Safe Prescription Pharmacogenetic testing

08/24/2018

The FDA refused to permit GlaxoSmithKline to warn of the risk of su***de with use of antidepressants, even though GlaxoSmithKline wanted to warn of that risk.

A federal appeals court has overturned a $3 million award to the widow of a Reed Smith partner who blamed antidepressant labeling for her husband’s su***de.

08/10/2018

RCCX: Co-segregating C4, CYP21, TNXB mutations may explain EDS/hypermobility, CFS/ME/FM, MCAS, POTS/OI/dysautonomia, autism/mood disorders/anxiety/schizophrenia, MS, Lyme, CVID, endocrine and pain syndromes, etc. in patients and their families

08/04/2018

The following is an example of what can go wrong when doctors don’t perform pharmacogenetic testing, and then prescribe medication for patients without telling them of the FDA black box warning of the risk of adverse reactions.
Parker man sues doctor, pharmacist after alleged misdiagnosis leads to severe skin condition
PARKER, Colo. -- A 22-year old Parker man spent three weeks in a local burn unit after he was prescribed a drug for a mental health condition he does not have.
His lawsuit in Douglas County District Court states he acquired Stevens Johnson Syndrome after being over-prescribed Lamictal, also known by the generic name Lamotrigine.
SJS is a condition that causes serious skin rashes, blisters and sores on mucous membranes like one's eyes.
It's a known side effect of overdosing on Lamictal, an anti-seizure medication sometimes prescribed off-label to treat bipolar depression.
"It was a 10 out of 10," is how Scott described the burning sensation he felt after developing SJS.
His lawsuit comes three years after the then-19-year-old college sophomore woke up in a hospital bed, blind and voiceless.
Doctors had stitched his eyes shut and placed a breathing tube in his throat after a skin rash covering most of his body left him feeling like he had survived an inferno.
"I had two surgeries on my eyes in order to save them from not going blind," said Scott. "Inside of my mouth, I had burns and cuts, and so I couldn't even eat food."
Scott had gone to Aspen Creek Family Medicine in Parker in January 2016 for his yearly physical and mentioned feeling a little depressed.
Investigative reporter Rob Low asked Scott, "As you look back, do you think you had bipolar disorder?"
"No, no, I have never had mental health issues before this," Scott replied.
His physician, Dr. Michael Paul Elder, gave Scott a questionnaire for bipolar disorder. Answering yes to at least seven of 13 questions is supposed to indicate more follow-up, but even the one-page form says it is "For screening purposes only and not to be used as a diagnostic tool."
Scott only scored a six, but Dr. Elder miscounted, giving him a seven, and immediately prescribed Lamictal.
Lamictal is prescribed with what's known as a black box warning in its labeling instructions that mention "serious skin disorders leading to death" and "the incidence of skin disorders was increased when this drug was administered at doses higher than recommended."
Scott said he was not told about the black box warning when he was prescribed the drug.
"There was so many things wrong in this case that it's frightening," said Scott's attorney, Hollynd Hoskins of the Leventhal and Puga law firm.
In her lawsuit, Hoskins alleged her client was prescribed twice the recommended dosage on the first day, and by the second week, his dosage had been increased to four times the recommended amount.
"Not only was the diagnosis false -- he did not have bipolar -- not only did he diagnosis it with a screening tool, he prescribed Lamictal, a serious drug, at four times the recommended dose." said Hoskins.
Scott came back to Aspen Creek Family Medicine for a follow-up eight days after starting Lamictal. He mentioned having shaky hands, but the family nurse who treated him, Diedre Marchetti, didn't consider it a red flag.
"It's potentially a side effect of Lamictal. It's also a non-uncommon symptom of anxiety," Marchetti told Hoskins in her deposition.
Scott's lawsuit also names a Walgreen's pharmacist named Anisa Bartells for not mentioning the black box warning that comes with a prescription of Lamictal. The following exchange comes from her deposition with Hoskins:
Anisa Bartells: "A black box warning contains important prescribing information about a drug."
Hollynd Hoskins: "And is a black box warning something you would use as a pharmacist?"
Anisa Bartells: "No."
Dr. Elder admitted in his deposition that he never discussed the black box warning with Scott and he expressed no concerns about overdosing his patient.
A portion of the deposition is quoted below:
Hollynd Hoskins: "Is [Scott] the only patient where you used your judgment to deviate from the FDA guidelines and instructions in dosing and titrating Lamictal?"
Dr. Michael Elder: "No."
Hollynd Hoskins: "So there are other patients where you have deviated from the FDA's instructions and guidelines prescribing Lamictal?"
Dr. Michael Elder: "Yes."
When asked during his deposition why he would overdose his patient given the obvious risk, Dr. Elder responded, "Well, the severity of his depression. I felt like his depression was more on the severe side, and that was a concern for me to treat him and to escalate his dosage regimen in order to bring his depression under better control quickly."
Hoskins said there is no evidence Scott actually had bipolar depression.
"This doctor was not qualified to make that diagnosis," said Hoskins. "He used a vague, 10minute questionnaire and that led to a false diagnosis. He used the wrong dosage and that led to a very life-threatening, serious rash in Scott."
"I had rashes and bubbles on the bottom of my feet. I had to walk on top of the rashes and bubbles. You could feel them pop and burst, and just the pain -- it was like standing on needles," Scott said. The 22-year old can now finally walk without pain. In May, he graduated from the University of Colorado Boulder.
However, Scott will have vision issues the rest of his life and has been told he may develop Glaucoma.
"Hard to believe that all the little checkpoints where someone could have caught what was going wrong... that they didn't," Scott said.
At the time of the depositions, Dr. Elder still hadn't reported Scott's adverse reaction to the FDA even though it's required under law.
The lawsuit against Dr. Elder, Marchetti and Bartells is set to go to trial in October. Attorneys for all three defendants declined to comment.

