by brant bullard | Mar 19, 2014 | News
What are genetics and genomics?
Genetics is a term that refers to the study of genes and their roles in inheritance – in other words, the way that certain traits or conditions are passed down from one generation to another. Genetics involves scientific studies of genes and their effects. Genes (units of heredity) carry the instructions for making proteins, which direct the activities of cells and functions of the body. Examples of genetic or inherited disorders include cystic fibrosis (See: Learning About Cystic Fibrosis), Huntington’s disease (Learning About Huntington’s Disease), and phenylketonuria (PKU) (Learning About Phenylketonuria).
Genomics is a more recent term that describes the study of all of a person’s genes (the genome), including interactions of those genes with each other and with the person’s environment. Genomics includes the scientific study of complex diseases such as heart disease, asthma, diabetes, and cancer because these diseases are typically caused more by a combination of genetic and environmental factors than by individual genes. Genomics is offering new possibilities for therapies and treatments for some complex diseases, as well as new diagnostic methods.
Pharmacogenetics and Pharmacogenomics
The terms “pharmacogenetics” and “pharmacogenomics” are often used interchangeably in describing the intersection of pharmacology (the study of drugs, or pharmaceuticals) and genetic variability in determining an individual’s response to particular drugs. The terms may be distinguished in the following way.
Pharmacogenetics is the field of study dealing with the variability of responses to medications due to variation in single genes. Pharmacogenetics takes into account a person’s genetic information regarding specific drug receptors and how drugs are transported and metabolized by the body. The goal of pharmacogenetics is to create an individualized drug therapy that allows for the best choice and dose of drugs. One example is the breast cancer drug trastuzumab (Herceptin). This therapy works only for women whose tumors have a particular genetic profile that leads to overproduction of a protein called HER2. (See: Genetics, Disease Prevention and Treatment)
Pharmacogenomics is similar to pharmacogenetics, except that it typically involves the search for variations in multiple genes that are associated with variability in drug response. Since pharmacogenomics is one of the large-scale “omic” technologies, it can examine the entirety of the genome, rather than just single genes. Pharmacogenomic studies may also examine genetic variation among large groups of people (populations), for example, in order to see how different drugs might affect different racial or ethnic groups.
Pharmacogenetic and pharmacogenomic studies are leading to drugs that can be tailor-made for individuals, and adapted to each person’s particular genetic makeup. Although a person’s environment, diet, age, lifestyle, and state of health can also influence that person’s response to medicines, understanding an individual’s genetic makeup is key to creating personalized drugs that work better and have fewer side effects than the one-size-fits-all drugs that are common today. (See: Genetics, Disease Prevention and Treatment). For example, the U.S. Food and Drug Administration (FDA) recommends genetic testing before giving the chemotherapy drug mercaptopurine (Purinethol) to patients with acute lymphoblastic leukemia. Some people have a genetic variant that interferes with their ability to process this drug. This processing problem can cause severe side effects, unless the standard dose is adjusted according to the patient’s genetic makeup. (See: Frequently Asked Questions about Pharmacogenomics).
Read more at: genome.gov
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by brant bullard | Mar 19, 2014 | News
What is Personalized Medicine?
To “personalize” or identify the preferred treatment options for individual patients, doctors typically consider a patient’s health, family history and other factors such as diet or lifestyle.
Advances in science and technology have made it possible to add one more piece to the puzzle: genetic variations that influence how a patient responds to certain medicines.
In recent years, the U.S. Food and Drug Administration began revising labeling guidelines for certain medications to inform doctors and patients about genetic variations that can affect the body’s response to a drug. Screening for genetic variations can help patients receive the proper dosage, experience fewer side effects or avoid drugs that might not work well.
Read more at: UFHealth.com
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by brant bullard | Mar 17, 2014 | News
A person’s environment, diet, and general state of health can all influence how he or she responds to medicines. But another key factor is genes. The study of how people respond differently to medicines due to their genetic inheritance is called pharmacogenetics. The term has been pieced together from the words pharmacology (the study of how drugs work in the body) and genetics (the study of how traits are inherited). An ultimate goal of pharmacogenetics is to understand how someone’s genetic make-up determines how well a medicine works in his or her body, as well as what side effects are likely to occur. In the future, advances gleaned from pharmacogenetics research will provide information to guide doctors in getting just enough of the right medicine to a person–the practice of “personalized medicine.”
Read more at: Dartmouth.edu
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by brant bullard | Mar 16, 2014 | Journal articles
Pharmacogenetic (PGx) testing is a type of genetic test that assesses a patient’s risk of an adverse response or likelihood to respond to a given drug, informing drug selection and dosing.
As a pillar of the personalized medicine movement, PGx testing is anticipated to be important across all medical specialties,2 but particularly in primary care, where the majority of all drug prescriptions are written. It has been estimated that many of the drugs commonly prescribed by primary care practitioners (PCPs) such as fluoxetine, metoprolol, warfarin, and simvastatin are affected by PGx variation. Although several different strategies of delivering PGx testing have been proposed or are being investigated,6–8 at present, there is little clarity on which health professionals should order PGx testing, at what stage during treatment testing should be ordered, how best to communicate results to patients, and where results should be stored to inform future therapeutic decision making. Patients prefer receiving PGx test results from a familiar provider whom they trust such as a PCP; however, several factors have contributed to the slow integration of PGx testing in the primary care setting, including limited time as well as familiarity and experience with PGx testing. Because PGx testing is a relatively new field and many PCPs are unfamiliar with many of the basic tenets of the field, ongoing learning opportunities and/or faculty development would enable PCPs to feel more comfortable with the topic, and presumably engage in more effective communication with patients, and more appropriate use of testing. This paper suggests key elements to be discussed with patients prior to testing and when reporting test results to assist PCPs while recognizing some of the practical limitations in the primary care setting.
Read entire article here
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by brant bullard | Mar 14, 2014 | News
If you had to explain your fields of pharmacogenetics, pharmacogenomics and clinical evaluation to a 4th grade science class, what would you say?
Dr. Wolfgang Sadee
The Ohio State University
In an article on the American Association of Pharmaceutical Scientists, read how Dr. Wolfgang Sadee explained pharmacogenetics to a 4th grade science class…
“We know that everyone is an individual and each one is different. These differences come about at least in part through genetics. The genetic information that is contained in the DNA in every cell determines how you look like, what you do, how you feel, and so on. The fields of pharmacogenetics and pharmacogenomics explore how this difference in genetics affects your risk of actually getting a disease later in life and how it affect your response to drugs. People respond differently to the drugs they take. Take aspirin, for example. While it does its job well for most people, some cannot tolerate it and get stomach bleeding. We would like to find out why responses differ and utilize this information to optimize drug therapy for each patient individually. We think people all need to get somewhat different medication in order to be helped optimally.
Pharmacogenetics is a discipline that is already about 50 years old. Back then we usually looked at a single gene that could be defective in how it metabolizes a drug in the body. But now we know about all genes in the body and we understand that each drug interacts with numerous proteins in each gene. This means that genetic variations in a very large number of genes can affect the body’s response to the drug, so that is why we now look at all genes at the same time. This field of study is called genomics.”
Read more at the American Association of Pharmaceutical Scientists
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