because our understanding of what genetic components are responsible for complex diseases such as cancer, cardiovascular disease and diabetes is still being sorted out. While our knowledge is expanding daily and we can immediately know many drugs that we metabolize better than others, or what recessive genes we may pass to children, it’s still smart to incorporate family history knowledge with your genetic test results.

We certainly look forward to the day we can all economically have our genome fully sequenced and have a complete understanding of the genes we’ve inherited and what it means for the way we should lead our lives. In the meantime, Pathway recommends filling out your lifestyle and family history surveys as part of our overall service of providing the most accurate risk assessment known today.

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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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Cedars-Sinai Medical Genetics Institute, of Los Angeles, is trying to make broad-scale genetic testing more efficient by targeting ethnicity, a concept called ethnogenetics. The Institute hopes to test at least 10,000 of the 30,000 Persian Jews in Southern California.

Dr. David L. Rimoin, CSMGI director, helped pioneer genetic screening for Tay-Sachs disease in the Ashkenazi Jewish population more than 40 years ago. Since then, science has revealed many gene mutations that appear more frequently in certain ethnic groups. Recent discoveries on several mutations found in Persian Jews, plus their large numbers in Los Angeles, made this group a prime target for the launch of the program.

Every ethnic and racial group has five to 10 gene mutations that increase the risk for specific conditions, Rimoin says. Such traits are more easily identifiable — because they’re more common — in groups with a strong tradition of intermarriage.

Rimoin hopes to expand the program for Persian Jews to New York and Israel. The first 1,000 tests will be administered free, afterwards each screening will cost $200 to $300. Read the complete story for more detail in the Los Angeles Times.

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A recent study published in the June issue of the Journal of Genetic Counseling found that patients diagnosed with ocular melanoma almost unanimously wanted genetic test results related to prognosis.

The study was unusual in that it in ocular melanoma, rather than initial genetic Instead of looking at susceptibility to melanoma or using genetics to target therapies, the study looked at genetic factors related to the possibility of metastasis. Of the 99 patients diagnosed with ocular melanoma, half had undergone localized radiation to shrink the tumor. The remainder also underwent radiation, but first had cells biopsied from their tumors. These cells were grown in culture and studied for a missing copy of chromosome 3—the genetic marker most strongly linked to rapid metastatic disease.

Patients found with this marker in their tumors have at least a 50% chance of death within five years, due to swift spreading of the tumor to the liver and other organs. Aggressive cases can result in blindness and death as quickly as one year.

Even faced with the possibility of this dire prognosis, 98% of patients wanted to know. Of 99 patients, only one person indicated they’d rather not know.

Basically, people understand no good treatment currently exists after melanoma spreads and they want to know their risk for metastasis. If risk is low, it’s a huge relief. And if risk is high, it gives people an opportunity to make arrangements and get the most out of the time they have left.

Read the report in the August 11 issue of Oncology Nursing News.

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