07/11/2018

Pharmacogenomics can play an important role in identifying responders and non-responders to medications, avoiding adverse events, and optimizing drug dose. Drug labeling may contain information on genomic biomarkers.

07/04/2018

Designer babies, the end of diseases, genetically modified humans that never age. Outrageous things that used to be science fiction are suddenly becoming rea...

06/30/2018

Using Genes to Guide Prescriptions

Genes determine how you look—your hair and eye color, facial shape, height and other characteristics. They also play a role in how your body responds to medicines. .
Your genes determine the color of your eyes and whether you have dimples or can roll up your tongue. They control plenty of features inside your body, too, including how you respond to certain medicines.
In general, each gene is the body's instructions for building a specific protein. These instructions are in a code made up of biochemical units abbreviated A, T, G and C.
Different people might have slightly different versions—or spellings—of genes. Most of these variations have no effect on health. But if a gene codes for a protein that plays a role in how the body responds to medications, people with an unusual spelling might find that medications work differently or cause side effects not experienced by people with a more common spelling.
Scientists in a research field called pharmacogenomics aim to understand how genes influence individual drug responses. Many of these researchers are supported by grants from the National Institutes of Health (NIH). The scientists' goal is to provide information that helps doctors prescribe the drug and dosage that would work best for each person.
Here are examples of NIH-funded pharmacogenomics research findings related to different medical conditions. Not all have made it to routine use in doctors' offices, but the use of genetic information to guide treatments is growing.
Heart Attacks and Strokes

Millions of Americans take aspirin daily to ward off heart attacks and strokes. But it doesn't work for all of them, and genes might make the difference.
For people who have had a heart attack or stroke, doctors often recommend daily doses of aspirin to lower the risk of recurrence. Aspirin works by reducing the activity of blood-clotting particles called platelets. Excess platelet activity can cause blood clots that lead to heart attacks and strokes.
About 60 million Americans take aspirin each day to prevent such problems. But in 10 to 30 percent of these people, it doesn't work. A team of researchers discovered a set of 60 genes whose activity can predict whether a person will benefit from aspirin therapy or not.
A different group of researchers focused on a gene called PEAR1, which codes for a protein on the surface of platelets. One spelling of the gene, with an A instead of a G at a particular spot, makes people more likely to have a heart attack, even while taking aspirin. For these people, doctors can prescribe other methods to prevent heart attacks and strokes.
Lung Cancer

Pharmacogenomics research might one day help prevent lung cancer in smokers who can't kick the habit.
Lung cancer is the number-one cause of cancer deaths in both men and women in the United States, and smoking leads to 80 to 90 percent of these cases. Smokers who can't quit might benefit from research on a gene called CYP2A13. This gene codes for a lung enzyme that converts a substance in to***co into two cancer-causing molecules.
Scientists plan to explore whether blocking the activity of CYP2A13 could prevent the formation of these dangerous molecules and reduce the incidence of lung cancer among smokers.
Breast Cancer

Scientists recently identified two gene variants that may predict which women at high-risk for breast cancer will benefit from drugs to prevent the disease.
For some women at high risk for breast cancer based on their age, family medical history or other factors, a long-term treatment with a class of drugs called selective estrogen receptor modulators (SERMs) can cut the disease risk in half. Researchers recently discovered that women have the greatest chance of benefitting from the strategy if they have certain spellings in two locations—the ZNF423 gene and near the CTSO gene.
In the largest-scale analysis of its kind, such women were almost six times less likely to develop breast cancer during the 5-year course of treatment than were women with neither advantageous spelling. With this information, women and their doctors will be better able to balance the potential benefits and risks of the long-term preventive strategy.
Childhood Leukemia

Childhood leukemia is highly curable, due in part to pharmacogenomics research. .
Drugs known as thiopurines are prescribed for a childhood cancer called acute lymphoblastic leukemia (ALL), but getting the dose right is critical. To help them do so, doctors can examine the genetic spelling of a protein called TPMT in each patient. TPMT processes and inactivates thiopurines.
The most common genetic spelling of TPMT makes a protein that acts on thiopurines quickly. But about 10 percent of people have a variant spelling that produces a slower-acting protein. For these people, doctors can prescribe lower thiopurine doses—or different medications—to prevent the drug from building up to toxic levels before it's processed by the body.
Rheumatoid Arthritis

New insight into drugs that treat rheumatoid arthritis may help doctors personalize prescriptions for the condition.
Rheumatoid arthritis causes swelling and pain in a person's joints, usually in the hands and feet. It happens when the body's immune system mistakenly attacks the joints using an arsenal of inflammation-producing molecules. Decades ago, researchers discovered that blocking a single molecule, TNF-alpha, could turn down this inflammatory response. Now, medicines that turn off TNF-alpha are used to treat rheumatoid arthritis and a number of related disorders.
Scientists found that the effectiveness of a TNF-alpha blocker called etanercept depends on the spelling of a gene called CD84. For two other TNF-alpha blockers, the spelling of CD84 doesn't matter. This discovery will help researchers understand differences in how the three drugs work in the body, possibly paving the way for personalized prescriptions based on an individual's version of CD84 or other genetic factors.
These and other studies will continue to yield insight into the complicated process of how our bodies respond to medicines and point to new ways to tailor therapies for each person.

06/30/2018

What is pharmacogenomics? Pharmacogenomics (sometimes called pharmacogenetics) is a field of research that studies how a person’s genes affect how he or she responds to medications. Its long-term goal is to help doctors select the drugs and doses best suited for each person. It is part of the field of precision medicine, which aims to treat each patient individually. What role do genes play in how medicines work? Just as our genes determine our hair and eye color, they partly affect how our bodies respond to medicine. Genes are instructions, written in DNA, for building protein molecules. Different people can have different versions of the same gene. Each version has a slightly different DNA sequence. Some of these variants are common, and some are rare. And some affect health, such as those gene variants linked to certain diseases. Scientists know that certain proteins affect how drugs work. Pharmacogenomics looks at variations in genes for these proteins. Such proteins include liver enzymes that chemically change drugs. Sometimes chemical changes can make the drugs more—or less—active in the body. Even small differences in the genes for these liver enzymes can have a big impact on a drug’s safety or effectiveness. One liver enzyme, known as CYP2D6, acts on a quarter of all prescription drugs. For example, it converts the painkiller codeine into its active form, morphine. There are more than 160 versions of the CYP2D6 gene. Many vary by only a single difference in their DNA sequence. Others have larger changes. Most of these variants don’t affect how people respond to the drug. Typically, people have two copies of each gene. However, some people have hundreds or even thousands of copies of the CYP2D6 gene. Those with extra copies produce too much of the CYP2D6 enzyme and process the drug very fast. As a result, their bodies may convert codeine to morphine so quickly and completely that a standard dose can be an overdose. In contrast, some variants of CYP2D6 create an enzyme that doesn’t work. People with these variants process codeine slowly, if at all, leading to little, if any, pain relief. For them, doctors can prescribe a different drug. How is pharmacogenomics affecting drug design, development, and prescribing guidelines? The Food and Drug Administration (FDA) monitors drug safety in the United States. It now includes pharmacogenomic information on the labels of around 200 medications . This information can help doctors Your genes determine a lot about how you look. They also play a key role in how medications work in your body.




tailor drug prescriptions for individual patients by providing guidance on dose, possible side effects, or differences in effectiveness for people with certain gene variants. Drug companies are also using pharmacogenomics to develop and market medicines for people with specific genetic profiles. By studying a drug only in people likely to benefit from it, drug companies might be able to speed up the drug’s development and maximize its therapeutic benefit. In addition, if scientists can identify genes that cause serious side effects, doctors could prescribe those drugs only to people who do not have those genes. This would allow some individuals to receive potentially lifesaving medicines that otherwise might be banned because they pose a risk for other people. How is pharmacogenomics affecting medical treatment? Currently, doctors prescribe drugs based mostly on factors such as a patient’s age, weight, s*x, and liver and kidney function. For a few drugs, researchers have identified gene variants that affect how people respond. In these cases, doctors can select the best medication and dose for each patient. Additionally, learning how patients respond to medications helps to discern the different forms of their diseases.

06/30/2018

What is pharmacogenomics?
Pharmacogenomics is the study of how genes affect a person’s response to drugs. This relatively new field combines pharmacology (the science of drugs) and genomics (the study of genes and their functions) to develop effective, safe medications and doses that will be tailored to a person’s genetic makeup.
Many drugs that are currently available are “one size fits all,” but they don't work the same way for everyone. It can be difficult to predict who will benefit from a medication, who will not respond at all, and who will experience negative side effects (called adverse drug reactions). Adverse drug reactions are a significant cause of hospitalizations and deaths in the United States. With the knowledge gained from the Human Genome Project, researchers are learning how inherited differences in genes affect the body’s response to medications. These genetic differences will be used to predict whether a medication will be effective for a particular person and to help prevent adverse drug reactions.
The field of pharmacogenomics is still in its infancy. Its use is currently quite limited, but new approaches are under study in clinical trials. In the future, pharmacogenomics will allow the development of tailored drugs to treat a wide range of health problems, including cardiovascular disease, Alzheimer disease, cancer, HIV/AIDS, and asthma.
For more information about pharmacogenomics:
The National Institute of General Medical Sciences offers a list of Frequently Asked Questions about Pharmacogenomics.
A list of Frequently Asked Questions about Pharmacogenomics is also offered by the National Human Genome Research Institute.
Additional information about pharmacogenetics is available from the Centre for Genetics Education as well as Genes In Life.
Call me at 516 228 1050 to learn how you can get an easy pharmacogenetics test to avoid adverse drugs reactions and make sure the medications your doctors prescribe for you will work.

06/28/2018

http://statedclearly.com/videos/what-is-a-gene/

You hear about genes all the time in the news and in the movies, but what exactly is a gene? Here we explain what they are and even go over how genetically modified organism are being produced.

06/28/2018

http://statedclearly.com/videos/what-is-dna/

Learn how DNA creates a living creature! Here you will be introduced to the genetic code, DNA transcription and translation, and the importance of proteins in the chemistry of life.

06/25/2018

DEAR MAYO CLINIC: What do doctors mean when they talk about “personalized” medicine? How is personalized medicine connected to genetic [...]